AiPD: Autoinhibited Protein Database

P78410

Gene name	BTN3A2 (BT3.2, BTF3, BTF4)
Protein name	Butyrophilin subfamily 3 member A2
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:11118
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

250-322 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

250-322 (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 P78410

Entry ID	Method	Resolution	Chain	Position	Source
4F8Q	X-ray	238 A	A	30-239	PDB
AF-P78410-F1	Predicted				AlphaFoldDB

294 variants for P78410

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
TCGA novel	2	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs535121781 CA136273666	3	M>T		No	ClinGen Ensembl
CA136273667 rs547225553	4	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed
rs570507609 CA3671941	5	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs539682398 CA3671942	6	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs757449424 CA3671943	6	S>Y		No	ClinGen ExAC gnomAD
rs746420438 CA3671946	8	A>D		No	ClinGen ExAC gnomAD
CA3671945 rs746420438	8	A>G		No	ClinGen ExAC gnomAD
CA136273698 rs746420438	8	A>V		No	ClinGen ExAC gnomAD
CA3671947 rs780484548	12	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1402663719 CA363219794	13	N>D		No	ClinGen TOPMed
rs1269904577 CA363219801	14	F>I		No	ClinGen gnomAD
CA363219817 rs1422849601	16	V>I		No	ClinGen TOPMed
CA3671949 rs769004087	17	S>F		No	ClinGen ExAC TOPMed gnomAD
rs778277908 CA3671951	19	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1406269370 CA363219851	21	V>A		No	ClinGen gnomAD
CA3671954 rs759522232	26	P>L		No	ClinGen ExAC gnomAD
CA363219878 rs1349462265	26	P>T		No	ClinGen gnomAD
TCGA novel	28	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363219949 rs1187738748	35	G>R		No	ClinGen gnomAD
rs1456325093 CA363219957	36	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	37	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs972561260 CA136274037	38	G>W		No	ClinGen Ensembl
rs774421990 CA3671995	40	I>T		No	ClinGen ExAC gnomAD
rs767313554 CA3671997	42	A>T		No	ClinGen ExAC gnomAD
rs374368953 CA3671999	43	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3671998 rs773355659	43	M>V		No	ClinGen ExAC gnomAD
rs1343331647 CA363220003	44	V>M		No	ClinGen gnomAD
rs1290696331 CA363220009	45	G>D		No	ClinGen TOPMed gnomAD
rs1001462666 CA136274072	45	G>S		No	ClinGen TOPMed gnomAD
rs766402794 CA3672000	47	D>N		No	ClinGen ExAC gnomAD
rs1561798942 CA363220029	48	A>D		No	ClinGen Ensembl
CA3672001 rs753847600	48	A>T		No	ClinGen ExAC TOPMed gnomAD
CA363220032 rs372205582	49	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA3672002 rs372205582	49	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA363220074 rs1218649168	55	F>S		No	ClinGen gnomAD
rs758725669 CA3672006	56	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3672007 rs376536724	56	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs376536724 CA363220082	56	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3672009 rs755728551	57	T>N		No	ClinGen ExAC TOPMed gnomAD
rs755728551 CA136274120	57	T>S		No	ClinGen ExAC TOPMed gnomAD
CA363220098 rs1480582623	59	S>C		No	ClinGen gnomAD
CA3672010 rs779726695	60	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1402305144 CA363220110	61	E>*		No	ClinGen gnomAD
rs748868645 CA3672011	62	T>I		No	ClinGen ExAC gnomAD
CA3672013 rs779034411	63	M>I		No	ClinGen ExAC gnomAD
rs541411264 CA3672012	63	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA363220131 rs1301412314	64	E>*		No	ClinGen gnomAD
rs748095952 CA3672014	64	E>G		No	ClinGen ExAC gnomAD
rs748095952 CA363220132	64	E>V		No	ClinGen ExAC gnomAD
CA3672015 rs771787001	65	L>M		No	ClinGen ExAC TOPMed gnomAD
CA3672016 rs773020583	65	L>R		No	ClinGen ExAC gnomAD
CA363220144 rs1225920991	66	K>R		No	ClinGen TOPMed gnomAD
rs1287398774 CA363220152	67	W>*		No	ClinGen gnomAD
rs1219582805 TCGA novel CA363220168	69	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
CA3672018 rs771125071	70	S>F		No	ClinGen ExAC gnomAD
rs776820240 CA3672019	71	S>T		No	ClinGen ExAC gnomAD
TCGA novel	73	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs925023730 CA136274163	76	V>M		No	ClinGen Ensembl
rs1469926797 CA363220224	78	V>A		No	ClinGen TOPMed
CA3672024 rs145878031	78	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA363220231 rs1161729004	79	Y>F		No	ClinGen gnomAD
rs1367598172 CA363220234	80	A>T		No	ClinGen gnomAD
CA363220239 rs1406105805	80	A>V		No	ClinGen gnomAD
CA3672025 rs751895816	81	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA363220251 rs1353075235	82	G>A		No	ClinGen gnomAD
rs757552389 CA3672026	83	K>R		No	ClinGen ExAC gnomAD
CA3672027 rs779922999	84	E>K		No	ClinGen ExAC gnomAD
CA136274177 rs997671145	85	V>L		No	ClinGen Ensembl
rs578036874 CA136274183	86	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed
rs578036874 CA363220273	86	E>Q		No	ClinGen 1000Genomes TOPMed
rs1316531654 CA363220285	87	D>E		No	ClinGen gnomAD
rs543524891 CA363220283	87	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs543524891 CA3672029	87	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201827341 CA3672030	88	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs748068774 CA3672031 CA363220306	90	S>R		No	ClinGen ExAC TOPMed gnomAD
CA363220304 rs1194825007	90	S>T		No	ClinGen gnomAD
CA363220310 rs1250961169	91	A>E		No	ClinGen gnomAD
CA363220307 rs1208260539	91	A>T		No	ClinGen gnomAD
rs369213232 CA3672032	92	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA363220322 rs1242356195	93	Y>C		No	ClinGen gnomAD
CA363220327 rs1442694872	94	R>*		No	ClinGen TOPMed gnomAD
rs746878122 CA3672034	94	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3672035 rs770707141	97	T>P		No	ClinGen ExAC gnomAD
CA3672036 rs776878011	98	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA363220354 rs1411915031	99	I>V		No	ClinGen gnomAD
CA363220363 rs1380852542	100	L>P		No	ClinGen TOPMed
rs775506261 CA3672040	101	R>G		No	ClinGen ExAC TOPMed gnomAD
rs764723723 CA363220365	101	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3672041 COSM1076760 rs764723723	101	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs775506261 CA3672039	101	R>W		No	ClinGen ExAC TOPMed gnomAD
rs762282768 CA3672043	103	G>D		No	ClinGen ExAC TOPMed gnomAD
CA3672042 rs774720048	103	G>S		No	ClinGen ExAC gnomAD
rs1429374195 CA363220380	104	I>V		No	ClinGen TOPMed
CA136274243 rs1007957335	105	T>A		No	ClinGen TOPMed gnomAD
CA363220417 rs754639112	110	A>S		No	ClinGen ExAC gnomAD
CA3672046 rs754639112	110	A>T		No	ClinGen ExAC gnomAD
rs1341015922 CA363220423	111	L>V		No	ClinGen TOPMed gnomAD
CA3672048 rs752191656	112	R>*		No	ClinGen ExAC TOPMed gnomAD
CA3672049 rs757832428	112	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1212992505 CA363220437	113	I>M		No	ClinGen TOPMed
CA363220432 rs1459821825	113	I>V		No	ClinGen gnomAD
rs562706598 CA136274252	114	H>P		No	ClinGen 1000Genomes
CA363220447 rs1457126626	115	N>D		No	ClinGen gnomAD
COSM1076761 rs992030796 CA136274266 COSM1596202	116	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1227436083 CA363220465	118	A>P		No	ClinGen TOPMed
CA363220479 rs1356681175	120	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1371467936 CA363220476	120	D>N		No	ClinGen gnomAD
CA3672052 rs757089345	122	G>R		No	ClinGen ExAC gnomAD
TCGA novel	123	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs531494643 CA3672054	125	L>*		No	ClinGen 1000Genomes ExAC gnomAD
CA363220529 rs1468596937	127	Y>D		No	ClinGen TOPMed gnomAD
rs769933993 CA3672055	129	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs542187223 CA3672056	131	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	133	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3672057 rs749454929	134	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA363220595 rs1374860576	136	K>E		No	ClinGen TOPMed
CA136274289 rs1019757132	141	L>M		No	ClinGen TOPMed gnomAD
CA363220629 rs1321105724	141	L>P		No	ClinGen gnomAD
rs1019757132 CA363220627	141	L>V		No	ClinGen TOPMed gnomAD
CA363220647 rs1256422710	144	A>S		No	ClinGen gnomAD
rs1349855519 CA363220650	144	A>V		No	ClinGen gnomAD
CA363220673 rs1184069448	147	G>C		No	ClinGen TOPMed
CA363220672 rs1184069448	147	G>S		No	ClinGen TOPMed
CA363220681 rs1489918540	148	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3672072 COSM3697709 rs755902264 COSM3697710	149	N>D	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs749453475 CA3672074	152	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3672076 COSM1596201 COSM171372 rs774256825	153	E>K	Variant assessed as Somatic; 4.623e-05 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs774256825 CA3672077	153	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1162367505 CA363220715	154	V>M		No	ClinGen gnomAD
rs1241924995 CA363220725	155	K>R		No	ClinGen TOPMed
CA3672078 rs772651006	156	G>C		No	ClinGen ExAC gnomAD
CA363220731 rs1459062525	156	G>V		No	ClinGen gnomAD
CA3672079 rs773839701	157	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA136274909 rs773839701	157	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA3672082 rs771167658	158	E>K		No	ClinGen ExAC TOPMed gnomAD
rs775257006 CA3672083	160	G>R		No	ClinGen ExAC gnomAD
rs186780460 CA136274928	161	G>E		No	ClinGen 1000Genomes
rs1377536413 CA363220760	161	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs763688274 CA3672085	163	H>L		No	ClinGen ExAC TOPMed gnomAD
rs199674196 CA3672084	163	H>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA363220776 rs9379860	163	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201001724 CA3672088	165	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs750333427 CA363220791	166	C>G		No	ClinGen ExAC TOPMed gnomAD
CA3672089 rs750333427	166	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1240482813 CA363220797	167	R>G		No	ClinGen gnomAD
rs9379861 CA3672092	167	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs9379861 CA3672091 VAR_049833	167	R>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs370722939 CA3672093	168	S>C		No	ClinGen ESP ExAC gnomAD
rs994577754 CA136274975	169	T>A		No	ClinGen Ensembl
rs533719945 CA3672094	170	G>S		No	ClinGen ExAC TOPMed gnomAD
rs553460921 CA3672095	171	W>C		No	ClinGen 1000Genomes ExAC
rs778463883 CA136274983	172	Y>*		No	ClinGen ExAC gnomAD
CA136274979 rs1022540747	172	Y>C		No	ClinGen TOPMed gnomAD
CA3672096 rs772272361	172	Y>D		No	ClinGen ExAC gnomAD
rs747495149 CA3672098	173	P>L		No	ClinGen ExAC gnomAD
rs1206290163 CA363220830	173	P>S		No	ClinGen gnomAD
TCGA novel	174	Q>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771349722 CA3672099	174	Q>P		No	ClinGen ExAC gnomAD
TCGA novel	174	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1581548619 CA363220851	176	Q>P		No	ClinGen Ensembl
CA3672102 rs768133971	177	I>T		No	ClinGen ExAC gnomAD
TCGA novel	177	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1334633363 CA363220864	178	Q>*		No	ClinGen gnomAD
rs773990438 CA3672103	180	S>N		No	ClinGen ExAC gnomAD
CA3672104 VAR_026211 rs9358936	181	N>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs71544290 CA136275014	181	N>D		No	ClinGen Ensembl
CA363220891 rs9393711	181	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147417438 CA3672107	182	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
VAR_049834 CA3672106 rs12205731	182	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs766201604 CA3672108	184	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1458506669 CA363220910	185	E>K		No	ClinGen gnomAD
CA363220959 rs1220657079	192	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs754790974 CA3672110	192	A>V		No	ClinGen ExAC gnomAD
CA136275036 rs988901819	193	P>R		No	ClinGen TOPMed gnomAD
rs577843780 CA3672114	194	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1426293806 CA363220978	195	V>A		No	ClinGen gnomAD
CA363220974 rs1260509932	195	V>I		No	ClinGen gnomAD
CA136275046 rs945173230	196	A>E		No	ClinGen TOPMed
rs890343376 CA136275060	198	G>E		No	ClinGen gnomAD
rs1581549145 CA363221002	199	V>G		No	ClinGen Ensembl
CA363220999 rs1469128880	199	V>M		No	ClinGen gnomAD
CA363221009 rs1440911106	200	G>V		No	ClinGen TOPMed
CA136275066 rs868151118	201	L>P		No	ClinGen Ensembl
CA3672118 rs201661141	202	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	202	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781627758 CA3672119	203	E>A		No	ClinGen ExAC gnomAD
rs746274199 CA3672120	207	S>C		No	ClinGen ExAC gnomAD
CA3672121 rs770166336	209	I>V		No	ClinGen ExAC TOPMed gnomAD
VAR_049835 CA3672122 rs35183513	211	R>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA363221083 rs1261720377	212	G>V		No	ClinGen TOPMed gnomAD
CA3672124 rs771602294	213	G>S		No	ClinGen ExAC TOPMed gnomAD
rs144289111 CA3672126	215	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3672127 rs547467729	216	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	216	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363221103 rs1479935816	216	E>G		No	ClinGen gnomAD
rs1581549692 CA363221117	218	V>G		No	ClinGen Ensembl
rs972909264 CA136275156	218	V>I		No	ClinGen TOPMed gnomAD
rs776629062 CA3672128	220	C>*		No	ClinGen ExAC TOPMed gnomAD
CA3672129 rs759287621	221	I>N		No	ClinGen ExAC gnomAD
rs1272321939 CA363221133	221	I>V		No	ClinGen TOPMed
CA363221141 rs1221955354	222	I>T		No	ClinGen TOPMed
CA363221155 rs1344638975	224	N>S		No	ClinGen gnomAD
rs752985849 CA3672132	227	L>R		No	ClinGen ExAC gnomAD
rs373600244 CA3672133	228	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1223114438 CA363221195	231	K>E		No	ClinGen TOPMed
TCGA novel	231	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750127680 CA363221203	232	T>A		No	ClinGen ExAC TOPMed gnomAD
rs750127680 CA3672134	232	T>S		No	ClinGen ExAC TOPMed gnomAD
rs939020988 CA136275209	233	A>G		No	ClinGen TOPMed
rs1311603270 CA363221207	233	A>T		No	ClinGen TOPMed gnomAD
rs375636866 CA3672137	238	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs375636866 CA3672136	238	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3672138 rs746365187	238	A>V		No	ClinGen ExAC gnomAD
CA363221255 rs1581558809	239	D>A		No	ClinGen Ensembl
CA3672160 rs777332474	239	D>E		No	ClinGen ExAC gnomAD
rs142279595 CA3672162	240	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs566739896 CA3672161	240	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA363221267 rs1328600336	241	F>C		No	ClinGen gnomAD
CA3672164 rs745794122	242	F>C		No	ClinGen ExAC gnomAD
rs532046699 CA3672163	242	F>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel rs1481353241 CA363221282	243	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
CA3672166 rs368782404	244	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1650566 CA3672167 COSM595555 rs780468088	245	A>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3672168 rs780468088	245	A>T		No	ClinGen ExAC gnomAD
CA3672169 rs372417646	245	A>V		No	ClinGen ESP ExAC gnomAD
rs1485891251 CA363221302	247	P>T		No	ClinGen TOPMed
rs767499921 CA3672171	248	W>R		No	ClinGen ExAC gnomAD
CA3672172 rs568843545	250	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3672174 rs766940767	252	L>P		No	ClinGen ExAC gnomAD
rs755382991 CA3672176	254	G>A		No	ClinGen ExAC gnomAD
rs755382991 CA363221348	254	G>E		No	ClinGen ExAC gnomAD
rs779284406 CA3672177	257	P>S		No	ClinGen ExAC gnomAD
rs959875487 CA136276457	260	L>P		No	ClinGen TOPMed
rs745427991 CA3672182	264	A>T		No	ClinGen ExAC gnomAD
rs1381793971 CA363221403	264	A>V		No	ClinGen TOPMed
TCGA novel	265	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3672184 COSM3410850 rs780178954 COSM3410851	265	G>R	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3672185 rs749190080	266	A>V		No	ClinGen ExAC gnomAD
CA136276544 rs982086366	267	S>G		No	ClinGen Ensembl
CA3672186 rs568607568	269	F>S		No	ClinGen 1000Genomes ExAC gnomAD
CA3672188 rs761954790	271	W>*		No	ClinGen ExAC gnomAD
CA363221454 rs1340561675	272	R>K		No	ClinGen gnomAD
rs1358396821 CA363221464	273	Q>R		No	ClinGen TOPMed
CA363221468 rs1581559485	274	Q>*		No	ClinGen Ensembl
rs927970646 CA136276577	275	K>E		No	ClinGen Ensembl
rs772400538 CA3672190	279	A>S		No	ClinGen ExAC gnomAD
CA3672191 rs534380775	280	L>P		No	ClinGen 1000Genomes ExAC
rs1342031902 CA363221519	282	S>G		No	ClinGen TOPMed gnomAD
CA3672193 rs766426965	284	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1342779422 CA363221540	285	E>K		No	ClinGen gnomAD
CA363221554 rs1581559660	286	S>N		No	ClinGen Ensembl
rs1581559678 CA363221587	290	M>T		No	ClinGen Ensembl
CA3672194 rs754362000	293	M>I		No	ClinGen ExAC gnomAD
CA363221619 rs1280758347	294	G>E		No	ClinGen gnomAD
rs531941877 CA136276634	298	T>I		No	ClinGen TOPMed gnomAD
rs531941877 CA363221646	298	T>R		No	ClinGen TOPMed gnomAD
CA3672195 rs759993496	299	E>A		No	ClinGen ExAC gnomAD
CA363221654 rs146618645	300	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3672197 rs111392726	300	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3672196 rs146618645	300	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs947204049 CA136276668	301	E>G		No	ClinGen gnomAD
CA3672198 rs554201845	301	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA3672200 rs767266552	303	S>R		No	ClinGen ExAC TOPMed gnomAD
CA363221681 rs1308158086	304	L>R		No	ClinGen TOPMed
VAR_049836 CA3672242 rs13216828	307	S>N		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA363221719 rs1581561508	308	L>P		No	ClinGen Ensembl
rs1581561520 CA363221724	309	Q>*		No	ClinGen Ensembl
CA363221738 rs1265048713	311	E>K		No	ClinGen TOPMed gnomAD
rs766000909	312	L>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA363221748 rs1211989450	312	L>F		No	ClinGen gnomAD
rs1422599762 CA363221773	314	R>K		No	ClinGen TOPMed gnomAD
CA3672260 rs774800322	315	K>E		No	ClinGen ExAC TOPMed gnomAD
CA3672261 rs762255812	316	K>N		No	ClinGen ExAC gnomAD
CA3672262 rs766205182	319	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA363221808 rs1349155258	319	Y>D		No	ClinGen Ensembl
CA363221811 rs766205182	319	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs766205182 CA363221810	319	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA3672263 rs529878369	322	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529878369 CA3672264	322	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA363221827 rs529878369	322	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	324	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3672283 rs144958425	325	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs542217150 CA363221904	327	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3672284 rs542217150	327	S>W		No	ClinGen ExAC TOPMed gnomAD
COSM184122 CA3672287 rs376441641	329	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA gnomAD
CA3672288 rs751467291	331	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA363221943 rs1234742503	333	S>L		No	ClinGen TOPMed gnomAD
rs780914370 CA363221948	334	A>D		No	ClinGen ExAC TOPMed gnomAD
rs780914370 CA363221949	334	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1433761506 CA363221947	334	A>P		No	ClinGen TOPMed gnomAD
rs1433761506 CA363221945	334	A>T		No	ClinGen TOPMed gnomAD
rs780914370 CA3672290	334	A>V		No	ClinGen ExAC TOPMed gnomAD
CA363221952 rs1302783699	335	A>G		No	ClinGen TOPMed

No associated diseases with P78410

1 regional properties for P78410

Type	Name	Position	InterPro Accession
domain	NAC domain	9 - 159	IPR003441

Functions

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

4 GO annotations of cellular component

Name	Definition
external side of plasma membrane	The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 GO annotations of molecular function

Name	Definition
signaling receptor binding	Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

4 GO annotations of biological process

Name	Definition
positive regulation of interferon-gamma production	Any process that activates or increases the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon.
regulation of cytokine production	Any process that modulates the frequency, rate, or extent of production of a cytokine.
T cell mediated immunity	Any process involved in the carrying out of an immune response by a T cell.
T cell receptor signaling pathway	The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O00481	BTN3A1	Butyrophilin subfamily 3 member A1	Homo sapiens (Human)	PR
A8MVZ5	BTNL10P	Putative butyrophilin-like protein 10 pseudogene	Homo sapiens (Human)	PR

10	20	30	40	50	60
MKMASSLAFL	LLNFHVSLLL	VQLLTPCSAQ	FSVLGPSGPI	LAMVGEDADL	PCHLFPTMSA
70	80	90	100	110	120
ETMELKWVSS	SLRQVVNVYA	DGKEVEDRQS	APYRGRTSIL	RDGITAGKAA	LRIHNVTASD
130	140	150	160	170	180
SGKYLCYFQD	GDFYEKALVE	LKVAALGSNL	HVEVKGYEDG	GIHLECRSTG	WYPQPQIQWS
190	200	210	220	230	240
NAKGENIPAV	EAPVVADGVG	LYEVAASVIM	RGGSGEGVSC	IIRNSLLGLE	KTASISIADP
250	260	270	280	290	300
FFRSAQPWIA	ALAGTLPILL	LLLAGASYFL	WRQQKEITAL	SSEIESEQEM	KEMGYAATER
310	320	330
EISLRESLQE	ELKRKKIQYL	TRGEESSSDT	NKSA