Q9UQB8
Gene name |
BAIAP2 |
Protein name |
Brain-specific angiogenesis inhibitor 1-associated protein 2 |
Names |
BAI-associated protein 2, BAI1-associated protein 2, Protein BAP2, Fas ligand-associated factor 3, FLAF3, Insulin receptor substrate p53/p58, IRS-58, IRSp53/58, Insulin receptor substrate protein of 53 kDa, IRSp53, Insulin receptor substrate p53 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:10458 |
EC number |
|
Protein Class |
BRAIN-SPECIFIC ANGIOGENESIS INHIBITOR 1-ASSOCIATED PROTEIN 2 (PTHR14206) |

Descriptions
BAIAP2 (IRSp53) is a SH3-containing protein that links membrane-bound small G-proteins to cytoplasmic effector proteins. The N-terminal autoinhibitory region interacts intramolecularly with the central region containing CRIB motif and Cdc42 binding domain. When GTP-loaded Cdc42 binds to the CRIB motif, it abrogates the autoinhibitory, intramolecular interaction and allows the SH3 domain to interact with BAIAP2 effector proteins such as Mena. When the N-terminal autoinhibitory fragment is co-expressed with BAIAP2, the fragment inhibits the function of BAIAP2.
Autoinhibitory domains (AIDs)
Target domain |
180-317 (Central region) |
Relief mechanism |
Partner binding |
Assay |
Deletion assay, Mutagenesis experiment, Structural analysis |
Accessory elements
No accessory elements
References
- Krugmann S et al. (2001) "Cdc42 induces filopodia by promoting the formation of an IRSp53:Mena complex", Current biology : CB, 11, 1645-55
- Miki H et al. (2002) "WAVE2 serves a functional partner of IRSp53 by regulating its interaction with Rac", Biochemical and biophysical research communications, 293, 93-9
- Kast DJ et al. (2014) "Mechanism of IRSp53 inhibition and combinatorial activation by Cdc42 and downstream effectors", Nature structural & molecular biology, 21, 413-22
Autoinhibited structure

Activated structure
13 structures for Q9UQB8
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
1WDZ | X-ray | 263 A | A/B | 1-228 | PDB |
1Y2O | X-ray | 220 A | A/B | 1-250 | PDB |
2YKT | X-ray | 211 A | A | 1-250 | PDB |
3RNJ | X-ray | 150 A | A | 375-436 | PDB |
4JS0 | X-ray | 190 A | B | 260-291 | PDB |
6BCR | X-ray | 199 A | C/D/G/H | 333-346 | PDB |
6BCY | X-ray | 230 A | C/D/G/H | 354-366 | PDB |
6BD1 | X-ray | 235 A | C/D/G/H | 360-373 | PDB |
6BD2 | X-ray | 290 A | C | 335-372 | PDB |
6BQT | X-ray | 280 A | C/F/I/L | 335-366 | PDB |
6ZEG | X-ray | 109 A | A/B | 448-464 | PDB |
6ZEI | X-ray | 139 A | A/B | 448-464 | PDB |
AF-Q9UQB8-F1 | Predicted | AlphaFoldDB |
404 variants for Q9UQB8
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA401412633 rs1171086981 |
2 | S>F | No |
ClinGen gnomAD |
|
CA294983703 rs11539639 |
4 | S>P | No |
ClinGen Ensembl |
|
CA8826425 rs753024709 |
5 | R>P | No |
ClinGen ExAC gnomAD |
|
CA8826426 rs115451635 |
6 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1475121022 CA401412668 |
8 | E>D | No |
ClinGen TOPMed |
|
CA8826429 rs370763028 |
9 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs370763028 CA8826428 |
9 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA294983709 rs974729629 |
10 | H>P | No |
ClinGen TOPMed |
|
rs1230578623 CA401412683 |
10 | H>Q | No |
ClinGen gnomAD |
|
CA8826431 rs578230889 |
11 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1407224910 CA401412699 |
13 | T>M | No |
ClinGen TOPMed gnomAD |
|
rs564046878 CA8826434 |
15 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs776230594 CA8826436 |
17 | Y>C | No |
ClinGen ExAC gnomAD |
|
rs900913360 CA294999364 |
20 | I>V | No |
ClinGen Ensembl |
|
CA8826484 rs374230803 |
24 | F>Y | No |
ClinGen ESP ExAC gnomAD |
|
rs1598542596 CA401417000 |
25 | N>T | No |
ClinGen Ensembl |
|
rs1404726554 CA401417067 |
29 | R>Q | No |
ClinGen gnomAD |
|
rs377401222 CA294999380 |
29 | R>W | No |
ClinGen ESP TOPMed |
|
rs1028076093 CA294999381 |
33 | A>T | No |
ClinGen TOPMed gnomAD |
|
rs770013190 CA8826487 |
33 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA401417152 rs1459613705 |
34 | M>T | No |
ClinGen gnomAD |
|
CA8826489 rs762949363 |
39 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA401417242 rs762949363 |
39 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762949363 CA401417245 |
39 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8826521 rs749901447 |
46 | T>K | No |
ClinGen ExAC gnomAD |
|
rs749901447 CA8826522 |
46 | T>M | No |
ClinGen ExAC gnomAD |
|
rs1319275232 CA401418379 |
50 | K>Q | No |
ClinGen gnomAD |
|
rs1460415838 CA401418390 |
51 | G>D | No |
ClinGen TOPMed |
|
COSM1750397 rs1436822616 CA401418397 COSM1750399 COSM1750398 |
52 | Y>C | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA8826527 rs749548807 |
54 | D>A | No |
ClinGen ExAC gnomAD |
|
CA401418418 rs1217192954 |
55 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA295003420 rs970877727 |
57 | V>A | No |
ClinGen TOPMed gnomAD |
|
rs745919667 CA8826530 |
57 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs981270696 CA401418445 |
59 | M>I | No |
ClinGen TOPMed |
|
rs981270696 CA295003421 |
59 | M>I | No |
ClinGen TOPMed |
|
rs1598565901 CA401418458 |
61 | E>G | No |
ClinGen Ensembl |
|
CA401418453 rs1463652930 |
61 | E>K | No |
ClinGen gnomAD |
|
rs1268866258 CA401418464 |
62 | L>R | No |
ClinGen gnomAD |
|
CA8826531 rs771907623 |
62 | L>V | No |
ClinGen ExAC gnomAD |
|
rs775556041 CA401418469 |
63 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775556041 CA8826532 |
63 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1427755770 CA401418478 |
65 | E>K | No |
ClinGen gnomAD |
|
CA401418500 rs1159158244 |
67 | Q>H | No |
ClinGen gnomAD |
|
rs1598566033 CA401418510 |
69 | S>P | No |
ClinGen Ensembl |
|
CA8826537 rs764946894 |
70 | K>Q | No |
ClinGen ExAC gnomAD |
|
rs984006379 CA295003477 |
70 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs1433873364 CA401418521 |
71 | E>K | No |
ClinGen gnomAD |
|
CA401418533 rs1227709698 |
72 | L>P | No |
ClinGen gnomAD |
|
CA401418534 rs1227709698 |
72 | L>R | No |
ClinGen gnomAD |
|
CA401418531 rs1345960849 |
72 | L>V | No |
ClinGen gnomAD |
|
rs1331156207 CA401418535 |
73 | G>R | No |
ClinGen gnomAD |
|
CA401423922 rs1186024143 |
74 | D>V | No |
ClinGen gnomAD |
|
rs1333493352 CA401423931 |
75 | V>I | No |
ClinGen gnomAD |
|
rs546067385 CA8826625 |
79 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8826626 rs769593965 |
81 | E>K | No |
ClinGen ExAC gnomAD |
|
CA401424095 rs1473164792 |
87 | Q>E | No |
ClinGen gnomAD |
|
CA401424103 rs1417487832 |
87 | Q>R | No |
ClinGen TOPMed |
|
CA295029835 rs958763714 |
88 | N>Y | No |
ClinGen TOPMed |
|
rs777643110 CA8826627 |
93 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1324688047 CA401424252 |
94 | L>M | No |
ClinGen gnomAD |
|
rs948958629 CA295030779 |
95 | K>R | No |
ClinGen TOPMed |
|
CA8826716 rs755745937 |
96 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1402797058 CA401424298 |
100 | E>V | No |
ClinGen gnomAD |
|
rs899161358 CA295030786 |
101 | L>M | No |
ClinGen TOPMed |
|
CA8826718 rs371193130 |
103 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8826722 rs373474550 |
110 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs762016795 CA8826724 |
114 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA401424445 rs1182175064 |
117 | S>G | No |
ClinGen gnomAD |
|
CA8826725 rs769899566 |
117 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs146668397 CA8826753 |
119 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1320899885 CA401424600 |
121 | K>R | No |
ClinGen TOPMed |
|
rs1459638650 CA401424651 |
124 | Q>H | No |
ClinGen gnomAD |
|
CA8826756 rs752146377 |
125 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1436993263 CA401424660 |
125 | T>I | No |
ClinGen TOPMed |
|
rs1436993263 CA401424659 |
125 | T>S | No |
ClinGen TOPMed |
|
rs1243301746 CA401424672 |
126 | E>D | No |
ClinGen gnomAD |
|
CA401424680 rs1448534524 |
127 | Q>* | No |
ClinGen gnomAD |
|
CA401424709 rs1190728401 |
129 | S>N | No |
ClinGen gnomAD |
|
rs561571272 CA8826757 |
130 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8826759 rs748476838 COSM3937650 COSM3937649 COSM3937651 |
132 | D>N | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs777916497 CA8826761 |
133 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA401424783 rs1261293190 |
135 | D>V | No |
ClinGen TOPMed |
|
rs1339516863 CA401424808 |
137 | C>Y | No |
ClinGen gnomAD |
|
rs749461725 CA8826762 |
138 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA8826765 rs745868193 |
145 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA401424922 rs1283140959 |
146 | K>R | No |
ClinGen gnomAD |
|
rs767999334 CA295031716 |
148 | S>N | No |
ClinGen Ensembl |
|
CA295031720 rs367841125 |
149 | Q>E | No |
ClinGen ESP TOPMed |
|
rs991970933 CA295031725 |
151 | S>N | No |
ClinGen TOPMed |
|
rs1322042328 CA401425004 |
152 | K>R | No |
ClinGen gnomAD |
|
rs200297110 CA295031732 |
153 | N>T | No |
ClinGen Ensembl |
|
rs1485321863 CA401425092 |
158 | S>W | No |
ClinGen gnomAD |
|
CA401425143 rs1447305591 |
160 | K>R | No |
ClinGen gnomAD |
|
CA401425176 rs1297851873 |
161 | E>D | No |
ClinGen TOPMed |
|
rs761337520 CA8826771 |
162 | L>R | No |
ClinGen ExAC gnomAD |
|
rs1234391673 CA401419860 |
165 | I>V | No |
ClinGen TOPMed |
|
rs761195252 CA8826812 |
166 | D>N | No |
ClinGen ExAC |
|
rs374731577 CA8826813 |
167 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1256907331 CA401419880 |
168 | I>V | No |
ClinGen TOPMed |
|
rs765629866 CA8826816 |
171 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs368976984 CA8826817 |
173 | G>V | No |
ClinGen ESP ExAC TOPMed |
|
rs149055618 CA8826820 |
175 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA401419966 rs563318276 |
178 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA8826826 rs748990232 |
179 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs372635764 CA401419969 |
179 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8826824 rs372635764 |
179 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8826825 rs372635764 |
179 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1343074500 CA401419989 |
180 | S>F | No |
ClinGen gnomAD |
|
rs1161177363 CA401419997 |
181 | D>N | No |
ClinGen TOPMed |
|
CA8826830 rs771597263 |
182 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8826834 rs773659690 |
187 | L>V | No |
ClinGen ExAC gnomAD |
|
COSM985776 rs1283746976 CA401420953 |
191 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
rs766637531 CA401420957 |
191 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766637531 CA8826836 |
191 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1490321848 CA401421050 |
195 | C>Y | No |
ClinGen gnomAD |
|
rs767634545 CA8826839 |
202 | C>F | No |
ClinGen ExAC gnomAD |
|
CA294989899 rs767634545 |
202 | C>Y | No |
ClinGen ExAC gnomAD |
|
rs756060126 CA8826841 COSM1726737 COSM1726735 COSM1726736 |
203 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA401421254 rs1402134415 |
204 | V>M | No |
ClinGen gnomAD |
|
CA401421289 rs1403009948 |
206 | K>N | No |
ClinGen gnomAD |
|
rs528044923 CA8826844 |
206 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs745515587 CA8826846 |
209 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8826847 rs771522958 |
209 | A>V | No |
ClinGen ExAC gnomAD |
|
rs748624549 CA8826849 |
210 | A>G | No |
ClinGen ExAC gnomAD |
|
rs770293073 CA8826850 |
211 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA401421385 rs1460775535 |
213 | S>C | No |
ClinGen TOPMed |
|
rs1316005015 CA401422909 |
215 | G>V | No |
ClinGen gnomAD |
|
CA294993451 rs992770877 |
218 | L>V | No |
ClinGen TOPMed |
|
CA294993460 rs767042934 |
220 | A>T | No |
ClinGen Ensembl |
|
rs745320058 CA8826882 |
220 | A>V | No |
ClinGen ExAC gnomAD |
|
CA8826884 rs779694736 |
222 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8826886 rs369167632 |
224 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA294993470 rs369167632 |
224 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8826888 rs749861902 |
228 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1190766858 CA401422994 |
229 | A>S | No |
ClinGen gnomAD |
|
CA401422999 rs1421282377 |
230 | C>R | No |
ClinGen TOPMed |
|
rs779452421 CA8826890 |
230 | C>W | No |
ClinGen ExAC gnomAD |
|
CA294993491 rs866376390 |
231 | A>V | No |
ClinGen gnomAD |
|
rs772199606 CA401423010 |
232 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8826892 rs772199606 |
232 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1403184984 CA401423018 |
233 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA401423019 rs1403184984 |
233 | P>S | No |
ClinGen TOPMed gnomAD |
|
rs1183638797 CA401423039 |
236 | I>L | No |
ClinGen TOPMed |
|
CA401423044 rs1485042595 |
236 | I>N | No |
ClinGen TOPMed |
|
COSM301743 CA401423051 rs1342914435 |
237 | P>L | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs1316714271 CA401423048 |
237 | P>S | No |
ClinGen gnomAD |
|
rs1244641725 CA401423061 |
239 | R>C | No |
ClinGen TOPMed |
|
rs375070592 CA8826896 |
239 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs375070592 CA401423064 |
239 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs201786144 CA8826898 |
240 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8826899 rs772891818 |
240 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1401629705 CA401423071 |
241 | V>L | No |
ClinGen TOPMed |
|
CA8826902 rs751267807 |
244 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs751267807 CA401423089 |
244 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754657609 CA8826903 |
245 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA401423110 rs1351520450 |
246 | Q>H | No |
ClinGen TOPMed |
|
CA8826905 rs752217288 |
246 | Q>L | No |
ClinGen ExAC gnomAD |
|
rs757844412 CA8826906 |
248 | A>P | No |
ClinGen ExAC gnomAD |
|
rs757844412 CA8826907 |
248 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1453382219 CA401423139 |
251 | G>D | No |
ClinGen gnomAD |
|
rs758866130 CA8826909 |
251 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs141395686 CA8826911 |
252 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8826912 rs768826195 |
253 | T>I | No |
ClinGen ExAC gnomAD |
|
CA8826913 rs776695608 |
254 | L>F | No |
ClinGen ExAC gnomAD |
|
rs748164415 CA8826914 |
255 | P>S | No |
ClinGen ExAC gnomAD |
|
CA401423168 rs150398192 |
256 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8826917 rs762765620 |
257 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA294993620 rs1031453012 |
259 | S>L | No |
ClinGen Ensembl |
|
rs992100996 CA294993623 |
261 | S>T | No |
ClinGen Ensembl |
|
rs1192971477 CA401423204 |
263 | S>T | No |
ClinGen gnomAD |
|
rs1268196210 CA401423214 |
264 | N>S | No |
ClinGen gnomAD |
|
rs752268332 CA8826922 |
266 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1440633271 CA401423241 |
269 | D>N | No |
ClinGen gnomAD |
|
rs1220044907 CA401423250 |
270 | P>A | No |
ClinGen TOPMed |
|
rs750986627 CA8826925 |
272 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755203182 CA8826929 |
276 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8826930 rs781447173 |
277 | L>P | No |
ClinGen ExAC gnomAD |
|
rs1244910019 CA401423296 |
278 | P>S | No |
ClinGen gnomAD |
|
rs1460543016 CA401423304 |
279 | V>L | No |
ClinGen TOPMed |
|
CA401423312 rs1222303162 |
280 | P>H | No |
ClinGen TOPMed gnomAD |
|
CA401423311 rs1222303162 |
280 | P>L | No |
ClinGen TOPMed gnomAD |
|
rs1323400886 CA401423310 |
280 | P>S | No |
ClinGen gnomAD |
|
CA8826936 rs774203588 |
284 | A>T | No |
ClinGen ExAC gnomAD |
|
rs759347952 CA8826937 |
285 | P>A | No |
ClinGen ExAC gnomAD |
|
CA401423341 rs1262958859 |
285 | P>L | No |
ClinGen gnomAD |
|
CA8826938 rs759347952 |
285 | P>S | No |
ClinGen ExAC gnomAD |
|
CA401423338 rs759347952 |
285 | P>T | No |
ClinGen ExAC gnomAD |
|
rs760374560 CA8826940 |
286 | F>L | No |
ClinGen ExAC gnomAD |
|
CA294993707 rs943691615 |
287 | V>M | No |
ClinGen gnomAD |
|
CA294993983 rs768607123 |
289 | R>Q | No |
ClinGen gnomAD |
|
rs745852347 CA8826976 |
290 | M>T | No |
ClinGen ExAC gnomAD |
|
CA8826977 rs577903416 |
291 | S>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs1358447063 CA401423393 |
292 | A>V | No |
ClinGen gnomAD |
|
rs779998520 CA8826978 |
295 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746723636 CA401423419 |
296 | T>A | No |
ClinGen ExAC gnomAD |
|
rs746723636 CA8826979 |
296 | T>P | No |
ClinGen ExAC gnomAD |
|
CA8826981 rs776209043 |
297 | P>T | No |
ClinGen ExAC gnomAD |
|
rs544940030 CA8826982 |
298 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1361521420 CA401423440 |
299 | M>I | No |
ClinGen TOPMed |
|
rs757535912 CA294994024 |
299 | M>V | No |
ClinGen Ensembl |
|
rs141436998 CA8826986 |
302 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA8826988 rs761006511 |
303 | T>A | No |
ClinGen ExAC gnomAD |
|
rs754048103 CA401423469 |
304 | G>D | No |
ClinGen ExAC gnomAD |
|
rs944066804 CA294994057 |
304 | G>S | No |
ClinGen TOPMed gnomAD |
|
CA8826990 rs754048103 |
304 | G>V | No |
ClinGen ExAC gnomAD |
|
CA8826991 rs751490909 |
305 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA294994064 rs1041492778 |
305 | P>S | No |
ClinGen TOPMed |
|
CA401423479 rs1478142334 |
306 | D>G | No |
ClinGen gnomAD |
|
rs750460687 CA8826993 |
308 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8826997 rs754765663 |
312 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA294994110 rs754765663 |
312 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746958217 CA8826996 |
312 | P>S | No |
ClinGen ExAC gnomAD |
|
CA401423549 rs1351746625 |
316 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs747775919 CA8826999 |
316 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8827000 rs747775919 |
316 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747775919 CA401423550 |
316 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8827001 rs772717162 |
317 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs866018129 CA294994136 |
318 | A>P | No |
ClinGen gnomAD |
|
CA401423574 rs1310518534 |
320 | Q>R | No |
ClinGen gnomAD |
|
rs748742558 CA8827002 |
321 | P>L | No |
ClinGen ExAC gnomAD |
|
CA8827006 rs561013874 |
324 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs371249844 CA8827007 |
325 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs371249844 CA401423604 |
325 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA401423610 rs1384450987 |
326 | P>L | No |
ClinGen gnomAD |
|
rs528172800 CA8827009 |
327 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs528172800 CA8827010 |
327 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1406617262 CA401423626 |
329 | S>C | No |
ClinGen TOPMed |
|
CA401423625 rs1414453756 |
329 | S>P | No |
ClinGen gnomAD |
|
CA8827013 rs751497094 |
331 | S>G | No |
ClinGen ExAC |
|
rs142524547 CA8827014 |
331 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA294994234 rs201778887 |
334 | S>T | No |
ClinGen TOPMed |
|
rs1023609159 CA294994240 |
335 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs1023609159 CA401423664 |
335 | D>Y | No |
ClinGen TOPMed gnomAD |
|
rs1425310031 CA401423676 |
336 | S>F | No |
ClinGen TOPMed |
|
rs1189316987 CA401423680 |
337 | Y>F | No |
ClinGen TOPMed |
|
CA294994250 rs1013923287 |
341 | L>F | No |
ClinGen TOPMed |
|
CA8827021 rs778465491 |
343 | V>M | No |
ClinGen ExAC gnomAD |
|
rs766633674 CA8827022 |
344 | R>C | No |
ClinGen ExAC gnomAD |
|
CA401423725 rs1382858567 |
344 | R>H | No |
ClinGen gnomAD |
|
rs1242160322 CA401423746 |
347 | V>A | No |
ClinGen gnomAD |
|
rs1568178905 CA401423744 |
347 | V>M | No |
ClinGen Ensembl |
|
CA401423772 rs1189402365 |
351 | N>S | No |
ClinGen gnomAD |
|
rs1237939311 CA401423787 |
353 | Y>S | No |
ClinGen gnomAD |
|
rs762325161 CA8827025 |
354 | A>V | No |
ClinGen ExAC gnomAD |
|
CA401424386 rs1205755840 |
357 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA8827062 rs377734827 |
359 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1598804153 CA401424433 |
360 | T>P | No |
ClinGen Ensembl |
|
CA401424454 rs1395924854 |
361 | L>R | No |
ClinGen gnomAD |
|
rs1420880639 CA401424492 |
366 | S>F | No |
ClinGen gnomAD |
|
rs144299493 CA8827070 |
373 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs771187979 CA401424535 |
373 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771187979 CA8827071 |
373 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8827073 rs370295048 |
374 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs370295048 CA401424540 |
374 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA401424551 rs1311232269 |
376 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs772247244 CA8827074 |
376 | R>H | No |
ClinGen ExAC gnomAD |
|
CA8827075 rs775502491 |
378 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA294994878 rs868516212 |
378 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs1598804386 CA401424595 |
379 | V>G | No |
ClinGen Ensembl |
|
CA294994907 rs971652824 |
384 | S>F | No |
ClinGen TOPMed |
|
rs761731419 CA8827079 |
386 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1680142 CA8827080 rs764906606 COSM1680143 |
388 | G>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1391580828 CA401424735 |
389 | D>A | No |
ClinGen TOPMed gnomAD |
|
CA8827082 rs757938751 |
390 | N>K | No |
ClinGen ExAC gnomAD |
|
rs750134441 CA8827081 |
390 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA401424845 rs1293653505 |
397 | K>E | No |
ClinGen gnomAD |
|
rs930294105 CA294994966 |
397 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs1444210178 CA401424884 |
399 | G>A | No |
ClinGen gnomAD |
|
rs751045704 CA401424905 |
400 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8827085 rs756700120 |
401 | L>F | No |
ClinGen ExAC gnomAD |
|
rs367941559 CA8827086 |
402 | I>V | No |
ClinGen ESP ExAC gnomAD |
|
CA401424938 rs1310438757 |
403 | T>I | No |
ClinGen gnomAD |
|
rs1197054885 CA401425021 |
410 | R>C | No |
ClinGen gnomAD |
|
COSM1387187 COSM1387188 CA294994981 rs1048795319 |
410 | R>H | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs1181674630 CA401425035 |
411 | D>Y | No |
ClinGen gnomAD |
|
rs1426129405 CA401425104 |
416 | G>R | No |
ClinGen gnomAD |
|
rs1389339672 CA401425148 |
418 | S>C | No |
ClinGen TOPMed |
|
rs1164975179 CA401425241 |
422 | K>N | No |
ClinGen TOPMed |
|
rs1242252565 CA401425993 |
424 | R>Q | No |
ClinGen gnomAD |
|
CA8827117 rs769551128 |
430 | S>Y | No |
ClinGen ExAC |
|
rs1157873873 CA401426136 |
433 | R>Q | No |
ClinGen gnomAD |
|
rs1378384366 CA401426169 |
436 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA8827119 rs762712608 |
438 | D>N | No |
ClinGen ExAC gnomAD |
|
rs868482164 CA401426268 |
441 | D>E | No |
ClinGen gnomAD |
|
rs868482164 CA294997053 |
441 | D>E | No |
ClinGen gnomAD |
|
rs1345796272 CA401426254 |
441 | D>N | No |
ClinGen gnomAD |
|
rs1291953702 CA401426287 |
442 | R>S | No |
ClinGen gnomAD |
|
rs1373507555 CA401426293 |
443 | L>V | No |
ClinGen gnomAD |
|
rs551077903 CA294997059 |
445 | M>V | No |
ClinGen TOPMed gnomAD |
|
rs147016372 CA401426345 |
447 | L>V | No |
ClinGen ESP TOPMed gnomAD |
|
rs1217508325 CA401426350 |
448 | Q>E | No |
ClinGen gnomAD |
|
rs1255719699 CA401426354 |
448 | Q>R | No |
ClinGen gnomAD |
|
CA401426359 rs1168863967 |
449 | Q>* | No |
ClinGen TOPMed |
|
CA401426386 rs1190402415 |
452 | S>R | No |
ClinGen TOPMed |
|
rs990703324 CA294997723 |
453 | S>N | No |
ClinGen TOPMed |
|
rs1440624781 CA401426406 |
455 | T>M | No |
ClinGen gnomAD |
|
rs1193077669 CA401426424 |
458 | L>F | No |
ClinGen gnomAD |
|
CA294997779 rs556837209 |
460 | D>A | No |
ClinGen Ensembl |
|
CA8827147 rs199703361 |
460 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA401426443 rs1568185960 |
461 | K>R | No |
ClinGen Ensembl |
|
CA401426451 rs1401863588 |
462 | D>G | No |
ClinGen gnomAD |
|
CA294997830 rs929249306 |
463 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA8827150 rs143678625 |
464 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs756189976 CA8827152 |
468 | P>L | No |
ClinGen ExAC gnomAD |
|
rs756189976 CA8827153 |
468 | P>R | No |
ClinGen ExAC gnomAD |
|
rs148086211 CA8827154 |
469 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8827158 rs745605178 |
469 | P>H | No |
ClinGen ExAC gnomAD |
|
CA8827157 rs745605178 |
469 | P>L | No |
ClinGen ExAC gnomAD |
|
rs148086211 CA8827155 |
469 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8827156 rs148086211 |
469 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs768070859 CA8827161 COSM1387191 COSM1387192 |
470 | D>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA294997868 rs763454584 |
472 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763454584 CA8827163 |
472 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs766813794 CA8827164 |
473 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8827167 rs767894444 |
474 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA294997917 rs922220997 COSM1522819 COSM1522820 |
476 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
rs756312025 CA8827169 |
476 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA294997929 rs960239758 |
479 | P>L | No |
ClinGen gnomAD |
|
CA8827171 rs753906511 |
479 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779054777 CA8827174 |
480 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs779054777 CA8827173 |
480 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8827175 rs758173810 |
480 | A>V | No |
ClinGen ExAC gnomAD |
|
CA8827177 rs746668540 |
483 | A>T | No |
ClinGen ExAC gnomAD |
|
rs768284859 CA8827178 |
484 | S>G | No |
ClinGen ExAC gnomAD |
|
CA8827179 rs780693390 |
484 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs199655276 CA8827182 |
485 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs199655276 CA8827181 |
485 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA401426576 rs1467348606 |
485 | G>V | No |
ClinGen gnomAD |
|
CA401426585 rs1555681992 |
486 | F>L | No |
ClinGen Ensembl |
|
CA294997987 rs919299852 |
487 | K>E | No |
ClinGen gnomAD |
|
CA401426589 rs1254092875 |
487 | K>R | No |
ClinGen gnomAD |
|
CA401426607 rs377234248 |
489 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8827184 rs370082792 |
491 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8827186 rs760813385 |
495 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760813385 CA8827187 |
495 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA401426652 rs765380311 |
497 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765380311 CA8827190 |
497 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1326178487 CA401426657 |
498 | F>L | No |
ClinGen gnomAD |
|
CA401427301 rs1465369089 |
506 | G>E | No |
ClinGen gnomAD |
|
rs767277559 CA8827215 |
506 | G>R | No |
ClinGen ExAC gnomAD |
|
rs1468694528 CA401427322 |
507 | A>E | No |
ClinGen TOPMed |
|
rs752370057 CA8827216 |
507 | A>P | No |
ClinGen ExAC gnomAD |
|
rs1468694528 CA401427329 |
507 | A>V | No |
ClinGen TOPMed |
|
CA8827220 rs746358890 |
508 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746358890 CA8827219 |
508 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA401427341 rs777270344 |
508 | R>W | No |
ClinGen ExAC gnomAD |
|
CA8827221 rs780682682 |
510 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA401427406 rs1213098350 |
511 | S>I | No |
ClinGen gnomAD |
|
CA8827222 rs747445370 |
512 | R>G | No |
ClinGen ExAC gnomAD |
|
CA295011792 rs940925293 |
514 | P>L | No |
ClinGen Ensembl |
|
CA8827337 rs748064943 |
514 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760359913 CA401430854 |
518 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760359913 CA8827339 COSM1387193 |
518 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs773917475 CA8827342 |
519 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA8827341 VAR_050686 rs4969391 |
519 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA8827343 rs369284270 |
520 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
rs1228892520 CA401430887 |
521 | K>M | No |
ClinGen TOPMed |
|
CA8827345 rs775029947 |
522 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762234702 CA8827347 |
522 | P>L | No |
ClinGen ExAC gnomAD |
|
CA8827346 rs762234702 |
522 | P>Q | No |
ClinGen ExAC gnomAD |
|
rs146357701 CA295011822 |
523 | T>K | No |
ClinGen ESP TOPMed gnomAD |
|
CA401430902 rs1568208253 |
523 | T>P | No |
ClinGen Ensembl |
|
CA401430947 rs766705468 |
526 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8827353 rs766705468 |
526 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1182035051 CA401430944 |
526 | N>S | No |
ClinGen TOPMed gnomAD |
|
CA8827354 rs546736073 |
527 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs746311826 CA8827397 |
531 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772293989 CA8827398 |
532 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772293989 CA8827399 |
532 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM562841 rs764303213 CA8827401 |
533 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
CA401431186 rs1196022329 |
534 | Q>* | No |
ClinGen TOPMed |
|
CA401431184 rs1196022329 |
534 | Q>E | No |
ClinGen TOPMed |
|
rs1231136990 CA401431198 |
535 | G>R | No |
ClinGen gnomAD |
|
CA8827404 rs373541595 |
536 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1005411209 CA295012197 |
537 | E>Q | No |
ClinGen Ensembl |
|
rs1475043194 CA401431243 |
538 | G>D | No |
ClinGen gnomAD |
|
CA8827405 rs765281627 |
538 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA401431247 rs149637388 |
539 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs758259928 CA8827407 |
539 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8827406 rs149637388 |
539 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA401431259 rs1387437133 |
540 | E>* | No |
ClinGen TOPMed |
|
CA401431278 rs1306432116 |
541 | H>R | No |
ClinGen TOPMed |
|
CA8827409 rs751240760 |
541 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8827413 rs755574488 |
542 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
rs780691783 CA8827411 |
542 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs780691783 CA8827412 |
542 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA401431290 rs1285619464 |
543 | D>A | No |
ClinGen TOPMed gnomAD |
|
CA401431291 rs1285619464 |
543 | D>G | No |
ClinGen TOPMed gnomAD |
|
CA8827415 rs746339592 |
543 | D>H | No |
ClinGen ExAC gnomAD |
|
rs1213816233 CA401431304 |
545 | S>N | No |
ClinGen gnomAD |
|
CA401431305 rs1213816233 |
545 | S>T | No |
ClinGen gnomAD |
|
rs1248924876 CA401431311 |
546 | A>G | No |
ClinGen TOPMed |
|
rs544323535 CA8827419 |
546 | A>S | No |
ClinGen ExAC gnomAD |
|
rs544323535 CA8827418 |
546 | A>T | No |
ClinGen ExAC gnomAD |
|
rs776985011 CA8827423 |
547 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776985011 CA8827422 |
547 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs765205664 CA8827424 |
547 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA8827425 rs201102086 |
548 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1343954452 CA401431323 |
549 | L>Q | No |
ClinGen TOPMed |
|
rs1417976985 CA401431330 |
550 | A>D | No |
ClinGen TOPMed gnomAD |
|
rs555748569 CA295012271 |
550 | A>P | No |
ClinGen 1000Genomes gnomAD |
|
rs1417976985 CA401431329 |
550 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs143905176 CA8827427 |
551 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA8827428 rs751295798 |
552 | R>K | No |
ClinGen ExAC gnomAD |
No associated diseases with Q9UQB8
Functions
Description | ||
---|---|---|
EC Number | ||
Subcellular Localization |
|
|
PANTHER Family | PTHR14206 | BRAIN-SPECIFIC ANGIOGENESIS INHIBITOR 1-ASSOCIATED PROTEIN 2 |
PANTHER Subfamily | PTHR14206:SF3 | BRAIN-SPECIFIC ANGIOGENESIS INHIBITOR 1-ASSOCIATED PROTEIN 2 |
PANTHER Protein Class | scaffold/adaptor protein | |
PANTHER Pathway Category | No pathway information available |
25 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. |
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. |
dendritic shaft | Cylindric portion of the dendrite, directly stemming from the perikaryon, and carrying the dendritic spines. |
dendritic spine cytoplasm | The region of the neuronal cytoplasm located in dendritic spines. |
excitatory synapse | A synapse in which an action potential in the presynaptic cell increases the probability of an action potential occurring in the postsynaptic cell. |
extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
filopodium | Thin, stiff, actin-based protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal or dendritic growth cone, or a dendritic shaft. |
glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
lamellipodium | A thin sheetlike process extended by the leading edge of a migrating cell or extending cell process; contains a dense meshwork of actin filaments. |
microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
neuron projection branch point | The location where a secondary projection arises from a neuron projection. |
neuron projection terminus | The specialized, terminal region of a neuron projection such as an axon or a dendrite. |
neuronal cell body | The portion of a neuron that includes the nucleus, but excludes cell projections such as axons and dendrites. |
nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
postsynaptic cytosol | The region of the cytosol consisting of all cytosol that is part of the postsynapse. |
postsynaptic density, intracellular component | A network of proteins adjacent to the postsynaptic membrane forming an electron dense disc. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize neurotransmitter receptors in the adjacent membrane, such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components. |
presynaptic cytosol | The region of the cytosol consisting of all cytosol that is part of the presynapse. |
rough endoplasmic reticulum | The rough (or granular) endoplasmic reticulum (ER) has ribosomes adhering to the outer surface; the ribosomes are the site of translation of the mRNA for those proteins which are either to be retained within the cisternae (ER-resident proteins), the proteins of the lysosomes, or the proteins destined for export from the cell. Glycoproteins undergo their initial glycosylation within the cisternae. |
ruffle | Projection at the leading edge of a crawling cell; the protrusions are supported by a microfilament meshwork. |
Schaffer collateral - CA1 synapse | A synapse between the Schaffer collateral axon of a CA3 pyramidal cell and a CA1 pyramidal cell. |
secretory granule | A small subcellular vesicle, surrounded by a membrane, that is formed from the Golgi apparatus and contains a highly concentrated protein destined for secretion. Secretory granules move towards the periphery of the cell and upon stimulation, their membranes fuse with the cell membrane, and their protein load is exteriorized. Processing of the contained protein may take place in secretory granules. |
synaptic membrane | A specialized area of membrane on either the presynaptic or the postsynaptic side of a synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. |
8 GO annotations of molecular function
Name | Definition |
---|---|
cadherin binding involved in cell-cell adhesion | Any cadherin binding that occurs as part of the process of cell-cell adhesion. |
cytoskeletal anchor activity | The binding activity of a protein that brings together a cytoskeletal protein (either a microtubule or actin filament, spindle pole body, or protein directly bound to them) and one or more other molecules, permitting them to function in a coordinated way. |
identical protein binding | Binding to an identical protein or proteins. |
PDZ domain binding | Binding to a PDZ domain of a protein, a domain found in diverse signaling proteins. |
proline-rich region binding | Binding to a proline-rich region, i.e. a region that contains a high proportion of proline residues, in a protein. |
protein C-terminus binding | Binding to a protein C-terminus, the end of a peptide chain at which the 1-carboxyl function of a constituent amino acid is not attached in peptide linkage to another amino-acid residue. |
scaffold protein binding | Binding to a scaffold protein. Scaffold proteins are crucial regulators of many key signaling pathways. Although not strictly defined in function, they are known to interact and/or bind with multiple members of a signaling pathway, tethering them into complexes. |
transcription coregulator binding | Binding to a transcription coregulator, a protein involved in regulation of transcription via protein-protein interactions with transcription factors and other transcription regulatory proteins. Cofactors do not bind DNA directly, but rather mediate protein-protein interactions between regulatory transcription factors and the basal transcription machinery. |
20 GO annotations of biological process
Name | Definition |
---|---|
actin crosslink formation | The process in which two or more actin filaments are connected together by proteins that act as crosslinks between the filaments. The crosslinked filaments may be on the same or differing axes. |
actin filament bundle assembly | The assembly of actin filament bundles; actin filaments are on the same axis but may be oriented with the same or opposite polarities and may be packed with different levels of tightness. |
axonogenesis | De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells. |
brain development | The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.). |
cellular response to epidermal growth factor stimulus | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an epidermal growth factor stimulus. |
cellular response to L-glutamate | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a L-glutamate(1-) stimulus. |
dendrite development | The process whose specific outcome is the progression of the dendrite over time, from its formation to the mature structure. |
insulin receptor signaling pathway | The series of molecular signals generated as a consequence of the insulin receptor binding to insulin. |
modification of synaptic structure, modulating synaptic transmission | Any process that modulates synaptic transmission via modification of the structure of the synapse. |
plasma membrane organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the plasma membrane. |
positive regulation of actin cytoskeleton reorganization | Any process that activates or increases the frequency, rate or extent of actin cytoskeleton reorganization. |
positive regulation of actin filament polymerization | Any process that activates or increases the frequency, rate or extent of actin polymerization. |
positive regulation of dendritic spine morphogenesis | Any process that increases the rate, frequency, or extent of dendritic spine morphogenesis, the process in which the anatomical structures of a dendritic spine are generated and organized. A dendritic spine is a protrusion from a dendrite and a specialized subcellular compartment involved in synaptic transmission. |
positive regulation of excitatory postsynaptic potential | Any process that enhances the establishment or increases the extent of the excitatory postsynaptic potential (EPSP) which is a temporary increase in postsynaptic potential due to the flow of positively charged ions into the postsynaptic cell. The flow of ions that causes an EPSP is an excitatory postsynaptic current (EPSC) and makes it easier for the neuron to fire an action potential. |
protein localization to synapse | Any process in which a protein is transported to, and/or maintained at the synapse, the junction between a nerve fiber of one neuron and another neuron or muscle fiber or glial cell. |
regulation of actin cytoskeleton organization | Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins. |
regulation of cell shape | Any process that modulates the surface configuration of a cell. |
regulation of modification of postsynaptic actin cytoskeleton | Any process that modulates the frequency, rate or extent of modification of postsynaptic actin cytoskeleton. |
regulation of synaptic plasticity | A process that modulates synaptic plasticity, the ability of synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers. |
response to bacterium | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a bacterium. |
6 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q5EAD0 | BAIAP2 | Brain-specific angiogenesis inhibitor 1-associated protein 2 | Bos taurus (Bovine) | PR |
Q9UHR4 | BAIAP2L1 | Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 1 | Homo sapiens (Human) | PR |
Q6UXY1 | BAIAP2L2 | Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2 | Homo sapiens (Human) | PR |
Q80Y61 | Baiap2l2 | Brain-specific angiogenesis inhibitor 1-associated protein 2-like protein 2 | Mus musculus (Mouse) | PR |
Q8BKX1 | Baiap2 | BAR/IMD domain-containing adapter protein 2 | Mus musculus (Mouse) | SS |
Q6GMN2 | Baiap2 | BAR/IMD domain-containing adapter protein 2 | Rattus norvegicus (Rat) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MSLSRSEEMH | RLTENVYKTI | MEQFNPSLRN | FIAMGKNYEK | ALAGVTYAAK | GYFDALVKMG |
70 | 80 | 90 | 100 | 110 | 120 |
ELASESQGSK | ELGDVLFQMA | EVHRQIQNQL | EEMLKSFHNE | LLTQLEQKVE | LDSRYLSAAL |
130 | 140 | 150 | 160 | 170 | 180 |
KKYQTEQRSK | GDALDKCQAE | LKKLRKKSQG | SKNPQKYSDK | ELQYIDAISN | KQGELENYVS |
190 | 200 | 210 | 220 | 230 | 240 |
DGYKTALTEE | RRRFCFLVEK | QCAVAKNSAA | YHSKGKELLA | QKLPLWQQAC | ADPSKIPERA |
250 | 260 | 270 | 280 | 290 | 300 |
VQLMQQVASN | GATLPSALSA | SKSNLVISDP | IPGAKPLPVP | PELAPFVGRM | SAQESTPIMN |
310 | 320 | 330 | 340 | 350 | 360 |
GVTGPDGEDY | SPWADRKAAQ | PKSLSPPQSQ | SKLSDSYSNT | LPVRKSVTPK | NSYATTENKT |
370 | 380 | 390 | 400 | 410 | 420 |
LPRSSSMAAG | LERNGRMRVK | AIFSHAAGDN | STLLSFKEGD | LITLLVPEAR | DGWHYGESEK |
430 | 440 | 450 | 460 | 470 | 480 |
TKMRGWFPFS | YTRVLDSDGS | DRLHMSLQQG | KSSSTGNLLD | KDDLAIPPPD | YGAASRAFPA |
490 | 500 | 510 | 520 | 530 | 540 |
QTASGFKQRP | YSVAVPAFSQ | GLDDYGARSM | SRNPFAHVQL | KPTVTNDRCD | LSAQGPEGRE |
550 | |||||
HGDGSARTLA | GR |