AiPD: Autoinhibited Protein Database

P12318

Gene name	FCGR2A (CD32, FCG2, FCGR2A1, IGFR2)
Protein name	Low affinity immunoglobulin gamma Fc region receptor II-a
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:2212
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

36-317 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

36-317 (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

7 structures for P12318

Entry ID	Method	Resolution	Chain	Position	Source
1FCG	X-ray	200 A	A	34-207	PDB
1H9V	X-ray	300 A	A	37-208	PDB
3D5O	X-ray	280 A	F	37-207	PDB
3RY4	X-ray	150 A	A	37-206	PDB
3RY5	X-ray	230 A	A	37-206	PDB
3RY6	X-ray	380 A	C	40-206	PDB
AF-P12318-F1	Predicted				AlphaFoldDB

269 variants for P12318

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA124361 rs1801274 VAR_003955 RCV000015946 RCV000015947 RCV000054529 RCV000454909	167	H>R	Lupus nephritis, susceptibility to Malaria, severe, susceptibility to Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis may be associated with susceptibility to lupus nephritis; does not efficiently recognize IgG2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs908507298 CA31677172	2	T>I		No	ClinGen TOPMed
rs908507298 CA343341766	2	T>S		No	ClinGen TOPMed
CA343341788 rs1448440069	3	M>R		No	ClinGen gnomAD
CA1210479 rs749170200	5	T>I		No	ClinGen ExAC TOPMed gnomAD
CA343341893 rs1221283732	8	S>A		No	ClinGen TOPMed gnomAD
CA343341885 rs1221283732	8	S>P		No	ClinGen TOPMed gnomAD
CA31677202 rs141594049	10	N>K		No	ClinGen 1000Genomes TOPMed gnomAD
CA1210481 rs376631122	10	N>S		No	ClinGen ESP ExAC gnomAD
TCGA novel	12	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs557302212 CA1210484	14	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748659003 CA1210485	17	W>*		No	ClinGen ExAC TOPMed gnomAD
CA1210487 rs773437367	19	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1571954999 CA343342112	19	L>V		No	ClinGen Ensembl
rs763426893 CA1210488	20	Q>*		No	ClinGen ExAC gnomAD
rs766483279 CA343342150	21	P>A		No	ClinGen ExAC gnomAD
rs774749129 CA343342157	21	P>L		No	ClinGen ExAC gnomAD
rs774749129 CA1210490	21	P>Q		No	ClinGen ExAC gnomAD
CA1210489 rs766483279	21	P>S		No	ClinGen ExAC gnomAD
rs759636337 CA1210491	23	T>S		No	ClinGen ExAC TOPMed gnomAD
rs921495802 CA31677254	24	V>A		No	ClinGen Ensembl
rs573934607 CA1210492	24	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA1210493 rs752613385	25	L>F		No	ClinGen ExAC gnomAD
CA343342253 rs1571955156	26	L>P		No	ClinGen Ensembl
CA343342270 rs1268950786	28	L>V		No	ClinGen gnomAD
rs1557827367 CA343342491	32	D>E		No	ClinGen Ensembl
CA343342496 rs1398947340	33	S>G		No	ClinGen TOPMed gnomAD
CA343342528 rs1474113030	35	A>T		No	ClinGen TOPMed gnomAD
CA343342707 rs1219210638	37	A>P		No	ClinGen gnomAD
CA343342702 rs1219210638	37	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs779609704 CA1210544	38	P>L		No	ClinGen ExAC TOPMed gnomAD
rs757823694 CA1210543	38	P>S		No	ClinGen ExAC gnomAD
CA1210545 rs746201328	39	P>Q		No	ClinGen ExAC gnomAD
rs746201328 CA343342753	39	P>R		No	ClinGen ExAC gnomAD
TCGA novel	39	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1034245666 CA31677914	40	K>N		No	ClinGen TOPMed
rs772595513 CA1210546	41	A>S		No	ClinGen ExAC gnomAD
rs1345707956 CA343342862	44	K>*		No	ClinGen gnomAD
CA1210547 rs764294646	45	L>F		No	ClinGen ExAC gnomAD
rs768827287 CA1210549	46	E>*		No	ClinGen ExAC TOPMed gnomAD
rs377489184 CA1210551	46	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA1210550 rs768827287	46	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1045670796 CA31677922	47	P>H		No	ClinGen TOPMed gnomAD
TCGA novel	47	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1210552 rs769689777	47	P>S		No	ClinGen ExAC TOPMed gnomAD
rs201954965 CA1210554	48	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1210553 rs201954965	48	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA31677932 rs370320754	49	W>*		No	ClinGen ESP TOPMed
rs773805217 CA1210556	51	N>S		No	ClinGen ExAC gnomAD
CA31677941 rs373577467	52	V>M		No	ClinGen TOPMed
CA343343179 rs1401358458	56	D>Y		No	ClinGen gnomAD
CA31677946 rs978282912	58	V>M		No	ClinGen TOPMed
rs9427397 RCV000455363 CA1210558	63	Q>*		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_054857 CA1210559 RCV000456029 rs9427398	63	Q>R		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs201218628 CA31677947	63	Q>W		No	ClinGen Ensembl
rs201099382 CA31677957	65	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1210561 rs201099382	65	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA343343376 rs1257003455	66	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM269161 rs750989159 CA1210562	66	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs139832997 CA1210565	68	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1192235116 CA343343401	70	S>G		No	ClinGen gnomAD
CA31677979 rs148868087	70	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755206987 CA1210566	70	S>T		No	ClinGen ExAC gnomAD
rs1557828187 CA343343412	71	D>E		No	ClinGen Ensembl
CA343343408 rs1193462464	71	D>N		No	ClinGen gnomAD
CA1210568 rs373917327	72	S>F		No	ClinGen ESP ExAC gnomAD
rs769887593 CA1210569	73	I>V		No	ClinGen ExAC gnomAD
CA31677984 rs867685604	74	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs773080023 CA1210570	74	Q>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA343343495 rs774178884	78	N>K		No	ClinGen ExAC gnomAD
CA1210572 rs199851518	78	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1210575 rs767164374	81	L>I		No	ClinGen ExAC gnomAD
rs775034712 CA1210577	83	P>A		No	ClinGen ExAC TOPMed gnomAD
CA1210578 rs760212992	84	T>I		No	ClinGen ExAC gnomAD
rs750893897 CA1210580	85	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA1210581 rs202091810	86	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202091810 CA343343586	86	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA343343589 rs1464388370	87	Q>*		No	ClinGen TOPMed
rs751922399 CA1210583	91	R>S		No	ClinGen ExAC TOPMed gnomAD
rs755330838 CA1210584	93	K>N		No	ClinGen ExAC gnomAD
rs1216522269 CA343343695	94	A>V		No	ClinGen TOPMed gnomAD
rs748385327 CA1210587	97	N>K		No	ClinGen ExAC TOPMed gnomAD
CA1210589 rs777821795	98	D>E		No	ClinGen ExAC gnomAD
rs756123343 CA1210588	98	D>N		No	ClinGen ExAC gnomAD
rs745633548 CA1210593	100	G>E		No	ClinGen ExAC gnomAD
rs778753393 CA1210592	100	G>R		No	ClinGen ExAC TOPMed gnomAD
CA343343815 rs967337251	101	E>*		No	ClinGen gnomAD
CA31678063 rs967337251	101	E>K		No	ClinGen gnomAD
CA1210594 rs368359610	103	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA343343863 rs368359610	103	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1378057513 CA343343915	107	G>S		No	ClinGen gnomAD
rs112258422 CA31678067	109	T>A		No	ClinGen Ensembl
CA1210596 rs760407555	109	T>I		No	ClinGen ExAC TOPMed gnomAD
rs112258422 CA343343945	109	T>P		No	ClinGen Ensembl
rs768480798 CA1210598	111	L>F		No	ClinGen ExAC gnomAD
rs768480798 CA1210597	111	L>V		No	ClinGen ExAC gnomAD
TCGA novel	112	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1239990850 CA343344046	113	D>H		No	ClinGen TOPMed gnomAD
CA343344042 rs1239990850	113	D>N		No	ClinGen TOPMed gnomAD
CA31678090 rs372790116	114	P>L		No	ClinGen ExAC gnomAD
CA1210600 rs372790116	114	P>R		No	ClinGen ExAC gnomAD
rs761450741 CA1210599	114	P>S		No	ClinGen ExAC
rs1571958489 CA343344081	115	V>M		No	ClinGen Ensembl
rs1557828583 CA343344118	116	H>P		No	ClinGen Ensembl
rs1209236805 CA343344129	116	H>Q		No	ClinGen gnomAD
CA31678101 rs112779291	117	L>P		No	ClinGen Ensembl
rs146641538 CA1210603	122	E>K		No	ClinGen ESP ExAC gnomAD
rs199737051 CA1210631	125	V>G		No	ClinGen ExAC gnomAD
CA343346162 rs1478219190	126	L>V		No	ClinGen gnomAD
rs754843836 CA1210632	127	Q>E		No	ClinGen ExAC gnomAD
CA343346181 rs1421015050	127	Q>R		No	ClinGen gnomAD
rs780937135 CA1210633	128	T>N		No	ClinGen ExAC gnomAD
rs747763665 CA1210634	129	P>L		No	ClinGen ExAC TOPMed gnomAD
CA343346327 rs1571966659	130	H>P		No	ClinGen Ensembl
rs1401781924 CA343346383	131	L>P		No	ClinGen gnomAD
CA343346568 rs1274205329	135	E>D		No	ClinGen TOPMed
TCGA novel	136	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	138	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1284656626 CA343346669	139	I>M		No	ClinGen gnomAD
CA1210638 rs4986941 VAR_054858	140	M>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1276778309 CA343346711	142	R>K		No	ClinGen gnomAD
rs149603892 CA1210640	144	H>R		No	ClinGen ESP ExAC
rs989024887 CA31680197	144	H>Y		No	ClinGen TOPMed gnomAD
CA31680223 rs912139222	145	S>N		No	ClinGen TOPMed
rs944977866 CA31680253	146	W>*		No	ClinGen TOPMed
rs776769021 CA1210642	146	W>R		No	ClinGen ExAC TOPMed gnomAD
CA1210643 rs761938152	148	D>E		No	ClinGen ExAC gnomAD
CA343346806 rs1280366000	148	D>N		No	ClinGen gnomAD
TCGA novel	149	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779490441 CA1210645	150	P>A		No	ClinGen ExAC TOPMed gnomAD
CA343346864 rs773620534	152	V>I		No	ClinGen gnomAD
rs773620534 CA31680261	152	V>L		No	ClinGen gnomAD
rs1224632935 CA343346920	154	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs145979252 CA1210647	155	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1464674675 CA343347144	163	Q>H		No	ClinGen TOPMed
CA1210650 rs139202723	163	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1210651 rs781127278	164	K>I		No	ClinGen ExAC gnomAD
TCGA novel	167	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA343347216 rs1801274	167	H>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1162193322 CA343347213	167	H>Y		No	ClinGen TOPMed gnomAD
rs774829021 CA1210653	168	L>S		No	ClinGen ExAC TOPMed gnomAD
CA1210654 rs748710561	170	P>L		No	ClinGen ExAC gnomAD
rs868229314 CA31680326	170	P>S		No	ClinGen TOPMed
rs1557831544 CA343347280	171	T>A		No	ClinGen Ensembl
rs770453527 CA1210655	171	T>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1210657 rs760172471	179	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1439900873 CA343347558	186	H>Y		No	ClinGen gnomAD
rs940504688 CA31680353	187	C>Y		No	ClinGen TOPMed gnomAD
TCGA novel	188	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769218774 CA1210658	191	I>K		No	ClinGen ExAC TOPMed gnomAD
rs769218774 CA1210659	191	I>T		No	ClinGen ExAC TOPMed gnomAD
CA343347644 rs1487822502	192	G>V		No	ClinGen gnomAD
rs1263394820 CA343347674	194	T>A		No	ClinGen gnomAD
CA1210661 rs765336574	194	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1210664 rs141094947	196	F>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1571967466 CA343347737	198	S>P		No	ClinGen Ensembl
rs754949042 CA343347783	199	K>N		No	ClinGen ExAC gnomAD
rs1290934440 CA343347799	200	P>L		No	ClinGen gnomAD
rs1244086664 CA343347865	202	T>A		No	ClinGen TOPMed
CA1210669 rs571568091	205	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752407793 CA1210668	205	V>I		No	ClinGen ExAC gnomAD
CA343347930 rs752407793	205	V>L		No	ClinGen ExAC gnomAD
rs1342383697 CA343347955	206	Q>*		No	ClinGen gnomAD
CA343347968 rs1444604017	206	Q>P		No	ClinGen gnomAD
CA343347985 rs1344338480	207	V>M		No	ClinGen TOPMed
rs200868024 CA1210696	208	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748691249 CA343348291	209	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs748691249 CA1210697	209	S>T		No	ClinGen ExAC TOPMed gnomAD
CA1210699 rs201599672	210	M>I		No	ClinGen ExAC gnomAD
rs1179504708 CA343348308	210	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs770268286 CA1210698	210	M>V		No	ClinGen ExAC gnomAD
CA1210701 rs377335493	212	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs372881615 CA1210700	212	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1210702 rs774749223	214	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs138599605 CA1210706 CA343348478	216	M>I		No	ClinGen ESP ExAC gnomAD
rs369728370 CA1210705	216	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1210708 rs753609483	218	I>M		No	ClinGen ExAC TOPMed gnomAD
rs17851834 VAR_054859 CA31681184	218	I>V		No	ClinGen UniProt Ensembl dbSNP
CA1210709 rs761636880	219	I>T		No	ClinGen ExAC TOPMed gnomAD
CA343348576 rs1571969666	220	V>A		No	ClinGen Ensembl
TCGA novel	220	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1450519526 CA343348579	221	A>T		No	ClinGen TOPMed
CA1210712 rs757779164	222	V>G		No	ClinGen ExAC gnomAD
CA1210711 rs750088389	222	V>L		No	ClinGen ExAC gnomAD
CA1210713 rs765907644	223	V>G		No	ClinGen ExAC gnomAD
CA1210714 rs561384711	224	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs199502630 CA1210716	225	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1210715 rs199502630	225	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1210717 rs199502630	225	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1488401468 CA343348698	226	T>I		No	ClinGen gnomAD
CA1210719 rs779222605	227	A>T		No	ClinGen ExAC TOPMed gnomAD
rs746095882 CA1210720	228	V>I		No	ClinGen ExAC TOPMed gnomAD
rs746095882 CA1210721	228	V>L		No	ClinGen ExAC TOPMed gnomAD
CA1210722 rs200908410	229	A>P		No	ClinGen ExAC TOPMed gnomAD
rs200908410 CA1210723	229	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1210724 rs768607747	229	A>V		No	ClinGen ExAC gnomAD
CA343348800 rs1328441040	230	A>V		No	ClinGen TOPMed gnomAD
CA343348802 rs761538495	231	I>L		No	ClinGen ExAC TOPMed gnomAD
CA1210726 rs761538495	231	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765019224 CA1210727	235	V>I		No	ClinGen ExAC gnomAD
rs1213692673 CA343348955	239	I>F		No	ClinGen TOPMed
CA1210731 rs751046642	239	I>N		No	ClinGen ExAC gnomAD
rs1367258342 CA343348993	241	C>R		No	ClinGen TOPMed gnomAD
rs771260358 CA1210732	241	C>Y		No	ClinGen ExAC gnomAD
rs1445200504 CA343349038	242	R>S		No	ClinGen TOPMed
CA1210733 rs764650911	243	K>R		No	ClinGen ExAC gnomAD
CA1210735 rs534740747	244	K>N		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	244	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1210737 rs746278098	245	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1210736 rs147892588 RCV000890879 COSM1601145	245	R>W	liver [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1430931154 CA343349150	247	S>T		No	ClinGen TOPMed
CA1210761 rs781233917	250	S>F		No	ClinGen ExAC gnomAD
CA1210763 rs374658515	252	D>E		No	ClinGen ExAC TOPMed gnomAD
rs149146966 CA1210764	253	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1210765 rs373636398	254	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA1210767 rs773991787	257	A>T		No	ClinGen ExAC gnomAD
rs1280618425 CA343350984	257	A>V		No	ClinGen TOPMed gnomAD
CA1210768 rs759109384	259	F>S		No	ClinGen ExAC TOPMed gnomAD
CA343351122 rs1278204653	260	E>D		No	ClinGen gnomAD
CA1210770 rs771912362	260	E>G		No	ClinGen ExAC TOPMed gnomAD
CA1210769 rs771912362	260	E>V		No	ClinGen ExAC TOPMed gnomAD
CA343351856 rs1454010779	261	P>S		No	ClinGen TOPMed
CA343351852 rs1454010779	261	P>T		No	ClinGen TOPMed
rs752925917 CA1210797	262	P>S		No	ClinGen ExAC gnomAD
rs1557837901 CA343351872	263	G>R		No	ClinGen Ensembl
rs371071000 CA1210798	264	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA1210799 rs200303548	264	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754010543 CA1210800	266	M>V		No	ClinGen ExAC TOPMed gnomAD
CA1210801 rs757123488	267	I>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	271	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1340049861 CA343351955	271	K>Q		No	ClinGen gnomAD
rs382627 CA1210802	274	L>P		No	ClinGen ExAC TOPMed gnomAD
CA1210803 rs382627	274	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1272065352 CA343352010	276	E>K		No	ClinGen gnomAD
CA343352031 rs1250005297	277	T>S		No	ClinGen TOPMed
CA343352039 rs1249080523	278	N>S		No	ClinGen gnomAD
rs146883516 CA1210804	280	D>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146883516 CA343352062	280	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1226578395 CA343352080	282	E>K		No	ClinGen gnomAD
CA1210807 rs376020188	287	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs140186893 CA1210809	289	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs368451398 CA1210810	290	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA343352182 rs1471504512	291	L>P		No	ClinGen gnomAD
rs774942275 CA343352194	292	N>K		No	ClinGen ExAC TOPMed gnomAD
CA1210812 rs201969233	293	P>A		No	ClinGen ExAC TOPMed gnomAD
CA343352200 rs1426958515	293	P>H		No	ClinGen gnomAD
CA343352199 rs201969233	293	P>S		No	ClinGen ExAC TOPMed gnomAD
rs775904747 CA1210814	295	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	296	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1300765175 CA343352247	298	D>A		No	ClinGen TOPMed
rs760878448 CA343352244	298	D>H		No	ClinGen ExAC TOPMed gnomAD
rs760878448 CA1210815	298	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1210817 rs753834370 COSM676644	299	D>N	lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA343352275 rs1553197495	300	D>E		No	ClinGen Ensembl
CA1210819 rs765038092	300	D>G		No	ClinGen ExAC gnomAD
rs1164453331 CA343352267	300	D>N		No	ClinGen gnomAD
CA343352277 rs750399637	301	K>E		No	ClinGen ExAC TOPMed gnomAD
CA1210820 rs750399637	301	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA1210821 rs758476200	302	N>K		No	ClinGen ExAC TOPMed gnomAD
rs142780204 CA31689240	303	I>N		No	ClinGen ESP TOPMed
rs779982086 CA1210822	303	I>V		No	ClinGen ExAC gnomAD
rs1205397367 CA343352350	304	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1210823 rs746847135	307	L>F		No	ClinGen ExAC gnomAD
CA1210824 rs746847135	307	L>I		No	ClinGen ExAC gnomAD
CA343352518 rs12124551	310	N>K		No	ClinGen ExAC TOPMed gnomAD
rs774769908 CA343352553	311	D>E		No	ClinGen ExAC gnomAD
rs769355967 CA1210827	311	D>N		No	ClinGen ExAC TOPMed gnomAD
rs148465413 CA1210829	315	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	316	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with P12318

2 regional properties for P12318

Type	Name	Position	InterPro Accession
repeat	Armadillo	128 - 172	IPR000225
domain	Nucleotide exchange factor Fes1	1 - 81	IPR013918

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
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.
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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
secretory granule membrane	The lipid bilayer surrounding a secretory granule.

2 GO annotations of molecular function

Name	Definition
IgG binding	Binding to an immunoglobulin of an IgG isotype.
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.

3 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 system process	Any process involved in the development or functioning of the immune system, an organismal system for calibrated responses to potential internal or invasive threats.
regulation of immune response	Any process that modulates the frequency, rate or extent of the immune response, the immunological reaction of an organism to an immunogenic stimulus.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P12314	FCGR1A	High affinity immunoglobulin gamma Fc receptor I	Homo sapiens (Human)	PR
P08101	Fcgr2	Low affinity immunoglobulin gamma Fc region receptor II	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MTMETQMSQN	VCPRNLWLLQ	PLTVLLLLAS	ADSQAAAPPK	AVLKLEPPWI	NVLQEDSVTL
70	80	90	100	110	120
TCQGARSPES	DSIQWFHNGN	LIPTHTQPSY	RFKANNNDSG	EYTCQTGQTS	LSDPVHLTVL
130	140	150	160	170	180
SEWLVLQTPH	LEFQEGETIM	LRCHSWKDKP	LVKVTFFQNG	KSQKFSHLDP	TFSIPQANHS
190	200	210	220	230	240
HSGDYHCTGN	IGYTLFSSKP	VTITVQVPSM	GSSSPMGIIV	AVVIATAVAA	IVAAVVALIY
250	260	270	280	290	300
CRKKRISANS	TDPVKAAQFE	PPGRQMIAIR	KRQLEETNND	YETADGGYMT	LNPRAPTDDD
310
KNIYLTLPPN	DHVNSNN