AiPD: Autoinhibited Protein Database

Q8NEX9

Gene name	SDR9C7 (RDHS, SDRO)
Protein name	Short-chain dehydrogenase/reductase family 9C member 7
Names	Orphan short-chain dehydrogenase/reductase, SDR-O, RDH-S
Species	Homo sapiens (Human)
KEGG Pathway	hsa:121214
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

33-105 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

33-105 (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 Q8NEX9

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8NEX9-F1	Predicted				AlphaFoldDB

267 variants for Q8NEX9

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA385387303 RCV000782399 rs764593071 CA6638263	38	G>R	Congenital ichthyosis of skin [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM1705825 rs530109812 RCV000495852 VAR_079292 CA6638230	72	R>W	Ichthyosis, congenital, autosomal recessive 13 Variant assessed as Somatic; 0.0 impact. skin ARCI13; decreased protein abundance [ClinVar, NCI-TCGA, Cosmic, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA385385524 RCV000782400 rs538068583	119	E>K	Variant assessed as Somatic; 0.0 impact. Congenital ichthyosis of skin [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD
RCV001008179 rs760309815 RCV000624722	122	T>missing	Ichthyosis, congenital, autosomal recessive 13 [ClinVar]	Yes	ClinVar dbSNP
RCV000995866 CA6638140 RCV001092490 rs138435128	184	D>G	Ichthyosis, congenital, autosomal recessive 13 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6638108 RCV000495845 VAR_079293 RCV001805113 rs770729222	200	I>T	Ichthyosis, congenital, autosomal recessive 13 ARCI13; decreased protein abundance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV002269290 RCV000578258 rs774363396 CA6638094 RCV000782401	220	R>*	Ichthyosis, congenital, autosomal recessive 13 Variant assessed as Somatic; 0.0 impact. Congenital ichthyosis of skin [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000521184 rs749359344	1	M>V		No	ClinVar dbSNP
rs777876093 CA6638284 COSM1512580	2	A>V	lung central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs748081726 CA6638282	3	A>D		No	ClinGen ExAC gnomAD
rs368713011 CA237708585	6	D>N		No	ClinGen ESP
CA6638281 rs781197553	6	D>V		No	ClinGen ExAC gnomAD
rs1370306208 CA385387490	10	M>T		No	ClinGen TOPMed
rs1381002955 CA385387481	11	Y>C		No	ClinGen TOPMed
rs754821182 CA6638280	12	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6638279 rs751354444	12	R>H		No	ClinGen ExAC TOPMed gnomAD
CA385387455 rs1270819661	15	K>Q		No	ClinGen TOPMed
TCGA novel	15	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385387447 rs1160189138	16	N>D		No	ClinGen gnomAD
rs1480242619 CA385387435	17	C>F		No	ClinGen gnomAD
rs749953357 CA6638276	18	N>S		No	ClinGen ExAC TOPMed gnomAD
CA385387430 rs1379792462	18	N>Y		No	ClinGen gnomAD
CA6638274 rs761238535	19	L>P		No	ClinGen ExAC gnomAD
CA6638275 rs74397593	19	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6638271 rs759915727	20	V>F		No	ClinGen ExAC gnomAD
CA6638272 rs759915727	20	V>I		No	ClinGen ExAC gnomAD
CA385387409 rs1239232922	22	N>S		No	ClinGen gnomAD
CA6638269 rs771098164	23	L>F		No	ClinGen ExAC gnomAD
rs763212533 CA6638268	26	K>N		No	ClinGen ExAC gnomAD
CA385387368 rs1565614481	28	V>G		No	ClinGen Ensembl
rs778481010 CA6638266	28	V>I		No	ClinGen ExAC TOPMed gnomAD
CA385387370 rs778481010	28	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	30	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1333465593 CA385387348	31	T>A		No	ClinGen TOPMed gnomAD
rs748169493 CA6638265	32	G>D		No	ClinGen ExAC TOPMed gnomAD
CA385387340 rs748169493	32	G>V		No	ClinGen ExAC TOPMed gnomAD
CA385387292 CA6638260 rs534622617	39	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201364501 CA6638258	42	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1445213817 CA385387273	43	K>T		No	ClinGen TOPMed gnomAD
rs373371562 CA6638256 CA6638257	44	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs768042533 CA6638254	47	D>G		No	ClinGen ExAC gnomAD
rs760003577 CA385387244	48	R>G		No	ClinGen ExAC TOPMed gnomAD
CA385387242 rs751917282	48	R>L		No	ClinGen ExAC TOPMed gnomAD
rs751917282 CA6638252	48	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6638253 rs760003577	48	R>W	Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6638250 rs763148682	49	G>A		No	ClinGen ExAC gnomAD
CA6638251 rs766751529	49	G>S		No	ClinGen ExAC gnomAD
CA6638247 rs375516495	50	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA237708379 rs563149219	51	Q>R		No	ClinGen Ensembl
TCGA novel	55	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385387183 rs1314607391	58	T>A		No	ClinGen TOPMed
CA6638243 rs776823460	58	T>I		No	ClinGen ExAC gnomAD
rs1565614423 CA385387178	59	E>K		No	ClinGen Ensembl
CA6638241 rs147708476	61	G>E		No	ClinGen ESP ExAC TOPMed
CA6638242 rs768766586	61	G>R		No	ClinGen ExAC gnomAD
rs771905869 CA6638239	62	S>Y		No	ClinGen ExAC gnomAD
CA6638237 rs778560599	63	Q>R		No	ClinGen ExAC
rs145462718 CA6638235	66	Q>*		No	ClinGen ESP ExAC gnomAD
rs145462718 CA6638236	66	Q>E		No	ClinGen ESP ExAC gnomAD
CA385387130 rs1239426791	66	Q>R		No	ClinGen TOPMed gnomAD
rs140482532 CA6638233	67	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6638234 rs371673072	67	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	68	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1472616136 CA385387120	68	D>G		No	ClinGen TOPMed
rs752099380 CA6638232	68	D>H		No	ClinGen ExAC gnomAD
CA385387116 rs1592425172	69	T>P		No	ClinGen Ensembl
rs1182661898 CA385387108	70	S>A		No	ClinGen TOPMed
TCGA novel	70	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6638231 rs766726173	71	Y>C		No	ClinGen ExAC gnomAD
rs61743538 CA6638229	72	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762106608 CA6638227	74	Q>E		No	ClinGen ExAC gnomAD
TCGA novel	75	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6638226 rs776913468	77	L>P		No	ClinGen ExAC
rs1245683003 CA385387058	79	D>A		No	ClinGen gnomAD
CA6638224 rs760606036	81	T>A		No	ClinGen ExAC gnomAD
rs754632093 CA6638222	84	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	85	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1398536281 CA385387016	85	S>N		No	ClinGen gnomAD
rs774100146 CA385386993	88	A>E		No	ClinGen ExAC TOPMed gnomAD
rs774100146 CA6638220	88	A>V		No	ClinGen ExAC TOPMed gnomAD
rs374434836 CA6638218	89	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs747549702 CA385386984	90	A>D		No	ClinGen ExAC TOPMed gnomAD
CA6638216 rs755650924	90	A>T		No	ClinGen ExAC TOPMed gnomAD
rs747549702 CA6638215	90	A>V		No	ClinGen ExAC TOPMed gnomAD
CA385386956 rs1355703574	94	R>K		No	ClinGen TOPMed
CA6638214 rs780631575	95	D>N		No	ClinGen ExAC gnomAD
rs1357966684 CA385386919	99	E>D		No	ClinGen TOPMed gnomAD
CA237708149 rs374817950	99	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs1178066197 CA385385809	102	L>P		No	ClinGen TOPMed
CA385385782 rs1441151450	103	W>*		No	ClinGen TOPMed
rs1048980159 CA237705813	105	L>Q		No	ClinGen gnomAD
rs923496708 CA237705811	106	V>L		No	ClinGen TOPMed
CA385385666 rs1192222106	109	A>V		No	ClinGen gnomAD
CA385385657 rs751502183	110	G>A		No	ClinGen ExAC TOPMed gnomAD
CA6638185 rs751502183	110	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1262802313 CA385385571	116	G>C		No	ClinGen gnomAD
rs772840562 CA6638182	118	N>D		No	ClinGen ExAC gnomAD
rs373685313 CA6638180	118	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6638181 rs769523649	118	N>S		No	ClinGen ExAC gnomAD
CA6638178 rs538068583	119	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs779585292 CA6638175	124	D>N		No	ClinGen ExAC gnomAD
rs910306940 CA237705739	124	D>V		No	ClinGen gnomAD
rs771526305 CA6638174	127	V>L		No	ClinGen ExAC gnomAD
rs749712425 CA6638173	128	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1592423738 CA385385336	129	V>G		No	ClinGen Ensembl
rs946880924 CA237705720	129	V>L		No	ClinGen gnomAD
CA6638172 rs199715704	132	V>A		No	ClinGen ExAC TOPMed gnomAD
CA385385294 rs1176198408	132	V>M		No	ClinGen TOPMed gnomAD
rs574035876 CA6638171	133	N>I		No	ClinGen 1000Genomes ExAC gnomAD
CA6638170 rs140873692	135	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781408150 CA6638169	136	G>R		No	ClinGen ExAC gnomAD
rs751586470 CA6638168	138	I>M		No	ClinGen ExAC TOPMed gnomAD
CA6638166 rs142269600 COSM941825	139	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA6638165 rs142269600	139	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA6638163 rs764939633	140	V>M		No	ClinGen ExAC
CA385385150 rs1483863827	142	L>V		No	ClinGen TOPMed
CA385385114 rs1196767570	144	M>V		No	ClinGen TOPMed
CA237705662 rs749089108	146	P>R		No	ClinGen Ensembl
CA237705652 rs543021962	147	M>L		No	ClinGen Ensembl
rs1267565144 CA385385062	147	M>T		No	ClinGen TOPMed
rs1306813030 CA385385039	148	V>G		No	ClinGen gnomAD
CA6638162 rs761606498	148	V>I		No	ClinGen ExAC
rs148703770 CA6638161	150	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6638159 rs760293144	152	R>Q		No	ClinGen ExAC gnomAD
COSM1177726 rs763791573 CA6638160	152	R>W	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6638158 CA385384879 rs146031860	158	M>I		No	ClinGen ESP ExAC gnomAD
rs1449966163 CA385384885	158	M>T		No	ClinGen gnomAD
CA385384798 rs1461084571	163	G>A		No	ClinGen gnomAD
rs771616365 CA6638157	164	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6638156 rs749798308	164	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1592423640 CA385384739	167	V>G		No	ClinGen Ensembl
rs200612676 CA6638153	167	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6638151 rs755149984	168	I>T		No	ClinGen ExAC TOPMed gnomAD
rs147751323 CA6638152	168	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA237705555 rs369016536	169	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA237705575 rs758421301	169	G>C		No	ClinGen Ensembl
CA6638150 rs369016536	169	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs139321947 CA237705538	173	C>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750335193 CA6638147	174	V>A		No	ClinGen ExAC gnomAD
rs142957654 CA6638148	174	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA385384607 rs1368578664	176	K>R		No	ClinGen gnomAD
rs757025547 CA6638145	177	F>S		No	ClinGen ExAC gnomAD
CA237705487 rs200344172	179	V>A		No	ClinGen ExAC
rs200344172 CA6638142	179	V>D		No	ClinGen ExAC
rs373500587 CA6638143	179	V>I	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA385384532 rs1490405392	181	A>T		No	ClinGen TOPMed
rs767129286 CA6638139	185	S>I		No	ClinGen ExAC gnomAD
rs759018981 CA6638138	186	I>L		No	ClinGen ExAC gnomAD
rs773605193 CA6638137	187	R>K		No	ClinGen ExAC gnomAD
rs150520393 COSM431545 CA6638116	188	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA6638115 rs141626978 COSM1363187	188	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA385384208 rs150520393	188	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745975241 CA6638112	189	E>A		No	ClinGen ExAC gnomAD
rs772298217 CA6638113	189	E>K		No	ClinGen ExAC TOPMed gnomAD
rs973252468 CA237704836	190	L>I		No	ClinGen Ensembl
rs770834103 CA6638110	191	Y>N		No	ClinGen ExAC gnomAD
CA6638109 rs749230976	192	Y>C		No	ClinGen ExAC gnomAD
CA385384069 rs1267743089	193	F>L		No	ClinGen TOPMed gnomAD
rs1267582676 CA385384081	193	F>S		No	ClinGen TOPMed
CA385384062 rs1204380225	194	G>R		No	ClinGen gnomAD
rs1463242168 CA385384008	197	V>F		No	ClinGen gnomAD
rs1269697560 CA385383994	198	C>Y		No	ClinGen gnomAD
CA385383979 rs1208791510	199	I>T		No	ClinGen TOPMed gnomAD
rs1280812585 CA385383953	201	E>K		No	ClinGen gnomAD
rs371558575 CA6638107	202	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs781018938 CA6638105	205	Y>H		No	ClinGen ExAC gnomAD
rs201094660 CA6638103 COSM1628734	206	R>Q	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6638104 rs754623598	206	R>W		No	ClinGen ExAC TOPMed gnomAD
CA385383845 rs1592423206	207	T>P		No	ClinGen Ensembl
CA6638102 rs765897532	207	T>R		No	ClinGen ExAC gnomAD
CA6638101 rs762306101	208	A>P		No	ClinGen ExAC TOPMed gnomAD
rs761062642 CA6638098	211	G>S		No	ClinGen ExAC TOPMed gnomAD
rs775800915 CA6638097	212	K>N		No	ClinGen ExAC gnomAD
CA385383696 rs1565613488	215	L>P		No	ClinGen Ensembl
CA237704727 rs1044034643	216	E>Q		No	ClinGen TOPMed
CA6638096 rs760203041	218	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA385383638 rs1249676819	218	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA385383635 rs1249676819	218	R>P		No	ClinGen TOPMed gnomAD
rs759791848 CA6638095	219	M>T		No	ClinGen ExAC TOPMed gnomAD
rs77590816 CA385383591	220	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs77590816 CA6638093 RCV000962265	220	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs975913023 CA237704679	221	K>E		No	ClinGen TOPMed
TCGA novel	223	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1261765375 CA385383492	225	R>G		No	ClinGen TOPMed
rs957968799 CA237704677	225	R>S		No	ClinGen gnomAD
rs749322568 CA385383465	227	P>A		No	ClinGen ExAC TOPMed gnomAD
CA6638092 rs749322568	227	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA385383442 rs1367726828	228	Q>*		No	ClinGen gnomAD
rs202221198 CA385383432	228	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs202221198 CA6638090	228	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA6638089 rs376708384	230	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs75997315 CA6638087	231	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000957084 rs75997315 CA6638086	231	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6638088 rs540839114	231	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1592423111 CA385383349	232	D>G		No	ClinGen Ensembl
CA6638085 rs779518565	232	D>H		No	ClinGen ExAC gnomAD
rs147081896 CA237704646	234	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs756591404 CA6638081	235	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs369602151 CA6638082	235	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	236	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1592423090 CA385383252	236	E>A		No	ClinGen Ensembl
CA385383215 RCV002602910 rs267603591 CA237704640	237	D>E		No	ClinGen ExAC TOPMed gnomAD ClinVar dbSNP
rs767923031 CA6638079	237	D>V		No	ClinGen ExAC gnomAD
CA6638077 rs139870455 COSM218423	240	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA6638076 COSM941824 rs374904822	240	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	241	I>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	241	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6638075 rs763152473	241	I>V		No	ClinGen ExAC gnomAD
CA385381445 rs1230351716	244	D>E		No	ClinGen gnomAD
CA237700977 rs940816135	244	D>G		No	ClinGen TOPMed
rs765402758 CA6638055	244	D>Y		No	ClinGen ExAC gnomAD
CA385381433 rs1380238872	245	K>E		No	ClinGen TOPMed
CA385381436 rs1380238872	245	K>Q		No	ClinGen TOPMed
CA385381431 rs1352251323	245	K>R		No	ClinGen gnomAD
TCGA novel	246	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761916213 CA6638054	248	N>H		No	ClinGen ExAC gnomAD
rs1008644447 CA237700945	249	I>V		No	ClinGen gnomAD
CA385381309 rs1435692213	250	M>I		No	ClinGen gnomAD
CA385381257 rs1325318745	252	V>L		No	ClinGen gnomAD
CA385381240 rs1405544260	253	A>G		No	ClinGen TOPMed gnomAD
CA385381247 rs1592421073	253	A>T		No	ClinGen Ensembl
CA385381238 rs1405544260	253	A>V		No	ClinGen TOPMed gnomAD
CA6638052 rs768439011	255	P>L		No	ClinGen ExAC gnomAD
CA385381211 rs1156306360	255	P>T		No	ClinGen gnomAD
CA385381180 rs553647130	257	V>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs553647130 CA237700923	257	V>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs1334482824 CA385381111	261	I>F		No	ClinGen TOPMed
rs775126518 CA6638050	261	I>T		No	ClinGen ExAC gnomAD
rs1477343967 CA385381072	263	S>N		No	ClinGen gnomAD
TCGA novel	264	M>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	267	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA385381000 rs1384464587	267	A>P		No	ClinGen TOPMed
CA385380965 rs771774048	269	V>F		No	ClinGen ExAC TOPMed gnomAD
CA6638048 rs771774048	269	V>I		No	ClinGen ExAC TOPMed gnomAD
rs770439255 CA6638046	271	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6638044 rs145761047	271	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770439255 CA6638045	271	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA237700889 rs894078139	274	R>C		No	ClinGen TOPMed gnomAD
rs199883998 CA6638043	274	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs894078139 CA385380897	274	R>S		No	ClinGen TOPMed gnomAD
CA6638042 rs755404310	276	R>C		No	ClinGen ExAC gnomAD
CA6638038 rs201598330	278	N>K		No	ClinGen ExAC TOPMed gnomAD
rs571332351 CA6638040	278	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1176880272 CA385380770	282	D>Y		No	ClinGen TOPMed
rs1237692044 CA385380746	283	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1318049018 CA385380716	285	L>F		No	ClinGen gnomAD
rs149786670 CA6638035	289	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs764142253 CA6638034	290	L>P		No	ClinGen ExAC gnomAD
rs1413242062 CA385380610	292	K>M		No	ClinGen gnomAD
TCGA novel	292	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375973190 CA6638033	293	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1427914612 CA385380602	293	L>M		No	ClinGen gnomAD
rs1475325722 CA385380578	294	P>L		No	ClinGen gnomAD
CA385380566 rs1246589029	295	T>I		No	ClinGen TOPMed gnomAD
CA237700873 rs796367780	296	P>S		No	ClinGen Ensembl
rs775425272 CA6638032	297	V>L		No	ClinGen ExAC
TCGA novel	300	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1377055131 CA385380495	300	F>L		No	ClinGen TOPMed
rs770527469 CA6638028	301	I>F		No	ClinGen ExAC gnomAD
rs748866869 CA6638027	301	I>M		No	ClinGen ExAC gnomAD
CA6638029 rs770527469	301	I>V		No	ClinGen ExAC gnomAD
CA6638024 rs537510334	304	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA6638025 rs146537621	304	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA385380369 rs1264718602	308	R>K		No	ClinGen TOPMed
rs747465880 CA6638023	310	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1481039777 CA385380304	312	S>I		No	ClinGen TOPMed
rs779318732 CA6638019	314	V>E		No	ClinGen ExAC gnomAD

No associated diseases with Q8NEX9

No regional properties for Q8NEX9

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q8NEX9

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm	Granular distribution in the whole cell
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
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.

3 GO annotations of molecular function

Name	Definition
NAD-retinol dehydrogenase activity	Catalysis of the reaction: retinol + NAD+ = retinal + NADH + H+.
oxidoreductase activity	Catalysis of an oxidation-reduction (redox) reaction, a reversible chemical reaction in which the oxidation state of an atom or atoms within a molecule is altered. One substrate acts as a hydrogen or electron donor and becomes oxidized, while the other acts as hydrogen or electron acceptor and becomes reduced.
steroid dehydrogenase activity	Catalysis of an oxidation-reduction (redox) reaction in which one substrate is a sterol derivative.

2 GO annotations of biological process

Name	Definition
retinol metabolic process	The chemical reactions and pathways involving retinol, one of the three compounds that makes up vitamin A.
steroid metabolic process	The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus.

7 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q02337	BDH1	D-beta-hydroxybutyrate dehydrogenase, mitochondrial	Bos taurus (Bovine)	PR
O75452	RDH16	Retinol dehydrogenase 16	Homo sapiens (Human)	PR
P80365	HSD11B2	11-beta-hydroxysteroid dehydrogenase type 2	Homo sapiens (Human)	PR
Q02338	BDH1	D-beta-hydroxybutyrate dehydrogenase, mitochondrial	Homo sapiens (Human)	PR
Q9R092	Hsd17b6	17-beta-hydroxysteroid dehydrogenase type 6	Mus musculus (Mouse)	PR
P50233	Hsd11b2	11-beta-hydroxysteroid dehydrogenase type 2	Rattus norvegicus (Rat)	PR
O54753	Hsd17b6	17-beta-hydroxysteroid dehydrogenase type 6	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MAALTDLSFM	YRWFKNCNLV	GNLSEKYVFI	TGCDSGFGNL	LAKQLVDRGM	QVLAACFTEE
70	80	90	100	110	120
GSQKLQRDTS	YRLQTTLLDV	TKSESIKAAA	QWVRDKVGEQ	GLWALVNNAG	VGLPSGPNEW
130	140	150	160	170	180
LTKDDFVKVI	NVNLVGLIEV	TLHMLPMVKR	ARGRVVNMSS	SGGRVAVIGG	GYCVSKFGVE
190	200	210	220	230	240
AFSDSIRREL	YYFGVKVCII	EPGNYRTAIL	GKENLESRMR	KLWERLPQET	RDSYGEDYFR
250	260	270	280	290	300
IYTDKLKNIM	QVAEPRVRDV	INSMEHAIVS	RSPRIRYNPG	LDAKLLYIPL	AKLPTPVTDF
310
ILSRYLPRPA	DSV