AiPD: Autoinhibited Protein Database

P06340

Gene name	HLA-DOA (HLA-DNA, HLA-DZA)
Protein name	HLA class II histocompatibility antigen, DO alpha chain
Names	T-cell differentiation antigen L3T4, T-cell surface antigen T4/Leu-3, MHC DN-alpha, MHC DZ alpha, MHC class II antigen DOA
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3111
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

79-150 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

79-150 (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

2 structures for P06340

Entry ID	Method	Resolution	Chain	Position	Source
4I0P	X-ray	320 A	C/G	27-207	PDB
AF-P06340-F1	Predicted				AlphaFoldDB

251 variants for P06340

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA3749188 rs750371793	2	A>D		No	ExAC gnomAD ClinGen
rs756060434 CA3749189	2	A>T		No	ExAC gnomAD ClinGen
rs750371793 CA363598796	2	A>V		No	ExAC gnomAD ClinGen
rs1429625287 CA363598792	3	L>F		No	TOPMed ClinGen
CA363598789 rs1170605232	3	L>P		No	ClinGen TOPMed
CA363598785 rs1204410678	4	R>*		No	gnomAD ClinGen
rs951147556 CA137025328	5	A>E		No	Ensembl ClinGen
rs144931749 CA3749187	6	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1216045626 CA363598748	8	V>I		No	ClinGen gnomAD
CA137025322 rs959129232	9	L>V		No	TOPMed gnomAD ClinGen
rs751367079 CA3749185	13	T>N		No	ExAC TOPMed gnomAD ClinGen
CA137025286 rs973942479	14	L>M		No	gnomAD ClinGen
rs1336764914 CA363598667	17	L>P		No	gnomAD ClinGen
CA363598654 rs1364079278	19	S>G		No	TOPMed ClinGen
rs762623690 CA3749183	19	S>N		No	ExAC TOPMed gnomAD ClinGen
CA137025257 rs552404381	20	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
CA363598597 rs1562015075	23	A>S		No	Ensembl ClinGen
rs1412192242 CA363598579	24	G>V		No	gnomAD ClinGen
rs1168523284 CA363598571	25	A>D		No	TOPMed gnomAD ClinGen
CA363598567 rs1168523284	25	A>V		No	TOPMed gnomAD ClinGen
rs1004498914 CA137025219	27	K>R		No	TOPMed ClinGen
CA3749163 rs764790863	28	A>G		No	ExAC gnomAD ClinGen
CA137024453 rs41560118	29	D>A		No	Ensembl ClinGen
CA137024466 rs41546615	29	D>N		No	Ensembl ClinGen
CA137024433 rs41553215	30	H>Q		No	Ensembl ClinGen
CA137024430 rs41559715	31	M>L		No	ClinGen ExAC gnomAD
CA3749161 rs41559715	31	M>V		No	ClinGen ExAC gnomAD
CA137024418 rs916016859	32	G>D		No	gnomAD ClinGen
CA363597921 rs916016859	32	G>V		No	gnomAD ClinGen
CA137024408 rs41557515	33	S>F		No	Ensembl ClinGen
CA3749160 rs771526168	33	S>P		No	ExAC gnomAD ClinGen
rs761289072 CA3749159	35	G>R		No	ExAC gnomAD ClinGen
rs41551814 CA137024368	36	P>S		No	Ensembl ClinGen
CA3749156 rs748401096	37	A>S		No	ExAC ClinGen
rs1487275494 CA363597809	39	Y>*		No	TOPMed gnomAD ClinGen
CA363597802 rs1445756200	40	Q>E		No	ClinGen TOPMed gnomAD
CA363597793 rs768932742	40	Q>H		No	ExAC ClinGen
rs1562013221 CA363597763	42	Y>*		No	Ensembl ClinGen
CA3749152 rs139861642	43	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA363597745 rs1315797390	44	A>P		No	TOPMed gnomAD ClinGen
CA363597744 rs1315797390	44	A>S		No	TOPMed gnomAD ClinGen
CA363597721 rs371630344	45	S>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA3749150 rs371630344	45	S>W		No	ESP ExAC TOPMed gnomAD ClinGen
CA3749147 rs746996524	46	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs145654970 CA3749145	47	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1386596120 CA363597679	48	F>L		No	gnomAD ClinGen
rs752551179 CA3749144	48	F>S		No	ExAC gnomAD ClinGen
CA363597660 rs1290873028	49	T>A		No	TOPMed gnomAD ClinGen
CA363597653 rs1222480912	49	T>I		No	TOPMed ClinGen
CA363597663 rs1290873028	49	T>P		No	TOPMed gnomAD ClinGen
rs1309599060 CA363597641	50	H>N		No	TOPMed ClinGen
CA3749142 rs754692784	51	E>Q		No	ExAC gnomAD ClinGen
rs1318051685 CA363597566	54	E>*		No	ClinGen TOPMed
TCGA novel	54	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1016568174 CA137024308	55	E>G		No	TOPMed ClinGen
CA3749140 rs140147098	55	E>K		No	ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	56	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3749137 rs534860530	59	S>F		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA363597459 rs1431241714	60	V>A		No	gnomAD ClinGen
rs1431241714 CA363597456	60	V>G		No	gnomAD ClinGen
rs1421463312 CA363597441	61	D>A		No	gnomAD ClinGen
rs762022001 CA3749136	63	K>E		No	ExAC TOPMed gnomAD ClinGen
rs774778791 CA3749135	64	K>E		No	ExAC gnomAD ClinGen
rs570603984 CA363597384	65	S>N		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs570603984 CA3749134	65	S>T		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA3749132 rs775524731	67	A>T		No	ExAC gnomAD ClinGen
CA363597344 CA363597342 rs913428613	68	V>L		No	TOPMed gnomAD ClinGen
CA137024287 rs913428613	68	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA3749131 rs769901665	69	W>*		No	ExAC gnomAD ClinGen
CA3749130 rs558613244	70	R>C		No	1000Genomes ExAC gnomAD ClinGen
CA363597316 rs558613244	70	R>G		No	1000Genomes ExAC gnomAD ClinGen
rs777629834 CA137024273	70	R>H		No	ExAC TOPMed gnomAD ClinGen
rs777629834 CA3749129	70	R>P		No	ExAC TOPMed gnomAD ClinGen
CA363597275 rs1215355028	73	E>D		No	gnomAD ClinGen
CA3749127 rs747859648	75	G>A		No	ExAC gnomAD ClinGen
CA3749128 rs747859648	75	G>D		No	ExAC gnomAD ClinGen
CA137024255 rs113821268	76	D>H		No	ExAC TOPMed gnomAD ClinGen
CA3749125 rs113821268	76	D>N		No	ExAC TOPMed gnomAD ClinGen
CA137024253 rs113821268	76	D>Y		No	ExAC TOPMed gnomAD ClinGen
rs1406650178 CA363597204	78	A>D		No	gnomAD ClinGen
CA3749124 rs753588133	79	R>C		No	ExAC TOPMed gnomAD ClinGen
rs148303384 CA3749123	79	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs148303384 CA363597194	79	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1356029019 CA363597164	82	P>R		No	gnomAD ClinGen
rs749962252 CA3749121	83	Q>*		No	ExAC gnomAD ClinGen
CA137024246 CA137024243 rs112121360	85	G>R	Variant assessed as Somatic; 4.633e-05 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA363597121 rs1234669182	87	A>T		No	ClinGen TOPMed
CA363597099 rs1253392734	88	G>D		No	gnomAD ClinGen
rs774527905 CA3749118	88	G>R		No	ExAC gnomAD ClinGen
rs774527905 CA363597104	88	G>S		No	ExAC gnomAD ClinGen
CA363597072 rs1436879560	89	I>M		No	TOPMed ClinGen
CA137024186 rs200672081	90	A>D		No	Ensembl ClinGen
CA137024201 rs915943308	90	A>S		No	TOPMed gnomAD ClinGen
CA363597068 COSM1443707 rs915943308	90	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs775755647 CA3749115	91	A>S		No	ExAC gnomAD ClinGen
CA3749114 rs745559850	92	I>M		No	ExAC TOPMed gnomAD ClinGen
rs745881676 CA3749113	99	L>P		No	ExAC TOPMed gnomAD ClinGen
VAR_058126 rs41542323 CA137024178	99	L>V	allele DOA*01:03 [UniProt]	No	ClinGen UniProt dbSNP gnomAD
CA3749112 rs776724070	100	V>L		No	ClinGen ExAC gnomAD
CA3749111 rs771856453 COSM1443706	102	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA363596836 rs1428874111	103	S>F		No	gnomAD ClinGen
VAR_058127 rs11575906 CA3749110	105	R>C	allele DOA*01:02 [UniProt]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen UniProt dbSNP
CA3749109 rs778543005	105	R>H		No	ExAC gnomAD ClinGen
CA3749108 rs768565207	107	R>S		No	ExAC gnomAD ClinGen
CA363596759 rs1367348721	108	A>S		No	TOPMed gnomAD ClinGen
CA363596758 rs1367348721	108	A>T		No	TOPMed gnomAD ClinGen
CA363596732 rs1422537351	109	I>N		No	gnomAD ClinGen
CA363596736 rs1184847398	109	I>V		No	gnomAD ClinGen
rs1408449655 CA363596718	110	N>H		No	TOPMed ClinGen
rs749019893 CA3749090	111	V>E		No	ExAC gnomAD ClinGen
CA3749106 rs779800114	111	V>L		No	ExAC gnomAD ClinGen
TCGA novel	112	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1227679680 CA363596615	112	P>L		No	gnomAD ClinGen
rs780022984 CA3749089	113	P>T		No	ExAC TOPMed gnomAD ClinGen
CA3749087 rs745562325 COSM1077936	114	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs568100120 CA3749088	114	R>W		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA363596572 rs1183320199	115	V>L		No	ClinGen TOPMed
CA3749085 rs756857005	117	V>M		No	ExAC gnomAD ClinGen
rs10947368 CA363596481	120	K>N		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	120	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs942164384 CA137023891	120	K>R		No	gnomAD ClinGen
CA3749082 rs758936494	122	R>Q		No	ExAC gnomAD ClinGen
rs778285551 CA3749083	122	R>W		No	ExAC TOPMed gnomAD ClinGen
CA137023885 rs923542191	123	V>M		No	Ensembl ClinGen
CA363596429 rs1246476416	124	E>*		No	TOPMed gnomAD ClinGen
rs1246476416 CA363596425	124	E>Q		No	TOPMed gnomAD ClinGen
CA137023884 rs892051226	126	G>C		No	TOPMed ClinGen
rs759725740 CA3749080 CA3749079	127	Q>H		No	ExAC TOPMed gnomAD ClinGen
CA3749077 rs766359854	128	P>L		No	ClinGen ExAC gnomAD
CA3749078 rs548370082	128	P>T		No	ExAC gnomAD ClinGen
rs570807005 CA3749076	129	N>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA3749075 rs773173373	133	C>*		No	ExAC gnomAD ClinGen
rs1412795434 CA363596339	134	I>N		No	TOPMed ClinGen
CA3749074 rs565438950	135	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA137023864 rs938926238	137	N>I		No	TOPMed ClinGen
rs1344023866 CA363596303	138	I>M		No	gnomAD ClinGen
rs1562011675 CA363596304	138	I>T		No	Ensembl ClinGen
rs34987694 CA3749073	139	F>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs34987694 CA3749072	139	F>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs531000118 CA3749070	139	F>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA137023861 rs977572383	139	F>S		No	Ensembl ClinGen
rs746487868 CA3749067	141	P>A		No	ExAC TOPMed gnomAD ClinGen
rs115076830 CA3749066	141	P>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs764712484	141	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	141	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746487868 CA3749068	141	P>T		No	ExAC TOPMed gnomAD ClinGen
CA137023844 rs867085204	144	N>H		No	Ensembl ClinGen
CA363596259 rs1336705862	145	I>N		No	gnomAD ClinGen
CA3749064 rs758881602	146	T>N		No	ExAC gnomAD ClinGen
CA3749062 rs779247809	147	W>*		No	ExAC TOPMed gnomAD ClinGen
rs779247809 CA363596244	147	W>C		No	ExAC TOPMed gnomAD ClinGen
rs200187983 CA3749060	149	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs766561147 CA3749059	149	R>H		No	ExAC TOPMed gnomAD ClinGen
rs1374574072 CA363596233	150	N>H		No	TOPMed ClinGen
CA3749056 rs767752263	151	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3749057 rs767752263	151	G>S		No	ExAC TOPMed gnomAD ClinGen
CA363596208 rs1446942433	153	T>I		No	gnomAD ClinGen
CA363596205 rs1441817393	154	V>F		No	gnomAD ClinGen
rs762950552 CA363596198	155	T>I		No	ExAC TOPMed gnomAD ClinGen
rs762950552 CA3749054	155	T>S		No	ExAC TOPMed gnomAD ClinGen
rs1197370329 CA363596199	155	T>S		No	gnomAD ClinGen
CA363596194 rs1381779683	156	E>K		No	ClinGen TOPMed
rs762639793 CA3749053	157	G>R		No	ExAC gnomAD ClinGen
CA3749052 rs765110396	160	Q>*		No	ExAC gnomAD ClinGen
CA3749051 rs759316131	160	Q>R		No	ClinGen ExAC gnomAD
CA137023791 rs950656011	161	T>I		No	TOPMed ClinGen
rs772724050 CA363596160	162	S>G		No	TOPMed gnomAD ClinGen
rs772724050 CA137023786	162	S>R		No	TOPMed gnomAD ClinGen
CA363596149 rs1332568375	163	F>S		No	gnomAD ClinGen
rs1303154418 CA363596144	164	Y>H		No	TOPMed ClinGen
rs770569065 CA3749049	165	S>F		No	ExAC gnomAD ClinGen
CA137023784 rs894375414	165	S>P		No	Ensembl ClinGen
rs1168190520 CA363596120	167	P>L		No	gnomAD ClinGen
rs1582984140 CA363596119	168	D>N		No	Ensembl ClinGen
rs746690930 CA3749048	169	H>Y		No	ExAC gnomAD ClinGen
rs771639137 CA3749046	172	R>C		No	ExAC TOPMed gnomAD ClinGen
rs748642845 CA3749045	172	R>H		No	ExAC TOPMed gnomAD ClinGen
CA137023769 rs529749974	175	H>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529749974 CA3749043	175	H>R		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA363596067 rs1183646898	175	H>Y		No	gnomAD ClinGen
CA363596058 rs1202553077	176	Y>*		No	gnomAD ClinGen
rs749621038 CA3749042	176	Y>H		No	ExAC TOPMed gnomAD ClinGen
CA363596050 rs1361221366	178	P>A		No	gnomAD ClinGen
TCGA novel	178	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	180	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3749039 rs142562508	180	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1437270565 CA363596018	183	A>S		No	gnomAD ClinGen
CA3749036 rs751704358	184	E>K		No	ClinGen ExAC gnomAD
CA3749035 rs765200524	185	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs766126839 CA3749032	186	V>A		No	ExAC gnomAD ClinGen
CA3749033 rs556666189	186	V>I		No	ExAC gnomAD ClinGen
rs772905963 CA3749030	187	Y>C		No	ExAC TOPMed gnomAD ClinGen
rs145505686 CA3749031	187	Y>H		No	ESP ExAC TOPMed gnomAD ClinGen
CA137023718 rs1007109357	188	D>G		No	TOPMed gnomAD ClinGen
CA363595990 rs1452881143	188	D>N		No	ClinGen TOPMed
CA363595982 rs371290909	189	C>G		No	ESP TOPMed ClinGen
rs371290909 CA137023713	189	C>R		No	ESP TOPMed ClinGen
CA363595966 rs1472901316	191	V>L		No	ClinGen gnomAD
CA3749028 rs761242552	193	H>N		No	ExAC TOPMed gnomAD ClinGen
CA363595951 rs1369038823	193	H>R		No	TOPMed ClinGen
COSM3410995 rs761242552 CA363595953	193	H>Y	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs1246934744 CA363595942	194	W>*		No	gnomAD ClinGen
CA3749027 rs773877974	194	W>*		No	ExAC gnomAD ClinGen
rs1302336485 CA363595947	194	W>R		No	TOPMed ClinGen
CA137023697 rs887880517	195	G>C		No	Ensembl ClinGen
rs1316858642 CA363595931	196	L>P		No	TOPMed ClinGen
rs1449369692 CA363595923	197	D>E		No	gnomAD ClinGen
CA363595921 rs1285790804	198	A>T		No	TOPMed gnomAD ClinGen
rs769161861 CA3749026 COSM244919	198	A>V	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA363595903 rs1288070094	201	L>I		No	ClinGen gnomAD
rs780437826 CA3749024	201	L>P		No	ExAC gnomAD ClinGen
CA363595896 rs1369929380	202	R>K		No	TOPMed gnomAD ClinGen
rs1348172157 CA363595879	204	W>*		No	ClinGen gnomAD
rs770125285 CA3749023	204	W>R		No	ExAC gnomAD ClinGen
CA3748997 rs758464349	207	Q>H		No	ExAC gnomAD ClinGen
rs370973797 CA3748998	207	Q>L		No	ESP ExAC gnomAD ClinGen
rs147947959 CA3748996	209	P>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA3748995 rs779785221	210	I>V		No	ExAC gnomAD ClinGen
CA363595821 rs1188578062	212	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs1223244743 CA363595810	213	P>L		No	TOPMed ClinGen
CA3748994 rs144962928	214	D>N		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA3748993 rs750165856	215	A>S		No	ExAC gnomAD ClinGen
CA363595782 rs1175256057	217	E>D		No	TOPMed ClinGen
rs767353401 CA363595780	218	T>A		No	ExAC gnomAD ClinGen
rs761427772 CA3748991	218	T>N		No	ExAC TOPMed gnomAD ClinGen
rs767353401 CA3748992	218	T>S		No	ExAC gnomAD ClinGen
CA137023491 rs924233026	221	C>F		No	Ensembl ClinGen
rs1469795077 CA363595751	223	L>V		No	ClinGen gnomAD
CA137023487 rs867557559	226	A>T		No	Ensembl ClinGen
TCGA novel	227	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs536160384 CA3748987	228	G>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA363595713 rs1397659492	230	V>L		No	gnomAD ClinGen
rs141887419 CA3748985	231	G>V		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1414639898 CA363595693	233	L>F		No	ClinGen TOPMed
rs200140467 CA363595688	234	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs200140467 COSM3994874 CA3748983	234	V>M	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs1168834668 CA363595679	235	G>A		No	gnomAD ClinGen
rs1168834668 CA363595680	235	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3748981 rs114742371	237	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs748134166 CA3748979	239	I>V		No	ExAC gnomAD ClinGen
CA363595650 rs1484890260	240	I>M		No	gnomAD ClinGen
rs779068714 CA363595651	240	I>S		No	ExAC TOPMed gnomAD ClinGen
rs779068714 CA3748978	240	I>T		No	ExAC TOPMed gnomAD ClinGen
rs142612904 CA3748977	241	M>I		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1254462741 CA363595645	241	M>T		No	TOPMed gnomAD ClinGen
CA363595632 rs1341746094	243	T>K		No	gnomAD ClinGen
CA3748976 rs745850884	245	V>M		No	ExAC TOPMed ClinGen
rs1473844353 CA363595612	246	S>C		No	TOPMed ClinGen
rs1247088396 CA363595609	247	S>G		No	gnomAD ClinGen
rs753401888 CA137023247	250	R>S		No	ExAC gnomAD ClinGen
CA3748974 rs780965270	250	R>T		No	ExAC gnomAD ClinGen

No associated diseases with P06340

4 regional properties for P06340

Type	Name	Position	InterPro Accession
domain	MHC class II, alpha chain, N-terminal	29 - 110	IPR001003
conserved_site	Immunoglobulin/major histocompatibility complex, conserved site	187 - 193	IPR003006
domain	Immunoglobulin C1-set	115 - 199	IPR003597
domain	Immunoglobulin-like domain	113 - 193	IPR007110

Functions

		Description
EC Number
Subcellular Localization	Endosome membrane; Single-pass type I membrane protein Lysosome membrane; Single-pass type I membrane protein	Complexes with HLA-DM molecule during intracellular transport and in endosomal/lysosomal compartments Heterotetramerization is necessary to exit the ER
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
endosome membrane	The lipid bilayer surrounding an endosome.
integral component of membrane	The component of a 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.
lysosomal membrane	The lipid bilayer surrounding the lysosome and separating its contents from the cell cytoplasm.
MHC class II protein complex	A transmembrane protein complex composed of an MHC class II alpha and MHC class II beta chain, and with or without a bound peptide or polysaccharide antigen.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name	Definition
MHC class II protein complex binding	Binding to a class II major histocompatibility complex.
MHC class II receptor activity	Combining with an MHC class II protein complex and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.

6 GO annotations of biological process

Name	Definition
adaptive immune response	An immune response mediated by cells expressing specific receptors for antigen produced through a somatic diversification process, and allowing for an enhanced secondary response to subsequent exposures to the same antigen (immunological memory).
antigen processing and presentation of exogenous peptide antigen via MHC class II	The process in which an antigen-presenting cell expresses a peptide antigen of exogenous origin on its cell surface in association with an MHC class II protein complex. The peptide antigen is typically, but not always, processed from a whole protein.
negative regulation of antigen processing and presentation of peptide antigen via MHC class II	Any process that stops, prevents, or reduces the frequency, rate, or extent of antigen processing and presentation of peptide antigen via MHC class II.
peptide antigen assembly with MHC class II protein complex	The binding of a peptide to the antigen binding groove of an MHC class II protein complex.
positive regulation of T cell activation	Any process that activates or increases the frequency, rate or extent of T cell activation.
regulation of T cell differentiation	Any process that modulates the frequency, rate or extent of T cell differentiation.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MALRAGLVLG	FHTLMTLLSP	QEAGATKADH	MGSYGPAFYQ	SYGASGQFTH	EFDEEQLFSV
70	80	90	100	110	120
DLKKSEAVWR	LPEFGDFARF	DPQGGLAGIA	AIKAHLDILV	ERSNRSRAIN	VPPRVTVLPK
130	140	150	160	170	180
SRVELGQPNI	LICIVDNIFP	PVINITWLRN	GQTVTEGVAQ	TSFYSQPDHL	FRKFHYLPFV
190	200	210	220	230	240
PSAEDVYDCQ	VEHWGLDAPL	LRHWELQVPI	PPPDAMETLV	CALGLAIGLV	GFLVGTVLII

MGTYVSSVPR