O43307
SS
Gene name |
ARHGEF9 (ARHDH9, KIAA0424) |
Protein name |
Rho guanine nucleotide exchange factor 9 |
Names |
Collybistin, PEM-2 homolog, Rac/Cdc42 guanine nucleotide exchange factor 9 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23229 |
EC number |
|
Protein Class |
|
Descriptions
ARHGEF9 is a guanine nucleotide exchange factor (GEF). In the absence of the mutated APC, SH3 domain binds the Rac-binding site on DH domain, and therefore, the guanine nucleotide exchange activity is autoinhibited.
Autoinhibitory domains (AIDs)
Target domain |
103-287 (DH domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
References
- Hamann MJ et al. (2007) "Asef2 functions as a Cdc42 exchange factor and is stimulated by the release of an autoinhibitory module from a concealed C-terminal activation element", Molecular and cellular biology, 27, 1380-93
- Murayama K et al. (2007) "Crystal structure of the rac activator, Asef, reveals its autoinhibitory mechanism", The Journal of biological chemistry, 282, 4238-4242
- Harvey K et al. (2004) "The GDP-GTP exchange factor collybistin: an essential determinant of neuronal gephyrin clustering", The Journal of neuroscience : the official journal of the Society for Neuroscience, 24, 5816-26
- Mitin N et al. (2007) "Release of autoinhibition of ASEF by APC leads to CDC42 activation and tumor suppression", Nature structural & molecular biology, 14, 814-23
- Ravala SK et al. (2020) "The first DEP domain of the RhoGEF P-Rex1 autoinhibits activity and contributes to membrane binding", The Journal of biological chemistry, 295, 12635-12647
Autoinhibited structure
Activated structure
2 structures for O43307
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 2YSQ | NMR | - | A | 7-75 | PDB |
| AF-O43307-F1 | Predicted | AlphaFoldDB |
179 variants for O43307
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA413404357 RCV000717874 rs1569491685 |
22 | M>I | History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1602577529 RCV000990844 CA413403898 |
53 | E>* | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA255660 VAR_028752 RCV000011796 rs121918361 |
55 | G>A | Developmental and epileptic encephalopathy, 8 DEE8; affects dendritic gephrin clustering and trafficking of GABA-A receptors to synapses [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000705283 rs377326713 CA10431973 |
78 | D>V | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs782087438 CA413402061 RCV000718586 |
95 | R>L | History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA413402012 RCV001045879 rs1556401755 |
100 | R>W | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1556401714 CA413401931 RCV000723327 RCV000498530 |
104 | R>Q | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs2052539418 RCV001251162 |
118 | Y>* | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1394345886 RCV000686743 CA413407149 |
141 | S>G | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000701679 CA10431937 rs781955551 |
144 | Q>K | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001281080 rs2051813469 |
172 | N>S | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1556389083 RCV000585853 CA413406856 |
181 | G>R | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA413406820 RCV000640878 rs1556388997 |
186 | E>G | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA413406638 rs1384182085 RCV000823146 |
206 | M>I | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs2050412325 RCV001198047 RCV001569841 |
211 | L>V | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000693059 rs782139620 CA10431920 |
216 | R>C | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2050407403 RCV001253710 |
239 | L>* | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002056983 CA206589 rs782497496 RCV000193241 |
254 | A>S | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001266235 rs2050117690 |
285 | N>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001249522 rs2050116764 |
287 | R>H | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
CA413406037 rs1135401795 RCV000496205 RCV000627195 |
289 | R>* | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001249523 RCV001879754 rs2050115619 |
290 | R>C | Developmental and epileptic encephalopathy, 8 Autism spectrum disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
CA413405959 RCV000656417 rs1556358991 |
300 | W>* | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA413405953 RCV000688747 rs1569458475 |
301 | Q>* | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA413405729 RCV000720565 rs1569451962 |
316 | S>I | History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1602300014 CA413405722 RCV000824886 |
317 | S>L | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs869312941 RCV000210722 CA358247 |
338 | R>W | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000430990 CA10431873 rs782248986 RCV000685616 |
347 | M>L | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs2048831313 RCV001824943 RCV001587309 RCV001267081 |
365 | R>H | Developmental and epileptic encephalopathy, 1 Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001249521 rs2048829571 |
374 | V>F | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2048829340 RCV001034099 |
375 | D>N | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000717485 CA10431855 rs781988728 RCV000731180 |
388 | M>V | History of neurodevelopmental disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs56110425 CA10431854 RCV000558962 |
402 | I>V | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000691206 rs1569441733 CA413404049 |
425 | K>E | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000991201 rs1602253296 |
429 | E>missing | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs2048820687 RCV001266196 |
434 | G>S | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
CA10431814 rs781870482 RCV000687487 |
461 | A>S | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001251680 CA413401456 rs1556301404 |
462 | R>C | Intellectual disability [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA413401353 rs1556301359 RCV000543215 |
467 | S>P | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA413401157 RCV000702734 rs1365914320 |
485 | G>S | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000640879 rs1556301016 CA413401145 |
487 | A>T | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000640877 rs1556300769 CA413401015 |
505 | W>* | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1556300759 CA413401004 RCV000522842 RCV001205062 |
507 | N>H | Developmental and epileptic encephalopathy, 8 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA10431997 rs782237698 |
8 | D>E | No |
ClinGen ExAC gnomAD |
|
|
RCV000421684 rs55868891 CA230910 |
10 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1556415925 CA413404530 COSM1626021 |
11 | V>I | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA413404473 rs1251027071 |
15 | A>T | No |
ClinGen TOPMed |
|
|
CA413404450 rs1556415910 |
16 | V>A | No |
ClinGen Ensembl |
|
|
CA413404404 rs1569491711 COSM1558507 |
19 | H>Y | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs781899711 CA330344250 |
20 | V>I | No |
ClinGen gnomAD |
|
|
rs1431530716 CA413404331 |
24 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA413404333 rs1431530716 |
24 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA10431995 rs782244025 |
25 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10431990 rs782483299 |
34 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413404155 rs1556415814 |
36 | K>Q | No |
ClinGen gnomAD |
|
|
CA10431989 RCV000503468 RCV000943470 rs781823638 |
49 | Q>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs374489713 CA10431987 |
51 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374489713 CA10431988 |
51 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA413402554 RCV001008675 rs1602491118 |
65 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA413402465 rs1556402200 |
70 | D>N | No |
ClinGen gnomAD |
|
|
rs868932053 CA413402417 |
71 | E>D | No |
ClinGen Ensembl |
|
|
rs1425104224 CA413402412 |
72 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1556402117 CA413402320 |
76 | P>L | No |
ClinGen gnomAD |
|
|
rs199792236 CA10431975 |
77 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782592052 CA10431974 |
78 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1556402053 CA413402287 |
79 | V>L | No |
ClinGen gnomAD |
|
|
rs373001354 CA10431972 |
80 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA413402277 rs1602490706 |
80 | Q>K | No |
ClinGen Ensembl |
|
|
CA330343752 rs267606493 |
82 | G>R | No |
ClinGen gnomAD |
|
|
RCV000195209 CA209874 rs797045261 |
82 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10431968 rs782765210 |
84 | L>M | No |
ClinGen ExAC gnomAD |
|
|
RCV000328422 rs886044863 CA10605672 COSM4136333 |
87 | N>S | ovary [Cosmic] | No |
ClinGen cosmic curated ClinVar TOPMed dbSNP |
|
rs1057524386 CA16608970 |
90 | C>R | No |
ClinGen gnomAD |
|
|
rs1556401828 CA413402117 |
91 | L>P | No |
ClinGen gnomAD |
|
|
CA413402123 rs1556401847 |
91 | L>V | No |
ClinGen gnomAD |
|
|
rs1377348559 CA413402085 |
94 | G>R | No |
ClinGen TOPMed |
|
|
CA10431967 rs782087438 |
95 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10431966 rs376362835 |
100 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1241851329 CA413401720 |
113 | S>R | No |
ClinGen TOPMed |
|
|
CA413401666 COSM1242005 rs1353460994 |
116 | R>C | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
RCV000995925 rs868956996 CA413401642 |
116 | R>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs868956996 CA413401640 |
116 | R>L | No |
ClinGen Ensembl |
|
|
CA16608544 RCV000442109 rs1057523510 |
123 | K>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA10431942 rs782418528 |
134 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA10431943 rs782001294 |
134 | R>W | No |
ClinGen ExAC TOPMed |
|
|
rs782145415 CA10431941 |
135 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1556389588 CA413407167 |
139 | M>V | No |
ClinGen gnomAD |
|
|
CA413407147 rs1464533929 |
141 | S>N | No |
ClinGen TOPMed |
|
|
rs782237174 CA10431938 |
143 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA330343509 rs7882107 |
151 | N>D | No |
ClinGen Ensembl |
|
|
rs1556389367 CA413407072 |
152 | I>V | No |
ClinGen gnomAD |
|
|
rs782246639 CA10431935 |
154 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA413407009 rs1556389280 |
160 | M>T | No |
ClinGen gnomAD |
|
|
rs1391020284 CA413406989 |
163 | V>L | No |
ClinGen TOPMed |
|
|
rs868924327 CA413406980 |
164 | R>I | No |
ClinGen Ensembl |
|
|
CA413406924 rs1556389172 |
172 | N>D | No |
ClinGen gnomAD |
|
|
CA413406884 rs1556389146 |
177 | L>F | No |
ClinGen gnomAD |
|
|
rs1602446549 CA413406872 |
179 | E>K | No |
ClinGen Ensembl |
|
|
CA413406843 rs1556389035 |
183 | C>G | No |
ClinGen gnomAD |
|
|
CA10431921 rs782736990 |
214 | D>A | No |
ClinGen ExAC gnomAD |
|
|
COSM1283494 rs1556365349 CA413406566 |
216 | R>H | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs782409710 CA10431919 |
219 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1556365307 CA413406516 |
223 | A>T | No |
ClinGen gnomAD |
|
|
CA413406446 rs1556365255 |
232 | D>G | No |
ClinGen gnomAD |
|
|
rs782266558 CA10431918 |
236 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA413406383 rs1556365146 |
242 | P>S | No |
ClinGen gnomAD |
|
|
rs1487295213 CA413406362 |
245 | K>E | No |
ClinGen TOPMed |
|
|
CA413406280 rs1602360899 |
256 | L>P | No |
ClinGen Ensembl |
|
|
CA413406192 rs1085307467 RCV000489653 |
267 | Y>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1556359199 CA413406170 |
270 | V>M | No |
ClinGen gnomAD |
|
|
CA10431893 COSM1644049 rs782201685 |
289 | R>Q | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA413406005 rs1556359038 RCV000499378 |
294 | I>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1556359022 CA413405991 |
295 | D>E | No |
ClinGen gnomAD |
|
|
rs781898277 CA330342885 |
299 | Q>H | No |
ClinGen 1000Genomes |
|
|
CA413405941 rs1556358965 |
302 | A>G | No |
ClinGen gnomAD |
|
|
RCV000439755 CA16608897 rs1057522323 |
305 | L>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs143490560 CA10431890 |
306 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782166488 RCV000428238 CA10431879 |
310 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA10431878 RCV001092794 rs781938857 |
312 | I>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA413405725 rs1556347476 |
317 | S>T | No |
ClinGen gnomAD |
|
|
CA413405699 rs1395411373 |
321 | Y>H | No |
ClinGen TOPMed |
|
|
CA10431876 rs782103101 RCV000424142 |
333 | G>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1556347347 CA413405603 |
334 | R>H | No |
ClinGen gnomAD |
|
|
CA413405597 rs1556347319 |
335 | N>S | No |
ClinGen gnomAD |
|
|
CA413405572 rs1556347281 |
339 | V>I | No |
ClinGen gnomAD |
|
|
rs782390660 CA10431874 |
344 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs7063931 CA330342681 |
348 | V>G | No |
ClinGen Ensembl |
|
|
COSM1599634 RCV000087223 CA229148 rs483352738 |
349 | L>I | endometrium [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
CA413404821 rs1556335112 |
356 | R>Q | No |
ClinGen gnomAD |
|
|
rs782786513 CA10431860 COSM1599635 |
356 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs886044798 RCV000392236 CA10604302 |
364 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs781839434 CA10431858 |
366 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA413404736 rs1602254032 |
368 | M>I | No |
ClinGen Ensembl |
|
|
rs782731954 CA10431857 |
372 | E>D | No |
ClinGen ExAC |
|
|
CA413404702 rs1556334942 |
373 | V>I | No |
ClinGen gnomAD |
|
|
CA16603298 rs1057520158 RCV000430844 |
376 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA413404625 rs1216697234 |
383 | D>E | No |
ClinGen TOPMed |
|
|
CA413404591 rs1556334879 RCV000523793 |
385 | N>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1556334858 CA413404579 |
386 | V>I | No |
ClinGen gnomAD |
|
|
rs782136868 CA10431856 |
387 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1556334770 CA413404376 |
400 | E>D | No |
ClinGen Ensembl |
|
|
CA10431853 rs782150415 |
405 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA413404308 rs1085307842 RCV000489622 |
406 | F>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs782304484 CA10431851 |
411 | E>K | No |
ClinGen ExAC |
|
|
rs1556334685 CA413404219 |
412 | E>D | No |
ClinGen gnomAD |
|
|
RCV001008461 rs1602253507 |
414 | I>missing | No |
ClinVar dbSNP |
|
|
CA413404202 rs1556334668 |
414 | I>V | No |
ClinGen gnomAD |
|
|
rs782224124 CA10431850 |
415 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA413404187 rs1556334640 |
415 | R>H | No |
ClinGen gnomAD |
|
|
CA413403972 rs1556334562 |
430 | D>Y | No |
ClinGen Ensembl |
|
|
CA10431827 rs141815718 |
437 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413402604 rs1463057337 |
446 | A>S | No |
ClinGen TOPMed |
|
|
CA10431826 rs781940372 |
454 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs782206262 CA10431813 |
463 | S>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782163767 CA10431812 |
467 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA413401303 rs1556301324 |
470 | P>L | No |
ClinGen gnomAD |
|
|
rs371605184 CA10431811 |
471 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA413401279 rs1556301281 |
472 | Q>R | No |
ClinGen gnomAD |
|
|
CA413401209 rs1172781772 |
476 | N>K | No |
ClinGen TOPMed |
|
|
CA10431808 rs781952701 |
477 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1371313485 CA413401200 |
478 | G>S | No |
ClinGen TOPMed |
|
|
rs1429108797 CA413401190 |
479 | Q>R | No |
ClinGen TOPMed |
|
|
CA10431805 rs369081815 |
482 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs374753195 CA10431801 |
484 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA10431799 rs374753195 |
484 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782577519 CA10431802 |
484 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA10431798 rs782509011 |
486 | I>L | No |
ClinGen ExAC |
|
|
rs1556300990 CA413401126 |
489 | S>L | No |
ClinGen gnomAD |
|
|
CA10431794 rs371200226 |
490 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782744834 CA10431793 |
491 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA413401100 rs1342273610 |
493 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA413401083 rs1203752009 |
496 | E>K | No |
ClinGen TOPMed |
|
|
CA413401073 rs1556300901 |
497 | P>S | No |
ClinGen gnomAD |
|
|
rs1556300886 CA413401065 |
498 | K>R | No |
ClinGen gnomAD |
|
|
rs1272428374 CA413401061 |
499 | R>C | No |
ClinGen TOPMed |
|
|
COSM1151677 CA10431791 rs781858542 |
499 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1556300834 CA413401041 |
501 | Q>H | No |
ClinGen gnomAD |
|
|
CA10431789 rs782155062 |
502 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA413400941 rs1556300736 |
515 | K>R | No |
ClinGen gnomAD |
1 associated diseases with O43307
[MIM: 300607]: Developmental and epileptic encephalopathy 8 (DEE8)
A disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and intellectual disability. Seizures can be provoked by tactile stimulation or extreme emotion. {ECO:0000269|PubMed:15215304, ECO:0000269|PubMed:22612257, ECO:0000269|PubMed:25678704}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by hyperekplexia and early infantile epileptic encephalopathy. Neurologic features include exaggerated startle response, seizures, impaired psychomotor development, and intellectual disability. Seizures can be provoked by tactile stimulation or extreme emotion. {ECO:0000269|PubMed:15215304, ECO:0000269|PubMed:22612257, ECO:0000269|PubMed:25678704}. Note=The disease is caused by variants affecting the gene represented in this entry.
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| postsynaptic density | An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| guanyl-nucleotide exchange factor activity | Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions. |
1 GO annotations of biological process
| Name | Definition |
|---|---|
| regulation of small GTPase mediated signal transduction | Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q58DL7 | ARHGEF9 | Rho guanine nucleotide exchange factor 9 | Bos taurus (Bovine) | SS |
| Q70Z35 | PREX2 | Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein | Homo sapiens (Human) | SS |
| Q6XZF7 | DNMBP | Dynamin-binding protein | Homo sapiens (Human) | PR |
| A1IGU5 | ARHGEF37 | Rho guanine nucleotide exchange factor 37 | Homo sapiens (Human) | PR |
| Q8TCU6 | PREX1 | Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein | Homo sapiens (Human) | EV |
| Q9NR80 | ARHGEF4 | Rho guanine nucleotide exchange factor 4 | Homo sapiens (Human) | EV |
| Q96N96 | SPATA13 | Spermatogenesis-associated protein 13 | Homo sapiens (Human) | EV |
| Q5DU57 | Spata13 | Spermatogenesis-associated protein 13 | Mus musculus (Mouse) | SS |
| Q3LAC4 | Prex2 | Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein | Mus musculus (Mouse) | SS |
| Q69ZK0 | Prex1 | Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein | Mus musculus (Mouse) | SS |
| Q7TNR9 | Arhgef4 | Rho guanine nucleotide exchange factor 4 | Mus musculus (Mouse) | EV |
| Q3UTH8 | Arhgef9 | Rho guanine nucleotide exchange factor 9 | Mus musculus (Mouse) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTLLITGDSI | VSAEAVWDHV | TMANRELAFK | AGDVIKVLDA | SNKDWWWGQI | DDEEGWFPAS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| FVRLWVNQED | EVEEGPSDVQ | NGHLDPNSDC | LCLGRPLQNR | DQMRANVINE | IMSTERHYIK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| HLKDICEGYL | KQCRKRRDMF | SDEQLKVIFG | NIEDIYRFQM | GFVRDLEKQY | NNDDPHLSEI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GPCFLEHQDG | FWIYSEYCNN | HLDACMELSK | LMKDSRYQHF | FEACRLLQQM | IDIAIDGFLL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TPVQKICKYP | LQLAELLKYT | AQDHSDYRYV | AAALAVMRNV | TQQINERKRR | LENIDKIAQW |
| 310 | 320 | 330 | 340 | 350 | 360 |
| QASVLDWEGE | DILDRSSELI | YTGEMAWIYQ | PYGRNQQRVF | FLFDHQMVLC | KKDLIRRDIL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YYKGRIDMDK | YEVVDIEDGR | DDDFNVSMKN | AFKLHNKETE | EIHLFFAKKL | EEKIRWLRAF |
| 430 | 440 | 450 | 460 | 470 | 480 |
| REERKMVQED | EKIGFEISEN | QKRQAAMTVR | KVPKQKGVNS | ARSVPPSYPP | PQDPLNHGQY |
| 490 | 500 | 510 | |||
| LVPDGIAQSQ | VFEFTEPKRS | QSPFWQNFSR | LTPFKK |