AiPD: Autoinhibited Protein Database

Q9H1P3

Gene name	OSBPL2 (KIAA0772, ORP2)
Protein name	Oxysterol-binding protein-related protein 2
Names	ORP-2, OSBP-related protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9885
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-95 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-95 (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 Q9H1P3

Entry ID	Method	Resolution	Chain	Position	Source
5ZM8	X-ray	270 A	A/B	49-480	PDB
AF-Q9H1P3-F1	Predicted				AlphaFoldDB

321 variants for Q9H1P3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000170350 rs786205881	50	R>missing	Autosomal dominant nonsyndromic hearing loss 67 [ClinVar]	Yes	ClinVar dbSNP
RCV000170349 rs786205880	53	Q>missing	Autosomal dominant nonsyndromic hearing loss 67 [ClinVar]	Yes	ClinVar dbSNP
rs1981200603 RCV003135912 RCV001268813	53	Q>missing	Autosomal dominant nonsyndromic hearing loss 67 [ClinVar]	Yes	ClinVar dbSNP
RCV001255991 rs1981202197	60	H>missing	Autosomal dominant nonsyndromic hearing loss 67 [ClinVar]	Yes	ClinVar dbSNP
rs746311450 COSM2153383 CA9938299	3	G>R	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9938300 rs758976090	4	E>D		No	ClinGen ExAC gnomAD
CA409531773 rs1302623539	4	E>K		No	ClinGen TOPMed gnomAD
rs1214101337 CA409531807	6	E>*		No	ClinGen gnomAD
rs1214101337 CA409531803	6	E>K		No	ClinGen gnomAD
rs1220822027 CA409531851	8	F>C		No	ClinGen TOPMed
rs746507998 CA9938302	9	D>G		No	ClinGen ExAC gnomAD
TCGA novel	9	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768095220 CA9938303	10	A>P		No	ClinGen ExAC
CA317232011 rs368282584	11	V>I		No	ClinGen gnomAD
rs747859518 CA9938305	12	T>I		No	ClinGen ExAC gnomAD
rs751939847 CA317235709	14	F>Y		No	ClinGen TOPMed
CA409532783 rs1218243007	15	D>E		No	ClinGen TOPMed gnomAD
CA409532768 rs1353826414	15	D>N		No	ClinGen gnomAD
rs770695347 CA9938327	16	S>F		No	ClinGen ExAC gnomAD
rs1290119458 CA409532879	19	S>C		No	ClinGen gnomAD
rs368593317 CA9938328	20	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1202357119 CA409532919	21	G>A		No	ClinGen gnomAD
rs759404101 CA9938329	23	F>Y		No	ClinGen ExAC gnomAD
CA9938330 rs768714161	24	S>L		No	ClinGen ExAC gnomAD
TCGA novel	24	S>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000842188 CA9938331 rs79783838 RCV000825679	26	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs762078004 CA9938332	28	Q>*		No	ClinGen ExAC gnomAD
CA9938334 rs147046073	30	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs147046073 CA317235772	30	V>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs73143091 CA9938335	31	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA317235788 rs761854625	33	M>T		No	ClinGen Ensembl
CA409533186 rs752050684	34	I>N		No	ClinGen ExAC TOPMed gnomAD
CA9938337 rs752050684	34	I>T		No	ClinGen ExAC TOPMed gnomAD
rs917436743 CA317235795	34	I>V		No	ClinGen TOPMed gnomAD
rs755448935 CA9938338	36	L>F		No	ClinGen ExAC gnomAD
CA317235819 rs149536745	37	D>H		No	ClinGen ESP ExAC
rs149536745 CA9938339	37	D>N		No	ClinGen ESP ExAC
CA409533238 rs1284455886	38	T>A		No	ClinGen gnomAD
CA409533241 rs755658655	38	T>I		No	ClinGen ExAC gnomAD
CA9938341 rs755658655	38	T>N		No	ClinGen ExAC gnomAD
CA317235832 rs994106404	39	S>G		No	ClinGen Ensembl
rs777396003 CA9938342	39	S>N		No	ClinGen ExAC gnomAD
rs1292491749 CA409533252	40	K>R		No	ClinGen TOPMed
TCGA novel	41	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	41	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409533280 rs1485924137	42	N>D		No	ClinGen TOPMed gnomAD
rs770699939 CA9938344	42	N>S		No	ClinGen ExAC gnomAD
CA409533299 rs143116125	43	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA9938345 rs143116125	43	R>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	45	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1276395020 CA409533363	47	T>A		No	ClinGen gnomAD
CA409533392 rs1377755056	49	E>K		No	ClinGen TOPMed
rs1298622487 CA409533433	51	P>S		No	ClinGen TOPMed
CA409533455 rs1352504596	52	S>C		No	ClinGen TOPMed
rs1981200405 RCV001228854	53	Q>R		No	ClinVar dbSNP
rs904809761 CA317235871	54	E>D		No	ClinGen TOPMed
CA317235876 COSM1713759 rs375520271	56	G>R	skin [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
rs1447826524 CA409533537	57	I>M		No	ClinGen gnomAD
rs544149834 CA9938346	58	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA317235905 rs971862201	60	H>Q		No	ClinGen Ensembl
rs772159670 CA9938347	60	H>R		No	ClinGen ExAC TOPMed gnomAD
CA409535013 rs1208138626	62	T>S		No	ClinGen gnomAD
rs761173093 CA9938375	63	S>L		No	ClinGen ExAC TOPMed gnomAD
rs756840696 CA9938378	65	P>L		No	ClinGen ExAC gnomAD
rs1364037320 CA409535394	70	S>G		No	ClinGen gnomAD
CA9938380 rs750158659	70	S>N		No	ClinGen ExAC gnomAD
CA9938382 rs780010928	73	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs146206209 CA409535647	75	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV001731950 CA9938385 RCV000825409 rs777865483	76	V>M		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
TCGA novel	78	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA317238035 rs898306448	80	L>M		No	ClinGen TOPMed
CA317238040 rs201795737	82	K>N		No	ClinGen TOPMed
rs769121564 CA9938413	90	K>T		No	ClinGen ExAC gnomAD
CA317243176 rs1011230331	91	I>F		No	ClinGen TOPMed
CA317243184 rs994772771	92	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs952970865 CA317243212	93	M>K		No	ClinGen TOPMed gnomAD
COSM3770864 CA9938416 COSM3770865 rs766112116	95	I>V	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA409539190 rs767354660	96	A>S		No	ClinGen ExAC gnomAD
rs767354660 CA9938419	96	A>T		No	ClinGen ExAC gnomAD
CA409539267 rs1166761533	98	N>S		No	ClinGen TOPMed
rs985192059 CA317243230	99	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	100	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1028848 CA409539433 rs1462924044	106	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA9938423 rs750479994	111	M>V		No	ClinGen ExAC TOPMed gnomAD
CA9938426 rs747290950	114	V>M		No	ClinGen ExAC TOPMed gnomAD
CA317243250 rs6062179	116	L>F		No	ClinGen Ensembl
rs755242507 CA9938427	118	H>P		No	ClinGen ExAC gnomAD
CA9938428 rs781624842	119	R>G		No	ClinGen ExAC gnomAD
CA409539830 rs1388134336	122	C>R		No	ClinGen gnomAD
RCV000992463 rs770358849 CA9938430	122	C>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA409539833 rs1431602383	122	C>Y		No	ClinGen gnomAD
CA9938431 rs773909049	124	P>L		No	ClinGen ExAC gnomAD
CA409539939 rs748798927	126	P>A		No	ClinGen ExAC TOPMed gnomAD
rs748798927 CA9938432	126	P>S		No	ClinGen ExAC TOPMed gnomAD
CA409539969 rs1222519851	128	E>K		No	ClinGen gnomAD
TCGA novel	129	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770620516 CA9938433	130	M>L		No	ClinGen ExAC gnomAD
CA9938465 rs751689108	132	S>A		No	ClinGen ExAC gnomAD
CA409540601 rs1401508717	133	V>M		No	ClinGen TOPMed
CA9938466 rs755050424	135	A>G		No	ClinGen ExAC gnomAD
rs767753104 CA9938467	139	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9938468 rs752933111	143	S>F		No	ClinGen ExAC gnomAD
CA9938471 rs754350923	144	Q>E		No	ClinGen ExAC gnomAD
rs757872763 CA9938472	144	Q>P		No	ClinGen ExAC gnomAD
CA409540685 rs1601182536	146	E>G		No	ClinGen Ensembl
rs909094863 CA317244012	149	G>R		No	ClinGen TOPMed gnomAD
rs909094863 CA409540702	149	G>S		No	ClinGen TOPMed gnomAD
rs962707389 CA317244013	158	E>K		No	ClinGen TOPMed gnomAD
rs745362050 CA9938474	161	E>*		No	ClinGen ExAC gnomAD
rs374810392 CA9938475	162	L>F		No	ClinGen ESP ExAC gnomAD
CA317247655 rs267606042	164	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	164	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9938490 rs757746225	170	R>S		No	ClinGen ExAC gnomAD
rs779462996 CA9938491	172	I>V		No	ClinGen ExAC TOPMed gnomAD
rs79735057 CA317247670	179	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA317247683 rs1010749695	181	P>A		No	ClinGen gnomAD
rs1020078261 CA409542611	181	P>H		No	ClinGen TOPMed
rs1020078261 CA317247687	181	P>R		No	ClinGen TOPMed
rs780916980	182	I>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs747912454 CA9938499	184	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	184	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9938501 rs773139112	186	H>Q		No	ClinGen ExAC gnomAD
rs1322733367 CA409542665	189	G>D		No	ClinGen TOPMed
rs1385022544 CA409542678	191	N>S		No	ClinGen TOPMed
rs1432276230 CA409542730	193	D>G		No	ClinGen gnomAD
rs775466459 CA9938504	193	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	196	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764391114 CA9938506	197	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1173993305 CA409542926	200	I>T		No	ClinGen TOPMed
rs377525202 CA9938508	200	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1322603965 CA409542937	201	Y>S		No	ClinGen gnomAD
rs750883021 CA409542959	203	K>E		No	ClinGen ExAC TOPMed gnomAD
rs750883021 CA9938510	203	K>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	206	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9938511 rs540567206	208	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201837368 CA9938514	211	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9938513 rs201837368	211	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA409543220 rs1268748941	213	A>T		No	ClinGen gnomAD
rs747860684 CA9938516	213	A>V		No	ClinGen ExAC gnomAD
CA409543267 rs1430975810	214	E>D		No	ClinGen gnomAD
CA409543297 rs1455374173	216	R>*		No	ClinGen gnomAD
CA9938518 rs777454605	216	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs749212869 CA9938519	218	T>A		No	ClinGen ExAC gnomAD
rs550211159 CA9938520	218	T>I		No	ClinGen ExAC TOPMed gnomAD
CA409543469 rs1284891663	224	L>F		No	ClinGen gnomAD
TCGA novel	227	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA409543907 rs1568848084	227	N>I		No	ClinGen Ensembl
CA409544008 rs1407050614	231	T>N		No	ClinGen gnomAD
rs1176021984 CA409543990	231	T>S		No	ClinGen gnomAD
CA409544132 rs1344132730	236	T>I		No	ClinGen gnomAD
CA409544121 rs1601192485	236	T>P		No	ClinGen Ensembl
rs200531495 CA9938544	239	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs773529857 CA9938545	241	N>S		No	ClinGen ExAC gnomAD
rs148766998 CA9938546	242	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs766793194 CA9938547	243	I>V		No	ClinGen ExAC gnomAD
CA409544323 rs1179196570	244	I>N		No	ClinGen TOPMed
rs1382162226 CA409544311	244	I>V		No	ClinGen TOPMed
COSM1260683 CA409544338 rs1323712852	245	G>R	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA409544516 rs1187075906	252	Y>*		No	ClinGen gnomAD
rs760062849 CA9938549	252	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA409544583 rs1601192603	255	V>G		No	ClinGen Ensembl
rs1198351791 CA409544599	256	E>G		No	ClinGen gnomAD
rs1192760438 CA409544619	257	I>T		No	ClinGen TOPMed
CA409545785 rs1356630725	262	T>A		No	ClinGen gnomAD
rs1245222924 CA409545828	264	H>D		No	ClinGen gnomAD
RCV000840101 CA9938571 rs146042452 RCV000825682	264	H>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs773373253 CA317249503	267	V>A		No	ClinGen Ensembl
rs1490789352 CA409545899	267	V>M		No	ClinGen gnomAD
rs753374650 CA9938572	268	L>F		No	ClinGen ExAC gnomAD
CA409545921 rs1426239190	268	L>P		No	ClinGen TOPMed
CA317249511 rs868651668	271	K>R		No	ClinGen Ensembl
CA409546022 rs1162068043	272	P>L		No	ClinGen TOPMed
CA409546085 rs1418839326	275	L>S		No	ClinGen TOPMed
rs1179152551 CA409546138	278	K>E		No	ClinGen gnomAD
rs199648498 CA9938575 RCV000594541	278	K>R		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs758316347 CA9938576	280	L>F		No	ClinGen ExAC TOPMed gnomAD
CA409546246 rs1408587444	282	K>E		No	ClinGen gnomAD
CA409546333 rs1355475335	286	H>Y		No	ClinGen gnomAD
CA9938580 rs777918035	287	I>V		No	ClinGen ExAC gnomAD
rs545890696 CA317251107	294	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs545890696 CA9938605	294	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9938606 rs151042102	294	K>R		No	ClinGen ESP ExAC gnomAD
rs564475641 CA9938607	296	F>V		No	ClinGen 1000Genomes ExAC gnomAD
CA317251114 rs1041679644	297	M>R		No	ClinGen TOPMed
rs1429021165 CA409547851	297	M>V		No	ClinGen gnomAD
CA9938608 COSM1412906 rs747646279	298	I>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs769492031 CA409547969	303	T>K		No	ClinGen ExAC TOPMed gnomAD
CA9938609 rs769492031	303	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA409547973 rs769492031	303	T>R		No	ClinGen ExAC TOPMed gnomAD
CA9938613 rs774168607	307	W>*		No	ClinGen ExAC gnomAD
CA9938614 rs759302307	309	I>M		No	ClinGen ExAC gnomAD
rs767479191 CA9938615	310	D>G		No	ClinGen ExAC gnomAD
CA409548109 rs1348676461	311	P>A		No	ClinGen gnomAD
rs757263045 CA9938617	313	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA409548165 rs1475424199	314	Y>C		No	ClinGen TOPMed
rs750594907 CA9938619	317	F>S		No	ClinGen ExAC gnomAD
rs758678404 CA9938620	318	K>R		No	ClinGen ExAC TOPMed gnomAD
CA317251153 rs941054661	320	Q>*		No	ClinGen TOPMed gnomAD
CA409548270 rs941054661	320	Q>E		No	ClinGen TOPMed gnomAD
rs780178594 CA9938621	321	E>*		No	ClinGen ExAC gnomAD
rs1017947289 CA317251154	322	R>K		No	ClinGen Ensembl
rs747377321 CA9938622	324	G>S		No	ClinGen ExAC gnomAD
rs1157412808 CA409548375	326	H>R		No	ClinGen gnomAD
CA9938624 rs372783850	328	R>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9938623 rs372783850	328	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA409548426 rs1421504141	329	K>M		No	ClinGen gnomAD
rs1421504141 CA409548425	329	K>R		No	ClinGen gnomAD
rs748666263 CA9938625	330	A>T		No	ClinGen ExAC gnomAD
rs1364778758 CA409548467	331	K>R		No	ClinGen gnomAD
CA9938627 rs772867550	332	L>M		No	ClinGen ExAC gnomAD
rs768506145 CA9938672	333	D>G		No	ClinGen ExAC gnomAD
CA9938673 rs776484364	335	D>G		No	ClinGen ExAC gnomAD
CA409517691 rs1282196549	336	S>A		No	ClinGen gnomAD
CA409517696 rs1312286915	336	S>F		No	ClinGen gnomAD
CA409517690 rs1282196549	336	S>P		No	ClinGen gnomAD
rs548362813 CA9938675	337	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA317198739 rs1029200525	339	A>D		No	ClinGen TOPMed
CA317198737 rs978799339	339	A>S		No	ClinGen TOPMed gnomAD
CA9938676 rs774322669	340	D>Y		No	ClinGen ExAC gnomAD
CA9938677 rs759698256	341	S>C		No	ClinGen ExAC gnomAD
RCV001289041 rs759698256	341	S>G		No	ClinVar dbSNP
CA9938679 rs775923107	342	D>N		No	ClinGen ExAC TOPMed gnomAD
CA409517802 rs200992668	345	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409517799 rs1156931348	345	D>G		No	ClinGen gnomAD
COSM578296 rs754323214 CA9938683	346	D>N	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA9938685 rs765815618	347	V>M		No	ClinGen ExAC gnomAD
rs749879859 CA9938686	348	P>L		No	ClinGen ExAC gnomAD
CA9938687 rs757960108	349	V>M		No	ClinGen ExAC TOPMed gnomAD
rs780868195 CA9938691	354	V>A		No	ClinGen ExAC gnomAD
CA9938690 rs550176681	354	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9938692 rs748074094	355	Q>H		No	ClinGen ExAC gnomAD
CA409517905 rs1240838416	355	Q>P		No	ClinGen gnomAD
rs1240838416 CA409517907	355	Q>R		No	ClinGen gnomAD
CA9938693 rs769585741	358	P>S		No	ClinGen ExAC
rs369775494 CA317198883	359	G>A		No	ClinGen ESP
rs1221388705 CA409517975	361	K>E		No	ClinGen gnomAD
rs773247352 CA9938694	361	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1175692416 CA409518064	364	W>C		No	ClinGen gnomAD
rs775800400 CA9938697	369	R>W		No	ClinGen ExAC gnomAD
rs1160994506 CA409518186	371	P>L		No	ClinGen gnomAD
rs761000829 CA409518207	372	N>I		No	ClinGen ExAC TOPMed gnomAD
CA9938699 rs761000829	372	N>S		No	ClinGen ExAC TOPMed gnomAD
CA9938698 rs761000829	372	N>T		No	ClinGen ExAC TOPMed gnomAD
CA9938700 rs776832763	374	A>G		No	ClinGen ExAC gnomAD
rs1218147852 CA409518274	375	Q>H		No	ClinGen TOPMed
rs1427656078 CA409520327	376	M>I		No	ClinGen TOPMed
rs941177876 CA317200901	376	M>V		No	ClinGen TOPMed
rs751034231 CA9938725	380	T>A		No	ClinGen ExAC gnomAD
CA317200935 rs200778851	384	V>A		No	ClinGen Ensembl
rs186761985 CA9938727	384	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1477978395 CA409520476	387	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9938730 rs777649147	391	T>I		No	ClinGen ExAC TOPMed gnomAD
CA9938731 rs753787827 COSM174991	392	G>D	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA9938732 rs757230765	393	M>T		No	ClinGen ExAC gnomAD
rs1360754917 CA409520536	393	M>V		No	ClinGen gnomAD
rs375485811 CA317200953	396	T>N		No	ClinGen ESP
CA409520577 rs1601202786	396	T>P		No	ClinGen Ensembl
CA409520653 rs1220735014	403	R>C		No	ClinGen gnomAD
rs369486855 CA9938735	403	R>H		No	ClinGen ESP ExAC TOPMed
CA317200977 rs868121294	404	L>P		No	ClinGen Ensembl
rs1201053144 CA409520687	406	P>L		No	ClinGen gnomAD
rs748415235 CA9938737	406	P>S		No	ClinGen ExAC gnomAD
CA9938739 rs773593916	409	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1216507083 CA409520722	409	R>H		No	ClinGen gnomAD
rs773593916 CA409520718	409	R>S		No	ClinGen ExAC TOPMed gnomAD
rs143858748 CA409520729	410	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs143858748 CA9938741	410	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA409520761 rs1195444649	412	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA409520771 rs1375507989	413	N>S		No	ClinGen gnomAD
CA409520777 rs1292988860	414	G>S		No	ClinGen TOPMed
CA409520795 rs1172721823	415	N>K		No	ClinGen gnomAD
rs1426645697 CA409520812 CA409520809	416	M>I		No	ClinGen gnomAD
CA317200984 rs904285686	416	M>T		No	ClinGen Ensembl
rs1265270829 CA409522108	418	L>V		No	ClinGen gnomAD
rs775034359 CA9938765	420	S>G		No	ClinGen ExAC gnomAD
rs1253751022 CA409522179	422	E>Q		No	ClinGen TOPMed
rs1456073030 CA409522213	424	E>A		No	ClinGen gnomAD
CA409522219 rs776496055	425	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9938769 rs761632270	425	R>Q		No	ClinGen ExAC gnomAD
rs776496055 CA9938768	425	R>W		No	ClinGen ExAC TOPMed gnomAD
CA9938770 rs200188095	427	E>G		No	ClinGen ExAC gnomAD
CA9938771 rs750336253	428	E>G		No	ClinGen ExAC TOPMed gnomAD
CA9938772 rs758391641	430	Q>H		No	ClinGen ExAC
rs148198284 CA9938773	432	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA409522325 rs1412748123	432	E>K		No	ClinGen gnomAD
rs752796549 CA9938775	434	R>G		No	ClinGen ExAC TOPMed gnomAD
rs777965251 CA409522375	434	R>L		No	ClinGen ExAC gnomAD
rs777965251 CA9938776	434	R>Q		No	ClinGen ExAC gnomAD
rs752796549 CA9938774	434	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1465289383 CA409522407	436	E>Q		No	ClinGen gnomAD
CA409522433 rs1379171340	437	R>Q		No	ClinGen gnomAD
rs749528219 CA9938777	437	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA409522476 rs1237547420	439	K>E		No	ClinGen TOPMed
rs1451162164 CA409522495	440	E>K		No	ClinGen gnomAD
CA9938778 rs560977879	441	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9938779 rs779284816	442	A>T		No	ClinGen ExAC gnomAD
CA409522552 rs1285608037	442	A>V		No	ClinGen TOPMed gnomAD
rs746263705 CA9938781	445	Q>E		No	ClinGen ExAC TOPMed
rs141170235 CA9938782	445	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1291158471 CA409522639	446	T>M		No	ClinGen TOPMed
rs761939265 CA9938815	451	P>R		No	ClinGen ExAC gnomAD
TCGA novel	455	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1222756374 CA409523562	456	Y>H		No	ClinGen gnomAD
rs758733530 CA317204799	459	T>I		No	ClinGen ExAC TOPMed gnomAD
CA9938818 rs758733530	459	T>N		No	ClinGen ExAC TOPMed gnomAD
CA9938820 rs752064789	460	P>L		No	ClinGen ExAC gnomAD
rs781776917 CA9938822	461	D>E		No	ClinGen ExAC gnomAD
rs370609897 CA409523643	461	D>N		No	ClinGen ESP TOPMed gnomAD
rs1298433831	461	D>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs370609897 CA317204873	461	D>Y		No	ClinGen ESP TOPMed gnomAD
CA409523759 rs1302177770	465	A>V		No	ClinGen TOPMed
rs769492018 CA9938824	470	E>K		No	ClinGen ExAC gnomAD
rs748904630 CA9938826	471	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs374024313 CA9938825	471	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA317204940 rs773989272	475	D>H		No	ClinGen ExAC TOPMed gnomAD
CA9938828 rs773989272	475	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1434930499 CA409523949	478	D>G		No	ClinGen gnomAD
TCGA novel	478	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1380150867 CA409523962	479	I>T		No	ClinGen TOPMed gnomAD
rs759380038 CA9938829	479	I>V		No	ClinGen ExAC gnomAD
rs1348473217 CA409523983	481	Y>R		No	ClinGen gnomAD

1 associated diseases with Q9H1P3

[MIM: 616340]: Deafness, autosomal dominant, 67 (DFNA67)

A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:25077649, ECO:0000269|PubMed:25759012, ECO:0000269|PubMed:30894143}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:25077649, ECO:0000269|PubMed:25759012, ECO:0000269|PubMed:30894143}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for Q9H1P3

Type	Name	Position	InterPro Accession
conserved_site	Oxysterol-binding protein, conserved site	174 - 184	IPR018494

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytosol Lipid droplet Cell membrane ; Peripheral membrane protein ; Cytoplasmic side	Detected on the surface of cytosolic lipid droplets (PubMed:19224871) Recruited to the cell membrane by phosphatidylinositol-phosphate binding (PubMed:30581148)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extrinsic component of cytoplasmic side of plasma membrane	The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
lipid droplet	An intracellular non-membrane-bounded organelle comprising a matrix of coalesced lipids surrounded by a phospholipid monolayer. May include associated proteins.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

6 GO annotations of molecular function

Name	Definition
cholesterol binding	Binding to cholesterol (cholest-5-en-3-beta-ol); the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones.
cholesterol transfer activity	Removes cholesterol from a membrane or a monolayer lipid particle, transports it through the aqueous phase while protected in a hydrophobic pocket, and brings it to an acceptor membrane or lipid particle.
phosphatidylinositol transfer activity	Removes phosphatidylinositol from a membrane or a monolayer lipid particle, transports it through the aqueous phase while protected in a hydrophobic pocket, and brings it to an acceptor membrane or lipid particle.
phosphatidylinositol-4,5-bisphosphate binding	Binding to phosphatidylinositol-4,5-bisphosphate, a derivative of phosphatidylinositol in which the inositol ring is phosphorylated at the 4' and 5' positions.
sterol binding	Binding to a sterol, a steroid containing a hydroxy group in the 3 position, closely related to cholestan-3-ol.
sterol transporter activity	Enables the directed movement of sterols into, out of or within a cell, or between cells. Sterol are steroids with one or more hydroxyl groups and a hydrocarbon side-chain in the molecule.

6 GO annotations of biological process

Name	Definition
bile acid biosynthetic process	The chemical reactions and pathways resulting in the formation of bile acids, any of a group of steroid carboxylic acids occurring in bile.
cholesterol transport	The directed movement of cholesterol, cholest-5-en-3-beta-ol, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
intracellular cholesterol transport	The directed movement of cholesterol, cholest-5-en-3-beta-ol, within cells.
phospholipid transport	The directed movement of phospholipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Phospholipids are any lipids containing phosphoric acid as a mono- or diester.
plasma membrane organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the plasma membrane.
protein homotetramerization	The formation of a protein homotetramer, a macromolecular structure consisting of four noncovalently associated identical subunits.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9BZF1	OSBPL8	Oxysterol-binding protein-related protein 8	Homo sapiens (Human)	PR
Q9H0X9	OSBPL5	Oxysterol-binding protein-related protein 5	Homo sapiens (Human)	PR
Q969R2	OSBP2	Oxysterol-binding protein 2	Homo sapiens (Human)	PR
P22059	OSBP	Oxysterol-binding protein 1	Homo sapiens (Human)	PR
Q8BX94	Osbpl2	Oxysterol-binding protein-related protein 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MNGEEEFFDA	VTGFDSDNSS	GEFSEANQKV	TGMIDLDTSK	NNRIGKTGER	PSQENGIQKH
70	80	90	100	110	120
RTSLPAPMFS	RSDFSVWTIL	KKCVGLELSK	ITMPIAFNEP	LSFLQRITEY	MEHVYLIHRA
130	140	150	160	170	180
SCQPQPLERM	QSVAAFAVSA	VASQWERTGK	PFNPLLGETY	ELIREDLGFR	FISEQVSHHP
190	200	210	220	230	240
PISAFHSEGL	NHDFLFHGSI	YPKLKFWGKS	VEAEPRGTIT	LELLKHNEAY	TWTNPTCCVH
250	260	270	280	290	300
NVIIGKLWIE	QYGTVEILNH	RTGHKCVLHF	KPCGLFGKEL	HKVEGHIQDK	NKKKLFMIYG
310	320	330	340	350	360
KWTECLWGID	PVSYESFKKQ	ERRGDHLRKA	KLDEDSGKAD	SDVADDVPVA	QETVQVIPGS
370	380	390	400	410	420
KLLWRINTRP	PNSAQMYNFT	SFTVSLNELE	TGMEKTLPPT	DCRLRPDIRG	MENGNMDLAS
430	440	450	460	470
QEKERLEEKQ	REARRERAKE	EAEWQTRWFY	PGNNPYTGTP	DWLYAGDYFE	RNFSDCPDIY