AiPD: Autoinhibited Protein Database

Q9NZW5

Gene name	PALS2
Protein name	Protein PALS2
Names	MAGUK p55 subfamily member 6, Membrane protein, palmitoylated 6, Veli-associated MAGUK 1, VAM-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:51678
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

71-148 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

71-148 (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 Q9NZW5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9NZW5-F1	Predicted				AlphaFoldDB

344 variants for Q9NZW5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA4190835 rs201238315	3	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA367056190 rs1562620623	4	V>I		No	ClinGen Ensembl
CA155868983 rs900210145	6	E>A		No	ClinGen TOPMed
CA367056217 rs1233892745	7	N>K		No	ClinGen gnomAD
CA367056214 rs1381212961	7	N>S		No	ClinGen gnomAD
TCGA novel	8	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4190836 rs757083943	9	T>A		No	ClinGen ExAC gnomAD
CA367056226 rs781197516	9	T>K		No	ClinGen ExAC TOPMed gnomAD
rs781197516 COSM218921 CA4190837	9	T>M	Variant assessed as Somatic; 0.0 impact. pancreas endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs781197516 CA4190838	9	T>R		No	ClinGen ExAC TOPMed gnomAD
rs866577141 CA155868984	10	E>K		No	ClinGen Ensembl
COSM366856 CA4190841 rs771037950	13	S>L	lung Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1291810524 CA367056251	14	S>P		No	ClinGen TOPMed
rs1248145833 CA367056257	15	T>A		No	ClinGen TOPMed
CA367056256 rs1248145833	15	T>P		No	ClinGen TOPMed
CA4190843 rs773971828	16	G>*		No	ClinGen ExAC gnomAD
TCGA novel	16	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4190844 rs761495617	19	E>G		No	ClinGen ExAC gnomAD
CA4190845 rs771283348	21	D>N		No	ClinGen ExAC TOPMed gnomAD
CA367056328 rs1159885893	26	K>Q		No	ClinGen gnomAD
rs1408233867 CA367056341	27	G>V		No	ClinGen gnomAD
CA4190847 rs760020564	29	M>L		No	ClinGen ExAC gnomAD
CA4190848 rs765693726	31	N>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	32	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4190849 rs752769791	32	P>S		No	ClinGen ExAC gnomAD
rs762915480 CA4190850	33	I>V		No	ClinGen ExAC TOPMed gnomAD
rs767366156 CA4190854	39	K>*		No	ClinGen ExAC
CA367029689 rs1252479536	40	A>S		No	ClinGen TOPMed
rs1229668750 CA367029704	42	E>G		No	ClinGen TOPMed
CA367029701 rs766240383	42	E>K		No	ClinGen ExAC gnomAD
CA4190878 rs766240383	42	E>Q		No	ClinGen ExAC gnomAD
rs1471799769 CA367029712	43	R>K		No	ClinGen gnomAD
rs753717483 CA4190880	43	R>S		No	ClinGen ExAC gnomAD
rs1383196417 CA367029724	45	E>D		No	ClinGen gnomAD
rs1320158242 CA367029723	45	E>G		No	ClinGen gnomAD
CA4190882 rs747685358	45	E>K		No	ClinGen ExAC gnomAD
rs768590297 CA4190883	48	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA4190885 rs746714576	49	L>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	51	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA155338561 rs1027374126	53	S>G		No	ClinGen Ensembl
CA155338563 rs951862118	53	S>N		No	ClinGen Ensembl
rs1389982904 CA367029779	54	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1232060805 CA367029797	56	N>S		No	ClinGen gnomAD
rs1334921331 CA367029824	60	V>L		No	ClinGen gnomAD
rs749702785 CA4190888	63	I>V		No	ClinGen ExAC gnomAD
CA4190889 rs769291787	64	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs769291787 CA4190890	64	L>V		No	ClinGen ExAC TOPMed gnomAD
rs370529602 CA4190892	65	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA367029871 rs1189989244	67	I>V		No	ClinGen TOPMed gnomAD
CA4190893 rs755496031	68	T>A		No	ClinGen ExAC TOPMed gnomAD
rs761028203 CA4190894	68	T>I		No	ClinGen ExAC TOPMed gnomAD
CA4190895 rs774242333	69	P>S		No	ClinGen ExAC TOPMed gnomAD
CA367029904 rs1158655785	72	N>K		No	ClinGen gnomAD
rs267601470 CA155338573	74	D>N		No	ClinGen Ensembl
rs1455584124 CA367029919	75	E>K		No	ClinGen gnomAD
CA4190897 rs759427051	76	N>S		No	ClinGen ExAC gnomAD
rs752676362 CA4190899	83	I>M		No	ClinGen ExAC gnomAD
rs976801624 CA155338576	89	F>L		No	ClinGen TOPMed gnomAD
CA155341984 rs201115626	100	A>S		No	ClinGen ExAC gnomAD
CA4190920 rs201115626	100	A>T		No	ClinGen ExAC gnomAD
CA367031012 rs1249621085	100	A>V		No	ClinGen gnomAD
CA155341989 rs890140413	102	K>E		No	ClinGen gnomAD
rs1452850072 CA367031089	103	C>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA367031128 rs200245739	105	D>H		No	ClinGen 1000Genomes TOPMed
CA155342002 rs200245739	105	D>N		No	ClinGen 1000Genomes TOPMed
TCGA novel	105	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367031206 rs1168971957	107	P>L		No	ClinGen gnomAD
rs779490991 CA4190925	107	P>S		No	ClinGen ExAC gnomAD
CA367031211 rs1406980564	108	P>T		No	ClinGen TOPMed
rs1167316822 CA367031305	112	E>G		No	ClinGen TOPMed
rs117927165 CA367031413	115	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs117927165 CA4190926	115	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367031443 rs1264793643	116	S>C		No	ClinGen TOPMed
rs142938712 CA367031462	118	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777672848 CA4190929	118	I>M		No	ClinGen ExAC
rs142938712 CA4190927	118	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA155342023 rs1021192987	119	N>S		No	ClinGen TOPMed
CA367031536 rs1413377680	120	N>H		No	ClinGen TOPMed gnomAD
CA4190930 rs528082553	121	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs184689331 CA4190932	125	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs184689331 CA4190931	125	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1088680 CA367031799 rs1014182278	129	R>C	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1014182278 CA155342035	129	R>G		No	ClinGen TOPMed gnomAD
rs1212673403 CA367031827	130	I>T		No	ClinGen TOPMed gnomAD
CA4190933 rs201370764	130	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs530591233 CA4190935	133	I>M		No	ClinGen 1000Genomes ExAC gnomAD
CA4190934 rs769563046	133	I>V		No	ClinGen ExAC
CA367031899 rs1309286625	134	H>Y		No	ClinGen gnomAD
rs1272691735 CA367031951	136	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	139	E>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4190938 rs773686809	141	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1401690373 CA367032598	142	G>D		No	ClinGen TOPMed
CA367032594 rs1305327000	142	G>R		No	ClinGen TOPMed
CA367032593 rs1305327000	142	G>S		No	ClinGen TOPMed
rs1185731573 CA367032608	143	V>L		No	ClinGen Ensembl
CA4190961 rs766148963	148	E>A		No	ClinGen ExAC gnomAD
CA367032726 rs1406745518	151	D>E		No	ClinGen gnomAD
rs1405524548 CA367032721	151	D>G		No	ClinGen TOPMed
rs1355816586 CA367032714	151	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	154	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1467784832 CA367032763	155	A>S		No	ClinGen TOPMed
rs1210478719 CA367032776	156	R>Q		No	ClinGen gnomAD
rs186489100 CA155342514	162	M>T		No	ClinGen 1000Genomes gnomAD
rs764429109 CA4190964	163	I>V		No	ClinGen ExAC TOPMed gnomAD
CA155342535 rs1025484558	164	D>A		No	ClinGen TOPMed gnomAD
TCGA novel	164	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA155342538 COSM183765 rs565671330	165	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs752093173 CA4190965	165	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs756280778 CA4190969	169	L>F		No	ClinGen ExAC gnomAD
rs1210733058 CA367032935	170	H>Q		No	ClinGen gnomAD
rs780235524 CA4190970	170	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1278848328 CA367032946	172	G>E		No	ClinGen TOPMed gnomAD
CA367032960 rs1289934881	174	I>K		No	ClinGen gnomAD
rs1289934881 CA367032962	174	I>T		No	ClinGen gnomAD
rs1231866536 CA573757583	177	E>HM*		No	ClinGen gnomAD
CA4190971 rs368896893	179	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs774075238 CA4190973	181	H>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	182	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1186117738 CA367033079	183	V>I		No	ClinGen gnomAD
rs1171570336 CA367033109	185	N>S		No	ClinGen gnomAD
CA367033160 rs1435329347	189	E>A		No	ClinGen TOPMed gnomAD
rs1334918854 CA367033183	191	Q>*		No	ClinGen gnomAD
TCGA novel	196	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772143286 CA4190975	196	N>S		No	ClinGen ExAC gnomAD
rs935708647 CA155342588	197	I>T		No	ClinGen gnomAD
CA367033305 rs1458003955	199	G>R		No	ClinGen gnomAD
CA4190977 rs760237573	200	S>N		No	ClinGen ExAC gnomAD
rs913019908 COSM1088681 CA155342596	204	K>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs868844288 CA155342615	207	P>L		No	ClinGen Ensembl
rs1334927762 CA367033413	208	S>N		No	ClinGen TOPMed
rs147644077 CA4190978	209	Y>C		No	ClinGen ESP ExAC gnomAD
CA367033452 rs1158265760	211	D>A		No	ClinGen TOPMed
rs936999514 CA155342628	211	D>N		No	ClinGen TOPMed
rs1435595140 CA367033463	212	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA367033472 rs1206138321	212	T>I		No	ClinGen gnomAD
CA367033470 rs1206138321	212	T>S		No	ClinGen gnomAD
rs759164894 CA4190980	213	I>V		No	ClinGen ExAC gnomAD
CA4190981 rs764461060	215	P>S		No	ClinGen ExAC gnomAD
rs1396731008 CA367033512	216	Q>*		No	ClinGen gnomAD
rs1045470313 CA155342645	217	Q>K		No	ClinGen gnomAD
TCGA novel	219	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762144342 CA4191003	219	F>L		No	ClinGen ExAC gnomAD
CA4191004 rs767911744 CA155349705	220	V>L		No	ClinGen ExAC TOPMed gnomAD
CA367034262 rs767911744	220	V>M		No	ClinGen ExAC TOPMed gnomAD
CA155349716 rs754165740	229	Y>C		No	ClinGen Ensembl
rs887184170 CA155349717	230	N>H		No	ClinGen TOPMed gnomAD
rs189942894 CA4191006	230	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1278203986 CA367034390	231	D>N		No	ClinGen gnomAD
rs766428400 CA4191007	232	N>K		No	ClinGen ExAC TOPMed gnomAD
CA4191009 rs755190525	234	I>V		No	ClinGen ExAC TOPMed gnomAD
rs779029184 CA4191010	235	P>S		No	ClinGen ExAC gnomAD
CA367034514 rs1583973267	241	L>F		No	ClinGen Ensembl
rs1203247170 CA367034519	242	K>M		No	ClinGen TOPMed
rs1448654656 CA367034548	244	S>Y		No	ClinGen gnomAD
rs1324592231 CA367034551	245	K>E		No	ClinGen TOPMed
CA4191012 rs758261155	246	G>E		No	ClinGen ExAC gnomAD
COSM1698431 CA367034561 rs1285468577	246	G>R	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA367034581 rs1053962	247	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199927855 CA4191014 CA4191015	250	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4191016 rs780713419	251	I>F		No	ClinGen ExAC gnomAD
rs1278813216 CA367034609	251	I>T		No	ClinGen TOPMed
CA367034611 rs1442917600	252	V>I		No	ClinGen TOPMed
rs745390301 CA4191017	253	N>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	254	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	257	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367034651 rs1481861047	257	P>R		No	ClinGen TOPMed gnomAD
CA367034657 rs1458657590	258	N>S		No	ClinGen gnomAD
CA4191018 rs769396817	261	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs1402296604 CA367034915	262	A>P		No	ClinGen gnomAD
CA367034951 rs1048985771	264	H>Q		No	ClinGen TOPMed gnomAD
CA367034947 rs1290745995	264	H>R		No	ClinGen TOPMed
rs779673958 CA4191036	267	E>G		No	ClinGen ExAC TOPMed gnomAD
CA367035012 rs1337652865	268	G>E		No	ClinGen TOPMed
rs1189054579 COSM1662843 CA367035013	269	G>R	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	270	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4191038 COSM1088684 rs573903785	271	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs910905758 CA155350943	271	A>V		No	ClinGen Ensembl
rs773530329 CA4191039	272	G>C		No	ClinGen ExAC gnomAD
CA367035136 rs1340903127	284	K>R		No	ClinGen TOPMed
CA155350975 rs553331911	285	A>T		No	ClinGen TOPMed
CA367035231 rs1195402378	291	W>G		No	ClinGen TOPMed gnomAD
CA4191042 rs776996964	293	N>D		No	ClinGen ExAC gnomAD
CA367035271 rs1441827952	293	N>S		No	ClinGen gnomAD
CA155351280 rs77193597	296	P>L		No	ClinGen Ensembl
CA155351285 rs905995637	298	C>F		No	ClinGen TOPMed
CA155351287 rs74679366	299	G>*		No	ClinGen Ensembl
rs1216632346 CA367035437	301	I>V		No	ClinGen TOPMed
TCGA novel	303	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000509216 rs757450051	306	K>missing		No	ClinVar dbSNP
rs757450051	306	K>R	Variant assessed as Somatic; 4.764e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs757450051	307	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA367035568 rs1167703958	309	M>L		No	ClinGen gnomAD
CA367035608 CA367035606 rs1425155233	310	M>I		No	ClinGen TOPMed gnomAD
TCGA novel	311	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1465767789 CA367035664	313	T>I		No	ClinGen gnomAD
rs1227446788 CA367035661	313	T>S		No	ClinGen TOPMed
CA367035667 rs1380323067	314	T>A		No	ClinGen TOPMed
CA367035672 rs1163792266	314	T>I		No	ClinGen gnomAD
CA4191063 rs376233677	315	R>G		No	ClinGen ESP ExAC gnomAD
CA155351292 rs994687873	317	A>S		No	ClinGen TOPMed gnomAD
rs768843987 CA4191083	318	E>D		No	ClinGen ExAC TOPMed
rs1025717353 CA155351303	318	E>K		No	ClinGen Ensembl
CA367036825 rs1290964278	321	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA367036828 rs1381266504	321	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1316721111 CA367036842	322	H>R		No	ClinGen gnomAD
rs1451639163 CA367036929	324	I>L		No	ClinGen Ensembl
CA4191088 rs760500902	326	I>L		No	ClinGen ExAC gnomAD
CA367037252 rs1254861833	333	M>V		No	ClinGen gnomAD
CA4191091 rs759478570	339	K>R		No	ClinGen ExAC gnomAD
rs150328717 CA367037452	340	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752279638 CA4191093	340	T>I		No	ClinGen ExAC TOPMed gnomAD
CA4191092 rs150328717	340	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367037464 rs1225701887	341	L>S		No	ClinGen TOPMed gnomAD
rs1361077616 CA367037486	342	V>I		No	ClinGen gnomAD
CA4191095 rs777458757	343	L>W		No	ClinGen ExAC
CA367037527 rs1429276242	344	I>L		No	ClinGen TOPMed
CA4191096 rs751210941	348	G>R		No	ClinGen ExAC gnomAD
CA4191097 rs756542584	351	R>Q		No	ClinGen ExAC gnomAD
CA367037782 rs1190267878	356	N>K		No	ClinGen TOPMed
rs780624526 CA4191098 COSM4164269	357	R>S	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1450409557 CA367037821	360	V>I		No	ClinGen gnomAD
CA367037843 rs1358424491	361	L>F		No	ClinGen TOPMed
rs1249062597 CA367037852	362	N>S		No	ClinGen TOPMed
CA367037857 rs1372924936	363	P>T		No	ClinGen gnomAD
rs149616663 CA4191100	364	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs199877402 CA367037871	365	R>K		No	ClinGen TOPMed
CA155352607 rs199877402	365	R>T		No	ClinGen TOPMed
rs886565920 CA367037878	366	F>C		No	ClinGen TOPMed
rs886565920 CA155352616	366	F>Y		No	ClinGen TOPMed
CA4191101 rs778820634	367	G>V		No	ClinGen ExAC gnomAD
rs748284611 CA4191102	369	T>M		No	ClinGen ExAC TOPMed gnomAD
rs773456482 CA4191104 COSM1698433	370	V>M	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1377944176 CA367039117	373	T>I		No	ClinGen TOPMed
rs1554315658 CA367039125	375	R>W		No	ClinGen Ensembl
CA367039249 rs1448747776	380	D>G		No	ClinGen TOPMed
rs761519799 CA4191133	382	K>E		No	ClinGen ExAC gnomAD
CA367039310 rs1399953837	383	D>G		No	ClinGen TOPMed
CA367039334 rs1466102865	384	G>D		No	ClinGen TOPMed
CA4191134 rs767302637	385	Q>H		No	ClinGen ExAC gnomAD
rs1322040348 CA367039355	386	A>T		No	ClinGen TOPMed gnomAD
CA367039372 rs1333329843	386	A>V		No	ClinGen gnomAD
rs138961493 CA4191136	388	K>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA367039443 rs371886295	390	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4191137 rs371886295	390	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs753238135 CA4191138	392	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4191139 rs758830491	393	S>C		No	ClinGen ExAC gnomAD
TCGA novel	396	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1256030366 CA367039533	396	E>G		No	ClinGen TOPMed
CA367039544 rs1484269349	397	A>G		No	ClinGen TOPMed
CA367039539 rs1183020074	397	A>T		No	ClinGen TOPMed
CA155358607 rs950148574	398	D>G		No	ClinGen Ensembl
CA367039550 rs1258978854	398	D>H		No	ClinGen TOPMed
TCGA novel	401	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777865648 CA4191140	401	A>T		No	ClinGen ExAC gnomAD
CA4191141 rs751658191	403	K>R		No	ClinGen ExAC TOPMed gnomAD
CA155358627 rs1046353035	405	L>V		No	ClinGen Ensembl
rs1192396787 CA367039736	406	E>Q		No	ClinGen gnomAD
CA367039766 rs1241537851	407	H>R		No	ClinGen gnomAD
rs771214168 CA367039815	409	E>D		No	ClinGen gnomAD
CA4191144 rs746154850	409	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA367039864 rs1393347790	412	G>R		No	ClinGen gnomAD
rs146389261 CA4191147	417	T>N		No	ClinGen ESP ExAC gnomAD
rs146389261 CA367039957	417	T>S		No	ClinGen ESP ExAC gnomAD
TCGA novel	419	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1401287018 CA367039997	420	D>Y		No	ClinGen gnomAD
CA4191148 rs200506910	421	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA4191150 rs768508543	423	L>I		No	ClinGen ExAC gnomAD
CA4191149 rs768508543	423	L>V		No	ClinGen ExAC gnomAD
CA367040067 rs1562663149	424	E>Q		No	ClinGen Ensembl
CA367040082 rs1265711155 COSM227028	425	V>I	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA155358655 rs771751241	427	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	429	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1204439387 CA367040147	430	R>Q		No	ClinGen gnomAD
CA4191153 rs772998856	430	R>W		No	ClinGen ExAC gnomAD
CA4191156 rs74407305	437	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs74407305 CA4191155	437	N>T		No	ClinGen ExAC TOPMed gnomAD
rs763465675 CA4191157	438	P>A		No	ClinGen ExAC TOPMed gnomAD
CA367040445 rs1170027648	440	A>S		No	ClinGen TOPMed
CA4191179 rs774825172	442	K>Q		No	ClinGen ExAC gnomAD
rs1004413439 CA155359453	446	T>I		No	ClinGen TOPMed gnomAD
rs1402451631 CA367040540	446	T>P		No	ClinGen gnomAD
CA4191183 rs756312080	448	E>Q		No	ClinGen ExAC gnomAD
rs1378867904 CA367040621	452	Y>C		No	ClinGen gnomAD
rs1194064514 CA367040654	455	F>L		No	ClinGen TOPMed
rs1469727677 CA367040657	456	I>F		No	ClinGen TOPMed
CA4191186 rs200954257	457	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed
rs1345899967 CA367040688	458	A>G		No	ClinGen TOPMed gnomAD
rs1345899967 CA367040690	458	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA367040703 rs1426707478	459	P>L		No	ClinGen TOPMed gnomAD
CA4191189 rs150641815	459	P>S		No	ClinGen ESP ExAC gnomAD
rs770512027 CA4191192	462	E>G		No	ClinGen ExAC TOPMed gnomAD
COSM1088688 rs1410589833 CA367040771	463	T>M	oesophagus Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs745590581 CA4191194	465	R>C		No	ClinGen ExAC TOPMed gnomAD
rs376370471 CA4191195	465	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA155359503 rs866342170	466	A>V		No	ClinGen TOPMed
rs1402071919 CA367040844	467	M>I		No	ClinGen gnomAD
rs762267178 CA4191198	467	M>L		No	ClinGen ExAC TOPMed gnomAD
rs762267178 CA4191197	467	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1447223159 CA367040859	468	H>R		No	ClinGen gnomAD
rs1584005930 CA367040903	470	A>V		No	ClinGen Ensembl
rs561462920 CA155359512	471	V>L		No	ClinGen 1000Genomes gnomAD
CA367040905 rs561462920	471	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA gnomAD
TCGA novel	472	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1377597683 CA367040960	473	D>V		No	ClinGen gnomAD
CA367041011 rs1227267939	477	T>A		No	ClinGen TOPMed gnomAD
CA367041020 rs1365404504	478	T>A		No	ClinGen TOPMed gnomAD
rs773590524	483	D>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA4191216 rs772468282	483	D>Y		No	ClinGen ExAC gnomAD
CA367042266 rs1385875943	484	S>C		No	ClinGen gnomAD
TCGA novel	485	D>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367042329 rs1446504960	487	K>N		No	ClinGen gnomAD
rs922689377 CA155363303	488	K>E		No	ClinGen TOPMed
rs770861166 CA4191219	491	D>A		No	ClinGen ExAC gnomAD
TCGA novel	492	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776780896 CA4191220	495	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs894818719 CA155363309 COSM3411947	495	R>W	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA367042529 rs1425298570	498	R>I		No	ClinGen gnomAD
TCGA novel	500	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756470854 CA155363321	502	H>Q		No	ClinGen Ensembl
rs1562669696 CA367042640	505	D>E		No	ClinGen Ensembl
CA155363326 rs888330366	506	L>F		No	ClinGen TOPMed
rs1049551707 CA155363324	506	L>M		No	ClinGen TOPMed
CA367042648 rs1296343700	506	L>S		No	ClinGen gnomAD
TCGA novel	509	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753004229 CA4191223	509	I>V		No	ClinGen ExAC gnomAD
rs1475749119 CA367042761	514	D>E		No	ClinGen TOPMed
CA367042768 rs1302454290	515	K>E		No	ClinGen gnomAD
CA4191225 rs764006147	518	E>G		No	ClinGen ExAC gnomAD
TCGA novel	518	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367042909 rs1313974367	521	Q>R		No	ClinGen TOPMed gnomAD
CA155363341 rs887733315	522	T>N		No	ClinGen gnomAD
CA367042954 rs1562669794	523	A>V		No	ClinGen Ensembl
CA4191227 rs757223143	524	I>L		No	ClinGen ExAC TOPMed gnomAD
rs757223143 CA367042957	524	I>V		No	ClinGen ExAC TOPMed gnomAD
rs780527177 CA4191228	528	R>K		No	ClinGen ExAC gnomAD
CA4191229 rs749972521	531	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1488347854 CA367043138	534	V>I		No	ClinGen gnomAD
CA4191231 rs779650765	536	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4191232 rs142149525	537	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367043192 rs142149525	537	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367043194 rs142149525	537	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1357962143 CA367043214	538	W>*		No	ClinGen gnomAD
CA4191234 rs778216285	541	Y>R		No	ClinGen ExAC gnomAD
TCGA novel	541	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q9NZW5

6 regional properties for Q9NZW5

Type	Name	Position	InterPro Accession
binding_site	IQ motif, EF-hand binding site	695 - 724	IPR000048
domain	SH3 domain	1050 - 1107	IPR001452
domain	Myosin head, motor domain	13 - 693	IPR001609
domain	Class I myosin tail homology domain	719 - 922	IPR010926
domain	Unconventional myosin-Ie/If, SH3 domain	1055 - 1106	IPR035507
domain	Class I myosin, motor domain	33 - 679	IPR036072

Functions

		Description
EC Number
Subcellular Localization	Membrane ; Peripheral membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
cell-cell junction	A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
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.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

1 GO annotations of biological process

Name	Definition
protein-containing complex assembly	The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex.

14 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q24210	CASK	Peripheral plasma membrane protein CASK	Drosophila melanogaster (Fruit fly)	SS
Q00013	MPP1	55 kDa erythrocyte membrane protein	Homo sapiens (Human)	PR
O14936	CASK	Peripheral plasma membrane protein CASK	Homo sapiens (Human)	EV
Q14168	MPP2	MAGUK p55 subfamily member 2	Homo sapiens (Human)	PR
Q96JB8	MPP4	MAGUK p55 subfamily member 4	Homo sapiens (Human)	PR
Q9WV34	Mpp2	MAGUK p55 subfamily member 2	Mus musculus (Mouse)	PR
O70589	Cask	Peripheral plasma membrane protein CASK	Mus musculus (Mouse)	SS
P70290	Mpp1	55 kDa erythrocyte membrane protein	Mus musculus (Mouse)	PR
O88910	Mpp3	MAGUK p55 subfamily member 3	Mus musculus (Mouse)	PR
Q6P7F1	Mpp4	MAGUK p55 subfamily member 4	Mus musculus (Mouse)	PR
Q8BVD5	Mpp7	MAGUK p55 subfamily member 7	Mus musculus (Mouse)	PR
Q9JLB0	Pals2	Protein PALS2	Mus musculus (Mouse)	PR
Q9QYH1	Mpp4	MAGUK p55 subfamily member 4	Rattus norvegicus (Rat)	PR
P54936	lin-2	Protein lin-2	Caenorhabditis elegans	SS

10	20	30	40	50	60
MQQVLENLTE	LPSSTGAEEI	DLIFLKGIME	NPIVKSLAKA	HERLEDSKLE	AVSDNNLELV
70	80	90	100	110	120
NEILEDITPL	INVDENVAEL	VGILKEPHFQ	SLLEAHDIVA	SKCYDSPPSS	PEMNNSSINN
130	140	150	160	170	180
QLLPVDAIRI	LGIHKRAGEP	LGVTFRVENN	DLVIARILHG	GMIDRQGLLH	VGDIIKEVNG
190	200	210	220	230	240
HEVGNNPKEL	QELLKNISGS	VTLKILPSYR	DTITPQQVFV	KCHFDYNPYN	DNLIPCKEAG
250	260	270	280	290	300
LKFSKGEILQ	IVNREDPNWW	QASHVKEGGS	AGLIPSQFLE	EKRKAFVRRD	WDNSGPFCGT
310	320	330	340	350	360
ISSKKKKKMM	YLTTRNAEFD	RHEIQIYEEV	AKMPPFQRKT	LVLIGAQGVG	RRSLKNRFIV
370	380	390	400	410	420
LNPTRFGTTV	PFTSRKPRED	EKDGQAYKFV	SRSEMEADIK	AGKYLEHGEY	EGNLYGTKID
430	440	450	460	470	480
SILEVVQTGR	TCILDVNPQA	LKVLRTSEFM	PYVVFIAAPE	LETLRAMHKA	VVDAGITTKL
490	500	510	520	530
LTDSDLKKTV	DESARIQRAY	NHYFDLIIIN	DNLDKAFEKL	QTAIEKLRME	PQWVPISWVY