AiPD: Autoinhibited Protein Database

Q8NBV4

Gene name	PLPP7
Protein name	Inactive phospholipid phosphatase 7
Names	Phosphatidic acid phosphatase type 2 domain-containing protein 3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:84814
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-100 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-100 (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 Q8NBV4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8NBV4-F1	Predicted				AlphaFoldDB

267 variants for Q8NBV4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs112003756 CA200722066	7	R>Q		No	ClinGen gnomAD
rs779109963 CA5290757	7	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA375280028 rs772294395	8	A>P		No	ClinGen ExAC TOPMed gnomAD
CA5290759 rs772294395	8	A>S		No	ClinGen ExAC TOPMed gnomAD
rs773310446 CA5290760	8	A>V		No	ClinGen ExAC gnomAD
CA5290761 rs745616993	9	R>C		No	ClinGen ExAC gnomAD
CA5290762 rs148406586	9	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1169973806 CA375280047	10	A>G		No	ClinGen gnomAD
rs577945128 CA5290764	11	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775330481 CA5290763	11	R>W		No	ClinGen ExAC gnomAD
rs764040842 CA5290765	13	R>C		No	ClinGen ExAC TOPMed gnomAD
CA375280073 rs1349717335	13	R>H		No	ClinGen gnomAD
rs1349717335 CA375280076	13	R>L		No	ClinGen gnomAD
CA5290769 rs750033143	16	V>D		No	ClinGen ExAC TOPMed gnomAD
rs767143760 CA5290768	16	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1276967263 CA375280114	17	L>F		No	ClinGen gnomAD
CA5290771 rs755901734	19	R>G		No	ClinGen ExAC TOPMed gnomAD
rs545266412 CA5290772	19	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5290770 rs755901734	19	R>W		No	ClinGen ExAC TOPMed gnomAD
CA5290773 rs372232128	20	A>G		No	ClinGen ESP ExAC gnomAD
CA375280160 rs1352466613	22	F>L		No	ClinGen TOPMed
rs779591520 CA5290774	26	N>S		No	ClinGen ExAC TOPMed gnomAD
CA375280226 rs1193064040	28	P>A		No	ClinGen gnomAD
rs1263943483 CA375280229	28	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA375280234 rs1476422128	29	P>T		No	ClinGen gnomAD
CA375280254 rs1165801569	30	K>N		No	ClinGen gnomAD
rs777964926 TCGA novel CA375280250	30	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
rs777964926 CA5290777	30	K>T		No	ClinGen ExAC TOPMed gnomAD
CA5290778 rs563480878	31	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779777162 CA375280270	32	G>D		No	ClinGen ExAC TOPMed gnomAD
CA5290780 rs779777162	32	G>V		No	ClinGen ExAC TOPMed gnomAD
CA5290781 rs749113553	33	P>L		No	ClinGen ExAC gnomAD
CA375280301 rs1355125154	35	P>L		No	ClinGen gnomAD
CA375280296 rs1282135827	35	P>T		No	ClinGen gnomAD
CA200722210 rs774170989	36	R>C		No	ClinGen ExAC TOPMed gnomAD
rs774170989 CA5290783	36	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5290784 rs754595818	36	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1351454235 CA375280311	37	S>C		No	ClinGen gnomAD
rs774996972 CA200722212	38	S>L		No	ClinGen TOPMed gnomAD
CA375280335 rs1448882908	39	G>D		No	ClinGen TOPMed gnomAD
CA200722241 rs944802076	39	G>S		No	ClinGen Ensembl
CA5290788 rs766147136	41	K>E		No	ClinGen ExAC gnomAD
CA5290789 rs754212202	41	K>R		No	ClinGen ExAC gnomAD
CA5290790 rs142547455	43	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5290791 rs142547455	43	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	44	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753129266 CA5290792	46	S>T		No	ClinGen ExAC gnomAD
rs1331842509 CA375280401	47	A>S		No	ClinGen TOPMed
rs1159845330 CA375280410	48	Q>*		No	ClinGen gnomAD
rs759010792 CA5290793	49	P>S		No	ClinGen ExAC TOPMed gnomAD
CA200722288 rs375954774	51	P>H		No	ClinGen gnomAD
CA375280444 rs375954774	51	P>L		No	ClinGen gnomAD
rs777683261 CA5290794	53	G>D		No	ClinGen ExAC TOPMed gnomAD
rs141024100 CA5290796	54	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749026819 CA375280477	55	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5290798 rs749026819	55	G>W		No	ClinGen ExAC TOPMed gnomAD
rs768429303 CA5290799	56	A>V		No	ClinGen ExAC gnomAD
TCGA novel	57	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs905072734 CA200722315	59	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5290800 rs778837615	59	R>Q	Variant assessed as Somatic; 4.832e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs748007696 CA5290801	60	R>C		No	ClinGen ExAC gnomAD
rs1198824993 CA375280523	60	R>H		No	ClinGen TOPMed gnomAD
CA375280599 rs1366068179	67	E>D		No	ClinGen gnomAD
rs772544361 CA5290804	67	E>K		No	ClinGen ExAC gnomAD
TCGA novel	67	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5290805 rs760288932	68	E>G		No	ClinGen ExAC gnomAD
CA375280624 rs1170328886	70	C>R		No	ClinGen gnomAD
rs1170328886 CA375280623	70	C>S		No	ClinGen gnomAD
rs943430552 CA200722350	70	C>Y		No	ClinGen TOPMed gnomAD
rs1394784893 CA375280639	71	M>R		No	ClinGen TOPMed
CA375280634 rs1452954761	71	M>V		No	ClinGen TOPMed
rs770639040 CA5290806	72	Q>K		No	ClinGen ExAC gnomAD
CA375280653 rs1338374670	72	Q>R		No	ClinGen gnomAD
CA5290807 rs150279514	73	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs369364978 CA200722355	74	N>K		No	ClinGen ESP ExAC gnomAD
CA375280677 rs1337499678	75	P>A		No	ClinGen TOPMed gnomAD
CA375280679 rs1337499678	75	P>T		No	ClinGen TOPMed gnomAD
rs1324433461 CA375280723	79	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1009308705 CA200722368	80	I>V		No	ClinGen TOPMed gnomAD
CA5290812 rs764693403	81	A>S		No	ClinGen ExAC gnomAD
CA200722375 rs764693403	81	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA375280759 rs1451879669	83	N>D		No	ClinGen gnomAD
CA5290813 rs751572250	84	S>F		No	ClinGen ExAC gnomAD
CA375280805 rs1198834838	88	I>T		No	ClinGen gnomAD
rs1280983294 CA375280799	88	I>V		No	ClinGen TOPMed
rs1480482439 CA375280808	89	D>N		No	ClinGen gnomAD
rs375162854 CA5290816	90	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1588206123 CA375280862	93	S>F		No	ClinGen Ensembl
rs979467963 CA200722398	94	K>E		No	ClinGen Ensembl
CA200722433 rs1033284848	95	R>Q		No	ClinGen TOPMed gnomAD
CA5290819 rs146871462 COSM1106100	95	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA200722443 rs1035244615	97	G>A		No	ClinGen TOPMed
rs1398429355	98	V>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA375280908 rs1588206157	98	V>G		No	ClinGen Ensembl
CA5290821 rs777854197	98	V>L		No	ClinGen ExAC TOPMed gnomAD
CA375280913 rs1588206162	99	C>G		No	ClinGen Ensembl
CA5290822 rs746458261	99	C>Y		No	ClinGen ExAC gnomAD
CA5290824 rs373987134	100	A>S		No	ClinGen ESP ExAC gnomAD
CA5290823 rs373987134	100	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA375280942 rs775678925	102	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5290827 rs775678925	102	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs377760705 CA5290826 COSM3432930 COSM455489	102	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA5290828 rs763380117	103	A>V		No	ClinGen ExAC gnomAD
CA375280960 rs774827397	104	A>E		No	ClinGen ExAC TOPMed gnomAD
COSM132749 CA5290830 rs774827397	104	A>V	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs767555885 CA5290832	106	W>C		No	ClinGen ExAC gnomAD
CA375280972 rs1208048161	106	W>R		No	ClinGen gnomAD
CA375280987 rs750555654	107	A>S		No	ClinGen ExAC TOPMed
CA5290834 rs750555654	107	A>T		No	ClinGen ExAC TOPMed
CA375281004 rs1260463437	108	S>I		No	ClinGen gnomAD
rs1588206213 CA375281008	109	A>T		No	ClinGen Ensembl
rs182951265 CA5290835	110	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766651422 CA5290836	110	R>H		No	ClinGen ExAC TOPMed gnomAD
rs766651422 CA5290837	110	R>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	111	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375281021 rs1275579536	111	S>P		No	ClinGen TOPMed
rs746937123 CA5290840	112	M>I		No	ClinGen ExAC gnomAD
CA5290839 rs150529726	112	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1366136115 CA375281039	113	V>I		No	ClinGen gnomAD
CA375281060 rs1308981861	115	L>I		No	ClinGen TOPMed
CA200722554 rs537234289	116	I>V		No	ClinGen Ensembl
rs780826946 CA5290842	117	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA375281085 rs1361417321	118	I>L		No	ClinGen TOPMed gnomAD
CA200722584 rs368020735	118	I>M		No	ClinGen Ensembl
CA375281086 rs1361417321	118	I>V		No	ClinGen TOPMed gnomAD
CA5290843 rs745405016	119	T>M		No	ClinGen ExAC TOPMed gnomAD
CA375281113 rs1564244764	121	H>Y		No	ClinGen Ensembl
rs1244550532 COSM487142 CA375281127	122	G>D	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA5290848 rs145231730	122	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5290847 rs145231730	122	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1215147250 CA375281159	126	I>V		No	ClinGen gnomAD
CA5290851 rs374862705	127	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA375281195 rs1263423054	130	I>V		No	ClinGen gnomAD
CA200722637 rs930656390	132	C>Y		No	ClinGen TOPMed
rs1182789609 CA375281228	133	L>R		No	ClinGen gnomAD
CA375281255 rs1426288957	136	S>C		No	ClinGen gnomAD
CA200722655 rs939260529	139	L>V		No	ClinGen TOPMed
rs1252834018 CA375281297	140	A>S		No	ClinGen TOPMed
rs763949540 CA5290857	141	G>S		No	ClinGen ExAC TOPMed gnomAD
rs187546020 CA200722661	141	G>V		No	ClinGen 1000Genomes
CA375281310 rs1297455466	142	Q>K		No	ClinGen TOPMed gnomAD
CA5290858 rs751448521	142	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs1391326425 CA375281329	143	E>D		No	ClinGen Ensembl
rs1322300809 CA375281339	144	V>A		No	ClinGen TOPMed
CA375281340 rs1322300809	144	V>G		No	ClinGen TOPMed
CA375281356 rs1230948012	146	M>R		No	ClinGen TOPMed
CA375281350 rs1274930010	146	M>V		No	ClinGen TOPMed
CA200722668 rs937952068	150	L>V		No	ClinGen Ensembl
CA375283852 rs1365545124	157	M>I		No	ClinGen gnomAD
CA5290912 rs781554300	158	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs568627671 CA5290914	161	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149484753 CA5290915	162	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1016233060 CA200733805	164	K>R		No	ClinGen Ensembl
CA375283897 rs1289271009	165	L>F		No	ClinGen TOPMed gnomAD
rs1223198937 CA375283906	166	I>M		No	ClinGen gnomAD
CA375283905 rs1247998044	166	I>T		No	ClinGen TOPMed gnomAD
CA5290917 rs768786082	166	I>V		No	ClinGen ExAC TOPMed gnomAD
CA375283917 rs773022577	168	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5290918 rs773022577	168	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA200733816 rs963332839	168	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs760395583 CA5290919	169	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs554261381 CA5290920	169	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759533456 CA5290922	170	G>S		No	ClinGen ExAC TOPMed gnomAD
rs764692797 CA5290923	171	P>L		No	ClinGen ExAC TOPMed gnomAD
rs764692797 CA375283930	171	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA375283931 rs764692797	171	P>R		No	ClinGen ExAC TOPMed gnomAD
rs923728971 CA200733839	173	E>K		No	ClinGen TOPMed gnomAD
VAR_026646 CA5290926 COSM3750159 rs2966332	174	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1345450231 CA375283956	175	S>I		No	ClinGen gnomAD
CA5290927 rs751883562	175	S>R		No	ClinGen ExAC TOPMed gnomAD
rs757548563 CA5290928	178	L>I		No	ClinGen ExAC gnomAD
rs998088802 CA200733876	178	L>P		No	ClinGen TOPMed gnomAD
rs781669164 CA5290929	179	L>P		No	ClinGen ExAC TOPMed gnomAD
CA5290930 rs781669164	179	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs1588211535 CA375283991	181	Y>S		No	ClinGen Ensembl
CA375284006 rs756736716	183	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1588211539 CA375284005	183	T>P		No	ClinGen Ensembl
CA5290931 rs756736716	183	T>S		No	ClinGen ExAC TOPMed gnomAD
CA375284015 rs1448791716	184	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA200733942 rs889206116	186	I>T		No	ClinGen TOPMed gnomAD
CA375284037 rs139765954	187	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA375284041 rs1242757311	188	A>S		No	ClinGen gnomAD
CA375284039 rs1242757311	188	A>T		No	ClinGen gnomAD
CA375284047 rs1445625090	189	F>L		No	ClinGen gnomAD
CA375284049 rs1185752050	189	F>S		No	ClinGen gnomAD
rs749413322 CA5290934	190	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779021031 CA5290936	191	A>S		No	ClinGen ExAC TOPMed gnomAD
CA5290938 rs770623885	192	G>R		No	ClinGen ExAC TOPMed gnomAD
CA375284071 rs1564249854	193	H>P		No	ClinGen Ensembl
TCGA novel	194	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776448456 CA5290939	194	A>T		No	ClinGen ExAC TOPMed gnomAD
rs759445487 CA5290940	195	S>T		No	ClinGen ExAC gnomAD
rs773433264 CA5290942	196	R>C		No	ClinGen ExAC TOPMed gnomAD
rs143047705 CA5290943	196	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5290945 rs751167931	197	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5290947 rs767973643	198	A>T	Variant assessed as Somatic; 7.741e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1166061490 CA375284101	198	A>V		No	ClinGen TOPMed
CA5290948 rs750838715	199	M>L		No	ClinGen ExAC gnomAD
rs1474835638 CA375284114	200	V>A		No	ClinGen TOPMed
rs201296777 CA200734073	200	V>L		No	ClinGen Ensembl
rs780708268 CA5290950	205	L>F		No	ClinGen ExAC gnomAD
rs997718357 CA200734091	206	S>R		No	ClinGen Ensembl
CA375284169 rs1564249892	208	L>R		No	ClinGen Ensembl
CA5290951 rs368787112	209	V>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	211	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5290953 rs779119780	211	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	212	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1242949386 CA375284196	213	P>L		No	ClinGen TOPMed
CA375284201 rs1439895136	214	L>R		No	ClinGen TOPMed
rs760054266 CA5290958 COSM204265	215	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs769653120 CA5290959	215	R>H		No	ClinGen ExAC TOPMed gnomAD
CA375284205 rs769653120	215	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM214314 rs763014814 CA5290961	216	V>M	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5290962 rs372153261	218	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs773959295 CA5290963	220	L>R		No	ClinGen ExAC gnomAD
rs1339208298 CA375284234	221	W>*		No	ClinGen gnomAD
rs761321190 CA5290965	222	A>S		No	ClinGen ExAC TOPMed gnomAD
rs761321190 CA5290964	222	A>T		No	ClinGen ExAC TOPMed gnomAD
rs145237839 CA5290966	223	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA375284245 rs145237839	223	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1442713160 CA375284251	224	C>R		No	ClinGen TOPMed
rs373301933 CA200734185	224	C>W		No	ClinGen ExAC TOPMed gnomAD
rs766904221 CA5290968	225	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs754232022 CA200734194	228	S>A		No	ClinGen Ensembl
rs1267618639 COSM1737489 CA375284277	229	R>C	central_nervous_system [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA5290969 rs200212708	229	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs755553260 CA375284282	230	V>L		No	ClinGen ExAC TOPMed
CA5290970 rs755553260	230	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs1461309712 CA375284294	231	M>I		No	ClinGen gnomAD
CA5290971 rs778839268	231	M>V		No	ClinGen ExAC gnomAD
rs752847529 CA375284301	232	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1168236977 CA375284299	232	I>T		No	ClinGen TOPMed gnomAD
COSM607952 CA5290973 rs148777558	233	G>S	lung Variant assessed as Somatic; 8.058e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA200734248 rs760050957	234	R>C		No	ClinGen gnomAD
rs1406837172 COSM3745857 CA375284309	234	R>H	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA200734254 rs564547488	235	H>D		No	ClinGen 1000Genomes gnomAD
rs143793064 CA5290975	235	H>R		No	ClinGen ESP ExAC
rs935090894 CA200734288	237	V>I		No	ClinGen TOPMed gnomAD
rs779863410 CA5290978	238	T>A		No	ClinGen ExAC TOPMed gnomAD
rs749157341 CA5290979	238	T>M		No	ClinGen ExAC TOPMed gnomAD
rs749157341 CA375284334	238	T>R		No	ClinGen ExAC TOPMed gnomAD
CA375284339 rs1441425433	239	D>G		No	ClinGen TOPMed
rs146890476 CA5290982	240	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1211053373 CA375284358	242	S>F		No	ClinGen gnomAD
CA5290983 rs771789813	242	S>T		No	ClinGen ExAC gnomAD
CA5290985 rs201563743	243	G>S		No	ClinGen ExAC TOPMed gnomAD
rs759915122 CA5290988	244	F>V		No	ClinGen ExAC TOPMed gnomAD
COSM228516 CA375284386 rs1366039948	247	G>D	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs144456858 CA5290990	247	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5290991 rs758487898	250	Q>H		No	ClinGen ExAC gnomAD
CA5290992 rs764216901	251	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA375284418 rs751749898	252	R>C		No	ClinGen ExAC gnomAD
rs751749898 CA5290993	252	R>G		No	ClinGen ExAC gnomAD
rs757523015 CA5290994	252	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1381130278 CA375284424	253	L>P		No	ClinGen gnomAD
TCGA novel	255	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA375284449 rs1197890090	257	V>A		No	ClinGen TOPMed
CA5290995 rs779664263	258	W>R		No	ClinGen ExAC TOPMed gnomAD
CA200734359 rs897866400	259	M>I		No	ClinGen TOPMed gnomAD
rs1242721680 CA375284460	259	M>L		No	ClinGen TOPMed
rs749137695 CA5290996	260	P>S		No	ClinGen ExAC TOPMed gnomAD
rs778919576 CA5290998	262	S>R		No	ClinGen ExAC TOPMed gnomAD
CA375284488 rs1323948957	263	T>N		No	ClinGen TOPMed
CA200734391 rs1051941831	264	C>F		No	ClinGen gnomAD
rs11244366 VAR_026647 CA200734395	267	L>V		No	ClinGen UniProt Ensembl dbSNP
CA375284542 rs1205412928	271	W>*		No	ClinGen gnomAD
rs1249497690 CA375284550	272	W>G		No	ClinGen gnomAD

No associated diseases with Q8NBV4

1 regional properties for Q8NBV4

Type	Name	Position	InterPro Accession
domain	Phosphatidic acid phosphatase type 2/haloperoxidase	143 - 255	IPR000326

Functions

		Description
EC Number
Subcellular Localization	Nucleus envelope Endoplasmic reticulum membrane Membrane; Multi-pass membrane protein	Both the N- and C-terminal are exposed to the cytoplasm/nucleoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nuclear envelope	The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space).

1 GO annotations of molecular function

Name	Definition
sphingosine-1-phosphate phosphatase activity	Catalysis of the reaction: sphingosine 1-phosphate + H2O = sphingosine + phosphate.

1 GO annotations of biological process

Name	Definition
negative regulation of myotube differentiation	Any process that decreases the frequency, rate or extent of myotube differentiation. Myotube differentiation is the process in which a relatively unspecialized cell acquires specialized features of a myotube cell. Myotubes are multinucleated cells that are formed when proliferating myoblasts exit the cell cycle, differentiate and fuse.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q91WB2	Plpp7	Inactive phospholipid phosphatase 7	Mus musculus (Mouse)	PR
Q5FVJ3	Plpp7	Inactive phospholipid phosphatase 7	Rattus norvegicus (Rat)	PR
Q6P0E8	plpp7	Inactive phospholipid phosphatase 7	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MPASQSRARA	RDRNNVLNRA	EFLSLNQPPK	GGPEPRSSGR	KASGPSAQPP	PAGDGARERR
70	80	90	100	110	120
QSQQLPEEDC	MQLNPSFKGI	AFNSLLAIDI	CMSKRLGVCA	GRAASWASAR	SMVKLIGITG
130	140	150	160	170	180
HGIPWIGGTI	LCLVKSSTLA	GQEVLMNLLL	ALLLDIMTVA	GVQKLIKRRG	PYETSPSLLD
190	200	210	220	230	240
YLTMDIYAFP	AGHASRAAMV	SKFFLSHLVL	AVPLRVLLVL	WALCVGLSRV	MIGRHHVTDV
250	260	270
LSGFVIGYLQ	FRLVELVWMP	SSTCQMLISA	W