AiPD: Autoinhibited Protein Database

P32248

Gene name	CCR7 (CMKBR7, EBI1, EVI1)
Protein name	C-C chemokine receptor type 7
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:1236
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

319-378 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

319-378 (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 P32248

Entry ID	Method	Resolution	Chain	Position	Source
6QZH	X-ray	210 A	A	46-247	PDB
AF-P32248-F1	Predicted				AlphaFoldDB

240 variants for P32248

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA8545017 rs773702421	2	D>N		No	ClinGen ExAC gnomAD
rs1468924854 CA399365609	3	L>P		No	ClinGen gnomAD
rs111607645 CA290545336	7	M>T		No	ClinGen Ensembl
rs2228015 VAR_049383 CA8545000	7	M>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	9	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8544999 rs773718925	9	S>N		No	ClinGen ExAC TOPMed gnomAD
CA8544997 rs762121218 COSM3787325	10	V>M	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA290545298 rs923958590	12	V>A		No	ClinGen TOPMed
rs774486933 CA8544996	12	V>L		No	ClinGen ExAC gnomAD
rs1329888154 CA399364224	13	V>L		No	ClinGen gnomAD
rs749396477 CA8544994	14	A>P		No	ClinGen ExAC TOPMed gnomAD
rs749396477 CA399364210	14	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	15	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8544993 rs374537899	16	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8544970 rs778708879	21	V>I		No	ClinGen ExAC gnomAD
rs1597722440 CA399362898	25	Q>E		No	ClinGen Ensembl
TCGA novel	25	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs558849085 CA8544968	26	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA399362866 rs1214374605	27	E>D		No	ClinGen gnomAD
CA8544967 rs779737131	29	T>M		No	ClinGen ExAC gnomAD
CA8544964 rs781615646	30	D>Y		No	ClinGen ExAC TOPMed gnomAD
COSM1679784 CA290543379 rs373108256	31	D>N	lung [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
rs1597722416 CA399362808	33	I>V		No	ClinGen Ensembl
CA399362782 rs1398049455	35	D>G		No	ClinGen TOPMed gnomAD
rs1161074222 CA399362769	36	N>S		No	ClinGen TOPMed
CA399362757 rs1410324774	37	T>I		No	ClinGen TOPMed gnomAD
CA399362759 rs1410324774	37	T>S		No	ClinGen TOPMed gnomAD
CA8544963 rs757771580	40	D>G		No	ClinGen ExAC gnomAD
rs751884593 CA8544962	43	L>F		No	ClinGen ExAC gnomAD
CA399362683 rs35928598	44	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1242577184 CA399362678	45	E>K		No	ClinGen gnomAD
CA399362677 rs1242577184	45	E>Q		No	ClinGen gnomAD
TCGA novel	46	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399362641 rs1463009610	48	C>R		No	ClinGen gnomAD
rs752966484 CA8544959	49	S>Y		No	ClinGen ExAC gnomAD
CA290543349 rs369773173	52	D>Y		No	ClinGen ESP
rs776754449 CA8544956	54	R>Q		No	ClinGen ExAC gnomAD
rs759676455 COSM256564 CA399362574	54	R>W	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1381620262 CA399362563	55	N>S		No	ClinGen gnomAD
CA399362531 rs1412136603	58	A>G		No	ClinGen TOPMed gnomAD
TCGA novel	59	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771915374 CA8544955	59	W>S		No	ClinGen ExAC gnomAD
CA8544954 rs761745878	60	F>S		No	ClinGen ExAC gnomAD
rs1313242139 CA399362511	61	L>F		No	ClinGen TOPMed
CA399362509 rs1318786556	61	L>P		No	ClinGen TOPMed
rs1442908309 CA399362497	63	I>S		No	ClinGen gnomAD
rs774048376 CA8544953	63	I>V		No	ClinGen ExAC TOPMed gnomAD
rs768527003 CA8544952	64	M>V		No	ClinGen ExAC TOPMed gnomAD
rs749072929 CA8544951	65	Y>C		No	ClinGen ExAC gnomAD
rs1348460473 CA399362474	67	I>V		No	ClinGen TOPMed
TCGA novel	68	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399362459 rs1422932247	69	C>R		No	ClinGen gnomAD
TCGA novel	70	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8544949 rs375638802	71	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA290543331 rs916242686	72	G>S		No	ClinGen TOPMed gnomAD
CA399362434 rs1177127089	73	L>I		No	ClinGen gnomAD
CA290543325 rs527363153	75	G>S		No	ClinGen Ensembl
CA399362408 rs1234934733	77	G>A		No	ClinGen TOPMed gnomAD
rs1013068828 CA290543322	79	V>L		No	ClinGen TOPMed gnomAD
CA8544944 rs778119660	80	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1407261794 CA399362385	81	L>F		No	ClinGen TOPMed
rs569744185 CA8544943	81	L>S		No	ClinGen 1000Genomes ExAC gnomAD
CA399362374 rs1397158566	83	Y>C		No	ClinGen gnomAD
CA8544939 rs753865062	94	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs766444905 CA8544938	101	A>E		No	ClinGen ExAC gnomAD
CA8544937 rs761681023	105	I>N		No	ClinGen ExAC gnomAD
rs187022118 CA8544936	106	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs867209804 CA290543295	107	F>I		No	ClinGen Ensembl
CA399362085 rs1426858957	110	T>I		No	ClinGen gnomAD
CA8544934 rs536242338	115	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399362028 rs536242338	115	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA399361999 rs1322548567	117	S>G		No	ClinGen TOPMed
rs369179451 CA8544933	117	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA290543285 rs147082234	118	A>S		No	ClinGen ESP ExAC gnomAD
CA8544931 rs147082234	118	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs770522078 CA8544928	119	A>D		No	ClinGen ExAC gnomAD
CA8544927 rs746470132	120	K>N		No	ClinGen ExAC TOPMed gnomAD
CA290543260 rs748522049	125	G>R		No	ClinGen ExAC gnomAD
CA8544924 rs748522049	125	G>S		No	ClinGen ExAC gnomAD
CA290543254 rs891813036	126	V>A		No	ClinGen TOPMed
CA8544923 rs765943208	126	V>I		No	ClinGen ExAC gnomAD
rs1233129803 CA399361842	131	L>P		No	ClinGen gnomAD
rs1350685141 CA399361837	132	I>T		No	ClinGen TOPMed gnomAD
TCGA novel	133	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754045581 CA8544921	133	F>V		No	ClinGen ExAC gnomAD
rs1345900866 CA399361804	134	A>S		No	ClinGen TOPMed gnomAD
rs1285016794 CA399361797	134	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8544919 rs756261392	135	I>V		No	ClinGen ExAC gnomAD
TCGA novel	140	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399361653 rs1174884909	141	F>L		No	ClinGen gnomAD
rs1347104209 CA399361658	141	F>S		No	ClinGen gnomAD
rs1454375599 CA399361665	141	F>V		No	ClinGen gnomAD
rs374509706 CA290543243	144	M>L		No	ClinGen ESP TOPMed gnomAD
rs762928024 CA8544916	149	C>S		No	ClinGen ExAC gnomAD
CA399361493 rs1426316087	150	I>L		No	ClinGen gnomAD
rs765073874 CA8544914	152	I>L		No	ClinGen ExAC gnomAD
CA8544913 rs759228506	152	I>T		No	ClinGen ExAC TOPMed gnomAD
CA399361394 rs1260772946	154	R>C		No	ClinGen gnomAD
CA399361387 rs1334562059	154	R>L		No	ClinGen TOPMed gnomAD
rs760286309 CA8544910	156	V>M		No	ClinGen ExAC TOPMed gnomAD
CA399361336 rs1216578084	157	A>D		No	ClinGen gnomAD
rs772570112 CA8544908	160	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA399361244 rs1297487522	163	S>A		No	ClinGen TOPMed
rs1383043268 CA399361219	164	A>V		No	ClinGen gnomAD
CA399361213 rs1364141913	165	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8544907 rs748611989	166	R>C		No	ClinGen ExAC gnomAD
CA399361197 rs1469701969	166	R>H		No	ClinGen gnomAD
CA399361173 rs1203341738	168	R>C		No	ClinGen TOPMed
CA8544905 rs368303609	168	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8544904 rs575312747	170	R>C		No	ClinGen ExAC gnomAD
rs374373475 CA8544903	170	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8544902 rs756277812	171	V>I		No	ClinGen ExAC TOPMed gnomAD
CA399361077 rs1182483186	175	S>N		No	ClinGen gnomAD
rs1461677737 CA399361056	176	K>R		No	ClinGen gnomAD
TCGA novel	177	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	183	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs367912385 CA8544901	183	W>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs781356213 CA8544900	188	V>M		No	ClinGen ExAC gnomAD
rs1169979338 CA399360692	197	S>C		No	ClinGen TOPMed
rs1452024550 CA399360654	199	L>F		No	ClinGen gnomAD
CA399360623 rs1339265756	201	R>K		No	ClinGen gnomAD
rs1597721988 CA399360607	202	S>I		No	ClinGen Ensembl
rs976630110 CA290543188	202	S>R		No	ClinGen Ensembl
rs1597721978 CA399360564	206	Q>K		No	ClinGen Ensembl
rs141181444 CA8544897 COSM978908	207	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA290543180 rs796269334	208	M>I		No	ClinGen TOPMed
CA399360533 rs1168897832	208	M>T		No	ClinGen gnomAD
CA399360525 rs1463167209	209	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8544895 rs753561165 COSM1382993	209	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs760174954 CA8544893	211	S>Y		No	ClinGen ExAC gnomAD
rs771518819 CA8544891	217	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1597721942 CA399360453	219	A>D		No	ClinGen Ensembl
rs1213836608 CA399360446	220	F>S		No	ClinGen TOPMed
rs1197360636 CA399360434	222	T>A		No	ClinGen gnomAD
CA290543134 rs909712800	223	I>L		No	ClinGen TOPMed
CA8544888 rs769043644	224	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA8544889 rs774882536	224	Q>R		No	ClinGen ExAC gnomAD
CA8544887 rs749719840	226	A>S		No	ClinGen ExAC gnomAD
CA399360411 rs749719840	226	A>T		No	ClinGen ExAC gnomAD
rs985656100 CA290543125	227	Q>E		No	ClinGen TOPMed gnomAD
rs968486927 CA290543124	229	V>A		No	ClinGen Ensembl
CA8544886 rs780226426	229	V>M		No	ClinGen ExAC TOPMed gnomAD
rs770060413 CA290543123	230	I>M		No	ClinGen ExAC TOPMed gnomAD
CA8544884 rs746049008	231	G>C		No	ClinGen ExAC TOPMed gnomAD
CA399360380 rs746049008	231	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	232	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1329912881 CA399360362	234	V>I		No	ClinGen gnomAD
rs1364164746 CA399360351	235	P>L		No	ClinGen gnomAD
CA399360356 rs1244378072	235	P>T		No	ClinGen TOPMed
CA399360350 rs1567828701	236	L>V		No	ClinGen Ensembl
rs781540430 CA8544883 COSM1302773	239	M>I	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	239	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757451307 CA8544882	242	C>Y		No	ClinGen ExAC
rs1469529906 CA399360295	244	L>I		No	ClinGen gnomAD
CA8544880 rs778966516	245	V>A		No	ClinGen ExAC gnomAD
rs1364316953 CA399360289	245	V>I		No	ClinGen TOPMed gnomAD
CA399360288 rs1364316953	245	V>L		No	ClinGen TOPMed gnomAD
CA399360280 rs1447278791	246	I>T		No	ClinGen gnomAD
rs1208984488 CA399360284	246	I>V		No	ClinGen TOPMed gnomAD
rs1267998736 CA399360276	247	I>V		No	ClinGen gnomAD
rs568161538 CA8544878	248	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8544877 rs760394768	248	R>H		No	ClinGen ExAC TOPMed gnomAD
CA8544876 rs760394768	248	R>L		No	ClinGen ExAC TOPMed gnomAD
rs895948660 CA290543085	249	T>S		No	ClinGen Ensembl
CA8544872 rs375301390	254	R>C		No	ClinGen ESP ExAC gnomAD
rs764674952 CA8544871	254	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA399360206 rs1405128587	258	R>C		No	ClinGen gnomAD
rs1429679870 CA399360205	258	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8544868 rs370269806	259	N>K		No	ClinGen ESP ExAC gnomAD
rs761587861 CA8544869	259	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1399630591 CA399360186	261	A>S		No	ClinGen gnomAD
rs1234451864 CA399360185	261	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8544867 rs746202899	266	I>V		No	ClinGen ExAC gnomAD
CA290543064 rs764245161	267	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8544865 rs145153052	270	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8544864 rs747098550	271	V>A		No	ClinGen ExAC gnomAD
rs941995546 CA290543061	271	V>F		No	ClinGen Ensembl
CA290543056 rs1044656618	273	I>V		No	ClinGen TOPMed gnomAD
rs62066592 CA290543052	281	G>W		No	ClinGen Ensembl
rs1285100435 CA399360053	282	V>M		No	ClinGen gnomAD
CA399360037 rs1211106083	285	A>T		No	ClinGen TOPMed gnomAD
rs768993004 CA8544860	287	T>M		No	ClinGen ExAC TOPMed gnomAD
CA8544858 rs750217276 COSM978906	290	N>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs767218654 CA8544857	293	I>T		No	ClinGen ExAC gnomAD
rs140869107 CA8544856	296	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA399359951 rs1408549512	297	T>I		No	ClinGen TOPMed
CA399359919 rs1468121375	302	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs934578746 CA290543032	303	Q>K		No	ClinGen Ensembl
rs775899752 CA8544852	307	A>T	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8544850 rs116263918	308	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8544848 rs771282973	309	D>N		No	ClinGen ExAC gnomAD
rs773362430 CA8544846	310	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1597721680 CA399359858	311	T>P		No	ClinGen Ensembl
CA399359853 rs1243087807 COSM3795584	312	Y>H	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA399359851 rs1597721669	312	Y>S		No	ClinGen Ensembl
rs1204924704 CA399359837	314	L>V		No	ClinGen gnomAD
TCGA novel	315	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA399359824 rs1271374255	316	C>Y		No	ClinGen gnomAD
CA8544843 rs200720683	317	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8544842 rs371206760	318	R>C		No	ClinGen ESP ExAC gnomAD
rs1228290406 CA399359812	318	R>H		No	ClinGen TOPMed
rs780902189 CA8544840	321	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8544837 rs763782549	327	A>T		No	ClinGen ExAC TOPMed gnomAD
rs752234593 CA8544835	330	G>S		No	ClinGen ExAC gnomAD
CA290542964 rs994101385 COSM1640681	331	V>I	stomach [Cosmic]	No	ClinGen cosmic curated TOPMed
CA8544833 rs146694134	334	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
COSM978905 rs1442842565 CA399359702	334	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA8544832 rs754285590	335	N>S		No	ClinGen ExAC gnomAD
rs761077309 CA8544830	337	L>F		No	ClinGen ExAC gnomAD
rs761077309 CA399359684	337	L>V		No	ClinGen ExAC gnomAD
rs1204304294 CA399359673	338	F>L		No	ClinGen TOPMed gnomAD
rs1179893237 CA399359678	338	F>V		No	ClinGen TOPMed
rs148614545 CA8544828	339	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA399359629 rs1597721579	343	D>A		No	ClinGen Ensembl
rs774431889 CA8544826	343	D>H		No	ClinGen ExAC gnomAD
rs769732065 CA8544825	344	L>V		No	ClinGen ExAC gnomAD
CA399359606 rs1315206470	345	G>D		No	ClinGen gnomAD
CA8544823 rs780990133	348	S>N		No	ClinGen ExAC gnomAD
rs1442681961 CA399359054	352	L>F		No	ClinGen gnomAD
CA8544821 rs746812817	353	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM1382991 CA8544820 rs200794532	353	R>Q	Variant assessed as Somatic; 0.0001387 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs746812817 CA399359050	353	R>W		No	ClinGen ExAC TOPMed gnomAD
CA290542916 rs200037144	354	Q>L		No	ClinGen Ensembl
CA8544819 rs758006926	355	W>R		No	ClinGen ExAC TOPMed gnomAD
CA290542869 rs143854738	359	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8544815 rs143854738	359	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs755563290 CA8544816	359	R>W		No	ClinGen ExAC TOPMed gnomAD
rs772407156 CA290542865	361	I>N		No	ClinGen Ensembl
CA8544813 rs761014378	362	R>Q		No	ClinGen ExAC gnomAD
rs150068770 CA8544814	362	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs947333410 CA290542853	363	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8544812 rs374797000	363	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1291820003 CA399358984	364	S>F		No	ClinGen gnomAD
CA399358979 rs1314998798	365	S>Y		No	ClinGen gnomAD
CA290542835 rs991139043	366	M>I		No	ClinGen TOPMed gnomAD
rs1224336941 CA399358974	366	M>T		No	ClinGen gnomAD
CA290542841 rs915570645	366	M>V		No	ClinGen TOPMed gnomAD
CA399358962 rs1270872282	368	V>M		No	ClinGen TOPMed
rs1365219236 CA399358942	371	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs763002099 CA8544807	377	S>A		No	ClinGen ExAC gnomAD

No associated diseases with P32248

1 regional properties for P32248

Type	Name	Position	InterPro Accession
domain	GPCR, rhodopsin-like, 7TM	75 - 326	IPR017452

Functions

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

5 GO annotations of cellular component

Name	Definition
cell surface	The external part of the cell wall and/or plasma membrane.
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.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

7 GO annotations of molecular function

Name	Definition
C-C chemokine binding	Binding to a C-C chemokine; C-C chemokines do not have an amino acid between the first two cysteines of the characteristic four-cysteine motif.
C-C chemokine receptor activity	Combining with a C-C chemokine and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity. C-C chemokines do not have an amino acid between the first two cysteines of the characteristic four-cysteine motif.
C-C motif chemokine 19 receptor activity	Combining with the C-C motif chemokine 19 (CCL19) and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.
C-C motif chemokine 21 receptor activity	Combining with the C-C motif chemokine 21 (CCL21) and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity.
chemokine (C-C motif) ligand 19 binding	Binding to chemokine (C-C motif) ligand 19.
chemokine (C-C motif) ligand 21 binding	Binding to chemokine (C-C motif) ligand 21.
G protein-coupled receptor activity	Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex.

47 GO annotations of biological process

Name	Definition
activation of GTPase activity	Any process that initiates the activity of an inactive GTPase through the replacement of GDP by GTP.
calcium-mediated signaling	Any intracellular signal transduction in which the signal is passed on within the cell via calcium ions.
cell chemotaxis	The directed movement of a motile cell guided by a specific chemical concentration gradient. Movement may be towards a higher concentration (positive chemotaxis) or towards a lower concentration (negative chemotaxis).
cellular response to cytokine stimulus	Any 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 cytokine stimulus.
dendritic cell chemotaxis	The movement of a dendritic cell in response to an external stimulus.
establishment of T cell polarity	The directed orientation of T cell signaling molecules and associated membrane rafts towards a chemokine gradient or a contact point with antigen presenting cell.
G protein-coupled receptor signaling pathway	The series of molecular signals initiated by a ligand binding to its receptor, in which the activated receptor promotes the exchange of GDP for GTP on the alpha-subunit of an associated heterotrimeric G-protein complex. The GTP-bound activated alpha-G-protein then dissociates from the beta- and gamma-subunits to further transmit the signal within the cell. The pathway begins with receptor-ligand interaction, and ends with regulation of a downstream cellular process. The pathway can start from the plasma membrane, Golgi or nuclear membrane.
homeostasis of number of cells	Any biological process involved in the maintenance of the steady-state number of cells within a population of cells.
immune response	Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat.
inflammatory response	The immediate defensive reaction (by vertebrate tissue) to infection or injury caused by chemical or physical agents. The process is characterized by local vasodilation, extravasation of plasma into intercellular spaces and accumulation of white blood cells and macrophages.
lymphocyte migration into lymph node	The movement of a lymphocyte within the lymphatic system into a lymph node, and its subsequent positioning within defined functional compartments such as sites of cell activation by antigen.
mature conventional dendritic cell differentiation	The process in which antigen-activated dendritic cells acquire the specialized features of a mature conventional dendritic cell. Mature conventional dendritic cells upregulate the surface expression of MHC molecules, chemokine receptors and adhesion molecules, and increase the number of dendrites (cytoplasmic protrusions) in preparation for migration to lymphoid organs where they present antigen to T cells.
myeloid dendritic cell chemotaxis	The movement of a myeloid dendritic cell in response to an external stimulus.
negative regulation of dendritic cell apoptotic process	Any process that stops, prevents or reduces the frequency, rate or extent of dendritic cell apoptotic process.
negative regulation of interleukin-12 production	Any process that stops, prevents, or reduces the frequency, rate, or extent of interleukin-12 production.
negative thymic T cell selection	The process of elimination of immature T cells in the thymus which react strongly with self-antigens.
positive regulation of actin filament polymerization	Any process that activates or increases the frequency, rate or extent of actin polymerization.
positive regulation of cell adhesion	Any process that activates or increases the frequency, rate or extent of cell adhesion.
positive regulation of cell motility	Any process that activates or increases the frequency, rate or extent of cell motility.
positive regulation of cell-matrix adhesion	Any process that activates or increases the rate or extent of cell adhesion to an extracellular matrix.
positive regulation of cytosolic calcium ion concentration	Any process that increases the concentration of calcium ions in the cytosol.
positive regulation of dendritic cell antigen processing and presentation	Any process that activates or increases the frequency, rate, or extent of dendritic cell antigen processing and presentation.
positive regulation of dendritic cell chemotaxis	Any process that activates or increases the frequency, rate or extent of dendritic cell chemotaxis.
positive regulation of ERK1 and ERK2 cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
positive regulation of filopodium assembly	Any process that activates or increases the frequency, rate or extent of the assembly of a filopodium, a thin, stiff protrusion extended by the leading edge of a motile cell such as a crawling fibroblast or amoeba, or an axonal growth cone.
positive regulation of glycoprotein biosynthetic process involved in immunological synapse formation	Any positive regulation of glycoprotein biosynthetic process that is involved in immunological synapse formation.
positive regulation of humoral immune response	Any process that activates or increases the frequency, rate, or extent of a humoral immune response.
positive regulation of hypersensitivity	Any process that activates or increases the frequency, rate, or extent of hypersensitivity.
positive regulation of I-kappaB kinase/NF-kappaB signaling	Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling.
positive regulation of immunological synapse formation	Any process that activates or increases the frequency, rate or extent of immunological synapse formation.
positive regulation of interleukin-12 production	Any process that activates or increases the frequency, rate, or extent of interleukin-12 production.
positive regulation of JNK cascade	Any process that activates or increases the frequency, rate or extent of signal transduction mediated by the JNK cascade.
positive regulation of neutrophil chemotaxis	Any process that increases the frequency, rate, or extent of neutrophil chemotaxis. Neutrophil chemotaxis is the directed movement of a neutrophil cell, the most numerous polymorphonuclear leukocyte found in the blood, in response to an external stimulus, usually an infection or wounding.
positive regulation of phosphatidylinositol 3-kinase activity	Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity.
positive regulation of protein kinase activity	Any process that activates or increases the frequency, rate or extent of protein kinase activity.
positive regulation of protein kinase B signaling	Any process that activates or increases the frequency, rate or extent of protein kinase B signaling, a series of reactions mediated by the intracellular serine/threonine kinase protein kinase B.
positive regulation of pseudopodium assembly	Any process that activates or increases the frequency, rate or extent of the assembly of pseudopodia.
positive regulation of T cell costimulation	Any process that activates or increases the frequency, rate or extent of T cell costimulation.
positive regulation of T cell receptor signaling pathway	Any process that activates or increases the frequency, rate or extent of signaling pathways initiated by the cross-linking of an antigen receptor on a T cell.
regulation of dendritic cell dendrite assembly	Any process that modulates the frequency, rate or extent of dendritic cell dendrite assembly.
regulation of interferon-gamma production	Any process that modulates the frequency, rate, or extent of interferon-gamma production. Interferon-gamma is also known as type II interferon.
regulation of interleukin-1 beta production	Any process that modulates the frequency, rate, or extent of interleukin-1 beta production.
release of sequestered calcium ion into cytosol	The process in which calcium ions sequestered in the endoplasmic reticulum, Golgi apparatus or mitochondria are released into the cytosolic compartment.
response to lipopolysaccharide	Any process that results in a change in state or activity of an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a lipopolysaccharide stimulus; lipopolysaccharide is a major component of the cell wall of gram-negative bacteria.
response to nitric oxide	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitric oxide stimulus.
response to prostaglandin E	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a prostagladin E stimulus.
ruffle organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a ruffle, a projection at the leading edge of a crawling cell.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P41597	CCR2	C-C chemokine receptor type 2	Homo sapiens (Human)	PR
P51681	CCR5	C-C chemokine receptor type 5	Homo sapiens (Human)	PR
P61073	CXCR4	C-X-C chemokine receptor type 4	Homo sapiens (Human)	PR

10	20	30	40	50	60
MDLGKPMKSV	LVVALLVIFQ	VCLCQDEVTD	DYIGDNTTVD	YTLFESLCSK	KDVRNFKAWF
70	80	90	100	110	120
LPIMYSIICF	VGLLGNGLVV	LTYIYFKRLK	TMTDTYLLNL	AVADILFLLT	LPFWAYSAAK
130	140	150	160	170	180
SWVFGVHFCK	LIFAIYKMSF	FSGMLLLLCI	SIDRYVAIVQ	AVSAHRHRAR	VLLISKLSCV
190	200	210	220	230	240
GIWILATVLS	IPELLYSDLQ	RSSSEQAMRC	SLITEHVEAF	ITIQVAQMVI	GFLVPLLAMS
250	260	270	280	290	300
FCYLVIIRTL	LQARNFERNK	AIKVIIAVVV	VFIVFQLPYN	GVVLAQTVAN	FNITSSTCEL
310	320	330	340	350	360
SKQLNIAYDV	TYSLACVRCC	VNPFLYAFIG	VKFRNDLFKL	FKDLGCLSQE	QLRQWSSCRH
370
IRRSSMSVEA	ETTTTFSP