AiPD: Autoinhibited Protein Database

Q96JW4

Gene name	SLC41A2
Protein name	Solute carrier family 41 member 2
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:84102
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

52-129 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

52-129 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q96JW4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96JW4-F1	Predicted				AlphaFoldDB

350 variants for Q96JW4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1381323882 CA386503608	4	S>G		No	ClinGen TOPMed gnomAD
CA386503600 rs1393602187	5	K>E		No	ClinGen gnomAD
rs780204706 CA386503584	7	R>I		No	ClinGen ExAC gnomAD
CA6757046 rs780204706	7	R>K		No	ClinGen ExAC gnomAD
rs780204706 CA386503585	7	R>T		No	ClinGen ExAC gnomAD
CA386503562 rs1401538248	11	D>N		No	ClinGen TOPMed gnomAD
CA243075877 rs999596830	14	S>N		No	ClinGen TOPMed gnomAD
rs1035448816 CA243075875	14	S>R		No	ClinGen TOPMed
CA6757045 rs61745056	15	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1565909267 CA386503523	17	P>S		No	ClinGen Ensembl
CA386503509 rs961750308	19	S>G		No	ClinGen TOPMed gnomAD
CA243075874 rs961750308	19	S>R		No	ClinGen TOPMed gnomAD
CA243075870 rs768677057	20	G>V		No	ClinGen Ensembl
CA386503491 rs1380927317	22	G>S		No	ClinGen gnomAD
rs1163284111 CA386503474	24	V>A		No	ClinGen TOPMed
COSM430205 CA386503476 rs1420781748	24	V>I	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
CA386503475 rs1420781748	24	V>L		No	ClinGen gnomAD
rs1006165337 CA243075868	25	D>G		No	ClinGen Ensembl
CA6757044 rs753881013	26	W>R		No	ClinGen ExAC TOPMed gnomAD
CA386503447 rs1403221388	28	L>S		No	ClinGen TOPMed
CA6757043 rs763784334	29	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6757042 rs755953713	29	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA243075863 rs755953713	29	R>P		No	ClinGen ExAC TOPMed gnomAD
rs895730638 CA243075861	31	N>S		No	ClinGen TOPMed
CA386503425 rs1219711606	32	T>A		No	ClinGen gnomAD
rs1055675929 CA243075858	34	Q>R		No	ClinGen TOPMed gnomAD
CA6757039 rs78726424	36	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1196108520 CA386503363	40	N>K		No	ClinGen gnomAD
rs773824319 CA6757035	49	I>M		No	ClinGen ExAC TOPMed gnomAD
CA386503271 rs762306892	53	N>K		No	ClinGen ExAC gnomAD
rs1200233850 CA386503269	54	Q>*		No	ClinGen TOPMed
rs929733052 CA243075843	59	K>E		No	ClinGen TOPMed
TCGA novel	59	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6757030 rs768950324	60	K>R		No	ClinGen ExAC TOPMed gnomAD
CA6757029 rs747260653	61	A>G		No	ClinGen ExAC gnomAD
CA386503216 rs1180922262	61	A>T		No	ClinGen gnomAD
CA243075836 rs918334845	62	N>D		No	ClinGen TOPMed
CA6757026 rs749161180	63	G>S		No	ClinGen ExAC TOPMed gnomAD
CA386503186 rs1163586503	65	W>C		No	ClinGen TOPMed
CA386503187 rs1284394175	65	W>L		No	ClinGen gnomAD
rs777729984 CA6757025	66	Q>R		No	ClinGen ExAC gnomAD
CA386503175 rs1565908930	67	D>H		No	ClinGen Ensembl
rs375718716 CA6757024	67	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA386503166 rs1260667343	68	G>E		No	ClinGen gnomAD
CA6757021 rs751296260	71	T>A		No	ClinGen ExAC TOPMed gnomAD
rs765796099 CA6757019	71	T>I		No	ClinGen ExAC
rs751296260 CA6757020	71	T>P		No	ClinGen ExAC TOPMed gnomAD
CA6757018 rs762575213	72	A>V		No	ClinGen ExAC gnomAD
rs765800930 CA6757016	73	V>A		No	ClinGen ExAC TOPMed gnomAD
CA6757015 rs762433419	74	Q>R		No	ClinGen ExAC gnomAD
rs1447303532 CA386503120	76	F>S		No	ClinGen TOPMed
rs944015368 CA243075818	78	N>H		No	ClinGen Ensembl
CA6757014 rs377630720	80	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA6757013 rs769209825	80	S>C		No	ClinGen ExAC TOPMed gnomAD
CA386503087 rs1173953923	81	E>G		No	ClinGen gnomAD
rs1565908761 CA386503089	81	E>Q		No	ClinGen Ensembl
CA386503070 rs1479947210	83	H>P		No	ClinGen gnomAD
rs1242329030 CA386503062	84	M>K		No	ClinGen TOPMed gnomAD
rs1242329030 CA386503061	84	M>T		No	ClinGen TOPMed gnomAD
CA386503065 rs1217069608	84	M>V		No	ClinGen TOPMed
CA6757012 rs760793306	86	Y>C		No	ClinGen ExAC gnomAD
CA243075813 rs202226051	87	H>Y		No	ClinGen gnomAD
rs775829674 CA6757011	90	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1255672454 CA386503014	91	E>K		No	ClinGen TOPMed gnomAD
CA243075810 rs772011802	92	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA6757010 rs772011802	92	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA386503005 rs1191131655	92	Q>P		No	ClinGen TOPMed
TCGA novel	96	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1223266830 CA386502966	97	N>S		No	ClinGen TOPMed gnomAD
CA386502967 rs1223266830	97	N>T		No	ClinGen TOPMed gnomAD
CA6757008 rs778983620	100	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs769657162 CA6757007	101	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs748086705 CA6757006	103	S>P		No	ClinGen ExAC TOPMed gnomAD
CA386502924 rs1453341242	104	S>G		No	ClinGen gnomAD
rs201457094 CA243075802	105	C>F		No	ClinGen TOPMed gnomAD
TCGA novel	108	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6757005 rs138431402	109	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6757004 rs754864347	110	D>E		No	ClinGen ExAC gnomAD
rs779798784 CA6757003	113	A>G		No	ClinGen ExAC TOPMed gnomAD
rs779798784 CA6757002	113	A>V		No	ClinGen ExAC TOPMed gnomAD
CA386502852 rs1257562872	114	N>H		No	ClinGen TOPMed
CA386502845 rs1210123356	114	N>K		No	ClinGen TOPMed
CA386502848 rs1474195273	114	N>S		No	ClinGen TOPMed gnomAD
rs1372039240 CA386502817	118	C>G		No	ClinGen gnomAD
CA6757001 rs758020311	119	D>G		No	ClinGen ExAC gnomAD
CA6756999 rs764853243	124	S>A		No	ClinGen ExAC gnomAD
rs76339393 CA243075790	125	E>K		No	ClinGen Ensembl
CA6756998 rs150096680	128	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386502747 rs1438781609	129	M>V		No	ClinGen gnomAD
CA386502733 rs754453323 COSM1139979	130	L>F	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA243075784 rs200419172	134	D>G		No	ClinGen TOPMed
rs146891870 CA243075781	135	I>M		No	ClinGen ESP TOPMed
CA6756995 rs140790243	135	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA386502700 rs1338952421	135	I>V		No	ClinGen gnomAD
CA6756994 rs561797493	136	S>C		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	136	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6756993 rs767726601	137	S>G		No	ClinGen ExAC gnomAD
rs145136445 CA6756991	140	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA243075774 rs141747310	141	E>G		No	ClinGen Ensembl
CA386502649 rs1288376716	142	D>E		No	ClinGen TOPMed
CA243075772 rs757729664	142	D>G		No	ClinGen TOPMed gnomAD
CA386502650 rs757729664	142	D>V		No	ClinGen TOPMed gnomAD
rs771069076 CA6756990	143	A>G		No	ClinGen ExAC gnomAD
CA386502636 rs576107984	144	I>M		No	ClinGen 1000Genomes ExAC gnomAD
CA386502641 rs1407925125	144	I>V		No	ClinGen gnomAD
CA386502635 rs1565908276	145	V>L		No	ClinGen Ensembl
CA386502617 rs1466276184	147	V>A		No	ClinGen gnomAD
rs374756756 CA6756987	149	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1329180445 CA386502602	150	K>Q		No	ClinGen TOPMed
CA6756986 rs746780232	152	P>Q		No	ClinGen ExAC gnomAD
CA6756985 rs779736222	153	K>E		No	ClinGen ExAC gnomAD
rs747224261 CA6756984	156	S>N		No	ClinGen ExAC gnomAD
CA386502556 rs1309980073	157	G>S		No	ClinGen TOPMed
rs1202863844 CA386502542	159	M>L		No	ClinGen gnomAD
CA386502543 rs1202863844	159	M>V		No	ClinGen gnomAD
rs981232370 CA243075755	164	L>I		No	ClinGen TOPMed
CA243075751 rs868374602	173	G>R		No	ClinGen Ensembl
CA386502440 rs1488581128	174	T>R		No	ClinGen TOPMed
CA6756977 rs753044128	179	M>V		No	ClinGen ExAC gnomAD
TCGA novel	180	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	182	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759754282 CA6756975	182	D>V		No	ClinGen ExAC gnomAD
rs1040793131 CA243075741	183	I>M		No	ClinGen TOPMed gnomAD
CA386501828 rs1228213426	187	W>*		No	ClinGen TOPMed
CA6756959 rs756573859	187	W>R		No	ClinGen ExAC gnomAD
CA243071840 rs1037888232	188	E>K		No	ClinGen Ensembl
TCGA novel	189	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6756958 rs753206988	190	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1272128797 CA386501795	192	K>E		No	ClinGen TOPMed gnomAD
rs1430491589 CA386501792	192	K>R		No	ClinGen gnomAD
CA386501776 rs1178996437	194	T>I		No	ClinGen gnomAD
TCGA novel	194	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	195	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs565606508 CA6756956	195	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA386501761 rs1187263308	197	F>L		No	ClinGen gnomAD
rs1486907853 CA386501758	197	F>S		No	ClinGen gnomAD
rs751752307 CA6756955	198	I>L		No	ClinGen ExAC TOPMed gnomAD
rs943048909 CA243071830	199	L>V		No	ClinGen TOPMed gnomAD
rs763186794 CA6756953	202	A>V		No	ClinGen ExAC gnomAD
rs1190067223 CA386501708	205	G>D		No	ClinGen TOPMed
CA386501700 rs1263599317	207	K>E		No	ClinGen gnomAD
CA6756952 rs750461365	207	K>R		No	ClinGen ExAC gnomAD
rs1253960020 CA386501690	208	G>A		No	ClinGen TOPMed
rs1321082132 CA386501650	214	L>M		No	ClinGen gnomAD
rs1265561611 CA386500927	222	V>A		No	ClinGen TOPMed
rs1168136992 CA386500930	222	V>L		No	ClinGen gnomAD
rs1387126280 CA386500911	224	I>T		No	ClinGen gnomAD
rs901266075 CA243068491	227	M>T		No	ClinGen Ensembl
rs777813662 CA6756934	229	S>P		No	ClinGen ExAC gnomAD
rs369963645 CA243068486	231	I>T		No	ClinGen ESP TOPMed
rs1392547474 CA386500866	231	I>V		No	ClinGen gnomAD
TCGA novel	233	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1565881542 CA386500828	236	L>I		No	ClinGen Ensembl
CA6756932 rs151080002	237	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA243068483 rs1031752151	237	I>M		No	ClinGen Ensembl
CA6756931 rs753981471	238	I>T		No	ClinGen ExAC gnomAD
TCGA novel	239	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386500783 rs1481445338	240	N>K		No	ClinGen gnomAD
rs767511336 CA6756930	241	L>F		No	ClinGen ExAC gnomAD
CA386500733 rs1565881475	245	Q>R		No	ClinGen Ensembl
rs1490402591	246	V>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA6756913 rs142913469	248	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA386499864 rs1207536457	250	V>I		No	ClinGen gnomAD
rs1477231899 CA386499831	252	G>V		No	ClinGen TOPMed
CA386499825 rs904761895	253	F>L		No	ClinGen TOPMed gnomAD
rs904761895 CA243067265	253	F>V		No	ClinGen TOPMed gnomAD
rs1241755504 CA386499818	254	L>V		No	ClinGen gnomAD
rs148543476 CA6756912	255	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA386499786 rs1405827879	257	V>A		No	ClinGen TOPMed gnomAD
CA6756910 rs754959146	260	I>T		No	ClinGen ExAC gnomAD
CA386499759 rs1347621865	260	I>V		No	ClinGen gnomAD
rs76838609 CA243067257	262	L>F		No	ClinGen Ensembl
rs1385707356 CA386499713	264	W>R		No	ClinGen gnomAD
CA243067255 rs1021667599	265	I>T		No	ClinGen TOPMed
rs1057182892 CA243067251	267	E>K		No	ClinGen TOPMed
rs1409531634 CA386499615	270	Y>C		No	ClinGen gnomAD
TCGA novel	270	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA243067249 rs955786218	273	D>H		No	ClinGen Ensembl
TCGA novel	273	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201983610 CA6756907	275	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA243067247 rs201983610	275	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6756906 rs773093851	276	I>L		No	ClinGen ExAC gnomAD
rs764751314 CA6756905	276	I>M		No	ClinGen ExAC TOPMed gnomAD
rs906344032 CA243067241	276	I>T		No	ClinGen TOPMed gnomAD
CA386499532 rs1450572557	277	L>F		No	ClinGen gnomAD
CA386499501 rs1593078402	279	C>F		No	ClinGen Ensembl
rs761541452 CA6756904	283	V>M		No	ClinGen ExAC gnomAD
TCGA novel	286	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386499385 rs1207462228	288	I>S		No	ClinGen gnomAD
rs1032684970 CA243067237	289	A>S		No	ClinGen TOPMed gnomAD
rs1373985892 CA386499330 COSM1135289	294	G>R	kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1593072953 CA386498784	295	I>M		No	ClinGen Ensembl
CA6756885 rs761369917	295	I>V		No	ClinGen ExAC TOPMed gnomAD
CA386498740 rs1272060568	298	V>A		No	ClinGen gnomAD
rs776323139 CA6756884	299	G>A		No	ClinGen ExAC TOPMed gnomAD
CA386498697 rs1163631331	302	V>A		No	ClinGen Ensembl
rs753959924 CA243066638	302	V>I		No	ClinGen TOPMed gnomAD
CA386498657 rs1468814242	305	K>E		No	ClinGen TOPMed
CA243066637 rs201324874	309	I>V		No	ClinGen 1000Genomes gnomAD
CA386498568 rs1413622960	312	D>V		No	ClinGen gnomAD
rs1396758496 CA386498551	314	V>I		No	ClinGen gnomAD
CA386498541 rs1169231592	315	A>T		No	ClinGen gnomAD
rs1427267712 CA386498522	316	T>I		No	ClinGen gnomAD
rs1388973126 CA386498500	318	I>T		No	ClinGen gnomAD
rs1453472339 CA386498482	320	A>T		No	ClinGen TOPMed
TCGA novel	323	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386498425 rs1365144095	324	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1236149099 CA386498417	324	D>V		No	ClinGen gnomAD
rs1187265827 CA386498389	326	I>M		No	ClinGen TOPMed gnomAD
rs1438693669 CA386498368	328	L>F		No	ClinGen gnomAD
rs1393166310 CA386498366	328	L>P		No	ClinGen Ensembl
rs560851365 CA6756880	329	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs771382588 CA6756877	330	I>M		No	ClinGen ExAC gnomAD
rs774572652 CA6756878	330	I>T		No	ClinGen ExAC gnomAD
CA6756879 rs746389618	330	I>V		No	ClinGen ExAC gnomAD
CA243066625 rs376206657 CA6756876	333	W>C		No	ClinGen ESP ExAC gnomAD
CA243066627 rs78151296	333	W>L		No	ClinGen Ensembl
rs1420288911 CA386498288	334	I>M		No	ClinGen gnomAD
CA6756875 rs778177802	336	Q>R		No	ClinGen ExAC gnomAD
COSM3416417 CA243066620 rs866165305	337	G>V	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs770175203 CA6756874	338	L>F		No	ClinGen ExAC gnomAD
rs1447037949 CA386498222	339	Y>F		No	ClinGen gnomAD
rs748192046 CA6756873	340	S>A		No	ClinGen ExAC TOPMed gnomAD
rs1395866956 CA386498203	341	C>Y		No	ClinGen TOPMed
CA386498195 rs1593072502	342	L>H		No	ClinGen Ensembl
TCGA novel	342	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6756849 rs201120964	345	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs771165396 CA6756848	350	P>S		No	ClinGen ExAC TOPMed gnomAD
CA243064450 rs919996513	352	V>A		No	ClinGen gnomAD
CA6756846 rs773739151	352	V>F		No	ClinGen ExAC gnomAD
CA243064449 rs975404596	353	G>D		No	ClinGen Ensembl
CA6756845 rs770087040	356	F>L		No	ClinGen ExAC
rs748390015 CA6756844	358	A>P		No	ClinGen ExAC gnomAD
rs781129809 CA6756843	358	A>V		No	ClinGen ExAC gnomAD
rs768840849 CA6756842	359	L>V		No	ClinGen ExAC TOPMed gnomAD
rs192057692 CA6756841	360	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA386502251 rs1593027448	360	T>P		No	ClinGen Ensembl
rs1283561693 CA386502243	361	P>R		No	ClinGen gnomAD
CA386502225 rs573935624	364	I>L		No	ClinGen 1000Genomes ExAC gnomAD
CA6756840 rs573935624	364	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1273699514 CA386502209	366	I>K		No	ClinGen gnomAD
rs777547708 CA6756837	371	P>A		No	ClinGen ExAC gnomAD
CA6756836 rs755758704	372	A>T		No	ClinGen ExAC gnomAD
rs1593027287 CA386502132	378	H>P		No	ClinGen Ensembl
CA243064448 rs1026204186	379	S>A		No	ClinGen TOPMed
rs1414425125 CA386502110	381	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1593027229 CA386502114	381	W>G		No	ClinGen Ensembl
rs1471077086 CA386502104	382	E>A		No	ClinGen TOPMed
rs868087416 CA243064446	383	P>R		No	ClinGen Ensembl
rs759121429 CA386502087	385	I>L		No	ClinGen ExAC gnomAD
rs759121429 CA6756833	385	I>V		No	ClinGen ExAC gnomAD
rs751059575 CA6756832	390	I>V		No	ClinGen ExAC gnomAD
CA6756831 rs766864035	392	S>G		No	ClinGen ExAC gnomAD
rs762310756 CA6756795	393	I>F		No	ClinGen ExAC
rs776892712 CA6756794	393	I>T		No	ClinGen ExAC TOPMed gnomAD
CA386501995 rs1360773713	397	I>T		No	ClinGen gnomAD
rs1315369737 CA386501988	398	L>R		No	ClinGen gnomAD
rs1394654011 CA386501986	399	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA386501946 rs1298983426	405	P>A		No	ClinGen TOPMed gnomAD
TCGA novel	405	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1298983426 CA386501945	405	P>S		No	ClinGen TOPMed gnomAD
rs1411872325 CA386501938	406	N>S		No	ClinGen gnomAD
rs751955964 CA243064000	407	L>F		No	ClinGen gnomAD
CA243063999 rs764526539	411	V>I		No	ClinGen Ensembl
CA386501901 rs1168035796	412	V>F		No	ClinGen gnomAD
CA6756791 rs775635488	414	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1272446578 CA386501887	414	T>P		No	ClinGen gnomAD
rs1379426471 CA386501861	418	N>S		No	ClinGen TOPMed
CA386501586 rs1456312135	419	G>D		No	ClinGen gnomAD
CA6756774 rs760937335	429	A>S		No	ClinGen ExAC gnomAD
CA6756773 rs141246548	430	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1451694817 CA386501501	432	I>F		No	ClinGen gnomAD
rs1463699159 CA386501485	434	T>I		No	ClinGen gnomAD
CA6756771 rs759570351	439	H>R		No	ClinGen ExAC TOPMed gnomAD
rs769665097 CA6756769	445	L>M		No	ClinGen ExAC TOPMed gnomAD
CA243062415 rs944960708	445	L>S		No	ClinGen Ensembl
CA386501396 rs1381407615	447	D>E		No	ClinGen TOPMed
CA386501394 rs1269226805	448	E>K		No	ClinGen gnomAD
TCGA novel	448	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386501360 rs1157429415	452	C>*		No	ClinGen TOPMed
CA386501363 rs1327437386	452	C>Y		No	ClinGen gnomAD
CA6756768 rs761662638	453	Y>N		No	ClinGen ExAC gnomAD
CA386501343 rs1224308355	455	P>S		No	ClinGen TOPMed gnomAD
rs776485499 CA6756767	458	T>A		No	ClinGen ExAC gnomAD
rs1565835532 CA386501301	461	G>S		No	ClinGen Ensembl
rs373566107 CA6756766	462	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	466	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759764564 CA6756754	469	A>S		No	ClinGen ExAC gnomAD
CA386501232 rs1327054821	469	A>V		No	ClinGen gnomAD
rs1298267782 CA386501229	470	Q>*		No	ClinGen gnomAD
CA386501205 rs1437159056	474	L>F		No	ClinGen TOPMed gnomAD
rs1437159056 CA386501207	474	L>I		No	ClinGen TOPMed gnomAD
rs570315588 CA6756752	477	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs761800950 CA6756751	479	G>E		No	ClinGen ExAC gnomAD
rs78423561 CA243062330	480	H>N		No	ClinGen Ensembl
CA243062329 rs1042348364	481	L>S		No	ClinGen Ensembl
TCGA novel	484	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386501136 rs1485331915	485	Y>H		No	ClinGen TOPMed
CA386501127 rs1170376633	486	T>S		No	ClinGen TOPMed gnomAD
CA386501119 rs1390205173	487	I>T		No	ClinGen gnomAD
CA386501122 rs1465137184	487	I>V		No	ClinGen gnomAD
CA386501114 rs1191109428	488	H>Y		No	ClinGen gnomAD
CA6756750 rs776484971	493	G>V		No	ClinGen ExAC gnomAD
CA386501058 rs1247873101	495	T>I		No	ClinGen gnomAD
rs768466973 CA6756749	497	L>S		No	ClinGen ExAC gnomAD
CA386501038 rs1254299514	499	I>V		No	ClinGen TOPMed
CA6756748 rs760348815	501	F>C		No	ClinGen ExAC gnomAD
rs775448833 CA6756747	503	V>A		No	ClinGen ExAC gnomAD
rs1200035430 CA386501001	504	V>G		No	ClinGen gnomAD
rs778553782 CA386500970	509	A>S		No	ClinGen ExAC TOPMed gnomAD
rs778553782 CA6756744	509	A>T		No	ClinGen ExAC TOPMed gnomAD
rs770644705 CA386504043	513	V>I		No	ClinGen ExAC gnomAD
CA6756725 rs770644705	513	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs748694135 CA6756724	514	F>L		No	ClinGen ExAC TOPMed gnomAD
CA243044454 rs772790316	515	T>I		No	ClinGen ExAC TOPMed gnomAD
rs772790316 CA6756723	515	T>S		No	ClinGen ExAC TOPMed gnomAD
rs776381462 CA6756722	520	A>S		No	ClinGen ExAC gnomAD
rs776381462 CA243044453	520	A>T		No	ClinGen ExAC gnomAD
rs781526872 CA6756720	521	D>N		No	ClinGen ExAC
rs755389362 CA6756719	523	M>I		No	ClinGen ExAC TOPMed gnomAD
rs747205180 CA6756718	524	V>G		No	ClinGen ExAC gnomAD
rs933562257 CA243044452	526	H>N		No	ClinGen Ensembl
rs1351317167 CA386503954	526	H>R		No	ClinGen TOPMed
CA243044451 rs113388840	529	R>G		No	ClinGen Ensembl
CA386503927 rs1592900389	530	K>E		No	ClinGen Ensembl
CA386503922 rs1163026788	530	K>N		No	ClinGen gnomAD
rs780100685 CA6756717	531	G>R		No	ClinGen ExAC gnomAD
CA6756716 rs758670210	532	K>E		No	ClinGen ExAC TOPMed gnomAD
rs750412859 CA6756715	533	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs765422534 CA6756714	534	P>A		No	ClinGen ExAC gnomAD
CA6756713 rs756105347	534	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA243044449 rs923426324	536	S>T		No	ClinGen Ensembl
rs1453253533 CA386503870	538	S>F		No	ClinGen gnomAD
CA6756708 rs774215525	544	A>V		No	ClinGen ExAC gnomAD
CA386503831 rs1329524552	545	L>M		No	ClinGen gnomAD
CA386503799 rs1226161179	550	G>R		No	ClinGen gnomAD
rs1372029470 CA386503793	551	T>S		No	ClinGen gnomAD
rs1274919226 CA386503787	552	A>T		No	ClinGen gnomAD
CA243044447 rs956622290	555	A>V		No	ClinGen Ensembl
rs1566085556 CA386503756	557	S>G		No	ClinGen Ensembl
rs771593512 CA6756705	558	F>*		No	ClinGen ExAC gnomAD
CA386503743 rs1325740362	558	F>L		No	ClinGen gnomAD
rs772595383 CA6756704	564	I>T		No	ClinGen ExAC gnomAD
rs1267973585 CA386503694	565	G>E		No	ClinGen TOPMed
COSM1510846 rs540046926 CA6756702	567	R>*	lung Variant assessed as Somatic; 4.635e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs540046926 CA243044446	567	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1472808514 CA386503684	567	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	569	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA386503672 rs1183844267	569	G>R		No	ClinGen TOPMed
CA386503644 rs1456886438	573	D>A		No	ClinGen gnomAD

No associated diseases with Q96JW4

2 regional properties for Q96JW4

Type	Name	Position	InterPro Accession
domain	SLC41A/MgtE, integral membrane domain	200 - 333	IPR006667-1
domain	SLC41A/MgtE, integral membrane domain	414 - 556	IPR006667-2

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

2 GO annotations of cellular component

Name	Definition
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.
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
magnesium ion transmembrane transporter activity	Enables the transfer of magnesium (Mg) ions from one side of a membrane to the other.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

6 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5ZHX6	SLC41A2	Solute carrier family 41 member 2	Gallus gallus (Chicken)	PR
Q8IVJ1	SLC41A1	Solute carrier family 41 member 1	Homo sapiens (Human)	PR
Q921R8	Slc41a3	Solute carrier family 41 member 3	Mus musculus (Mouse)	PR
Q8BJA2	Slc41a1	Solute carrier family 41 member 1	Mus musculus (Mouse)	PR
Q8BYR8	Slc41a2	Solute carrier family 41 member 2	Mus musculus (Mouse)	PR
Q3SWT5	Slc41a3	Solute carrier family 41 member 3	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MTNSKGRSIT	DKTSGGPSSG	GGFVDWTLRL	NTIQSDKFLN	LLLSMVPVIY	QKNQEDRHKK
70	80	90	100	110	120
ANGIWQDGLS	TAVQTFSNRS	EQHMEYHSFS	EQSFHANNGH	ASSSCSQKYD	DYANYNYCDG
130	140	150	160	170	180
RETSETTAML	QDEDISSDGD	EDAIVEVTPK	LPKESSGIMA	LQILVPFLLA	GFGTVSAGMV
190	200	210	220	230	240
LDIVQHWEVF	RKVTEVFILV	PALLGLKGNL	EMTLASRLST	AVNIGKMDSP	IEKWNLIIGN
250	260	270	280	290	300
LALKQVQATV	VGFLAAVAAI	ILGWIPEGKY	YLDHSILLCS	SSVATAFIAS	LLQGIIMVGV
310	320	330	340	350	360
IVGSKKTGIN	PDNVATPIAA	SFGDLITLAI	LAWISQGLYS	CLETYYYISP	LVGVFFLALT
370	380	390	400	410	420
PIWIIIAAKH	PATRTVLHSG	WEPVITAMVI	SSIGGLILDT	TVSDPNLVGI	VVYTPVINGI
430	440	450	460	470	480
GGNLVAIQAS	RISTYLHLHS	IPGELPDEPK	GCYYPFRTFF	GPGVNNKSAQ	VLLLLVIPGH
490	500	510	520	530	540
LIFLYTIHLM	KSGHTSLTII	FIVVYLFGAV	LQVFTLLWIA	DWMVHHFWRK	GKDPDSFSIP
550	560	570
YLTALGDLLG	TALLALSFHF	LWLIGDRDGD	VGD