AiPD: Autoinhibited Protein Database

O95976

Gene name	IGSF6 (DORA)
Protein name	Immunoglobulin superfamily member 6
Names	IgSF6, Protein DORA
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10261
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

149-241 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

149-241 (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

1 structures for O95976

Entry ID	Method	Resolution	Chain	Position	Source
AF-O95976-F1	Predicted				AlphaFoldDB

209 variants for O95976

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1201264970 CA395059753	2	G>R		No	ClinGen TOPMed
CA7952058 rs200550835	3	T>N		No	1000Genomes ExAC gnomAD ClinGen
rs565354015 CA395059740	4	A>E		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs565354015 CA7952057	4	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781488951 CA7952056	6	R>S		No	ExAC ClinGen
rs1269295872 CA395059727	6	R>T		No	ClinGen gnomAD
rs1208595858 CA395059718	7	S>R		No	ClinGen TOPMed gnomAD
TCGA novel	8	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1276905210 CA395059706	9	I>F		No	ClinGen gnomAD
CA7952053 rs780421744	10	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA7952052 rs758599428	11	R>C		No	ExAC TOPMed gnomAD ClinGen
rs368774015 CA7952051	11	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1367335426 CA395059683	13	L>V		No	gnomAD ClinGen
CA7952050 rs747997806	15	T>N		No	ClinGen ExAC TOPMed gnomAD
rs757339391 CA7952049	16	N>T		No	ExAC TOPMed gnomAD ClinGen
CA395059657 rs1383057882	17	L>F		No	TOPMed ClinGen
CA7952048 rs753956942	17	L>P		No	ExAC gnomAD ClinGen
CA7952047 rs376663815	18	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA279398447 rs576015170	19	L>P		No	Ensembl ClinGen
rs142541478 CA7952046	21	C>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA279398441 rs943644897	21	C>W		No	TOPMed gnomAD ClinGen
CA7952045 rs142541478	21	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs910785304	22	V>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA395059628 rs1451434837	22	V>A		No	ClinGen gnomAD
rs1191872197 CA395059631	22	V>I		No	gnomAD ClinGen
TCGA novel	23	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143387566 CA7952044	23	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs548553916 CA7952025	24	A>G		No	1000Genomes ExAC gnomAD ClinGen
CA7952026 rs777956569	24	A>T		No	ExAC TOPMed gnomAD ClinGen
rs1375131087 CA395059183	25	V>L		No	TOPMed ClinGen
rs151150797 CA7952022	27	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7952021 rs750232505	28	C>Y		No	ClinGen ExAC gnomAD
TCGA novel	29	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7952020 rs764761471	29	T>I		No	ClinGen ExAC TOPMed
rs1278926304 CA395059141	30	L>V		No	TOPMed ClinGen
CA279397206 rs975254774	32	V>A		No	TOPMed ClinGen
CA7952019 rs761553423	32	V>F		No	ClinGen ExAC
rs763636136 CA7952015	33	T>A		No	ClinGen ExAC gnomAD
CA395059080 rs1408251486	35	P>L		No	ClinGen TOPMed gnomAD
CA7952013 rs776035836	35	P>S		No	ClinGen ExAC gnomAD
rs746178604 CA7952011	36	W>*		No	ClinGen ExAC gnomAD
rs1475130329 CA395059066	36	W>*		No	gnomAD ClinGen
rs746178604 CA395059071	36	W>L		No	ClinGen ExAC gnomAD
rs1416165646 CA395059062	37	Y>D		No	ClinGen gnomAD
CA395059061 rs1184770125	37	Y>S		No	ClinGen gnomAD
CA7952009 rs771034810	39	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1435528395 CA395059030	40	V>M		No	TOPMed ClinGen
rs1334054212 CA395058995	42	Y>*		No	gnomAD ClinGen
rs1210371478 CA395059000	42	Y>C		No	gnomAD ClinGen
rs1291319660 CA395059004	42	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA7952006 rs756317662	45	E>D		No	ExAC ClinGen
rs748247374 CA7952005	46	A>T		No	ClinGen ExAC gnomAD
rs116192352 CA7952003	47	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200635568 CA7952001	48	T>I		No	ExAC TOPMed gnomAD ClinGen
rs200635568 CA7952002	48	T>S		No	ClinGen ExAC TOPMed gnomAD
rs189739425 CA7952000	49	I>M		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs753594905 CA7951998	52	T>I		No	ExAC TOPMed gnomAD ClinGen
rs753594905 CA395058877	52	T>N		No	ExAC TOPMed gnomAD ClinGen
rs756831346 CA7951999	52	T>P		No	ClinGen ExAC gnomAD
CA395058866 rs1228329207	53	F>L		No	TOPMed gnomAD ClinGen
rs763582744 CA7951997	53	F>S		No	ClinGen ExAC gnomAD
CA7951995 rs374014200	55	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs767963050 CA7951994	56	T>I		No	ClinGen ExAC gnomAD
TCGA novel	57	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395058834 CA7951992 rs370573910	57	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	58	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749455636 CA7951990	58	C>W		No	ExAC TOPMed gnomAD ClinGen
CA395058794 rs1460362348	60	S>A		No	ClinGen TOPMed gnomAD
rs1210455639 CA395058788	60	S>F		No	gnomAD ClinGen
rs1233562463 CA395058781	61	E>G		No	TOPMed ClinGen
rs773508193 CA7951989	61	E>K		No	ClinGen ExAC gnomAD
CA395058775 rs1276291394	62	Q>K		No	ClinGen TOPMed
TCGA novel	63	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1337018100 CA395058746	64	T>S		No	TOPMed ClinGen
CA395058698 rs1349766840	68	F>V		No	gnomAD ClinGen
COSM968485 CA7951988 rs373342802	69	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1567347146 CA395058684	69	R>H		No	ClinGen Ensembl
CA7951986 rs781448340	71	G>S		No	ExAC gnomAD ClinGen
rs771885163 CA7951985	72	A>S		No	ExAC gnomAD ClinGen
rs1417708308 CA395058648	72	A>V		No	gnomAD ClinGen
CA395058639 rs1434156255	73	H>Q		No	ClinGen TOPMed
CA279397113 rs17851574 VAR_039137	74	Q>R		No	Ensembl ClinGen UniProt dbSNP
TCGA novel	75	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	76	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395058608 rs1201428304	76	E>G		No	TOPMed ClinGen
CA395058576 rs1440225239	79	C>R		No	gnomAD ClinGen
rs967018221 CA279397112	82	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7951982 rs370477124	83	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs778571289 CA7951983	83	C>Y		No	ExAC gnomAD ClinGen
CA395058516 rs1157355589	84	K>R		No	ClinGen gnomAD
TCGA novel	85	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7951980 rs563502288	88	D>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395058465 rs563502288	88	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395058444 rs1193770582	90	F>L		No	gnomAD ClinGen
TCGA novel	92	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1250550538 CA395058400	94	E>Q		No	ClinGen gnomAD
CA395058383 rs1248384987	95	A>V		No	ClinGen TOPMed gnomAD
rs755785405 CA7951979	96	L>F		No	ExAC gnomAD ClinGen
rs1034961459 CA279397088	98	E>D		No	ClinGen Ensembl
rs1213384130 CA395058326	100	Q>*		No	ClinGen gnomAD
CA395058320 rs1314206515	100	Q>H		No	ClinGen gnomAD
rs752179827 CA7951978	101	V>A		No	ClinGen ExAC gnomAD
CA7951977 rs767052856	102	S>P		No	ExAC TOPMed gnomAD ClinGen
rs541756545 CA7951976	103	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs202168035 CA7951975	105	V>I		No	1000Genomes ExAC gnomAD ClinGen
rs1387186689 CA395058261	107	R>*		No	TOPMed ClinGen
rs766807948 CA7951974	108	V>A		No	ClinGen ExAC gnomAD
rs773739508 CA7951972	111	N>S		No	ExAC TOPMed ClinGen
CA395058209 rs1287529022	112	D>N		No	ClinGen TOPMed gnomAD
CA395058177 rs1450603029	114	A>V		No	gnomAD ClinGen
rs970342564 CA279397060	117	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA395058117 rs1597786703	120	I>L		No	Ensembl ClinGen
rs1173908688 CA395058108	120	I>T		No	ClinGen gnomAD
rs762179953 CA7951970	121	A>G		No	ClinGen ExAC gnomAD
rs1392741870 CA395058094	122	F>L		No	gnomAD ClinGen
rs1169926645 CA395058074	123	P>L		No	gnomAD ClinGen
CA395058060 rs1273159631	124	S>R		No	TOPMed ClinGen
rs1489083834 CA395058051	125	V>A		No	TOPMed ClinGen
CA7951969 rs186067099	126	P>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA7951967 rs147257312 COSM968484	128	A>V	endometrium [Cosmic]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated
CA395058012 rs1257919056	129	R>K		No	gnomAD ClinGen
CA7951965 rs770779016	131	K>E		No	ExAC gnomAD ClinGen
CA7951964 rs144045651	131	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA279397038 rs1027551065	132	Q>E		No	TOPMed gnomAD ClinGen
rs1307469859 CA395057969	133	T>K		No	gnomAD ClinGen
rs752410978 CA7951961	134	G>E		No	ExAC TOPMed gnomAD ClinGen
rs758754048	136	G>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs376880564 CA279397026	137	T>P		No	ClinGen ESP TOPMed
rs754450106 CA7951959	139	L>M		No	ClinGen ExAC gnomAD
CA7951958 rs754450106	139	L>V		No	ClinGen ExAC gnomAD
rs531915033 CA279397014	141	V>I		No	ClinGen TOPMed gnomAD
rs531915033 CA279397010	141	V>L		No	TOPMed gnomAD ClinGen
rs766865720 CA7951956	142	R>K		No	ClinGen ExAC gnomAD
rs911640770 CA395057423	146	L>M		No	TOPMed gnomAD ClinGen
rs758042522 COSM968482 CA7951919	147	L>F	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
CA395057409 rs1380346969	148	S>T		No	TOPMed ClinGen
rs757872746 CA7951916	151	L>R		No	ClinGen ExAC gnomAD
CA7951917 rs543364360	151	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555594311 CA279395826	152	R>Q		No	ClinGen gnomAD
rs75597368 CA7951914	152	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199935071 CA279395824	157	A>V		No	TOPMed gnomAD ClinGen
rs752918572 CA7951912	159	V>A		No	ClinGen ExAC gnomAD
CA395057345 rs188280590	159	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7951913 CA395057344 rs188280590	159	V>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA395057337 rs1241789601	160	S>L		No	TOPMed ClinGen
CA7951911 rs767737906	160	S>T		No	ExAC TOPMed gnomAD ClinGen
CA7951910 rs759541983	161	L>P		No	ClinGen ExAC
CA7951908 rs774443519	162	L>F		No	ClinGen ExAC TOPMed gnomAD
rs774443519 CA279395796	162	L>V		No	ExAC TOPMed gnomAD ClinGen
rs147078896 CA279395790	163	S>F		No	ESP ClinGen
rs1171834180 CA395057318	164	V>G		No	ClinGen gnomAD
CA279395789 rs148987305	165	Y>C		No	ClinGen ESP gnomAD
rs768406130 CA7951904	166	V>A		No	ExAC gnomAD ClinGen
rs1013950435 CA279395786	166	V>M		No	TOPMed gnomAD ClinGen
CA395057301 rs1158120030	167	T>I		No	ClinGen TOPMed
CA7951902 rs543143297	168	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1161229294 CA395057291	169	V>A		No	TOPMed ClinGen
rs1161229294 CA395057290	169	V>G		No	ClinGen TOPMed
rs138907452 CA7951900	171	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	172	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs797004510 CA279395774	173	F>I		No	TOPMed ClinGen
rs2290612 VAR_039138 CA7951899	173	F>S		No	1000Genomes ExAC gnomAD ClinGen UniProt dbSNP
rs771542747 CA7951898	175	L>F		No	ClinGen ExAC gnomAD
CA395057242 rs1226556215	177	S>C		No	gnomAD ClinGen
rs959821452 CA279395765	178	K>E		No	ClinGen TOPMed gnomAD
rs1314427275 CA395057238	178	K>R		No	ClinGen gnomAD
CA279395481 rs938325492	183	P>L		No	ClinGen TOPMed gnomAD
CA395057164 rs938325492	183	P>R		No	ClinGen TOPMed gnomAD
CA7951877 rs150110933	184	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs755158525 CA7951875	185	R>K		No	ClinGen ExAC gnomAD
rs751849987 VAR_039139 CA7951874	186	N>K		No	ClinGen UniProt ExAC dbSNP gnomAD
rs77836477 CA7951873	188	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs758355887 CA7951872	189	I>K		No	ClinGen ExAC TOPMed gnomAD
rs758355887 CA395057102	189	I>T		No	ClinGen ExAC TOPMed gnomAD
CA7951871 rs750525480	190	K>N		No	ClinGen ExAC gnomAD
TCGA novel	191	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7951870 rs763899088	191	E>K		No	ExAC gnomAD ClinGen
CA395057064 rs1333892235	192	D>E		No	ClinGen gnomAD
rs551101179 CA279395275	196	K>N		No	TOPMed gnomAD ClinGen
CA279395261 rs931478695	199	A>V		No	Ensembl ClinGen
rs367949386 CA7951847	200	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
CA395056835 rs1417417552	200	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM1210425 CA7951845 rs192939219	201	R>C	large_intestine [Cosmic]	No	1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated
rs146422757 CA7951844	201	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
COSM557222 rs192939219 CA7951846	201	R>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
TCGA novel	201	R>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395056793 rs1188152687	206	I>T		No	ClinGen gnomAD
CA7951841 rs762711923	209	E>Q		No	ExAC gnomAD ClinGen
CA395056766 rs1214743865	210	L>P		No	ClinGen gnomAD
CA395056752 rs1210215366	212	H>R		No	ClinGen gnomAD
CA395056754 rs1281212910	212	H>Y		No	gnomAD ClinGen
CA395056740 rs1311008532	214	R>G		No	ClinGen gnomAD
rs780004119 CA7951839	216	V>M		No	ClinGen ExAC gnomAD
CA7951838 rs762297637	217	E>A		No	ExAC gnomAD ClinGen
rs1361713041 CA395056701	219	N>K		No	gnomAD ClinGen
CA279395248 rs941776824	220	Q>R		No	TOPMed ClinGen
rs769159530 CA7951836	221	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1376862296 CA395056682	222	S>Y		No	gnomAD ClinGen
rs143990839 CA7951810	225	D>E		No	ESP ExAC TOPMed gnomAD ClinGen
CA395056605 rs1422266607	228	T>A		No	ClinGen gnomAD
rs1298541902 CA395056580	230	E>K		No	ClinGen TOPMed
rs555661181 CA7951806	231	N>K		No	1000Genomes ExAC gnomAD ClinGen
CA395056541 rs1216052064	233	R>G		No	TOPMed gnomAD ClinGen
CA7951805 rs771307678	235	L>P		No	ExAC gnomAD ClinGen
rs140374155 CA7951804	237	N>D		No	ESP ExAC TOPMed gnomAD ClinGen
CA395056470 rs1210254792	239	E>A		No	ClinGen TOPMed
rs778045009 CA7951803	239	E>D		No	ExAC TOPMed gnomAD ClinGen
rs1463341033 CA395056458	240	R>K		No	ClinGen TOPMed
TCGA novel	241	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with O95976

2 regional properties for O95976

Type	Name	Position	InterPro Accession
domain	Immunoglobulin-like domain	45 - 118	IPR007110
domain	Immunoglobulin V-set domain	43 - 141	IPR013106

Functions

		Description
EC Number
Subcellular Localization	Membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

1 GO annotations of molecular function

Name	Definition
transmembrane signaling receptor activity	Combining with an extracellular or intracellular signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity or state as part of signal transduction.

2 GO annotations of biological process

Name	Definition
cell surface receptor signaling pathway	The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
immune response	Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P0C6B7	Igsf6	Immunoglobulin superfamily member 6	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MGTASRSNIA	RHLQTNLILF	CVGAVGACTL	SVTQPWYLEV	DYTHEAVTIK	CTFSATGCPS
70	80	90	100	110	120
EQPTCLWFRY	GAHQPENLCL	DGCKSEADKF	TVREALKENQ	VSLTVNRVTS	NDSAIYICGI
130	140	150	160	170	180
AFPSVPEARA	KQTGGGTTLV	VREIKLLSKE	LRSFLTALVS	LLSVYVTGVC	VAFILLSKSK
190	200	210	220	230	240
SNPLRNKEIK	EDSQKKKSAR	RIFQEIAQEL	YHKRHVETNQ	QSEKDNNTYE	NRRVLSNYER

P