AiPD: Autoinhibited Protein Database

Q99962

Gene name	SH3GL2 (CNSA2, SH3D2A)
Protein name	Endophilin-A1
Names	EEN-B1, Endophilin-1, SH3 domain protein 2A, SH3 domain-containing GRB2-like protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6456
EC number
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-116 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-116 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

5 structures for Q99962

Entry ID	Method	Resolution	Chain	Position	Source
1X03	X-ray	310 A	A	1-247	PDB
1X04	X-ray	290 A			PDB
2D4C	X-ray	240 A	A/B/C/D	1-247	PDB
2DBM	NMR	-	A	293-352	PDB
AF-Q99962-F1	Predicted				AlphaFoldDB

273 variants for Q99962

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	4	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1244481098 CA373100357	4	A>V		No	ClinGen TOPMed
CA373100365 rs1339128585	6	L>F		No	ClinGen TOPMed
rs575767112 CA373100401	10	F>L		No	ClinGen 1000Genomes gnomAD
CA373100413 rs1376637080	12	K>*		No	ClinGen gnomAD
CA4998062 rs748128909	15	Q>R		No	ClinGen ExAC gnomAD
rs768839196 CA4998091	16	K>R		No	ClinGen ExAC TOPMed gnomAD
CA373002452 rs949901949	20	K>N		No	ClinGen Ensembl
CA373002462 rs1434121794	21	V>F		No	ClinGen gnomAD
CA373002623 rs1336219759	31	D>H		No	ClinGen gnomAD
rs1003368445 CA190369994	32	D>A		No	ClinGen TOPMed gnomAD
rs768188380 CA4998094	33	F>L		No	ClinGen ExAC gnomAD
CA373002723 rs1313511322	34	K>I		No	ClinGen TOPMed gnomAD
CA4998096 rs760895777	36	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1188031647 CA373002803	37	E>G		No	ClinGen TOPMed
CA372998854 rs1240758986	39	K>R		No	ClinGen gnomAD
rs761266594 CA4998115	40	V>M		No	ClinGen ExAC TOPMed gnomAD
CA372998875 rs1284302235	42	V>A		No	ClinGen gnomAD
rs766524994 CA4998116	42	V>I		No	ClinGen ExAC gnomAD
CA4998120 rs765533067	50	I>L		No	ClinGen ExAC gnomAD
rs765533067 CA4998119	50	I>V		No	ClinGen ExAC gnomAD
rs1184072165 CA372998937	51	M>I		No	ClinGen gnomAD
rs1233705793 CA372998947	53	K>E		No	ClinGen gnomAD
rs1260071120 CA372998955 COSM1265491	54	T>A	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
TCGA novel	56	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751434805 CA4998123	60	P>A		No	ClinGen ExAC TOPMed gnomAD
rs780520974 CA4998125	61	N>S		No	ClinGen ExAC gnomAD
CA373001206 rs1563853926	63	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA373001220 rs1394821512	66	A>T		No	ClinGen gnomAD
rs774104011 CA4998158 COSM182095	67	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4998159 rs574179015	69	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs767344652 CA4998160	71	I>V		No	ClinGen ExAC gnomAD
rs750307847 CA4998161	72	N>D		No	ClinGen ExAC TOPMed gnomAD
CA4998162 rs750307847	72	N>H		No	ClinGen ExAC TOPMed gnomAD
CA373001282 rs1299402448	74	M>I		No	ClinGen gnomAD
CA4998163 rs765863127	75	S>L		No	ClinGen ExAC gnomAD
CA373001291 rs1216920901	76	K>E		No	ClinGen gnomAD
TCGA novel	77	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1322577523 CA373001307	78	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4998165 rs368973881	78	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs946475290 CA190374526	89	A>G		No	ClinGen TOPMed
rs545737125 CA4998169	91	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1461631960 CA373001413	94	A>V		No	ClinGen TOPMed
CA190374527 rs1043446187	95	E>D		No	ClinGen TOPMed
CA4998172 rs780087418	97	M>T		No	ClinGen ExAC gnomAD
TCGA novel	101	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4998173 rs749411830	101	G>R		No	ClinGen ExAC TOPMed gnomAD
CA373001479 rs1285129310	104	L>F		No	ClinGen TOPMed
TCGA novel	107	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768862710 CA4998174	109	N>D		No	ClinGen ExAC TOPMed gnomAD
CA373001519 TCGA novel rs1421975607	109	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
rs1365168224 CA373001516	109	N>S		No	ClinGen TOPMed gnomAD
TCGA novel	110	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1010309536 CA190374681	112	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	116	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA190374682 rs755033673	117	V>I		No	ClinGen Ensembl
CA190374683 rs746536752	118	G>R		No	ClinGen Ensembl
TCGA novel	120	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA190374684 rs530596324	121	M>V		No	ClinGen Ensembl
rs1438296171 CA373001610	122	R>Q		No	ClinGen gnomAD
CA4998196 rs772230406	122	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1369428239 CA373001627	125	S>A		No	ClinGen TOPMed
CA373001631 rs1219183971	125	S>L		No	ClinGen gnomAD
rs1369428239 CA373001626	125	S>P		No	ClinGen TOPMed
TCGA novel	127	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759546571 CA4998201	128	K>E		No	ClinGen ExAC gnomAD
CA4998202 rs764803985	130	S>F		No	ClinGen ExAC gnomAD
CA373001670 rs1330999376	131	L>S		No	ClinGen gnomAD
CA373001686 rs1398371813	133	I>M		No	ClinGen gnomAD
CA190374687 rs367593553	133	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA
rs1275197147 CA373001722	138	N>I		No	ClinGen gnomAD
CA373001720 rs1275197147 COSM1107542	138	N>T	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA190374688 rs1019297708	139	F>C		No	ClinGen TOPMed gnomAD
CA190374689 rs987335646	140	I>T		No	ClinGen Ensembl
CA373001733 rs1217368507	140	I>V		No	ClinGen gnomAD
rs762646779 CA373001750	142	P>L		No	ClinGen ExAC gnomAD
rs762646779 CA4998205	142	P>R		No	ClinGen ExAC gnomAD
rs371767677 CA190374690	143	L>F		No	ClinGen ESP TOPMed gnomAD
rs371767677 CA373001752	143	L>V		No	ClinGen ESP TOPMed gnomAD
CA373001762 rs1377202401	144	Q>H		No	ClinGen TOPMed
CA4998206 rs763696032	147	H>D		No	ClinGen ExAC gnomAD
rs540476775 CA4998207	147	H>L		No	ClinGen 1000Genomes ExAC gnomAD
CA373001791 rs1435472405	148	D>E		No	ClinGen TOPMed
rs201518421 CA4998208	149	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs376054581 CA4998210	150	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs766744293 CA4998209	150	D>G		No	ClinGen ExAC gnomAD
TCGA novel	150	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4998211 rs755497732	151	L>F		No	ClinGen ExAC gnomAD
TCGA novel	151	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1170019860 CA373001812	152	R>K		No	ClinGen gnomAD
rs758639212 CA4998214	154	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1324003525 CA373001832	155	Q>E		No	ClinGen TOPMed gnomAD
CA4998239 rs749264048	156	H>Q		No	ClinGen ExAC gnomAD
TCGA novel	161	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1471921718 CA373001909	164	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM3433044 rs1180303494 CA373001915	165	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA4998243 rs771751756	167	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1404256639 CA373001946	169	D>E		No	ClinGen gnomAD
CA190374945 rs17853095	173	K>E		No	ClinGen Ensembl
rs759948475 CA4998246	174	R>*		No	ClinGen ExAC TOPMed gnomAD
rs759948475 CA4998247	174	R>G		No	ClinGen ExAC TOPMed gnomAD
CA373001978 rs1338357898	174	R>Q		No	ClinGen gnomAD
rs1436198291 COSM214284 CA373002015	179	P>L	Variant assessed as Somatic; impact. endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA373002020 rs1196948505	180	D>V		No	ClinGen TOPMed
rs1378037734 CA373002028	181	E>G		No	ClinGen gnomAD
CA4998251 rs751741211	183	L>V		No	ClinGen ExAC TOPMed gnomAD
rs757525551 CA4998252	184	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1643797 rs781631698 CA4998253	184	R>H	Variant assessed as Somatic; 0.0 impact. stomach [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	187	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1363432049 CA373002064	187	L>V		No	ClinGen TOPMed gnomAD
CA4998254 rs750231629	188	E>D		No	ClinGen ExAC gnomAD
CA4998256 rs376134896	191	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA373002094 rs1200691846	191	D>V		No	ClinGen gnomAD
TCGA novel	192	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373002098 rs1216304266	192	E>K		No	ClinGen gnomAD
CA373002120 rs1176508437	195	E>*		No	ClinGen gnomAD
rs1478286302 CA373002131	196	I>N		No	ClinGen gnomAD
CA373002135 rs1171518111	197	A>T		No	ClinGen gnomAD
CA373002154 rs1466875562	199	S>L		No	ClinGen gnomAD
CA4998259 rs778252771	200	S>G		No	ClinGen ExAC gnomAD
rs371069680 CA4998260	203	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4998261 rs138259584	204	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1327009104 CA373002196	205	L>F		No	ClinGen Ensembl
TCGA novel	205	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373002204 rs1305282768	206	E>D		No	ClinGen TOPMed gnomAD
rs1479176820 CA373002199	206	E>Q		No	ClinGen Ensembl
CA4998262 rs375439748	207	M>V		No	ClinGen ESP ExAC gnomAD
CA190374947 rs971355071	208	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	209	I>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373002428 rs1256478484	209	I>T		No	ClinGen gnomAD
rs374783522 CA4998303	209	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA373002478 rs1422826844	211	Q>*		No	ClinGen gnomAD
CA4998304 rs748618916	215	L>I		No	ClinGen ExAC TOPMed gnomAD
CA373002578 rs1383696533	215	L>P		No	ClinGen gnomAD
CA190375242 rs1051964069	216	S>Y		No	ClinGen Ensembl
CA373002617 rs1159845276	217	A>V		No	ClinGen gnomAD
CA373002684 rs1345111587	220	Q>L		No	ClinGen gnomAD
rs1355359772 CA373002702	221	A>G		No	ClinGen gnomAD
rs760865937 CA4998307 COSM382576	221	A>T	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4998308 rs149622931	222	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA373002738 rs1380198537	223	L>V		No	ClinGen gnomAD
rs1395631064 CA373002751	224	E>Q		No	ClinGen TOPMed gnomAD
rs1427434423 CA373002785	225	Y>C		No	ClinGen TOPMed
TCGA novel	226	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1312655103 CA373002850	227	K>E		No	ClinGen gnomAD
rs776842668 CA4998309	227	K>R		No	ClinGen ExAC gnomAD
rs759704612 CA4998310	228	Q>E		No	ClinGen ExAC gnomAD
CA4998311 rs764960735	228	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA373002906 rs1188675492	229	A>V		No	ClinGen TOPMed
rs752535226 CA4998312	230	V>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA373002924 rs1211642528	230	V>G		No	ClinGen gnomAD
CA373002999 rs1197901325	233	L>R		No	ClinGen TOPMed
rs751024344 CA4998315	234	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA373003013 rs1239602961	234	Q>P		No	ClinGen gnomAD
CA373003047 rs1179617714	236	V>F		No	ClinGen gnomAD
CA4998316 rs184274084	237	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1275388881 CA373003069	238	V>I		No	ClinGen TOPMed
rs750052535 CA4998318	241	E>G		No	ClinGen ExAC gnomAD
CA4998346 rs142672805	244	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA373003465 rs1478277748	244	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	244	I>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768458601 CA373003478	246	Q>*		No	ClinGen ExAC gnomAD
CA4998348 rs768458601	246	Q>E		No	ClinGen ExAC gnomAD
CA373003484 rs1374394931	247	A>P		No	ClinGen gnomAD
CA373003486 rs1374394931	247	A>S		No	ClinGen gnomAD
CA373003485 rs1374394931	247	A>T		No	ClinGen gnomAD
rs1165189105 CA373003490	247	A>V		No	ClinGen gnomAD
rs761788869 CA4998350	250	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs761788869 CA373003515	250	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs767397662 CA4998351	250	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs767397662 CA190375537	250	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1340537811 CA373003541	252	R>K		No	ClinGen gnomAD
TCGA novel	253	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs952883769 CA190375538	254	E>Q		No	ClinGen Ensembl
CA190375539 rs907701905	255	Y>*		No	ClinGen gnomAD
rs1230406384 CA373003599	256	Q>L		No	ClinGen gnomAD
CA4998356 rs370117499	257	P>R		No	ClinGen ESP ExAC gnomAD
rs148420843 CA4998355	257	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA373003628 rs1288764821	259	P>A		No	ClinGen gnomAD
rs1045625441 CA190375540	259	P>R		No	ClinGen Ensembl
rs751906805 CA4998358	260	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1461605 rs757775684 CA4998359	260	R>Q	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
rs1473870587 CA373003653	261	M>I		No	ClinGen gnomAD
rs1240630288 CA373003649	261	M>T		No	ClinGen TOPMed gnomAD
rs201913525 CA4998360	261	M>V		No	ClinGen ExAC TOPMed gnomAD
CA373003662 rs1182267155	262	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1182267155 CA373003664	262	S>T		No	ClinGen gnomAD
rs1259789323 CA373003692	264	E>D		No	ClinGen TOPMed
rs373328540 CA4998362	264	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs765215611 CA4998363	266	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4998364 rs141085502	267	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373003720 rs1360566873	267	T>I		No	ClinGen TOPMed gnomAD
rs1360566873 CA373003719	267	T>S		No	ClinGen TOPMed gnomAD
CA373003731 rs1316184108	269	D>N		No	ClinGen gnomAD
CA190375541 rs774166488	270	S>I		No	ClinGen ExAC TOPMed gnomAD
rs774166488 CA373003746	270	S>N		No	ClinGen ExAC TOPMed gnomAD
CA4998366 rs774166488	270	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1371291515 CA373003762	271	T>I		No	ClinGen TOPMed
CA373003770 rs1244229766	272	Q>*		No	ClinGen gnomAD
CA373003767 rs1244229766	272	Q>E		No	ClinGen gnomAD
rs1312147607 CA373003790	273	P>R		No	ClinGen gnomAD
CA4998367 rs142575982	274	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs146895243 CA190375542	275	G>R		No	ClinGen 1000Genomes TOPMed gnomAD
CA190375543 rs146895243	275	G>W		No	ClinGen 1000Genomes TOPMed gnomAD
CA4998368 rs150543523	276	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773215753 CA4998369	277	L>P		No	ClinGen ExAC TOPMed gnomAD
rs200824412 CA4998370	278	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs200824412 CA373003838	278	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA4998371 rs139561767	279	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA373003846 rs1242748977	279	H>Y		No	ClinGen gnomAD
rs1176144215 CA373003862	280	T>I		No	ClinGen TOPMed
rs776326202 CA373003871	281	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4998372 rs776326202	281	G>V		No	ClinGen ExAC gnomAD
rs1469526352 CA373003894	283	P>A		No	ClinGen gnomAD
CA373003905 rs1156307072	284	K>E		No	ClinGen gnomAD
TCGA novel	284	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1414527312 CA373003927	287	G>C		No	ClinGen gnomAD
rs373921180 CA4998394	288	V>I		No	ClinGen ESP ExAC gnomAD
CA373004096 rs1490476561	289	Q>R		No	ClinGen gnomAD
TCGA novel	290	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4998395 rs370568983	290	M>V		No	ClinGen ExAC TOPMed gnomAD
rs767825414 CA4998396	292	Q>E		No	ClinGen ExAC gnomAD
COSM3942987 CA4998399 rs377538406	292	Q>H	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs750835538 CA4998397	292	Q>L		No	ClinGen ExAC gnomAD
rs1372109079 CA373004153	295	C>S		No	ClinGen gnomAD
rs1020453667 CA190375830	296	R>*		No	ClinGen TOPMed gnomAD
rs370370071 CA4998401	296	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370370071 CA4998400	296	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752812516 CA4998403	297	A>G		No	ClinGen ExAC gnomAD
rs779080747 CA4998402	297	A>S		No	ClinGen ExAC gnomAD
CA4998406 rs139383722	300	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4998405 COSM107345 rs139383722	300	D>N	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
TCGA novel	302	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	303	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1198361878 CA373004207	304	E>Q		No	ClinGen TOPMed gnomAD
CA373004224 rs1296645419	306	E>*		No	ClinGen TOPMed gnomAD
rs1326062346 CA373004233	307	G>E		No	ClinGen gnomAD
TCGA novel	307	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373004279 rs1182116635	313	E>D		No	ClinGen TOPMed
COSM3699630 rs745825443 CA4998409	314	G>D	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs375212321 CA4998408 COSM326461	314	G>S	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA4998412 COSM1107544 rs762492029	315	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1489006766 CA373004293	316	I>V		No	ClinGen gnomAD
CA373004301 rs1475487022	317	I>V		No	ClinGen gnomAD
rs1186585152 CA373004311	318	T>I		No	ClinGen gnomAD
CA190375832 rs941321083	320	T>S		No	ClinGen TOPMed
CA373004326 rs1349696874	321	N>S		No	ClinGen TOPMed
CA373004335 rs1444671962	322	Q>H		No	ClinGen TOPMed
CA190375833 rs867743524	322	Q>K		No	ClinGen Ensembl
CA190375834 rs973963316	322	Q>R		No	ClinGen TOPMed gnomAD
CA4998416 COSM393851 rs766732200	324	D>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs766732200 COSM455726 CA4998417	324	D>N	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	325	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760110411 CA4998418	325	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs756544016 CA190375836	326	N>K		No	ClinGen Ensembl
TCGA novel	326	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1421661714 CA373004388	329	E>D		No	ClinGen gnomAD
CA373004392 rs915787597 COSM1700960	330	G>E	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA190375837 rs915787597	330	G>V		No	ClinGen gnomAD
CA190375838 rs781457075	331	M>V		No	ClinGen Ensembl
rs765209610 CA4998419	333	H>R		No	ClinGen ExAC TOPMed gnomAD
rs918471387 CA190375839	333	H>Y		No	ClinGen TOPMed
CA190375840 rs1036181347	334	G>D		No	ClinGen TOPMed gnomAD
CA373004420 rs1383318419	335	H>Y		No	ClinGen gnomAD
CA373004435 rs758685786	337	G>D		No	ClinGen ExAC TOPMed gnomAD
CA4998421 rs758685786	337	G>V		No	ClinGen ExAC TOPMed gnomAD
CA4998422 rs778196221	338	F>V		No	ClinGen ExAC gnomAD
rs1415016344 CA373004460	341	I>N		No	ClinGen TOPMed
CA4998424 rs757049415	341	I>V		No	ClinGen ExAC TOPMed gnomAD
CA190375842 rs749097999	342	N>S		No	ClinGen TOPMed
rs1243345507 CA373004513	349	A>S		No	ClinGen gnomAD
CA373004516 rs1462099808	349	A>V		No	ClinGen TOPMed gnomAD
rs1421330202 CA373004525	351	P>H		No	ClinGen gnomAD

No associated diseases with Q99962

2 regional properties for Q99962

Type	Name	Position	InterPro Accession
domain	Nuclear hormone receptor, ligand-binding domain	146 - 433	IPR000536
domain	Zinc finger, nuclear hormone receptor-type	38 - 114	IPR001628

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Membrane ; Peripheral membrane protein Early endosome Presynapse
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

11 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
cell projection	A prolongation or process extending from a cell, e.g. a flagellum or axon.
clathrin-coated endocytic vesicle membrane	The lipid bilayer surrounding a clathrin-coated endocytic vesicle.
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.
early endosome	A membrane-bounded organelle that receives incoming material from primary endocytic vesicles that have been generated by clathrin-dependent and clathrin-independent endocytosis; vesicles fuse with the early endosome to deliver cargo for sorting into recycling or degradation pathways.
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
presynapse	The part of a synapse that is part of the presynaptic cell.

2 GO annotations of molecular function

Name	Definition
identical protein binding	Binding to an identical protein or proteins.
lipid binding	Binding to a lipid.

9 GO annotations of biological process

Name	Definition
cellular response to brain-derived neurotrophic factor stimulus	A 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 brain-derived neurotrophic factor stimulus.
central nervous system development	The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord.
dendrite extension	Long distance growth of a single dendrite involved in cellular development.
negative regulation of blood-brain barrier permeability	Any process that decreases blood-brain barrier permeability, the quality of the blood-brain barrier that allows for a controlled passage of substances (e.g. macromolecules, small molecules, ions) into and out of the brain.
negative regulation of gene expression	Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
negative regulation of protein phosphorylation	Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein.
neuron projection development	The process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
synaptic vesicle uncoating	The removal of the protein coat on a synaptic vesicle following the pinching step at the end of budding from the presynaptic membrane.

15 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q2KJA1	SH3GL1	Endophilin-A2	Bos taurus (Bovine)	PR
Q8AXU9	SH3GL3	Endophilin-A3	Gallus gallus (Chicken)	PR
Q8AXV1	SH3GL2	Endophilin-A1	Gallus gallus (Chicken)	PR
Q5HYK7	SH3D19	SH3 domain-containing protein 19	Homo sapiens (Human)	PR
Q9Y371	SH3GLB1	Endophilin-B1	Homo sapiens (Human)	PR
Q99961	SH3GL1	Endophilin-A2	Homo sapiens (Human)	PR
Q99963	SH3GL3	Endophilin-A3	Homo sapiens (Human)	PR
Q9Y5K6	CD2AP	CD2-associated protein	Homo sapiens (Human)	SS
Q96B97	SH3KBP1	SH3 domain-containing kinase-binding protein 1	Homo sapiens (Human)	EV
Q62421	Sh3gl3	Endophilin-A3	Mus musculus (Mouse)	PR
Q62419	Sh3gl1	Endophilin-A2	Mus musculus (Mouse)	PR
Q62420	Sh3gl2	Endophilin-A1	Mus musculus (Mouse)	PR
Q9JK48	Sh3glb1	Endophilin-B1	Mus musculus (Mouse)	PR
O35180	Sh3gl3	Endophilin-A3	Rattus norvegicus (Rat)	PR
O35179	Sh3gl2	Endophilin-A1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MSVAGLKKQF	HKATQKVSEK	VGGAEGTKLD	DDFKEMERKV	DVTSRAVMEI	MTKTIEYLQP
70	80	90	100	110	120
NPASRAKLSM	INTMSKIRGQ	EKGPGYPQAE	ALLAEAMLKF	GRELGDDCNF	GPALGEVGEA
130	140	150	160	170	180
MRELSEVKDS	LDIEVKQNFI	DPLQNLHDKD	LREIQHHLKK	LEGRRLDFDY	KKKRQGKIPD
190	200	210	220	230	240
EELRQALEKF	DESKEIAESS	MFNLLEMDIE	QVSQLSALVQ	AQLEYHKQAV	QILQQVTVRL
250	260	270	280	290	300
EERIRQASSQ	PRREYQPKPR	MSLEFPTGDS	TQPNGGLSHT	GTPKPSGVQM	DQPCCRALYD
310	320	330	340	350
FEPENEGELG	FKEGDIITLT	NQIDENWYEG	MLHGHSGFFP	INYVEILVAL	PH