AiPD: Autoinhibited Protein Database

Q9BTZ2

Gene name	DHRS4
Protein name	Dehydrogenase/reductase SDR family member 4
Names	NADPH-dependent carbonyl reductase, CR, NADPH-dependent retinol dehydrogenase/reductase, NRDR, humNRDR, Peroxisomal short-chain alcohol dehydrogenase, PSCD, SCAD-SRL, Short chain dehydrogenase/reductase family 25C member 2, Protein SDR25C2, Short-chain dehydrogenase/reductase family member 4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10901
EC number	1.1.1.184: With NAD(+) or NADP(+) as acceptor
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-56 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-56 (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 Q9BTZ2

Entry ID	Method	Resolution	Chain	Position	Source
3O4R	X-ray	170 A	A/B/C/D	19-278	PDB
AF-Q9BTZ2-F1	Predicted				AlphaFoldDB

374 variants for Q9BTZ2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs762677465 CA389210075	2	H>N		No	ClinGen TOPMed gnomAD
CA7119134 rs149083909	2	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA257865630 rs762677465	2	H>Y		No	ClinGen TOPMed gnomAD
CA7119136 rs1127276	3	K>M		No	ExAC TOPMed gnomAD ClinGen
CA7119138 rs17099455	4	A>T		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1043437 CA7119142	5	G>R		No	ExAC TOPMed gnomAD ClinGen
rs1043437 CA7119141	5	G>W		No	ExAC TOPMed gnomAD ClinGen
CA389210320 rs1384806404	7	L>P		No	ClinGen gnomAD
CA257865637 rs112297891	7	L>V		No	Ensembl ClinGen
CA389210363 rs1594406277	8	G>D		No	Ensembl ClinGen
CA7119143 rs373790586	9	L>F		No	ESP ExAC TOPMed gnomAD ClinGen
CA7119144 rs763445367	9	L>P		No	ClinGen ExAC TOPMed gnomAD
CA389210393 rs373790586	9	L>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA389210406 rs1357476112	10	C>Y		No	gnomAD ClinGen
rs1377391490 CA389210482	12	R>P		No	gnomAD ClinGen
rs1377391490 CA389210478	12	R>Q		No	gnomAD ClinGen
rs1043438 CA7119147	12	R>W		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1277706674 CA389210525	13	A>D		No	gnomAD ClinGen
rs1280034559 CA389210510	13	A>T		No	TOPMed ClinGen
rs757239076 CA7119150	14	W>*		No	ExAC TOPMed gnomAD ClinGen
rs147026587 CA7119149	14	W>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147026587 CA389210558	14	W>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1043439 CA7119151	15	N>K		No	ClinGen ExAC TOPMed gnomAD
rs745652473 CA7119152	16	S>L		No	ClinGen ExAC TOPMed gnomAD
CA7119155 rs746696120	18	R>L		No	ExAC gnomAD ClinGen
CA7119154 rs779512774	18	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA389210712 rs1174795093	19	M>I		No	ClinGen gnomAD
rs368773119 CA7119156	19	M>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA7119157 rs776086682	19	M>R		No	ExAC TOPMed gnomAD ClinGen
CA389210728 rs372447828	20	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372447828 CA7119158	20	A>V		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA7119159 rs770269545	21	S>N		No	ExAC gnomAD ClinGen
rs1594406578 CA389210734	21	S>R		No	Ensembl ClinGen
rs1594406601 CA389210760	22	S>P		No	Ensembl ClinGen
TCGA novel	22	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389210802 rs1566464646	23	G>A		No	Ensembl ClinGen
CA7119160 CA7119161 rs1043440	23	G>R		No	ClinGen ExAC TOPMed gnomAD
rs774399986 CA7119163	24	M>R		No	ClinGen ExAC TOPMed gnomAD
CA7119164 rs759775088	25	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1594406662 CA389210862	25	T>P		No	ClinGen Ensembl
TCGA novel	25	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389210895 rs1276504390	26	R>C		No	ClinGen TOPMed gnomAD
rs61750885 CA7119166	26	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs61750885 CA7119167	26	R>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA7119168 rs765198644	27	R>L		No	ExAC gnomAD ClinGen
CA389210939 rs1318363754	28	D>Y		No	TOPMed ClinGen
rs750387743 CA7119169	29	P>T		No	ExAC gnomAD ClinGen
VAR_057272 rs1043442 CA257865663	31	A>T		No	gnomAD ClinGen UniProt dbSNP
CA257865667 rs113024587	32	N>D		No	Ensembl ClinGen
CA389211170 rs1267305669	33	K>N		No	ClinGen gnomAD
rs1201689194 CA389211139	33	K>Q		No	ClinGen gnomAD
rs1594406839 CA389211187	34	V>G		No	Ensembl ClinGen
rs780877357 CA7119174	36	L>V		No	ExAC gnomAD ClinGen
CA7119176 rs769310727	39	A>P		No	ClinGen ExAC gnomAD
CA389211339 rs1167532665	39	A>V		No	gnomAD ClinGen
CA7119179 rs771383963	41	T>A		No	ClinGen ExAC gnomAD
CA7119180 rs774758146	42	D>Y		No	ClinGen ExAC gnomAD
CA389211500 rs767848988	43	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1335692305 CA389211507	43	G>V		No	ClinGen TOPMed
CA7119182 rs767848988	43	G>W		No	ExAC TOPMed gnomAD ClinGen
CA7119210 rs543208779	45	G>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs752533208 CA7119211	45	G>V		No	ExAC gnomAD ClinGen
rs755742493 CA7119212	46	F>L		No	ExAC TOPMed gnomAD ClinGen
rs563498507 CA7119213	46	F>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1334229942 CA389212399	48	I>V		No	gnomAD ClinGen
rs374151392 CA257866260	49	A>S		No	ClinGen ExAC gnomAD
rs374151392 CA7119216	49	A>T		No	ClinGen ExAC gnomAD
CA7119217 rs746397493	49	A>V		No	ClinGen ExAC TOPMed gnomAD
rs772524465 CA7119218	50	R>G		No	ExAC gnomAD ClinGen
rs377038259 CA257866267	50	R>Q		No	gnomAD ClinGen
rs772524465 CA389212423	50	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs199663128 CA7119219	51	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs559251300 CA7119221	51	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs559251300 CA7119220	51	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1242694250 CA389212496	54	Q>E		No	gnomAD ClinGen
CA7119222 rs776782012	54	Q>P		No	ExAC gnomAD ClinGen
rs527652442 CA389212532	55	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA7119224 CA7119225 rs1127278	56	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389212542 rs1127278	56	G>W		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1404444509 CA389212560	57	A>T		No	ClinGen TOPMed
CA389212570 rs1408238006	57	A>V		No	ClinGen TOPMed
CA389212584 rs1289238265	58	H>N		No	gnomAD ClinGen
rs1127279 CA389212603	58	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1334287285 CA389212633	60	V>A		No	ClinGen gnomAD
CA389212620 rs1226999346	60	V>L		No	gnomAD ClinGen
CA7119231 rs753447935	61	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA7119232 rs753447935	61	V>L		No	ExAC TOPMed gnomAD ClinGen
CA389212652 rs1300335287	62	S>G		No	ClinGen gnomAD
rs1250255757 CA389212684	63	S>G		No	ClinGen TOPMed
CA389212712 rs550046703	64	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000912577 rs79086208 CA7119234	64	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs550046703 CA7119233	64	R>W		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1302542415 CA389212767	66	Q>P		No	TOPMed gnomAD ClinGen
CA7119235 rs758950587	67	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1566467061 CA389212797	67	Q>K		No	Ensembl ClinGen
CA389212867 rs1221704613	68	N>T		No	gnomAD ClinGen
CA389212903 rs1262577110	69	V>E		No	ClinGen TOPMed gnomAD
rs148405684 CA7119236	71	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs747370484 CA7119237	71	Q>H		No	ExAC TOPMed gnomAD ClinGen
CA389212976 rs1483757828	71	Q>R		No	gnomAD ClinGen
CA389213017 rs1256405432	72	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs150588702 CA7119240	73	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA389213020 rs1479507912	73	V>L		No	gnomAD ClinGen
rs139648244 CA389213105	75	T>K		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs139648244 CA7119241	75	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs4981491 CA7119245	77	Q>H		No	ExAC TOPMed gnomAD ClinGen
rs1427980717 CA389213164	77	Q>P		No	TOPMed gnomAD ClinGen
rs1158846747 CA389213226	78	G>E		No	TOPMed ClinGen
rs1353157976 CA389213272	79	E>D		No	ClinGen TOPMed gnomAD
rs1481077969 CA389213244	79	E>K		No	TOPMed ClinGen
CA389213298 rs1168234585	80	G>E		No	gnomAD ClinGen
CA389213317 rs1461743759	81	L>P		No	ClinGen gnomAD
CA389213331 rs1294647347	82	S>R		No	gnomAD ClinGen
CA7119246 rs566393352	83	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763815479 CA389213457	84	T>K		No	ExAC gnomAD ClinGen
rs763815479 CA7119247	84	T>M		No	ClinGen ExAC gnomAD
rs1374898260 CA389213523	85	G>A		No	gnomAD ClinGen
TCGA novel	85	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1271097074 CA389213585	87	V>G		No	TOPMed gnomAD ClinGen
rs375092227 CA7119250	87	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375092227 CA7119251	87	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs370061276 CA7119254	88	C>*		No	ESP ExAC TOPMed gnomAD ClinGen
CA7119252 rs758044638	88	C>Y		No	ClinGen ExAC gnomAD
CA7119255 rs755333534	89	H>L		No	ClinGen ExAC gnomAD
CA7119256 rs781382498	90	V>M		No	ExAC gnomAD ClinGen
rs1477841487 CA389213801	91	G>E		No	gnomAD ClinGen
rs557791502 CA7119259	92	K>N		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1566467428 CA389213886	93	A>T		No	Ensembl ClinGen
CA7119260 rs778037413	93	A>V		No	ClinGen ExAC TOPMed gnomAD
rs904451490 CA257866353	94	E>D		No	TOPMed ClinGen
rs771013816 CA7119262	94	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7119263 rs775359232	96	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	96	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7119264 rs746950522	96	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs775359232 CA257866354	96	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1188330789 CA389214114	98	R>Q		No	ClinGen TOPMed
CA7119265 rs373307909	98	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA257866366 rs891610937	99	L>P		No	ClinGen TOPMed gnomAD
CA7119267 rs761725199	100	V>G		No	ExAC gnomAD ClinGen
CA389214184 rs1268650327	100	V>L		No	TOPMed gnomAD ClinGen
CA389214182 rs1268650327	100	V>M		No	TOPMed gnomAD ClinGen
rs1229096227 CA389214253	101	A>V		No	gnomAD ClinGen
CA7119268 COSM302049 rs537144117	102	T>M	lung kidney autonomic_ganglia central_nervous_system [Cosmic]	No	1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated
rs1364877193 CA389216295	104	V>A		No	ClinGen gnomAD
rs1364877193 CA389216303	104	V>G		No	gnomAD ClinGen
CA7119303 rs780929753	104	V>M		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	106	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs571270624 CA7119304	108	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA389216437 rs1349336290	108	G>R		No	TOPMed gnomAD ClinGen
rs1264445152 CA389216473	109	G>C		No	gnomAD ClinGen
CA389216496 rs536739961	109	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs536739961 CA7119305	109	G>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1202604002 CA389216530	110	I>V		No	ClinGen TOPMed gnomAD
CA389216601 COSM122568 rs1439867803	111	D>N	upper_aerodigestive_tract [Cosmic]	No	gnomAD ClinGen cosmic curated
rs749157629 CA7119307	112	I>S		No	ExAC gnomAD ClinGen
CA389216716 rs1206407601	114	V>F		No	ClinGen gnomAD
rs770706823 CA7119310	115	S>A		No	ClinGen ExAC gnomAD
CA257868298 rs200717541	115	S>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ClinGen NCI-TCGA
CA7119313 rs771636129	116	N>K		No	ClinGen ExAC gnomAD
rs758914605 CA7119312	116	N>S		No	ClinGen ExAC gnomAD
CA389216858 rs1269844572	117	A>T		No	ClinGen gnomAD
CA389216887 rs1161860678	119	V>I		No	TOPMed ClinGen
CA389216890 rs1161860678	119	V>L		No	ClinGen TOPMed
CA389216930 rs1417424767	120	N>I		No	ClinGen TOPMed
CA389216929 rs1417424767	120	N>S		No	TOPMed ClinGen
CA7119315 rs761138106	121	P>S		No	ClinGen ExAC gnomAD
rs1191995184 CA389216963	122	F>V		No	ClinGen TOPMed
rs764633762 CA7119316	123	F>L		No	ClinGen ExAC TOPMed gnomAD
CA389217116 rs1335159205	124	G>E		No	gnomAD ClinGen
rs1405476464 CA389217155	125	S>N		No	ClinGen gnomAD
COSM3955938 CA7119317 rs17422812	126	I>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA7119318 rs762232154	126	I>M		No	ClinGen ExAC gnomAD
rs17422812 CA257868345	126	I>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA7119319 rs145153072	128	D>A		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA389217277 rs1236736758	128	D>E		No	ClinGen TOPMed
CA7119320 rs750668237	129	V>I		No	ExAC gnomAD ClinGen
CA7119323 rs200099029	131	E>A		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA389217381 rs1225038293	131	E>K		No	TOPMed ClinGen
rs368587213 CA7119325	132	E>*		No	ESP ExAC TOPMed gnomAD ClinGen
rs1404754560 CA389217458	132	E>D		No	ClinGen TOPMed
rs368587213 CA7119324	132	E>Q		No	ESP ExAC TOPMed gnomAD ClinGen
CA7119326 CA389217524 rs756111199	134	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1225346171 CA389217505	134	W>G		No	gnomAD ClinGen
CA389217590 rs1374946108	135	D>E		No	gnomAD ClinGen
CA389217570 rs1194176219	135	D>G		No	ClinGen TOPMed gnomAD
COSM1707213 rs1480128156 CA389217541	135	D>N	skin [Cosmic]	No	gnomAD ClinGen cosmic curated
rs11556283 CA7119327	136	K>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1423225144 CA389193344	137	T>N		No	ClinGen TOPMed gnomAD
TCGA novel	138	L>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389193378 rs1159687888	139	D>Y		No	gnomAD ClinGen
rs1157983167 CA389193406	140	I>M		No	gnomAD ClinGen
rs1450915817 CA389193402	140	I>T		No	gnomAD ClinGen
rs779623712 CA7119384	141	N>I		No	ClinGen ExAC gnomAD
rs751230541 CA7119385	142	V>G		No	ClinGen ExAC
rs754441403 CA7119386	143	K>R		No	ClinGen ExAC gnomAD
CA389193515 rs1242140030	145	P>T		No	TOPMed ClinGen
CA389193534 rs1378870754	146	A>V		No	ClinGen gnomAD
CA7119387 rs780646693	147	L>P		No	ClinGen ExAC gnomAD
rs747658084 CA389193565	148	M>K		No	ClinGen ExAC gnomAD
rs747658084 CA7119388	148	M>T		No	ExAC gnomAD ClinGen
CA7119389 rs770332224	149	T>A		No	ClinGen ExAC gnomAD
rs778150421 CA7119390	150	K>T		No	ExAC gnomAD ClinGen
rs1325977434 CA389193607	151	A>T		No	gnomAD ClinGen
rs771222619 CA7119392	152	V>A		No	ClinGen ExAC gnomAD
CA389193733 rs1177716697	157	E>K		No	ClinGen gnomAD
rs200746605 CA7119394	159	R>*		No	ClinGen ExAC TOPMed gnomAD
CA7119395 rs772473215	159	R>Q		No	ExAC gnomAD ClinGen
CA389193788 rs1180912987	160	G>E		No	ClinGen gnomAD
rs759333144 CA7119423	161	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1423288255 CA389193819	162	G>C		No	ClinGen TOPMed gnomAD
rs1323022257 CA389193820	162	G>D		No	gnomAD ClinGen
CA389193817 rs1423288255	162	G>S		No	ClinGen TOPMed gnomAD
CA389193886 rs1594434697	165	V>G		No	ClinGen Ensembl
CA7119426 rs755614310	166	I>T		No	ClinGen ExAC gnomAD
CA7119425 rs752315595	166	I>V		No	ClinGen ExAC TOPMed gnomAD
rs368789022 CA7119429	167	V>M		No	ESP ExAC TOPMed gnomAD ClinGen
CA7119430 rs779628144	170	I>M		No	ClinGen ExAC gnomAD
CA7119432 rs151320384	172	A>T		No	ESP ExAC gnomAD ClinGen
CA7119433 rs780269987	174	S>I		No	ExAC TOPMed gnomAD ClinGen
rs747226686 CA7119434	174	S>R		No	ClinGen ExAC gnomAD
rs776550686 CA7119436	176	S>F		No	ExAC gnomAD ClinGen
rs768961778 CA7119435	176	S>P		No	ClinGen ExAC gnomAD
CA7119453 rs201751120	178	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA389194114 rs1566477301	178	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
rs140619145 CA7119454	183	N>H		No	ClinGen ESP ExAC gnomAD
rs747449020 CA7119455	183	N>I		No	ExAC TOPMed gnomAD ClinGen
rs755140574 CA7119456	183	N>K		No	ExAC TOPMed gnomAD ClinGen
rs747449020 COSM4136245 CA389194172	183	N>S	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs781542713 CA7119457	184	V>I		No	ClinGen ExAC gnomAD
CA389194206 rs1444257949	186	K>N		No	ClinGen gnomAD
rs1349285832 CA389194219	187	T>I		No	ClinGen gnomAD
CA389194212 rs1285970137	187	T>S		No	gnomAD ClinGen
CA389194224 rs1479198151	188	A>D		No	ClinGen TOPMed
rs748170382 CA7119458	188	A>T		No	ClinGen ExAC gnomAD
rs769885588 CA7119459	189	L>F		No	ClinGen ExAC TOPMed gnomAD
CA389194239 rs1343328645	190	L>M		No	ClinGen TOPMed gnomAD
CA389194263 rs1594435653	193	T>A		No	ClinGen Ensembl
CA7119462 rs772099993	193	T>N		No	ExAC TOPMed gnomAD ClinGen
rs1251200239 CA389194272	194	K>E		No	gnomAD ClinGen
rs11556285 CA389194280 CA7119464	194	K>N		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	194	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA389194290 rs1257149833	195	T>I		No	ClinGen TOPMed
CA389194293 rs1201881440	196	L>V		No	TOPMed gnomAD ClinGen
rs1230486618 CA389194314	198	I>K		No	ClinGen gnomAD
rs1477822924 CA389194311	198	I>L		No	ClinGen gnomAD
rs796627973 CA257835242	199	E>D		No	TOPMed gnomAD ClinGen
CA389194327 rs1171824940	199	E>G		No	ClinGen gnomAD
rs749992765 CA7119469	201	A>D		No	ExAC gnomAD ClinGen
CA389194340 rs764867246	201	A>S		No	ClinGen ExAC TOPMed gnomAD
rs764867246 CA7119468	201	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7119471 rs138417192	202	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1043650 RCV000959735 CA7119470 VAR_061846	202	P>S		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP
rs751863920 CA7119472	203	R>G		No	ExAC TOPMed gnomAD ClinGen
CA7119473 rs755384901	203	R>K		No	ExAC gnomAD ClinGen
rs781224348 CA7119474	203	R>S		No	ExAC ClinGen
rs1341848573 CA389194366	204	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs752948395 CA7119475	205	I>V		No	ClinGen ExAC gnomAD
rs141593871 CA7119476	206	R>K		No	ESP ExAC TOPMed gnomAD ClinGen
CA389195005 rs141593871	206	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs749432011 CA7119478	207	V>E		No	ClinGen ExAC gnomAD
CA7119477 rs201142570	207	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA257835291 rs573605554	208	N>D		No	1000Genomes gnomAD ClinGen
rs771903144 CA7119479	209	C>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA389195044 rs1194113727	209	C>Y		No	gnomAD ClinGen
rs780048095 CA7119481	211	A>E		No	ClinGen ExAC gnomAD
rs780048095 CA389195072	211	A>V		No	ClinGen ExAC gnomAD
rs768515810 CA7119484	212	P>L		No	ExAC TOPMed gnomAD ClinGen
rs768515810 CA7119483	212	P>R		No	ExAC TOPMed gnomAD ClinGen
CA7119482 rs746721760	212	P>S		No	ClinGen ExAC gnomAD
COSM698128 rs372755007 CA7119486	213	G>E	lung [Cosmic]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated
rs536586387 CA7119485	213	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7119487 rs772834872	214	L>F		No	ClinGen ExAC gnomAD
CA389195102 rs1257343207	215	I>T		No	TOPMed ClinGen
rs762589480 CA7119488	215	I>V		No	ClinGen ExAC TOPMed gnomAD
rs752132182 CA7119490	216	K>T		No	ExAC gnomAD ClinGen
rs1360843124 CA389195152	218	S>R		No	gnomAD ClinGen
rs1248782366 CA389195212	221	R>K		No	ClinGen gnomAD
rs772504566 CA7119531	224	W>*		No	ClinGen ExAC gnomAD
rs772504566 CA389195492	224	W>C		No	ExAC gnomAD ClinGen
rs1249124626 CA389195523	226	D>N		No	gnomAD ClinGen
CA389195539 rs1362140106	227	K>E		No	TOPMed ClinGen
CA389195546 rs1432113030	227	K>R		No	TOPMed gnomAD ClinGen
CA389195585 rs1253391677	229	K>E		No	TOPMed gnomAD ClinGen
rs1025494985 CA257836126	229	K>N		No	ClinGen TOPMed gnomAD
rs760977490 CA7119534	230	E>D		No	ExAC TOPMed gnomAD ClinGen
rs775993006 CA7119533	230	E>Q		No	ClinGen ExAC gnomAD
rs1594438357 CA389195645	232	S>T		No	Ensembl ClinGen
CA389195707 rs1429624207	235	E>*		No	ClinGen gnomAD
rs776896665 CA7119536	235	E>G		No	ExAC gnomAD ClinGen
TCGA novel	235	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762070461 CA7119538	236	T>A		No	ClinGen ExAC
CA389195746 rs1174443716	236	T>I		No	ClinGen gnomAD
CA389195744 rs1174443716	236	T>N		No	ClinGen gnomAD
CA7119541 rs758554224	238	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA7119540 rs377709673	238	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA257836162 rs572324083	241	R>M		No	ClinGen 1000Genomes
CA7119585 rs764906768	243	G>D		No	ClinGen ExAC gnomAD
rs1256730282	244	E>*		No	gnomAD
rs750265927 CA7119586	244	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1256730282	244	E>K		No	gnomAD
rs1425087219	245	P>T		No	gnomAD
rs779744772 CA389197382	247	D>E		No	ClinGen ExAC gnomAD
rs1444025882	247	D>G		No	gnomAD
rs766957254	248	C>S		No	ExAC TOPMed gnomAD
rs1411577348 CA389197385	248	C>S		No	ClinGen gnomAD
rs751004270 CA389197407	248	C>S		No	ClinGen ExAC gnomAD
rs751004270 CA7119589	248	C>Y		No	ClinGen ExAC gnomAD
rs760172408	249	A>P		No	ExAC TOPMed gnomAD
rs1172996741 CA389197451	249	A>T		No	ClinGen TOPMed gnomAD
CA7119590 rs754460638	249	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs767983761	249	A>V		No	ExAC TOPMed gnomAD
rs753006379	250	G>A		No	ExAC gnomAD
CA389197492 rs1412720286	250	G>S		No	ClinGen gnomAD
rs1161933364	250	G>S		No	gnomAD
rs781687494 CA7119591	251	I>M		No	ClinGen ExAC gnomAD
rs764240943	251	I>V		No	ExAC gnomAD
rs757295923	252	V>L		No	ExAC TOPMed gnomAD
CA7119592 rs748632968	252	V>L		No	ClinGen ExAC TOPMed gnomAD
CA389197566 rs748632968	252	V>M		No	ClinGen ExAC TOPMed gnomAD
rs757295923	252	V>M		No	ExAC TOPMed gnomAD
rs1242515491	253	S>C		No	gnomAD
rs1282414095	254	F>L		No	gnomAD
rs1314947217	255	L>P		No	gnomAD
rs1305638478 CA389197667	255	L>P		No	ClinGen TOPMed gnomAD
CA389197699 rs1223908877	257	S>A		No	ClinGen Ensembl
CA389197701 rs1349540871	257	S>Y		No	ClinGen gnomAD
CA7119595 rs145338436	259	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA7119594 rs373889538	259	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA389197755 rs373889538	259	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1214776701	259	D>Y		No	gnomAD
rs779012453	260	A>D		No	ExAC TOPMed gnomAD
rs1343259976 CA389197773	260	A>P		No	ClinGen TOPMed gnomAD
rs779012453	260	A>V		No	ExAC TOPMed gnomAD
rs1219158703 CA389197813	261	S>N		No	ClinGen gnomAD
CA389197838 rs1275901696	261	S>R		No	ClinGen gnomAD
CA7119597 rs749737331	263	I>F		No	ClinGen ExAC TOPMed gnomAD
rs780975226	263	I>L		No	ExAC TOPMed gnomAD
CA7119596 rs749737331	263	I>L		No	ClinGen ExAC TOPMed gnomAD
CA389197885 rs749737331	263	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1347148981	264	T>P		No	TOPMed
rs1273183435	265	G>E		No	TOPMed
CA389197934 rs1203188574	266	E>K		No	ClinGen TOPMed gnomAD
rs1034637629	266	E>K		No	TOPMed
CA389197936 rs1203188574	266	E>Q		No	ClinGen TOPMed gnomAD
CA389197978 rs774730946	267	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7119598 rs774730946	267	T>R		No	ClinGen ExAC TOPMed gnomAD
CA7119600 rs571633413	268	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1452432413 CA389197995	268	V>L		No	ClinGen gnomAD
CA7119602 rs775676497	269	V>L		No	ClinGen ExAC TOPMed gnomAD
rs2760086	269	V>M		No	ExAC TOPMed gnomAD
rs775676497 CA7119601	269	V>M		No	ClinGen ExAC TOPMed gnomAD
rs918569418	272	G>*		No	TOPMed gnomAD
TCGA novel	272	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1415843208	272	G>E		No	TOPMed
rs918569418	272	G>R		No	TOPMed gnomAD
rs561342827	273	G>E		No	1000Genomes ExAC gnomAD
rs748992996	273	G>R		No	ExAC TOPMed gnomAD
rs765273457 CA7119603	274	T>P		No	ClinGen ExAC gnomAD
rs774065766	274	T>P		No	ExAC gnomAD
rs1401202910	275	P>L		No	TOPMed gnomAD
CA389198117 rs1390784464	275	P>Q		No	ClinGen gnomAD
rs1401202910	275	P>R		No	TOPMed gnomAD
rs1594481609	276	S>P		No	Ensembl
rs1594442601 CA389198130	276	S>P		No	ClinGen Ensembl
rs1166230032 CA389198147	277	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs775872621	277	R>C		No	ExAC gnomAD
rs775872621	277	R>G		No	ExAC gnomAD
rs760974977	277	R>H		No	ExAC TOPMed gnomAD
rs762740127 CA7119605	277	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7119607 rs751234554	278	L>V		No	ClinGen ExAC gnomAD
rs754470555 CA389198184	279	L>L		No	ClinGen ExAC TOPMed gnomAD
rs763360852 CA7119608	279	L>L		No	ClinGen ExAC gnomAD
CA389198182 rs1406059913	279	L>R		No	ClinGen TOPMed
rs754470555 CA7119609	279	L>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD

No associated diseases with Q9BTZ2

1 regional properties for Q9BTZ2

Type	Name	Position	InterPro Accession
conserved_site	Short-chain dehydrogenase/reductase, conserved site	169 - 197	IPR020904

Functions

		Description
EC Number	1.1.1.184	With NAD(+) or NADP(+) as acceptor
Subcellular Localization	[Isoform 1]: Peroxisome	Isoform 4 is not peroxisomal
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 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.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
peroxisomal matrix	The volume contained within the membranes of a peroxisome; in many cells the matrix contains a crystalloid core largely composed of urate oxidase.
peroxisomal membrane	The lipid bilayer surrounding a peroxisome.
peroxisome	A small organelle enclosed by a single membrane, and found in most eukaryotic cells. Contains peroxidases and other enzymes involved in a variety of metabolic processes including free radical detoxification, lipid catabolism and biosynthesis, and hydrogen peroxide metabolism.

7 GO annotations of molecular function

Name	Definition
3-keto sterol reductase activity	Catalysis of the reaction: a 3-beta-hydroxyl sterol + NADP+ = a 3-keto sterol + NADPH + H(+).
3beta-hydroxy-5beta-steroid dehydrogenase activity	Catalysis of the reaction: 3beta-hydroxy-5beta-pregnane-20-one + NADP(+) = 5beta-pregnan-3,20-dione + H(+) + NADPH.
alcohol dehydrogenase [NAD(P)+] activity	Catalysis of the reaction: an alcohol + NAD(P)+ = an aldehyde + NAD(P)H + H+.
carbonyl reductase (NADPH) activity	Catalysis of the reaction: R-CHOH-R' + NADP+ = R-CO-R' + NADPH + H+.
identical protein binding	Binding to an identical protein or proteins.
NADP-retinol dehydrogenase activity	Catalysis of the reaction: all-trans-retinol + NADP+ = all-trans-retinal + NADPH + H+.
oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor	Catalysis of an oxidation-reduction (redox) reaction in which NADH or NADPH acts as a hydrogen or electron donor and reduces a quinone or a similar acceptor molecule.

5 GO annotations of biological process

Name	Definition
alcohol metabolic process	The chemical reactions and pathways involving alcohols, any of a class of compounds containing one or more hydroxyl groups attached to a saturated carbon atom.
cellular ketone metabolic process	The chemical reactions and pathways involving any of a class of organic compounds that contain the carbonyl group, CO, and in which the carbonyl group is bonded only to carbon atoms, as carried out by individual cells. The general formula for a ketone is RCOR, where R and R are alkyl or aryl groups.
positive regulation of reactive oxygen species metabolic process	Any process that activates or increases the frequency, rate or extent of reactive oxygen species metabolic process.
retinal metabolic process	The chemical reactions and pathways involving retinal, a compound that plays an important role in the visual process in most vertebrates. In the retina, retinal combines with opsins to form visual pigments. Retinal is one of the forms of vitamin A.
steroid metabolic process	The chemical reactions and pathways involving steroids, compounds with a 1,2,cyclopentanoperhydrophenanthrene nucleus.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q96LJ7	DHRS1	Dehydrogenase/reductase SDR family member 1	Homo sapiens (Human)	PR
P0CG22	DHRS4L1	Putative dehydrogenase/reductase SDR family member 4-like 1	Homo sapiens (Human)	PR
Q99L04	Dhrs1	Dehydrogenase/reductase SDR family member 1	Mus musculus (Mouse)	PR
Q84ST4	NOL	Chlorophyll(ide) b reductase NOL, chloroplastic	Oryza sativa subsp japonica (Rice)	PR

10	20	30	40	50	60
MHKAGLLGLC	ARAWNSVRMA	SSGMTRRDPL	ANKVALVTAS	TDGIGFAIAR	RLAQDGAHVV
70	80	90	100	110	120
VSSRKQQNVD	QAVATLQGEG	LSVTGTVCHV	GKAEDRERLV	ATAVKLHGGI	DILVSNAAVN
130	140	150	160	170	180
PFFGSIMDVT	EEVWDKTLDI	NVKAPALMTK	AVVPEMEKRG	GGSVVIVSSI	AAFSPSPGFS
190	200	210	220	230	240
PYNVSKTALL	GLTKTLAIEL	APRNIRVNCL	APGLIKTSFS	RMLWMDKEKE	ESMKETLRIR
250	260	270
RLGEPEDCAG	IVSFLCSEDA	SYITGETVVV	GGGTPSRL