Q96AC1
SS
Gene name |
FERMT2 (KIND2, MIG2, PLEKHC1) |
Protein name |
Fermitin family homolog 2 |
Names |
Kindlin-2 , Mitogen-inducible gene 2 protein , MIG-2 , Pleckstrin homology domain-containing family C member 1 , PH domain-containing family C member 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10979 |
EC number |
|
Protein Class |
|
Descriptions
Kindlin-3 is a member of the kindlin family of focal adhesion proteins which bind to integrin beta-chain cytoplasmic domains to regulate integrin function. kindlin-3 is maintained in a homotrimer state, which is different from the monomer that binds integrin β cytoplasmic tails. The trimer formation of kindlin-3 results in an autoinhibited state, as the integrin-binding pocket is blocked by the pleckstrin homology (PH) domain of another protomer. Mutations disrupting the trimer interface (Q471A, A475F, S478A) lead to increased integrin-mediated cell adhesion and spreading, indicating relief from autoinhibition. This autoinhibition regulates kindlin-3’s role in integrin activation and signaling, with implications for diseases like leukocyte adhesion deficiency (LAD) III and cancer.
Autoinhibitory domains (AIDs)
Target domain |
584-680 (F3 subdomain) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
398 variants for Q96AC1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA389765025 rs1396171191 |
2 | A>V | No |
ClinGen TOPMed |
|
|
CA260970116 rs1014128205 |
9 | P>L | No |
ClinGen gnomAD |
|
|
rs375271458 CA7190877 |
9 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7190876 rs752338370 |
11 | G>D | No |
ClinGen ExAC |
|
|
rs1207666569 CA389764835 |
12 | C>R | No |
ClinGen gnomAD |
|
|
CA389764797 rs1349604494 |
13 | Y>C | No |
ClinGen gnomAD |
|
|
CA389764762 rs1595036156 |
15 | D>G | No |
ClinGen Ensembl |
|
|
CA7190874 rs759037991 |
16 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs765933489 CA7190872 |
19 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7190871 rs150070069 |
21 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1436601340 CA389764617 |
23 | H>L | No |
ClinGen gnomAD |
|
|
CA7190868 rs147527926 COSM470026 |
23 | H>Y | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA389764591 rs1376312261 |
24 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1158228923 CA389764486 |
29 | R>L | No |
ClinGen gnomAD |
|
|
CA7190866 rs768926763 |
30 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423736804 CA389764462 |
31 | V>F | No |
ClinGen gnomAD |
|
|
CA7190863 rs772096782 |
33 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779368437 CA7190861 |
36 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1310432742 CA389764406 |
38 | E>K | No |
ClinGen gnomAD |
|
|
rs1595036007 CA389764379 |
39 | V>G | No |
ClinGen Ensembl |
|
|
rs1382529450 CA389764387 |
39 | V>M | No |
ClinGen TOPMed |
|
|
CA7190859 rs754229262 |
40 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA7190858 rs777937138 |
41 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1595035974 CA389764308 |
44 | V>G | No |
ClinGen Ensembl |
|
|
CA389764313 rs1418082135 |
44 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 45 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1387676054 CA389764290 |
46 | L>F | No |
ClinGen gnomAD |
|
|
CA389764286 rs908659867 |
46 | L>P | No |
ClinGen Ensembl |
|
|
rs908659867 CA260970075 |
46 | L>R | No |
ClinGen Ensembl |
|
|
COSM376622 CA7190856 rs751207572 |
47 | K>Q | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1367257957 CA389764268 |
48 | L>V | No |
ClinGen gnomAD |
|
|
rs1167697699 CA389764236 |
50 | E>D | No |
ClinGen gnomAD |
|
|
CA7190855 rs766018321 |
51 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1326143430 CA389764225 |
51 | K>T | No |
ClinGen gnomAD |
|
|
CA7190854 rs762521614 |
53 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1225761410 | 57 | D>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 57 | D>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA260961084 rs922549131 |
57 | D>V | No |
ClinGen Ensembl |
|
|
rs1454244431 CA389774402 |
58 | W>S | No |
ClinGen TOPMed |
|
|
CA7190821 rs200801591 |
61 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs773562106 CA7190819 |
63 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770332665 CA7190818 |
63 | L>P | No |
ClinGen ExAC |
|
|
rs773562106 CA7190820 |
63 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 65 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389774304 rs374774930 |
67 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374774930 CA7190816 |
67 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758136365 CA7190815 |
69 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1415014823 CA389774266 |
70 | T>I | No |
ClinGen gnomAD |
|
|
rs963902071 CA260961072 |
70 | T>S | No |
ClinGen Ensembl |
|
|
rs1402183803 CA389774227 |
74 | K>R | No |
ClinGen gnomAD |
|
|
CA389774210 rs1203072557 |
76 | H>N | No |
ClinGen gnomAD |
|
|
rs1308913153 CA389774162 |
78 | T>N | No |
ClinGen TOPMed |
|
|
CA389774155 rs1594993318 |
79 | L>V | No |
ClinGen Ensembl |
|
|
rs201335731 CA7190812 |
83 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1291099159 CA389774091 |
83 | G>S | No |
ClinGen gnomAD |
|
|
CA7190811 rs753860207 |
84 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs764003998 CA7190810 |
88 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7190809 rs755967896 |
90 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1462759669 CA389773978 |
91 | Q>H | No |
ClinGen TOPMed |
|
|
CA389773960 rs1240514630 |
93 | T>I | No |
ClinGen gnomAD |
|
|
CA389773965 rs1594993240 |
93 | T>P | No |
ClinGen Ensembl |
|
|
rs1237055075 CA389773934 |
95 | Q>H | No |
ClinGen TOPMed |
|
|
rs1566750391 CA389773937 |
95 | Q>R | No |
ClinGen Ensembl |
|
|
CA389773908 rs1317853986 |
97 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7190806 rs759776929 |
98 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389773875 rs556578889 |
99 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs556578889 CA7190804 |
99 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7190803 rs762923506 |
100 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7190801 rs141887548 |
100 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1515774 CA7190800 rs141887548 |
100 | R>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs141887548 CA7190802 |
100 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7190798 rs769097634 |
105 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs148043444 CA7190796 |
106 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7190797 rs190978610 |
106 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1594993088 CA389773702 |
114 | N>S | No |
ClinGen Ensembl |
|
|
rs374665608 CA260961043 |
117 | D>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA260961044 rs374665608 |
117 | D>Y | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs185277456 CA7190793 |
122 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746389311 CA7190791 |
123 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs372142613 CA7190790 |
124 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7190789 rs368273016 |
127 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 130 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1594993005 CA389773515 |
130 | F>Y | No |
ClinGen Ensembl |
|
|
CA389768794 rs1238838688 |
131 | N>I | No |
ClinGen TOPMed |
|
|
rs1462517048 CA389768774 |
132 | I>T | No |
ClinGen gnomAD |
|
|
CA260958049 rs1054455053 |
132 | I>V | No |
ClinGen Ensembl |
|
| TCGA novel | 133 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7190766 rs199890407 CA260958048 |
134 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1441426139 CA389768622 |
138 | L>I | No |
ClinGen TOPMed |
|
|
CA7190764 rs764502626 |
140 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1417863746 CA389768556 |
141 | L>S | No |
ClinGen gnomAD |
|
|
CA389768518 rs1228402869 |
142 | K>N | No |
ClinGen Ensembl |
|
|
rs761175410 CA7190763 |
145 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389768463 rs1415100170 |
145 | R>T | No |
ClinGen TOPMed |
|
|
CA7190762 rs143540107 |
146 | D>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1279215241 CA389768416 |
147 | P>Q | No |
ClinGen gnomAD |
|
|
CA389768420 rs1279215241 |
147 | P>R | No |
ClinGen gnomAD |
|
|
CA7190761 rs767876067 |
148 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA7190760 rs529594228 |
149 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1237984686 CA389768376 |
150 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| rs766229731 | 152 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769347232 CA7190758 |
152 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 153 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370579036 COSM3700872 CA7190756 |
154 | K>Q | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA7190752 rs746912955 |
156 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA389768270 rs1349410902 |
160 | E>V | No |
ClinGen TOPMed |
|
|
CA7190749 rs376134795 |
161 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1158370698 CA389768237 |
163 | A>T | No |
ClinGen gnomAD |
|
|
CA389768227 rs1452021159 |
163 | A>V | No |
ClinGen gnomAD |
|
|
rs1026867763 CA260958046 |
168 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7190747 rs757477990 |
169 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA389768110 rs757477990 |
169 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA7190746 rs375328892 |
170 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563973465 CA7190744 |
171 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7190745 rs563973465 |
171 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389767976 rs1317109996 |
175 | S>L | No |
ClinGen gnomAD |
|
|
CA7190742 rs767812914 |
175 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA260955756 rs934885893 |
177 | S>G | No |
ClinGen Ensembl |
|
|
CA7190723 rs753192834 |
178 | I>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756189362 CA7190724 |
178 | I>V | No |
ClinGen ExAC |
|
|
rs1433923761 CA389766339 |
185 | Y>C | No |
ClinGen gnomAD |
|
|
rs755405789 CA7190721 |
189 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389766284 rs1195497244 |
190 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs766674832 CA7190719 |
193 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 195 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555367788 CA7190716 |
195 | A>V | No |
ClinGen Ensembl |
|
|
rs763558186 CA7190714 |
196 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753495617 CA7190715 |
196 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7190713 rs760214812 |
199 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA7190712 rs775356132 |
200 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA260955735 rs987671172 COSM956266 |
200 | P>S | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs759487057 CA7190710 |
202 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1279887634 CA389766179 |
207 | W>R | No |
ClinGen TOPMed |
|
| TCGA novel | 210 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389766132 rs1336994898 |
213 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA389766110 rs1425783396 |
216 | G>A | No |
ClinGen gnomAD |
|
|
CA260955727 rs953606855 |
217 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA389766093 rs1373173936 |
219 | G>S | No |
ClinGen gnomAD |
|
|
CA389766086 rs1248816437 |
220 | I>T | No |
ClinGen TOPMed |
|
|
CA7190708 rs531559889 |
220 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs150320917 CA7190707 |
223 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7190706 rs778034299 |
227 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1156720837 CA389766037 |
228 | T>A | No |
ClinGen gnomAD |
|
|
rs369069013 CA7190705 |
228 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1187223577 CA389766013 |
232 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1594943932 CA389765979 |
236 | M>I | No |
ClinGen Ensembl |
|
|
CA7190703 rs781070641 |
236 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1211298203 CA389765962 |
238 | K>N | No |
ClinGen gnomAD |
|
|
CA7190702 rs146421425 |
238 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780433822 CA7190701 |
239 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7190700 rs780433822 |
239 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs758738245 CA7190699 |
241 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA389765948 rs1299698237 |
241 | A>P | No |
ClinGen TOPMed |
|
|
rs1288434746 CA389765943 |
242 | L>V | No |
ClinGen gnomAD |
|
|
rs753487116 CA7190698 |
244 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763794709 CA7190697 |
248 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA7190696 rs760177159 |
249 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA7190695 rs752263194 |
249 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA7190694 rs767086094 |
251 | G>E | No |
ClinGen ExAC |
|
|
CA389765836 rs1566726827 |
255 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 255 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA260955673 rs577877091 |
257 | R>G | No |
ClinGen gnomAD |
|
|
CA260955670 rs947321439 |
257 | R>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1594943759 CA389765816 |
259 | L>F | No |
ClinGen Ensembl |
|
|
rs372022831 CA7190683 |
263 | D>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA389765780 rs1423807391 |
264 | V>M | No |
ClinGen TOPMed |
|
|
CA7190681 rs145386627 |
267 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1417566404 CA389765741 |
269 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs561520126 CA7190680 |
270 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA389765719 rs1252976692 |
273 | R>* | No |
ClinGen gnomAD |
|
|
CA260955655 rs202005052 |
273 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 274 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389765705 rs1466801976 |
275 | K>R | No |
ClinGen gnomAD |
|
|
rs779088706 CA7190679 |
276 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA389765632 rs1326270014 |
281 | D>Y | No |
ClinGen TOPMed |
|
|
rs755810684 CA7190678 |
282 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA389765442 rs1311463570 |
286 | Y>C | No |
ClinGen gnomAD |
|
|
rs140178596 CA7190654 |
289 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA389765405 rs1378757576 |
291 | I>M | No |
ClinGen gnomAD |
|
|
CA7190653 rs754602580 |
292 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7190651 rs765933496 |
298 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA7190650 rs371241593 |
298 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 301 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389765338 rs1483188728 |
301 | A>T | No |
ClinGen gnomAD |
|
|
CA389765334 rs1463940514 |
301 | A>V | No |
ClinGen gnomAD |
|
|
CA389765331 rs1208504631 |
302 | I>V | No |
ClinGen gnomAD |
|
|
rs765126347 CA389765324 |
303 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7190648 rs765126347 |
303 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA389765301 rs1238235367 |
306 | E>D | No |
ClinGen gnomAD |
|
|
rs1314984545 CA389765299 |
307 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
rs367678207 CA389765296 |
307 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367678207 CA7190646 |
307 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1314984545 CA389765298 |
307 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs760827608 CA7190644 |
308 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760827608 CA389765293 |
308 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7190643 rs775569582 |
308 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs772003436 CA7190642 |
309 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7190641 rs746426332 |
310 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA389765271 rs1452269867 |
311 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1452269867 CA389765270 |
311 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1377084512 CA389765251 |
314 | M>V | No |
ClinGen TOPMed |
|
|
rs1472610828 CA389765205 |
319 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1271357219 CA389765129 COSM1300668 |
323 | H>D | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA7190614 rs779555824 |
323 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs1271357219 CA389765128 |
323 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 324 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778426570 CA7190611 |
329 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389765042 rs778426570 |
329 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260953745 rs915413405 |
330 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA389764958 rs1371003924 |
333 | E>D | No |
ClinGen TOPMed |
|
|
rs1566723438 CA389764963 |
333 | E>G | No |
ClinGen Ensembl |
|
|
CA389764952 rs1369349643 |
334 | N>H | No |
ClinGen gnomAD |
|
|
rs753733199 CA7190609 |
335 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA7190608 rs777584635 |
338 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA260953729 rs142932804 |
340 | D>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7190606 rs753021602 |
346 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 348 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA260953717 rs761036542 |
355 | I>M | No |
ClinGen gnomAD |
|
|
rs903389343 CA260953711 |
359 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
CA389764457 rs903389343 |
359 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7190603 rs766436614 |
360 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7190602 rs766436614 |
360 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775328997 CA7190601 |
362 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs773829108 CA7190600 |
363 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7190599 rs770334735 |
365 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278461075 CA389764206 |
367 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA7190580 rs751033775 |
367 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA389764209 rs1278461075 |
367 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1275732955 CA389764165 |
370 | T>A | No |
ClinGen TOPMed |
|
|
rs1413993248 CA389764091 |
376 | A>V | No |
ClinGen gnomAD |
|
|
CA389764079 rs762349839 |
377 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389764054 rs776878631 |
379 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA260953320 rs1014544620 |
379 | I>N | No |
ClinGen Ensembl |
|
|
CA7190577 rs776878631 |
379 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs764477726 CA7190576 |
380 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7190575 rs759150186 |
382 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs774033489 CA7190574 |
383 | K>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 387 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1164214484 CA389763849 |
389 | L>R | No |
ClinGen gnomAD |
|
|
rs1348308774 CA389763845 |
390 | K>E | No |
ClinGen TOPMed |
|
|
rs766025781 CA7190554 |
392 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7190553 rs762536761 |
393 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389763814 rs1268308039 |
394 | Q>R | No |
ClinGen Ensembl |
|
|
CA389763809 rs1182840056 |
395 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA389763810 rs1182840056 |
395 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA389763742 rs1252678668 |
404 | I>V | No |
ClinGen TOPMed |
|
|
CA389763697 rs1436358013 |
410 | K>E | No |
ClinGen TOPMed |
|
|
CA389763690 rs1324268556 |
411 | E>K | No |
ClinGen gnomAD |
|
|
CA260952765 rs112147603 |
412 | E>G | No |
ClinGen Ensembl |
|
|
rs1178246288 CA389763682 |
412 | E>K | No |
ClinGen TOPMed |
|
|
CA389763674 rs1455834465 |
413 | S>P | No |
ClinGen TOPMed |
|
|
rs113573591 CA260952756 |
414 | S>G | No |
ClinGen Ensembl |
|
|
rs1566721761 CA389763667 |
414 | S>N | No |
ClinGen Ensembl |
|
|
rs369594200 CA7190550 |
416 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1048471325 CA260952748 |
416 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs558978344 CA389763648 |
417 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7190549 rs558978344 |
417 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7190548 rs539153989 |
419 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768397781 CA7190547 |
424 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260952729 rs768397781 |
424 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260949461 rs931171599 |
428 | V>I | No |
ClinGen TOPMed |
|
|
CA389763086 rs1441761617 |
429 | T>I | No |
ClinGen gnomAD |
|
|
rs776503270 CA7190530 |
430 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA7190529 rs768648776 |
432 | V>A | No |
ClinGen ExAC gnomAD |
|
|
COSM3718476 CA260949458 rs140754724 |
432 | V>I | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
| TCGA novel | 435 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA389763025 rs1174555476 |
435 | S>A | No |
ClinGen gnomAD |
|
|
rs760477161 CA7190528 |
435 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA389762970 rs1191210470 |
439 | F>Y | No |
ClinGen gnomAD |
|
|
rs775454746 CA7190527 |
440 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA389762933 rs1207085435 |
441 | I>M | No |
ClinGen gnomAD |
|
|
rs1249110474 CA389762944 |
441 | I>V | No |
ClinGen gnomAD |
|
|
COSM1637534 rs1299185235 CA389762920 |
442 | K>N | bone [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs771959432 CA7190526 |
444 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs200977792 CA7190525 |
446 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs529341876 CA7190524 |
448 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1451316956 CA389762814 |
451 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7190523 rs373645769 |
454 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7190522 rs749389888 COSM1176928 |
457 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs777658527 CA7190521 |
457 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749389888 CA260949421 |
457 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160651506 CA389762623 |
461 | E>G | No |
ClinGen gnomAD |
|
|
CA7190503 rs773374416 |
461 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1566716685 CA389762584 |
463 | Q>R | No |
ClinGen Ensembl |
|
|
CA260949199 rs981827598 |
469 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1425305834 CA389762481 |
470 | A>T | No |
ClinGen gnomAD |
|
|
CA7190501 rs748705901 |
470 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA389762456 rs1463434156 |
472 | R>G | No |
ClinGen gnomAD |
|
|
CA389762437 rs1249989914 |
473 | L>S | No |
ClinGen gnomAD |
|
|
rs1209384713 CA389762430 |
474 | A>T | No |
ClinGen gnomAD |
|
|
CA389762415 rs1263870068 |
475 | S>C | No |
ClinGen gnomAD |
|
|
rs1247509468 CA389762408 |
476 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA389762404 rs1322684515 |
477 | G>S | No |
ClinGen gnomAD |
|
|
CA260949143 rs754358628 |
480 | M>V | No |
ClinGen Ensembl |
|
|
CA7190495 rs753398844 |
486 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372507518 CA260949116 |
488 | E>G | No |
ClinGen ESP |
|
|
rs1385634223 CA389762301 |
491 | N>S | No |
ClinGen gnomAD |
|
|
CA7190492 rs752746667 COSM1370121 |
493 | L>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA389762290 rs752746667 |
493 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA389762280 rs1566716526 |
494 | S>F | No |
ClinGen Ensembl |
|
|
CA389762270 rs1447607689 |
496 | L>V | No |
ClinGen gnomAD |
|
|
CA7190491 rs767566349 |
497 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA7190490 rs759488950 |
500 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs369784505 CA7190489 |
506 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA389762159 rs1265607718 |
510 | E>Q | No |
ClinGen gnomAD |
|
|
rs983831218 CA260949099 |
512 | I>M | No |
ClinGen Ensembl |
|
|
rs79804050 CA7190488 |
513 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA260949091 rs1025608690 |
516 | I>R | No |
ClinGen TOPMed |
|
|
CA389762075 rs1025608690 |
516 | I>T | No |
ClinGen TOPMed |
|
|
rs535966031 CA7190485 |
516 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7190482 rs748225738 |
520 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776630065 CA7190481 |
521 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA389762014 rs567338870 |
522 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7190480 rs567338870 |
522 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389761991 rs1429904000 |
523 | S>C | No |
ClinGen Ensembl |
|
|
CA389761986 rs1320935684 |
524 | P>A | No |
ClinGen gnomAD |
|
|
CA7190479 rs747430958 |
525 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7190478 COSM1206992 rs756401065 |
525 | R>H | pancreas large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA389761970 rs1427546535 |
526 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1427546535 CA389761971 |
526 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs758666219 CA7190477 |
529 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260949040 rs917250009 |
530 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 530 | Y>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749026267 CA7190476 |
532 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1477779530 CA389761862 |
534 | Q>H | No |
ClinGen gnomAD |
|
|
CA7190438 rs764214654 |
535 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7190437 rs760665291 |
536 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs538894781 CA7190436 |
537 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7190434 rs760039004 |
539 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA389761524 rs1323127009 |
543 | H>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1323127009 CA389761522 |
543 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1220433793 CA389761480 |
549 | M>L | No |
ClinGen TOPMed |
|
|
CA7190429 rs780980333 |
550 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389761462 rs1566713855 |
551 | L>R | No |
ClinGen Ensembl |
|
|
rs768281043 CA7190425 |
552 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389761454 rs1445228404 |
552 | I>M | No |
ClinGen TOPMed |
|
|
rs768281043 CA389761458 |
552 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389761445 rs1164925625 |
554 | A>T | No |
ClinGen TOPMed |
|
|
CA7190423 rs746509189 |
556 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA389761426 rs1186173801 |
556 | M>R | No |
ClinGen gnomAD |
|
| TCGA novel | 557 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA260956795 rs978830830 |
560 | Q>E | No |
ClinGen Ensembl |
|
|
rs1220375189 CA389761389 |
561 | A>V | No |
ClinGen gnomAD |
|
|
rs1340899507 CA389761380 |
562 | W>C | No |
ClinGen Ensembl |
|
|
CA389761358 rs1246382189 |
566 | P>S | No |
ClinGen gnomAD |
|
|
rs1404819756 CA389761318 |
572 | H>D | No |
ClinGen TOPMed |
|
|
CA260956790 rs74957625 |
572 | H>Q | No |
ClinGen Ensembl |
|
|
rs1341413530 CA389761305 |
573 | F>L | No |
ClinGen gnomAD |
|
|
CA7190419 rs138631913 |
574 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA260956591 rs773491542 |
576 | R>S | No |
ClinGen gnomAD |
|
|
CA7190392 rs756402897 |
577 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1158405083 CA389761260 |
578 | Q>H | No |
ClinGen TOPMed |
|
|
rs753136089 CA7190390 |
580 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA389761225 rs1594920461 |
583 | E>D | No |
ClinGen Ensembl |
|
|
rs1480936839 CA389761224 |
584 | E>Q | No |
ClinGen gnomAD |
|
|
CA7190389 rs767862305 |
584 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA7190387 rs144927888 |
586 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA389761175 rs1264063421 |
591 | N>T | No |
ClinGen gnomAD |
|
|
rs377196292 CA260956582 |
595 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377196292 CA7190385 |
595 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751620780 CA7190386 COSM1176745 |
595 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs907310260 CA260956580 |
598 | A>S | No |
ClinGen gnomAD |
|
|
CA389761131 rs907310260 |
598 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 599 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763180941 CA7190384 |
600 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA260956578 rs945906576 |
601 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs773542950 CA7190383 |
602 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs765531426 CA7190382 |
603 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA7190380 rs137900215 |
604 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA389761066 rs1456396994 |
608 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs745803960 CA7190378 |
608 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA389761060 rs1161072223 |
609 | F>S | No |
ClinGen gnomAD |
|
|
CA7190377 rs774332955 |
611 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs372955263 CA260956570 |
612 | M>I | No |
ClinGen ESP |
|
|
rs1594920304 CA389761039 |
612 | M>V | No |
ClinGen Ensembl |
|
|
rs1278776908 CA389761020 |
614 | Q>R | No |
ClinGen TOPMed |
|
|
rs1345444523 CA389760997 |
617 | V>I | No |
ClinGen TOPMed |
|
|
rs770886964 CA7190355 |
626 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200392394 CA7190353 |
630 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA389760863 rs1297017721 |
631 | E>K | No |
ClinGen gnomAD |
|
|
CA389760846 rs753838462 |
633 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753838462 CA7190351 |
633 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs962468300 CA260956361 |
640 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1018928615 CA260956360 |
642 | D>H | No |
ClinGen gnomAD |
|
|
CA260956358 rs776834850 |
644 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 645 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 656 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1336467403 COSM1206991 CA389760670 |
659 | R>C | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
| TCGA novel | 659 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7190348 rs747415162 |
661 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs143432898 CA7190347 |
661 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7190346 rs758991496 |
662 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202107643 CA389760654 |
662 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 662 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1413848758 CA389760629 COSM1677993 |
665 | E>G | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA7190344 rs779050016 |
665 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA389760614 rs1252581951 |
667 | L>S | No |
ClinGen gnomAD |
|
|
rs764289666 CA260956351 |
670 | E>G | No |
ClinGen gnomAD |
No associated diseases with Q96AC1
Functions
15 GO annotations of cellular component
| Name | Definition |
|---|---|
| adherens junction | A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules. |
| cell cortex | The region of a cell that lies just beneath the plasma membrane and often, but not always, contains a network of actin filaments and associated proteins. |
| cell junction | A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytoplasmic side of plasma membrane | The leaflet the plasma membrane that faces the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extrinsic component of cytoplasmic side of plasma membrane | The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region. |
| 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). |
| I band | A region of a sarcomere that appears as a light band on each side of the Z disc, comprising a region of the sarcomere where thin (actin) filaments are not overlapped by thick (myosin) filaments; contains actin, troponin, and tropomyosin; each sarcomere includes half of an I band at each end. |
| lamellipodium membrane | The portion of the plasma membrane surrounding a lamellipodium. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| stress fiber | A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| actin binding | Binding to monomeric or multimeric forms of actin, including actin filaments. |
| actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
| integrin binding | Binding to an integrin. |
| phosphatidylinositol-3,4,5-trisphosphate binding | Binding to phosphatidylinositol-3,4,5-trisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 3', 4' and 5' positions. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
| SMAD binding | Binding to a SMAD signaling protein. |
| type I transforming growth factor beta receptor binding | Binding to a type I transforming growth factor beta receptor. |
30 GO annotations of biological process
| Name | Definition |
|---|---|
| adherens junction maintenance | The maintenance of an adherens junction. An adherens junction is a cell-cell junction composed of the epithelial cadherin-catenin complex at which the cytoplasmic face of the plasma membrane is attached to actin filaments. |
| 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. |
| cell-matrix adhesion | The binding of a cell to the extracellular matrix via adhesion molecules. |
| focal adhesion assembly | The aggregation and bonding together of a set of components to form a focal adhesion, a complex of intracellular signaling and structural proteins that provides a structural link between the internal actin cytoskeleton and the ECM, and also function as a locus of signal transduction activity. |
| integrin activation | The aggregation, arrangement and bonding together of an integrin, a heterodimeric adhesion receptor formed by the non-covalent association of particular alpha and beta subunits, that lead to the increased affinity of the integrin for its extracellular ligands. |
| integrin-mediated signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| limb development | The process whose specific outcome is the progression of a limb over time, from its formation to the mature structure. A limb is an appendage of an animal used for locomotion or grasping. Examples include legs, arms or some types of fin. |
| negative regulation of fat cell differentiation | Any process that stops, prevents, or reduces the frequency, rate or extent of adipocyte differentiation. |
| negative regulation of vascular permeability | Any process that reduces the extent to which blood vessels can be pervaded by fluid. |
| positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
| positive regulation of epithelial to mesenchymal transition | Any process that increases the rate, frequency, or extent of epithelial to mesenchymal transition. Epithelial to mesenchymal transition is where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. |
| positive regulation of ERK1 and ERK2 cascade | Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| positive regulation of focal adhesion assembly | Any process that activates or increases the frequency, rate or extent of focal adhesion assembly, the establishment and maturation of focal adhesions. |
| positive regulation of GTPase activity | Any process that activates or increases the activity of a GTPase. |
| positive regulation of integrin activation | Any process that activates or increases the frequency, rate, or extent of integrin activation. |
| positive regulation of mesenchymal stem cell proliferation | Any process that activates or increases the frequency, rate or extent of mesenchymal stem cell proliferation. |
| positive regulation of myosin light chain kinase activity | Any process that activates or increases the frequency, rate or extent of myosin light chain kinase activity. |
| positive regulation of osteoblast differentiation | Any process that activates or increases the frequency, rate or extent of osteoblast differentiation. |
| positive regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction | Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B. |
| positive regulation of protein localization to nucleus | Any process that activates or increases the frequency, rate or extent of protein localization to nucleus. |
| positive regulation of stress fiber assembly | Any process that activates or increases the frequency, rate or extent of the assembly of a stress fiber, a bundle of microfilaments and other proteins found in fibroblasts. |
| positive regulation of substrate adhesion-dependent cell spreading | Any process that activates or increases the frequency, rate or extent of substrate adhesion-dependent cell spreading. |
| positive regulation of wound healing, spreading of epidermal cells | Any process that activates or increases the frequency, rate or extent of wound healing, spreading of epidermal cells. |
| protein localization to cell junction | A process in which a protein is transported to, or maintained in, a location within a cell junction. |
| protein localization to membrane | A process in which a protein is transported to, or maintained in, a specific location in a membrane. |
| regulation of cell morphogenesis | Any process that modulates the frequency, rate or extent of cell morphogenesis. Cell morphogenesis is the developmental process in which the shape of a cell is generated and organized. |
| regulation of cell shape | Any process that modulates the surface configuration of a cell. |
| substrate adhesion-dependent cell spreading | The morphogenetic process that results in flattening of a cell as a consequence of its adhesion to a substrate. |
| transforming growth factor beta receptor signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to a transforming growth factor beta receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| Wnt signaling pathway | The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell and ending with a change in cell state. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q32LP0 | FERMT3 | Fermitin family homolog 3 | Bos taurus (Bovine) | SS |
| Q9VZI3 | Fit1 | Unc-112-related protein | Drosophila melanogaster (Fruit fly) | SS |
| Q86UX7 | FERMT3 | Fermitin family homolog 3 | Homo sapiens (Human) | EV |
| Q9BQL6 | FERMT1 | Fermitin family homolog 1 | Homo sapiens (Human) | SS |
| Q9Y4G6 | TLN2 | Talin-2 | Homo sapiens (Human) | SS |
| Q9Y490 | TLN1 | Talin-1 | Homo sapiens (Human) | EV |
| P59113 | Fermt1 | Fermitin family homolog 1 | Mus musculus (Mouse) | SS |
| Q8K1B8 | Fermt3 | Fermitin family homolog 3 | Mus musculus (Mouse) | SS |
| Q8CIB5 | Fermt2 | Fermitin family homolog 2 | Mus musculus (Mouse) | SS |
| P26039 | Tln1 | Talin-1 | Mus musculus (Mouse) | EV |
| Q18685 | unc-112 | Protein unc-112 | Caenorhabditis elegans | SS |
| F1Q8X5 | fermt2 | Fermitin family homolog 2 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALDGIRMPD | GCYADGTWEL | SVHVTDLNRD | VTLRVTGEVH | IGGVMLKLVE | KLDVKKDWSD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| HALWWEKKRT | WLLKTHWTLD | KYGIQADAKL | QFTPQHKLLR | LQLPNMKYVK | VKVNFSDRVF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KAVSDICKTF | NIRHPEELSL | LKKPRDPTKK | KKKKLDDQSE | DEALELEGPL | ITPGSGSIYS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SPGLYSKTMT | PTYDAHDGSP | LSPTSAWFGD | SALSEGNPGI | LAVSQPITSP | EILAKMFKPQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| ALLDKAKINQ | GWLDSSRSLM | EQDVKENEAL | LLRFKYYSFF | DLNPKYDAIR | INQLYEQAKW |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AILLEEIECT | EEEMMMFAAL | QYHINKLSIM | TSENHLNNSD | KEVDEVDAAL | SDLEITLEGG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KTSTILGDIT | SIPELADYIK | VFKPKKLTLK | GYKQYWCTFK | DTSISCYKSK | EESSGTPAHQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MNLRGCEVTP | DVNISGQKFN | IKLLIPVAEG | MNEIWLRCDN | EKQYAHWMAA | CRLASKGKTM |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ADSSYNLEVQ | NILSFLKMQH | LNPDPQLIPE | QITTDITPEC | LVSPRYLKKY | KNKQITARIL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| EAHQNVAQMS | LIEAKMRFIQ | AWQSLPEFGI | THFIARFQGG | KKEELIGIAY | NRLIRMDAST |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GDAIKTWRFS | NMKQWNVNWE | IKMVTVEFAD | EVRLSFICTE | VDCKVVHEFI | GGYIFLSTRA |
| 670 | |||||
| KDQNESLDEE | MFYKLTSGWV |