O14936
EV
Gene name |
CASK (LIN2) |
Protein name |
Peripheral plasma membrane protein CASK |
Names |
hCASK, Calcium/calmodulin-dependent serine protein kinase, Protein lin-2 homolog |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8573 |
EC number |
2.7.11.1: Protein-serine/threonine kinases |
Protein Class |
MEMBRANE-ASSOCIATED GUANYLATE KINASE MAGUK (PTHR23122) |
Descriptions
CASK is a unique MAGUK protein that contains an N-terminal CaM-kinase domain besides the typical MAGUK domains. It functions as an active protein kinase even in the absence of Mg2+ binding. In an archetypal CaM kinase, the catalytic domain is followed by an autoinhibitory domain that inhibits kinase activity. This domain is disinhibited by Ca2+/calmodulin binding. However, the autoinhibitory domain of CASK does not engage in direct contacts with the ATP-binding cleft. Consequently, the CaM-kinase domain of CASK appears to retain a non-functional autoinhibitory domain as an evolutionary vestige of CaM-kinases, despite the fact that CASK displays an inherently closed active conformation which binds to nucleotides constitutively.
Autoinhibitory domains (AIDs)
Target domain |
No autoinhibition |
Relief mechanism |
|
Assay |
Deletion assay, Mutagenesis experiment, Structural analysis |
Accessory elements
161-184 (Activation loop from InterPro)
Target domain |
12-276 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
17 structures for O14936
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1KGD | X-ray | 131 A | A | 739-914 | PDB |
| 1KWA | X-ray | 193 A | A/B | 487-572 | PDB |
| 1ZL8 | NMR | - | B | 403-456 | PDB |
| 3C0G | X-ray | 219 A | A/B | 1-337 | PDB |
| 3C0H | X-ray | 230 A | A/B | 1-337 | PDB |
| 3C0I | X-ray | 185 A | A | 1-337 | PDB |
| 3MFR | X-ray | 200 A | A | 1-337 | PDB |
| 3MFS | X-ray | 210 A | A | 1-337 | PDB |
| 3MFT | X-ray | 220 A | A | 1-337 | PDB |
| 3MFU | X-ray | 230 A | A | 1-337 | PDB |
| 3TAC | X-ray | 220 A | A | 1-345 | PDB |
| 6KMH | X-ray | 240 A | A/B | 1-319 | PDB |
| 7OAI | X-ray | 230 A | A/B/C/D | 1-337 | PDB |
| 7OAJ | X-ray | 193 A | A/B/C/D | 1-337 | PDB |
| 7OAK | X-ray | 223 A | A/B/C/D | 1-337 | PDB |
| 7OAL | X-ray | 217 A | A/B/C/D | 1-337 | PDB |
| AF-O14936-F1 | Predicted | AlphaFoldDB |
330 variants for O14936
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs587783362 RCV000145399 |
7 | L>missing | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001332311 rs2072812741 |
19 | G>E | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1135401762 RCV000496613 |
23 | F>missing | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs794727270 RCV000175755 RCV001257954 RCV000723984 CA201623 |
27 | R>* | Congenital cerebellar hypoplasia Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001857501 RCV000145415 CA171494 rs587783370 RCV000430705 |
28 | R>* | Syndromic X-linked intellectual disability Najm type Intellectual disability, CASK-related, X-linked [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
VAR_058719 rs137852816 RCV000012288 CA121531 |
28 | R>L | FGS4; does not reveal significant alterations induced by the mutation substitution; causes a partial skipping of exon 2 of the protein FG syndrome 4 Fg syndrome 4 (fgs4) [UniProt, ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
COSM3668779 rs1556254569 RCV000620583 CA413000876 |
37 | Q>* | Syndromic X-linked intellectual disability Najm type liver [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000646770 CA413002718 rs1556121425 |
64 | S>N | Intellectual disability, CASK-related, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2068673777 RCV001267216 |
97 | A>E | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000697924 rs1569429756 CA413003079 |
102 | E>G | Intellectual disability, CASK-related, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000522520 COSM1468032 CA250707 RCV000022831 rs387906704 |
106 | R>* | Syndromic X-linked intellectual disability Najm type large_intestine [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs886043662 CA10605796 RCV000347432 RCV000543246 |
115 | E>V | Intellectual disability, CASK-related, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1602550687 RCV001004663 CA413002944 |
120 | H>R | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067197219 RCV001260653 |
164 | G>R | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000685120 RCV000483810 rs781247892 CA10390371 |
175 | V>A | Intellectual disability, CASK-related, X-linked [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000686262 CA412998242 rs1569379968 |
199 | P>L | Intellectual disability, CASK-related, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA251022 RCV000145409 rs587783367 |
206 | G>D | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001253349 rs2067099763 RCV001260654 RCV001577724 |
206 | G>S | Intellectual disability Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1556014749 RCV000498072 CA412998045 RCV000621770 |
209 | L>P | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2067016221 RCV001253169 |
242 | W>* | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000622638 rs1556013344 CA412996690 |
249 | A>D | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000990802 rs1602424869 |
258 | M>missing | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1602424843 CA412996516 RCV000990801 |
263 | E>K | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA121533 VAR_062996 RCV000012289 rs137852817 |
268 | Y>H | MICPCH FG syndrome 4 Fg syndrome 4 (fgs4) [UniProt, ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000502372 rs886128077 CA412994696 RCV000763625 RCV000656243 |
282 | Y>* | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000624088 CA658799725 rs1556004104 |
282 | Y>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000578669 RCV001809679 CA412994695 rs886128077 |
282 | Y>* | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001260655 rs2066559023 |
292 | V>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587783371 RCV000145416 CA251027 |
294 | Q>* | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000850537 rs1602386709 |
306 | G>missing | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000720151 rs755594972 CA10390310 RCV001862074 |
313 | S>T | Intellectual disability, CASK-related, X-linked History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001252177 rs2066303451 |
342 | A>V | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001225873 CA10390266 rs762180439 |
359 | A>V | Intellectual disability, CASK-related, X-linked [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001093500 rs759161435 CA10390264 RCV002069615 |
364 | S>G | Intellectual disability, CASK-related, X-linked [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA121539 rs137852820 VAR_062997 RCV000012292 RCV000733420 |
396 | P>S | MICPCH FG syndrome 4 Fg syndrome 4 (fgs4) [UniProt, ClinVar, Ensembl] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA358261 rs139731261 RCV000210732 |
430 | R>H | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1602292205 RCV000990799 |
462 | P>missing | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10603954 rs886042221 RCV000717862 RCV000369557 |
464 | T>A | History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA329232233 RCV000646772 rs1021774904 |
470 | G>S | Intellectual disability, CASK-related, X-linked [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000718966 CA10390208 rs201435578 RCV000551457 |
471 | D>N | Intellectual disability, CASK-related, X-linked History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA329232231 rs1141273 RCV000691244 |
479 | D>G | Intellectual disability, CASK-related, X-linked [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001253354 CA412997370 RCV000999405 RCV001814250 rs1602292076 |
489 | R>Q | FG syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000491353 rs1114167352 RCV000844926 CA412997373 RCV000990798 |
489 | R>W | Syndromic X-linked intellectual disability Najm type CASK-Related Disorder Smith-Magenis Syndrome-like [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000485707 rs1064796879 RCV000509559 CA16621403 |
494 | Q>* | CASK-Related Disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001260871 rs2065513776 |
501 | M>V | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000622948 CA412995636 rs1555983784 |
519 | M>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001270856 rs2065377688 |
527 | Q>* | CASK-related intellectual disability and microcephaly with pontine and cerebellar hypoplasia [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000527725 CA412995056 rs1555981722 |
531 | H>P | Intellectual disability, CASK-related, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000599298 RCV000990797 rs1555981717 CA412995016 |
537 | R>* | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs387906705 RCV000022833 CA250709 |
547 | Q>* | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1569306724 RCV000691765 |
548 | T>missing | Intellectual disability, CASK-related, X-linked [ClinVar] | Yes |
ClinVar dbSNP |
|
rs587783357 RCV000145394 |
549 | V>missing | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000425433 RCV000623320 rs900079494 CA16603192 |
573 | T>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs780588221 RCV000646773 CA10390130 |
593 | G>R | Intellectual disability, CASK-related, X-linked [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs779508996 RCV000481042 RCV000502316 CA16621400 |
613 | R>* | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555980033 RCV000500609 CA412993392 |
622 | E>* | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA412993126 RCV000703484 rs1569302194 |
637 | G>D | Intellectual disability, CASK-related, X-linked [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA250591 RCV000255325 RCV000012286 rs137852815 |
639 | R>* | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001004925 CA412992838 rs1602253509 |
657 | W>* | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA251215 rs727505397 RCV000157068 |
659 | G>D | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs797045431 RCV000194542 |
661 | L>missing | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1602253464 RCV001028096 |
666 | N>missing | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000717560 CA412992642 rs1168108458 |
672 | I>V | History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs587783358 RCV000145395 CA251010 |
680 | W>S | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000145397 RCV000263870 CA251012 rs587783360 |
681 | R>* | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs767030499 CA10390079 RCV000646771 |
683 | A>V | Intellectual disability, CASK-related, X-linked [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1555977248 CA412992418 RCV000624320 |
689 | K>* | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587783361 RCV000145398 CA251014 |
692 | Q>* | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000779658 RCV001257980 rs1569295677 |
708 | Y>missing | Congenital cerebellar hypoplasia Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000760252 CA121535 rs137852818 RCV000012290 VAR_062998 |
710 | D>G | Syndromic X-linked intellectual disability Najm type MICPCH FG syndrome 4 Fg syndrome 4 (fgs4) [ClinVar, UniProt, Ensembl] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA128780 RCV000022829 RCV000193589 rs398122844 |
728 | Y>C | Syndromic X-linked intellectual disability Najm type FG syndrome 4 Fg syndrome 4 (fgs4) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000703475 CA10390060 rs759074946 |
743 | V>L | Intellectual disability, CASK-related, X-linked [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001196936 rs2064853222 |
748 | H>R | FG syndrome 4 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569288603 RCV000723311 |
781 | D>missing | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001260656 rs2064797651 |
794 | D>V | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001243235 rs751235198 CA10390025 |
804 | E>K | Intellectual disability, CASK-related, X-linked [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000990796 CA412990245 rs1602220170 |
810 | S>N | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001093498 RCV001856281 rs138646715 CA10390018 |
824 | R>Q | Intellectual disability, CASK-related, X-linked [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA10390019 rs369792621 RCV000720774 |
824 | R>W | History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs587783364 CA251019 RCV000145402 |
829 | Q>* | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA204679 RCV000190700 rs759736132 |
829 | Q>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000194553 rs797045433 |
849 | E>missing | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1555972628 RCV000503963 |
850 | F>missing | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1569283243 CA412989165 RCV000758008 |
854 | V>A | Syndromic X-linked intellectual disability Najm type [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000554466 rs966502877 CA329227631 |
863 | T>I | Intellectual disability, CASK-related, X-linked [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001253441 CA10389973 rs754713652 |
874 | R>H | FG syndrome 4 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs763204661 RCV001034504 CA10389970 |
886 | Y>H | Intellectual disability, CASK-related, X-linked [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000012291 rs137852819 CA121537 |
919 | W>R | FG syndrome 4 Fg syndrome 4 (fgs4) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1556313516 RCV000579113 |
1 | M>L | No |
ClinVar dbSNP |
|
|
rs1556313509 RCV000657515 |
8 | F>missing | No |
ClinVar dbSNP |
|
|
rs773495975 CA10390664 |
8 | F>L | No |
ClinGen ExAC gnomAD |
|
|
RCV000999407 rs1021128001 CA413001880 |
12 | Y>* | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs769965673 RCV001268856 |
13 | E>* | No |
ClinVar dbSNP |
|
|
rs769965673 CA10390663 |
13 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1362387864 CA413001859 |
14 | L>P | No |
ClinGen gnomAD |
|
|
CA200442 rs727503840 |
19 | G>R | No |
ClinGen Ensembl |
|
|
rs763309338 CA10390648 |
34 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA413000898 rs1485547629 |
35 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1241515079 CA413000836 |
40 | V>A | No |
ClinGen gnomAD |
|
|
CA10390646 rs749242018 |
40 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1210711127 CA413000665 |
55 | S>R | No |
ClinGen gnomAD |
|
|
CA413000639 rs1231160273 |
58 | D>N | No |
ClinGen TOPMed |
|
|
rs1341763226 CA413002738 |
61 | R>Q | No |
ClinGen gnomAD |
|
|
RCV000520331 rs1556121448 |
62 | E>missing | No |
ClinVar dbSNP |
|
|
CA10390637 rs747541503 |
72 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA413002516 rs1310982151 |
92 | E>K | No |
ClinGen TOPMed |
|
|
rs1602560972 RCV001008953 |
95 | D>missing | No |
ClinVar dbSNP |
|
|
rs753922395 CA10390626 |
95 | D>G | No |
ClinGen ExAC |
|
|
CA10390624 rs761124811 |
104 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA413003051 rs1569429735 |
107 | A>T | No |
ClinGen Ensembl |
|
|
CA10390622 COSM1121487 rs767887493 |
109 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
rs759852198 CA10390621 |
110 | G>D | No |
ClinGen ExAC |
|
|
rs1199090087 CA413003000 |
114 | S>N | No |
ClinGen TOPMed |
|
|
rs1411378502 CA413002875 |
130 | R>C | No |
ClinGen TOPMed |
|
|
CA412999102 rs1174393974 |
146 | C>R | No |
ClinGen gnomAD |
|
|
rs748166255 CA10390372 |
150 | A>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000427392 CA16608929 rs1057521754 |
165 | V>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1556016347 COSM74012 RCV000497686 CA412998971 |
166 | A>P | ovary [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs886041284 RCV000370759 |
175 | V>missing | No |
ClinVar dbSNP |
|
|
CA329245695 rs1025721036 |
176 | A>P | No |
ClinGen Ensembl |
|
|
rs1336701127 CA412998534 |
179 | R>H | No |
ClinGen gnomAD |
|
|
rs1602431663 RCV001008315 CA915950943 |
182 | T>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1556014805 RCV000627465 |
185 | F>missing | No |
ClinVar dbSNP |
|
|
RCV000762626 rs1569379996 CA412998355 |
193 | R>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10588785 rs886039474 RCV000255294 |
203 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10390354 rs773434345 |
203 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA412998142 rs1313406532 |
204 | G>A | No |
ClinGen TOPMed |
|
|
rs1189980578 CA412997840 |
219 | F>C | No |
ClinGen gnomAD |
|
|
CA412997815 RCV000497506 rs747587301 |
220 | Y>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1256169792 CA412997810 |
221 | G>R | No |
ClinGen gnomAD |
|
|
rs772502323 CA10390347 |
225 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs746295105 CA10390346 |
230 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs886043863 CA10606045 RCV000313777 |
240 | R>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001091006 rs2067016341 |
241 | Q>* | No |
ClinVar dbSNP |
|
|
rs754405673 CA10390340 |
242 | W>G | No |
ClinGen ExAC |
|
|
rs755881479 CA10390339 |
243 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA412996754 rs1459833004 |
245 | I>V | No |
ClinGen gnomAD |
|
|
CA412996624 RCV000714883 rs1569376084 |
254 | R>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA16621405 rs1064794937 |
255 | R>C | No |
ClinGen Ensembl |
|
|
CA251025 rs587783369 |
255 | R>H | No |
ClinGen Ensembl |
|
|
CA10390338 rs766169025 |
260 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1602424764 CA412996350 |
275 | W>* | No |
ClinGen Ensembl |
|
|
rs1216651413 CA412994729 |
280 | D>Y | No |
ClinGen TOPMed |
|
|
rs771368987 CA10390325 |
281 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA412994693 rs1012863843 |
283 | A>S | No |
ClinGen gnomAD |
|
|
CA329242357 COSM3844715 rs1012863843 |
283 | A>T | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA10390324 rs747865069 |
293 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA412994511 rs1442053618 |
300 | A>T | No |
ClinGen TOPMed |
|
|
rs1188989324 CA412994505 |
300 | A>V | No |
ClinGen TOPMed |
|
|
CA412994496 rs1233922717 |
301 | R>T | No |
ClinGen gnomAD |
|
|
rs767680782 CA10390309 |
324 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA412993987 rs767680782 |
324 | P>L | No |
ClinGen ExAC gnomAD |
|
|
RCV000482216 CA10390308 rs760139497 |
325 | P>H | No |
ClinGen ClinVar ExAC dbSNP |
|
|
CA412993962 rs1468912595 |
327 | E>K | No |
ClinGen TOPMed |
|
|
CA10390307 rs771426240 |
329 | P>A | No |
ClinGen ExAC gnomAD |
|
|
RCV000999406 CA10390306 rs771426240 |
329 | P>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA10390304 rs773611672 |
330 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs747786761 CA329239939 |
330 | D>G | No |
ClinGen 1000Genomes |
|
|
CA412993900 rs1361659361 |
333 | E>K | No |
ClinGen TOPMed |
|
|
rs1393804134 CA412993880 |
334 | D>E | No |
ClinGen gnomAD |
|
|
CA412993836 rs1299448636 |
338 | S>L | No |
ClinGen TOPMed |
|
|
CA10390279 rs368238302 |
341 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA412993275 rs1392986461 |
342 | A>P | No |
ClinGen gnomAD |
|
|
CA412999778 rs750903449 |
349 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10390268 rs750903449 |
349 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412999690 rs1569337660 |
362 | D>G | No |
ClinGen Ensembl |
|
|
CA10390265 rs771782394 |
363 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA10390263 rs773896501 |
364 | S>I | No |
ClinGen ExAC gnomAD |
|
|
RCV000730789 CA412999658 rs1205947875 |
366 | K>N | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA412999646 rs1602341388 |
368 | L>P | No |
ClinGen Ensembl |
|
|
rs1396004482 CA412999616 |
372 | H>Q | No |
ClinGen gnomAD |
|
|
rs770423990 CA10390262 |
373 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs777696088 CA10390261 |
379 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA412999565 rs1345236526 |
379 | H>Q | No |
ClinGen gnomAD |
|
|
rs769489314 CA10390260 |
382 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA329233030 rs137852820 |
396 | P>A | Fg syndrome 4 (fgs4) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1417317598 CA412999433 |
397 | Q>R | No |
ClinGen TOPMed |
|
|
CA412999429 rs1259527926 |
398 | I>F | No |
ClinGen gnomAD |
|
|
rs1181139162 CA412999426 |
398 | I>N | No |
ClinGen TOPMed |
|
|
rs1555989338 RCV000627663 |
399 | R>missing | No |
ClinVar dbSNP |
|
|
CA412999422 rs1364511514 |
399 | R>G | No |
ClinGen TOPMed |
|
|
CA10390244 rs762462874 |
404 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412999358 rs1295206403 |
408 | R>K | No |
ClinGen gnomAD |
|
|
rs764470596 CA10390233 |
421 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1064796207 RCV000485165 CA16621404 |
425 | A>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA10390229 rs149798861 |
430 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163929125 CA412999168 |
433 | T>R | No |
ClinGen TOPMed |
|
|
CA10390226 rs150618425 |
438 | M>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA10390216 rs778190805 |
439 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs866245522 CA329232238 |
442 | Q>* | No |
ClinGen Ensembl |
|
|
rs1167531894 CA412998219 |
444 | H>Y | No |
ClinGen gnomAD |
|
|
CA412998177 rs1192097024 |
446 | V>I | No |
ClinGen gnomAD |
|
|
rs1477992342 CA412998062 |
452 | Y>H | No |
ClinGen gnomAD |
|
|
CA10390209 rs761351997 |
469 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA329232232 rs144185999 |
474 | E>A | No |
ClinGen ESP |
|
|
rs760502074 CA10390207 |
476 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs771717545 CA10390205 |
478 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs746136220 CA10390204 |
491 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1174419552 CA412997328 |
493 | F>L | No |
ClinGen gnomAD |
|
|
CA412997251 rs1409442804 |
498 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA412997257 rs1414249854 |
498 | D>N | No |
ClinGen gnomAD |
|
|
rs1179435345 CA412997221 |
500 | P>L | No |
ClinGen gnomAD |
|
|
rs2065379291 RCV001093499 |
503 | I>missing | No |
ClinVar dbSNP |
|
|
rs1486288807 CA412995858 |
503 | I>L | No |
ClinGen gnomAD |
|
|
RCV000484373 CA16621402 rs1064794341 |
507 | M>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA412995809 rs1217595566 |
507 | M>L | No |
ClinGen gnomAD |
|
|
rs370547220 CA329231516 |
509 | E>D | No |
ClinGen ESP TOPMed |
|
|
rs1238680611 CA412995728 |
512 | H>R | No |
ClinGen TOPMed |
|
|
CA412995626 rs1336257350 |
520 | H>Y | No |
ClinGen gnomAD |
|
|
rs1465970461 CA412995072 |
528 | G>A | No |
ClinGen TOPMed |
|
|
rs1057517923 RCV000414089 CA16043274 |
528 | G>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10390168 rs755515289 |
529 | T>I | No |
ClinGen ExAC gnomAD |
|
|
RCV000486489 CA16621401 rs755515289 |
529 | T>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1362027737 CA412995015 |
537 | R>Q | No |
ClinGen gnomAD |
|
|
rs1297266241 CA412994994 |
540 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs767410207 CA10390166 |
555 | M>L | No |
ClinGen ExAC gnomAD |
|
|
CA412994889 rs1294885149 |
555 | M>T | No |
ClinGen TOPMed |
|
|
CA10390165 rs759510154 |
556 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA10390143 rs750206706 |
564 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA16621890 rs1064797367 RCV000488408 |
567 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs765444018 CA10390142 |
568 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1306207437 CA412994445 |
569 | P>A | No |
ClinGen gnomAD |
|
|
CA412994423 rs1429244668 |
571 | Y>C | No |
ClinGen gnomAD |
|
|
rs1421702106 CA412994417 |
572 | R>C | No |
ClinGen gnomAD |
|
|
rs146282743 CA329230827 |
572 | R>H | No |
ClinGen ESP |
|
|
rs900079494 CA412994414 |
573 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
RCV000175306 CA241028 rs141840001 |
573 | T>I | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1174046579 CA412994406 |
574 | Q>R | No |
ClinGen gnomAD |
|
|
rs747813548 CA10390131 |
583 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA329229945 rs148258628 |
595 | S>R | No |
ClinGen ESP |
|
|
CA10390129 rs754445307 |
597 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1325033858 CA412994165 |
598 | N>D | No |
ClinGen TOPMed |
|
|
rs868537608 CA329229944 |
602 | S>L | No |
ClinGen TOPMed |
|
|
CA10390110 rs772048173 |
613 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs2065129571 RCV001268859 |
633 | C>Y | No |
ClinVar dbSNP |
|
|
CA10390096 rs768337263 |
634 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA233623 rs76106850 |
641 | R>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771533137 CA10390094 |
645 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555980007 RCV000505919 CA412993013 |
646 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs113560066 CA329229758 |
647 | Q>R | No |
ClinGen Ensembl |
|
|
CA16608478 RCV000443443 rs1057523820 |
673 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs974110466 CA329229755 |
675 | P>H | No |
ClinGen Ensembl |
|
|
CA412992463 rs1162012524 |
683 | A>T | No |
ClinGen TOPMed |
|
|
CA412992433 rs1368253962 |
687 | M>T | No |
ClinGen gnomAD |
|
|
rs1168411559 CA412992392 |
692 | Q>H | No |
ClinGen gnomAD |
|
|
RCV000256136 rs886039702 CA10588784 |
700 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs770937054 CA10390076 |
702 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA329228981 rs866775207 |
704 | K>E | No |
ClinGen Ensembl |
|
|
rs1427912985 CA412992275 |
708 | Y>C | No |
ClinGen gnomAD |
|
|
CA412992204 rs1165099331 |
717 | N>K | No |
ClinGen TOPMed |
|
|
CA412992207 rs1477960937 |
717 | N>S | No |
ClinGen gnomAD |
|
|
rs1569291249 CA412992011 |
719 | V>A | No |
ClinGen Ensembl |
|
|
rs12842195 CA329228980 |
719 | V>L | No |
ClinGen Ensembl |
|
|
rs1602226081 CA412991944 |
725 | L>I | No |
ClinGen Ensembl |
|
|
CA16621398 rs1064794425 RCV000485912 |
725 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1348312848 CA412991880 |
730 | E>D | No |
ClinGen gnomAD |
|
|
rs1064796488 RCV000481153 |
732 | V>missing | No |
ClinVar dbSNP |
|
|
RCV000145400 rs587783363 CA171480 |
733 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA329228448 rs199765605 |
738 | K>N | No |
ClinGen ESP |
|
|
CA412991801 rs1460299575 |
738 | K>T | No |
ClinGen TOPMed |
|
|
CA10390061 rs767270783 |
739 | R>M | No |
ClinGen ExAC gnomAD |
|
|
RCV000497647 rs1555975493 CA412991689 |
746 | G>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs886041645 RCV000399374 |
757 | N>missing | No |
ClinVar dbSNP |
|
|
CA10390050 rs747151105 |
758 | T>S | No |
ClinGen ExAC |
|
|
CA329228444 rs933546465 |
759 | L>V | No |
ClinGen TOPMed |
|
|
CA412991518 rs1441824315 |
761 | T>A | No |
ClinGen gnomAD |
|
|
rs746390137 CA10390047 |
763 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1229738433 CA412991459 |
765 | D>E | No |
ClinGen gnomAD |
|
|
CA10390046 rs373953251 |
766 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs137964936 RCV000514589 CA10390044 |
766 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA10390045 rs373953251 |
766 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA412991389 rs1454448844 |
771 | I>V | No |
ClinGen TOPMed |
|
|
CA222232 rs398123811 |
773 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA10390033 rs775519672 |
777 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA10588783 rs746017736 RCV000255476 |
782 | E>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA10390031 rs746017736 |
782 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1569288551 CA412990455 |
793 | H>Y | No |
ClinGen Ensembl |
|
|
rs146936770 CA10390030 |
794 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000412809 rs1057518245 CA16043270 |
795 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10390029 rs771473384 |
797 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs749742837 CA251308 |
798 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs749742837 CA10390028 |
798 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
RCV000482321 CA16621396 rs1064795035 |
799 | D>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10390027 rs778228332 |
802 | N>K | No |
ClinGen ExAC |
|
|
rs758118296 CA10390023 |
809 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA16621395 RCV000481292 rs1064796884 |
809 | G>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA412990223 rs1235769310 |
812 | E>K | No |
ClinGen TOPMed |
|
|
CA10390021 rs761873670 |
815 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412990167 rs1220406933 |
816 | Y>C | No |
ClinGen gnomAD |
|
|
rs1420287454 CA412990096 |
822 | T>I | No |
ClinGen TOPMed |
|
|
CA329228202 rs192044507 |
828 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA10390016 rs192044507 |
828 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1365607249 CA412990020 |
829 | Q>H | No |
ClinGen gnomAD |
|
|
CA10390015 rs774433205 |
830 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA412989986 rs1569288273 |
833 | A>T | No |
ClinGen Ensembl |
|
|
rs1372580366 CA412989971 |
834 | I>T | No |
ClinGen gnomAD |
|
|
CA412989956 rs1427577928 |
836 | D>H | No |
ClinGen gnomAD |
|
|
rs768962946 CA10390013 |
837 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA10390012 rs778081066 |
839 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1197990262 CA412989906 |
840 | Q>R | No |
ClinGen gnomAD |
|
|
CA10389985 rs770243484 |
841 | A>E | No |
ClinGen ExAC |
|
|
RCV000255475 rs886039651 CA10588781 |
843 | K>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10389984 rs748666560 |
844 | V>G | No |
ClinGen ExAC |
|
|
CA412989195 rs1263059571 |
851 | A>V | No |
ClinGen gnomAD |
|
|
CA412989162 rs1229133568 |
855 | V>I | No |
ClinGen gnomAD |
|
|
CA412989147 rs1331299419 |
856 | F>S | No |
ClinGen gnomAD |
|
|
rs979211562 CA329227632 |
858 | A>T | No |
ClinGen TOPMed |
|
|
rs1286483030 CA412989111 |
859 | A>V | No |
ClinGen gnomAD |
|
|
rs1334633074 CA412989075 |
865 | G>D | No |
ClinGen gnomAD |
|
|
CA412989020 rs1266324025 |
871 | S>C | No |
ClinGen gnomAD |
|
|
CA412989002 rs1204576497 |
874 | R>C | No |
ClinGen gnomAD |
|
|
CA412988957 rs1602202889 |
880 | D>E | No |
ClinGen Ensembl |
|
|
CA412988959 rs1246778355 |
880 | D>G | No |
ClinGen gnomAD |
|
|
rs766656389 CA10389971 |
881 | I>F | No |
ClinGen ExAC gnomAD |
|
|
RCV000334606 CA10603670 rs886041306 |
882 | L>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs947512647 CA329226823 |
890 | F>V | No |
ClinGen gnomAD |
|
|
rs1438737021 CA412988886 |
891 | D>N | No |
ClinGen gnomAD |
|
|
CA412988865 rs1318022389 |
894 | I>V | No |
ClinGen gnomAD |
|
|
rs762230615 CA10389967 |
897 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1401249538 CA412988825 |
899 | I>T | No |
ClinGen TOPMed |
|
|
rs1391054241 CA412988817 |
900 | D>V | No |
ClinGen gnomAD |
|
|
rs1456018910 CA412988799 |
903 | I>V | No |
ClinGen gnomAD |
|
|
CA329226822 rs192186529 |
909 | A>D | No |
ClinGen 1000Genomes |
|
|
CA10389966 rs777220099 |
912 | L>F | No |
ClinGen ExAC gnomAD |
|
|
RCV000523441 CA10389964 rs374765049 |
913 | V>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs775963628 CA10389963 |
915 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs747709297 CA10389962 |
917 | P>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA412988690 RCV000627199 rs1555971887 |
919 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA412988670 rs1292052935 |
923 | S>T | No |
ClinGen gnomAD |
|
|
rs748918088 CA10389961 |
926 | Y>C | No |
ClinGen ExAC gnomAD |
2 associated diseases with O14936
[MIM: 300749]: Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia (MICPCH)
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Affected individuals can manifest a severe phenotype consisting of severe intellectual deficit, congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia. A milder phenotype consists of intellectual disability alone or associated with nystagmus. {ECO:0000269|PubMed:19165920, ECO:0000269|PubMed:19377476}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 300422]: FG syndrome 4 (FGS4)
FG syndrome (FGS) is an X-linked disorder characterized by intellectual disability, relative macrocephaly, hypotonia and constipation. {ECO:0000269|PubMed:19200522}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Affected individuals can manifest a severe phenotype consisting of severe intellectual deficit, congenital or postnatal microcephaly, disproportionate brainstem and cerebellar hypoplasia. A milder phenotype consists of intellectual disability alone or associated with nystagmus. {ECO:0000269|PubMed:19165920, ECO:0000269|PubMed:19377476}. Note=The disease is caused by variants affecting the gene represented in this entry.
- FG syndrome (FGS) is an X-linked disorder characterized by intellectual disability, relative macrocephaly, hypotonia and constipation. {ECO:0000269|PubMed:19200522}. Note=The disease is caused by variants affecting the gene represented in this entry.
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.1 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | PTHR23122 | MEMBRANE-ASSOCIATED GUANYLATE KINASE MAGUK |
| PANTHER Subfamily | PTHR23122:SF40 | PERIPHERAL PLASMA MEMBRANE PROTEIN CASK |
| PANTHER Protein Class | scaffold/adaptor protein | |
| PANTHER Pathway Category |
Parkinson disease CASK Inflammation mediated by chemokine and cytokine signaling pathway CaMK |
|
15 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| basement membrane | A collagen-containing extracellular matrix consisting of a thin layer of dense material found in various animal tissues interposed between the cells and the adjacent connective tissue. It consists of the basal lamina plus an associated layer of reticulin fibers. |
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| cell-cell junction | A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects. |
| ciliary membrane | The portion of the plasma membrane surrounding a cilium. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| focal adhesion | A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ). |
| nuclear lamina | The fibrous, electron-dense layer lying on the nucleoplasmic side of the inner membrane of a cell nucleus, composed of lamin filaments. The polypeptides of the lamina are thought to be concerned in the dissolution of the nuclear envelope and its re-formation during mitosis. The lamina is composed of lamin A and lamin C filaments cross-linked into an orthogonal lattice, which is attached via lamin B to the inner nuclear membrane through interactions with a lamin B receptor, an IFAP, in the membrane. |
| nuclear matrix | The dense fibrillar network lying on the inner side of the nuclear membrane. |
| nucleolus | A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| presynaptic membrane | A specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction; many synaptic junctions exhibit structural presynaptic characteristics, such as conical, electron-dense internal protrusions, that distinguish it from the remainder of the axon plasma membrane. |
| Schaffer collateral - CA1 synapse | A synapse between the Schaffer collateral axon of a CA3 pyramidal cell and a CA1 pyramidal cell. |
| vesicle | Any small, fluid-filled, spherical organelle enclosed by membrane. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
| guanylate kinase activity | Catalysis of the reaction: ATP + GMP = ADP + GDP. |
| neurexin family protein binding | Binding to a neurexin, a synaptic cell surface protein related to latrotoxin receptor, laminin and agrin. Neurexins act as cell recognition molecules at nerve terminals. |
| protein serine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate. |
| protein serine/threonine kinase activity | Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. |
| protein serine/threonine/tyrosine kinase activity | Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate. |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| calcium ion import | The directed movement of calcium ions into a cell or organelle. |
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| negative regulation of cell-matrix adhesion | Any process that stops, prevents, or reduces the rate or extent of cell adhesion to the extracellular matrix. |
| negative regulation of cellular response to growth factor stimulus | Any process that decreases the rate, frequency, or extent of a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a growth factor stimulus. |
| negative regulation of keratinocyte proliferation | Any process that decreases the rate, frequency or extent of keratinocyte proliferation. Keratinocyte proliferation is the multiplication or reproduction of keratinocytes, resulting in the expansion of a cell population. |
| negative regulation of wound healing | Any process that decreases the rate, frequency, or extent of the series of events that restore integrity to a damaged tissue, following an injury. |
| positive regulation of calcium ion import | Any process that increases the rate, frequency, or extent of the directed movement of calcium ions into a cell or organelle. |
| positive regulation of transcription by RNA polymerase II | Any process that activates or increases the frequency, rate or extent of transcription from an RNA polymerase II promoter. |
| regulation of synaptic vesicle exocytosis | Any process that modulates the frequency, rate or extent of synaptic vesicle exocytosis. |
33 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3MHJ9 | CAMK2B | Calcium/calmodulin-dependent protein kinase type II subunit beta | Bos taurus (Bovine) | SS |
| Q2HJF7 | CAMK2D | Calcium/calmodulin-dependent protein kinase type II subunit delta | Bos taurus (Bovine) | SS |
| Q5ZKI0 | CAMK2D | Calcium/calmodulin-dependent protein kinase type II delta chain | Gallus gallus (Chicken) | SS |
| Q00168 | CaMKII | Calcium/calmodulin-dependent protein kinase type II alpha chain | Drosophila melanogaster (Fruit fly) | SS |
| Q24210 | CASK | Peripheral plasma membrane protein CASK | Drosophila melanogaster (Fruit fly) | SS |
| Q13555 | CAMK2G | Calcium/calmodulin-dependent protein kinase type II subunit gamma | Homo sapiens (Human) | EV |
| Q13557 | CAMK2D | Calcium/calmodulin-dependent protein kinase type II subunit delta | Homo sapiens (Human) | EV |
| Q13554 | CAMK2B | Calcium/calmodulin-dependent protein kinase type II subunit beta | Homo sapiens (Human) | EV |
| Q9UQM7 | CAMK2A | Calcium/calmodulin-dependent protein kinase type II subunit alpha | Homo sapiens (Human) | EV |
| Q00013 | MPP1 | 55 kDa erythrocyte membrane protein | Homo sapiens (Human) | PR |
| Q9NZW5 | PALS2 | Protein PALS2 | Homo sapiens (Human) | PR |
| Q14168 | MPP2 | MAGUK p55 subfamily member 2 | Homo sapiens (Human) | PR |
| Q96JB8 | MPP4 | MAGUK p55 subfamily member 4 | Homo sapiens (Human) | PR |
| Q9WV34 | Mpp2 | MAGUK p55 subfamily member 2 | Mus musculus (Mouse) | PR |
| P70290 | Mpp1 | 55 kDa erythrocyte membrane protein | Mus musculus (Mouse) | PR |
| O88910 | Mpp3 | MAGUK p55 subfamily member 3 | Mus musculus (Mouse) | PR |
| Q6P7F1 | Mpp4 | MAGUK p55 subfamily member 4 | Mus musculus (Mouse) | PR |
| Q8BVD5 | Mpp7 | MAGUK p55 subfamily member 7 | Mus musculus (Mouse) | PR |
| Q9JLB0 | Pals2 | Protein PALS2 | Mus musculus (Mouse) | PR |
| Q923T9 | Camk2g | Calcium/calmodulin-dependent protein kinase type II subunit gamma | Mus musculus (Mouse) | SS |
| P11798 | Camk2a | Calcium/calmodulin-dependent protein kinase type II subunit alpha | Mus musculus (Mouse) | PR |
| Q6PHZ2 | Camk2d | Calcium/calmodulin-dependent protein kinase type II subunit delta | Mus musculus (Mouse) | SS |
| P28652 | Camk2b | Calcium/calmodulin-dependent protein kinase type II subunit beta | Mus musculus (Mouse) | SS |
| O70589 | Cask | Peripheral plasma membrane protein CASK | Mus musculus (Mouse) | SS |
| Q95266 | CAMK2D | Calcium/calmodulin-dependent protein kinase type II subunit delta | Sus scrofa (Pig) | SS |
| Q9QYH1 | Mpp4 | MAGUK p55 subfamily member 4 | Rattus norvegicus (Rat) | PR |
| P15791 | Camk2d | Calcium/calmodulin-dependent protein kinase type II subunit delta | Rattus norvegicus (Rat) | SS |
| P11275 | Camk2a | Calcium/calmodulin-dependent protein kinase type II subunit alpha | Rattus norvegicus (Rat) | PR |
| P11730 | Camk2g | Calcium/calmodulin-dependent protein kinase type II subunit gamma | Rattus norvegicus (Rat) | SS |
| O62305 | unc-43 | Calcium/calmodulin-dependent protein kinase type II | Caenorhabditis elegans | EV |
| P54936 | lin-2 | Protein lin-2 | Caenorhabditis elegans | SS |
| Q6DGS3 | camk2d2 | Calcium/calmodulin-dependent protein kinase type II delta 2 chain | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q6DEH3 | camk2d1 | Calcium/calmodulin-dependent protein kinase type II delta 1 chain | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MADDDVLFED | VYELCEVIGK | GPFSVVRRCI | NRETGQQFAV | KIVDVAKFTS | SPGLSTEDLK |
| 70 | 80 | 90 | 100 | 110 | 120 |
| REASICHMLK | HPHIVELLET | YSSDGMLYMV | FEFMDGADLC | FEIVKRADAG | FVYSEAVASH |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YMRQILEALR | YCHDNNIIHR | DVKPHCVLLA | SKENSAPVKL | GGFGVAIQLG | ESGLVAGGRV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GTPHFMAPEV | VKREPYGKPV | DVWGCGVILF | ILLSGCLPFY | GTKERLFEGI | IKGKYKMNPR |
| 250 | 260 | 270 | 280 | 290 | 300 |
| QWSHISESAK | DLVRRMLMLD | PAERITVYEA | LNHPWLKERD | RYAYKIHLPE | TVEQLRKFNA |
| 310 | 320 | 330 | 340 | 350 | 360 |
| RRKLKGAVLA | AVSSHKFNSF | YGDPPEELPD | FSEDPTSSGL | LAAERAVSQV | LDSLEEIHAL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TDCSEKDLDF | LHSVFQDQHL | HTLLDLYDKI | NTKSSPQIRN | PPSDAVQRAK | EVLEEISCYP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ENNDAKELKR | ILTQPHFMAL | LQTHDVVAHE | VYSDEALRVT | PPPTSPYLNG | DSPESANGDM |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DMENVTRVRL | VQFQKNTDEP | MGITLKMNEL | NHCIVARIMH | GGMIHRQGTL | HVGDEIREIN |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GISVANQTVE | QLQKMLREMR | GSITFKIVPS | YRTQSSSCER | DSPSTSRQSP | ANGHSSTNNS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| VSDLPSTTQP | KGRQIYVRAQ | FEYDPAKDDL | IPCKEAGIRF | RVGDIIQIIS | KDDHNWWQGK |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LENSKNGTAG | LIPSPELQEW | RVACIAMEKT | KQEQQASCTW | FGKKKKQYKD | KYLAKHNAVF |
| 730 | 740 | 750 | 760 | 770 | 780 |
| DQLDLVTYEE | VVKLPAFKRK | TLVLLGAHGV | GRRHIKNTLI | TKHPDRFAYP | IPHTTRPPKK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| DEENGKNYYF | VSHDQMMQDI | SNNEYLEYGS | HEDAMYGTKL | ETIRKIHEQG | LIAILDVEPQ |
| 850 | 860 | 870 | 880 | 890 | 900 |
| ALKVLRTAEF | APFVVFIAAP | TITPGLNEDE | SLQRLQKESD | ILQRTYAHYF | DLTIINNEID |
| 910 | 920 | ||||
| ETIRHLEEAV | ELVCTAPQWV | PVSWVY |