AiPD: Autoinhibited Protein Database

Q02338

Gene name	BDH1
Protein name	D-beta-hydroxybutyrate dehydrogenase, mitochondrial
Names	3-hydroxybutyrate dehydrogenase, BDH, Short chain dehydrogenase/reductase family 9C member 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:622
EC number	1.1.1.30: 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)

1-78 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-78 (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 Q02338

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q02338-F1	Predicted				AlphaFoldDB

324 variants for Q02338

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA2786334 rs762188388	3	A>P		No	ExAC gnomAD ClinGen
rs1294934237 CA355661386	4	T>I		No	TOPMed gnomAD ClinGen
CA2786333 rs776683536	4	T>P		No	ExAC gnomAD ClinGen
rs146716698 CA2786332	5	R>C		No	ESP ExAC TOPMed gnomAD ClinGen
CA2786331 rs115296714	5	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA90955911 rs115296714	5	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA2786330 rs776447857	10	L>P		No	ClinGen ExAC gnomAD
CA2786327 rs563283061	12	R>Q		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs746246893 CA2786329	12	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2786326 rs771281316	13	L>V		No	ExAC gnomAD ClinGen
TCGA novel	17	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	20	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747875212 CA2786325	22	D>A		No	ExAC gnomAD ClinGen
rs780658065 CA2786324	26	G>E		No	ExAC gnomAD ClinGen
rs754547614 CA2786323	27	A>E		No	ClinGen ExAC TOPMed gnomAD
CA355661128 rs1166263077	27	A>P		No	TOPMed ClinGen
rs1038584249 CA90955869	28	R>K		No	ClinGen TOPMed
rs199910914 CA2786298	29	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2786297 rs201898088	29	R>H	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2786296 rs757110876	30	P>L		No	ExAC gnomAD ClinGen
rs1269954045 CA355659595	30	P>S		No	ClinGen gnomAD
rs1489396579 CA355659556	34	G>A		No	TOPMed ClinGen
TCGA novel	35	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2786293 rs756349746	36	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	37	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	37	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355659520 rs1266105254	38	F>C		No	TOPMed ClinGen
CA2786292 rs200290672	39	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355659483 rs1419140983	41	I>T		No	ClinGen gnomAD
CA2786289 rs61747148	43	R>C		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs373798271 CA2786288	43	R>H		No	ESP ExAC TOPMed gnomAD ClinGen
rs373798271 CA355659462	43	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2786286 rs60309541	44	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000964953 CA2786285 rs60309541	44	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA2786287 rs141146905	44	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA90947388 rs770187050	46	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1254735269 CA355659451	46	Y>H		No	gnomAD ClinGen
CA355659441 rs1438031686	47	A>G		No	TOPMed gnomAD ClinGen
rs1438031686 CA355659440	47	A>V		No	TOPMed gnomAD ClinGen
rs746678728 CA2786283	48	S>G		No	ExAC gnomAD ClinGen
CA355659429 rs200027383	49	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs200027383 CA2786282	49	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs377023279 CA2786280	50	A>V		No	ESP ExAC TOPMed gnomAD ClinGen
rs533685138 CA2786278	52	P>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA355659414 rs1354163597	52	P>T		No	gnomAD ClinGen
CA90946709 rs953679402	55	S>G		No	ClinGen Ensembl
rs1028030344 CA90946708	55	S>R		No	ClinGen TOPMed gnomAD
rs1221072088 CA355659380	56	K>Q		No	ClinGen TOPMed gnomAD
rs997887092 CA90946707	59	L>M		No	Ensembl ClinGen
rs1302954609 CA355659339	62	G>V		No	ClinGen gnomAD
CA355659328 rs1480513711	64	D>N		No	ClinGen TOPMed
rs1201348560 CA355659321	65	S>P		No	TOPMed ClinGen
TCGA novel	67	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355659296 rs1258898306	69	F>I		No	ClinGen TOPMed
CA90946685 rs17850831	70	S>A		No	Ensembl ClinGen
rs541287538 CA2786249	70	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs764544382 CA2786246	72	A>T		No	ClinGen ExAC gnomAD
rs759331947 CA2786245	72	A>V		No	ClinGen ExAC gnomAD
rs774023746 CA355659267 CA2786244	73	K>N		No	ExAC gnomAD ClinGen
rs1187820423 CA355659271	73	K>Q		No	TOPMed ClinGen
CA2786243 rs376688866	74	H>N		No	ESP ExAC TOPMed gnomAD ClinGen
rs376688866 CA2786242	74	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs773056463 CA2786241	78	K>E		No	ClinGen ExAC gnomAD
rs888711486 CA90946652	78	K>T		No	Ensembl ClinGen
rs371395444 CA2786240	83	F>I		No	ClinGen ESP ExAC gnomAD
CA355659201 rs1485819576	84	A>T		No	ClinGen gnomAD
rs748062244 CA2786239	85	G>R		No	ExAC gnomAD ClinGen
TCGA novel	86	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781031088 CA2786238	87	L>V		No	ClinGen ExAC gnomAD
rs1348700526 CA355659176	88	M>V		No	ClinGen gnomAD
CA2786214 rs746067625	93	H>R		No	ClinGen ExAC gnomAD
rs1461753249 CA355658662	94	D>N		No	gnomAD ClinGen
rs779119887 CA2786213	96	V>I		No	ExAC gnomAD ClinGen
rs1419923465 CA355658617	98	E>K		No	ClinGen TOPMed
rs1417850831 CA355658589	100	D>V		No	ClinGen gnomAD
rs144735378 CA2786212	101	S>I		No	ESP ExAC TOPMed gnomAD ClinGen
rs749860049 CA2786211	103	N>H		No	ExAC gnomAD ClinGen
CA355658559 rs1251446152	103	N>K		No	gnomAD ClinGen
CA355658534 rs1195467401	105	D>E		No	ClinGen gnomAD
rs1579900511 CA355658538	105	D>G		No	Ensembl ClinGen
CA2786209 rs556792301	106	R>*		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs753039967 CA2786208	106	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2786206 rs758135330	109	T>I		No	ClinGen ExAC gnomAD
CA2786204 rs115125137	110	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA90940580 rs760335872	111	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA355658424 rs1351372024	115	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	116	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760403759 CA2786200	117	S>N		No	ClinGen ExAC gnomAD
CA355658394 rs775415137	117	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1328325001 CA355658403	117	S>R		No	TOPMed gnomAD ClinGen
COSM1184630 rs771764181 CA2786198	118	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs774693783 CA2786196	121	E>G		No	ExAC gnomAD ClinGen
rs112102927 CA2786194	124	V>A		No	ClinGen ExAC gnomAD
CA355658330 rs1417534920	124	V>M		No	gnomAD ClinGen
rs924016446 CA90940559	126	I>T		No	TOPMed ClinGen
rs778431146 CA2786193	128	R>C		No	ClinGen ExAC TOPMed gnomAD
CA355658303 rs1272417862	128	R>H		No	gnomAD ClinGen
CA355658298 rs777558362	129	S>*		No	ExAC TOPMed gnomAD ClinGen
CA90940558 rs924292755	129	S>A		No	TOPMed ClinGen
CA2786191 rs777558362	129	S>L		No	ClinGen ExAC TOPMed gnomAD
rs777558362 CA2786192	129	S>W		No	ClinGen ExAC TOPMed gnomAD
CA355658294 rs1260777168	130	S>N		No	ClinGen gnomAD
CA2786189 rs199992096	130	S>R		No	ClinGen 1000Genomes ExAC gnomAD
CA2786187 rs778493168	132	K>R		No	ExAC gnomAD ClinGen
rs1429754406 CA355658272	133	D>E		No	TOPMed ClinGen
RCV000893453 CA2786161 CA2786162 rs78687894	138	M>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs559381089 CA2786164	138	M>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA2786163 rs115664357	138	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1324022950 CA355657833	139	W>*		No	ClinGen TOPMed
rs1387555712 CA355657836	139	W>*		No	TOPMed ClinGen
rs994504255 CA90935494	139	W>R		No	ClinGen Ensembl
rs868317063 CA90935483	142	V>I		No	gnomAD ClinGen
rs769939573 CA2786158	144	N>S		No	ClinGen ExAC gnomAD
rs761754563 CA2786157	145	A>D		No	ExAC TOPMed gnomAD ClinGen
rs761754563 CA355657794	145	A>V		No	ExAC TOPMed gnomAD ClinGen
CA90935464 rs1003679199	146	G>S		No	ClinGen gnomAD
CA355657788 rs1485134081	147	I>V		No	gnomAD ClinGen
rs200503908 CA2786154	149	T>A		No	ESP ExAC TOPMed gnomAD ClinGen
rs199764274 CA2786153	149	T>M		No	ExAC TOPMed gnomAD ClinGen
CA2786149 rs376850979	151	G>R		No	ESP ExAC TOPMed gnomAD ClinGen
rs770637426 CA2786147	152	E>A		No	ExAC TOPMed gnomAD ClinGen
CA2786146 rs755024758	153	V>M		No	ClinGen ExAC TOPMed gnomAD
rs766323976 CA2786144	156	T>A		No	ClinGen ExAC gnomAD
CA2786143 rs758218121	157	S>R		No	ClinGen ExAC gnomAD
CA355657693 rs1420011831	159	E>A		No	ClinGen gnomAD
CA355657698 rs1476787555	159	E>K		No	ClinGen TOPMed gnomAD
CA355657676 rs1188043696	160	T>I		No	ClinGen gnomAD
CA355657680 rs1188043696	160	T>N		No	gnomAD ClinGen
CA2786142 rs750705854	161	Y>C		No	ExAC TOPMed gnomAD ClinGen
rs750705854 CA90935412	161	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA90935410 rs921373948	163	Q>H		No	Ensembl ClinGen
CA355657639 rs1165251682	164	V>M		No	TOPMed ClinGen
TCGA novel	165	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs976875120 CA90935409	167	V>G		No	Ensembl ClinGen
CA2786140 rs761962343	168	N>S		No	ExAC gnomAD ClinGen
CA90935405 rs952068896	169	L>F		No	ClinGen TOPMed gnomAD
CA355657565 rs1337575647	170	W>*		No	gnomAD ClinGen
CA90935396 rs965817612	170	W>*		No	ClinGen gnomAD
rs1337575647 CA355657567	170	W>C		No	ClinGen gnomAD
rs150902033 CA2786137	173	V>G		No	ESP ExAC TOPMed gnomAD ClinGen
rs772452248 CA2786135	174	R>Q		No	ExAC gnomAD ClinGen
rs373256517 CA2786136	174	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA355657522 rs1443168780	175	M>V		No	TOPMed gnomAD ClinGen
CA2786134 rs746191768	176	T>M		No	ClinGen ExAC TOPMed gnomAD
rs769274637 CA2786132	177	K>I		No	ExAC gnomAD ClinGen
rs747825859 CA2786131	180	L>F		No	ClinGen ExAC gnomAD
CA355657438 rs780604876	182	L>F		No	ClinGen ExAC TOPMed gnomAD
CA2786130 rs780604876	182	L>V		No	ClinGen ExAC TOPMed gnomAD
CA2786129 rs754513408	183	I>F		No	ClinGen ExAC
CA2786128 rs746963745	184	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs201775401 CA90935368	184	R>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs201775401 CA2786127	184	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA2786126 rs537760023	185	R>T		No	1000Genomes ExAC ClinGen
CA2786125 rs750124421	186	A>V		No	ExAC gnomAD ClinGen
CA355657389 rs1232016529	187	K>I		No	ClinGen gnomAD
rs920367550 CA90934102	189	R>C		No	TOPMed gnomAD ClinGen
rs137863421 CA2786085	189	R>H		No	ESP ExAC gnomAD ClinGen
CA2786083 rs752915471	190	V>I		No	ClinGen ExAC TOPMed gnomAD
CA355656898 rs752915471	190	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2786080 rs752035471	191	V>I		No	ExAC TOPMed gnomAD ClinGen
rs766839210 CA2786079	192	N>D		No	ClinGen ExAC TOPMed gnomAD
CA355656860 rs1303706760	193	I>S		No	TOPMed ClinGen
CA90934066 rs964914209	195	S>T		No	TOPMed gnomAD ClinGen
CA355656822 CA2786078 rs763236268	196	M>I		No	ClinGen ExAC gnomAD
CA355656825 rs1275748164	196	M>T		No	ClinGen gnomAD
CA355656805 rs1301912478	198	G>V		No	ClinGen gnomAD
rs542445174 CA2786076	199	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2786075 rs760442245	199	R>H		No	ClinGen ExAC TOPMed gnomAD
rs542445174 CA355656800	199	R>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs775259877 CA2786074	200	M>V		No	ClinGen ExAC gnomAD
rs927563864 CA90934001	202	N>S		No	TOPMed ClinGen
CA2786072 rs140269063	203	P>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA90933989 rs140269063	203	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	205	R>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2786070 rs368597951	205	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2786069 rs749172620	205	R>H	Variant assessed as Somatic; 5.128e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA355656753 rs749172620	205	R>L		No	ExAC TOPMed gnomAD ClinGen
rs1252834942 CA355656748	206	S>C		No	gnomAD ClinGen
CA2786067 COSM1566837 rs200605471	207	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA
CA90933956 rs375263576	209	C>Y		No	ESP TOPMed gnomAD ClinGen
rs1234527978 CA355656714	211	T>I		No	gnomAD ClinGen
rs755013846 CA2786064	212	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs747048497 CA2786063	212	K>R		No	ExAC gnomAD ClinGen
rs144830970 CA2786061	214	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1456312328 CA355656699	214	G>R		No	ClinGen TOPMed
rs114600793 CA2786060 RCV000888094	215	V>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs757649832 CA2786058	217	A>D		No	ExAC gnomAD ClinGen
CA2786059 rs765743905	217	A>S		No	ClinGen ExAC gnomAD
rs767131775 CA355656666	219	S>*		No	ExAC gnomAD ClinGen
CA2786056 rs767131775	219	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs1560300309 CA355656653	221	C>Y		No	ClinGen Ensembl
CA2786052 rs762920612	222	L>R		No	ExAC gnomAD ClinGen
rs773113109 CA355656644	223	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2786051 rs773113109	223	R>G		No	ExAC TOPMed gnomAD ClinGen
rs1178948970 CA355656642	223	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA355656639 rs1315245360	224	Y>N		No	ClinGen TOPMed
rs776728556 CA2786048	226	M>I		No	ExAC gnomAD ClinGen
rs747867608 CA2786049	226	M>L		No	ExAC gnomAD ClinGen
rs1335441477 CA355656620	226	M>T		No	TOPMed gnomAD ClinGen
CA2786047 rs768975972	228	P>A		No	ExAC TOPMed gnomAD ClinGen
CA355656608 rs768975972	228	P>T		No	ExAC TOPMed gnomAD ClinGen
rs1002260866	229	L>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA355656594 rs1446442908	230	G>A		No	ClinGen gnomAD
CA355656595 rs1446442908	230	G>D		No	ClinGen gnomAD
CA2786044 rs758384765	231	V>L		No	ExAC TOPMed gnomAD ClinGen
CA2786043 rs758384765	231	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2786042 rs746397441	232	K>T		No	ClinGen ExAC gnomAD
CA90933851 rs752919802	233	V>I		No	ClinGen TOPMed
rs1461933313 CA355656576	234	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1184027978 CA355656571	234	S>I		No	ClinGen TOPMed
CA2786040 rs757702931	235	V>L		No	ExAC TOPMed gnomAD ClinGen
CA355656568 rs757702931	235	V>M		No	ClinGen ExAC TOPMed gnomAD
CA355656548 rs887386685	238	P>A		No	ClinGen TOPMed gnomAD
rs890810529 CA90933831	238	P>H		No	Ensembl ClinGen
CA90933835 rs887386685	238	P>S		No	TOPMed gnomAD ClinGen
rs368212467 CA2786036	239	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs368212467 CA2786035	239	G>S		No	ESP ExAC TOPMed gnomAD ClinGen
rs928975303 CA90933810	240	N>H		No	TOPMed gnomAD ClinGen
CA2786034 rs140457761	243	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	243	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765097046 CA2786032	244	A>P		No	ExAC gnomAD ClinGen
rs1213935593 CA355656512	244	A>V		No	gnomAD ClinGen
rs1266589810 CA355656488	248	Y>H		No	ClinGen gnomAD
CA2786030 rs374039230	249	S>G		No	ESP ExAC TOPMed gnomAD ClinGen
CA90933788 rs202110030	250	P>T		No	1000Genomes gnomAD ClinGen
rs1238932681 CA355656467	251	E>Q		No	ClinGen gnomAD
rs144603437 CA355656455	252	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA355656451 rs1579845087	253	I>V		No	ClinGen Ensembl
CA355656445 rs1216944671	254	Q>E		No	ClinGen TOPMed
rs1306069656 CA355656439	254	Q>H		No	gnomAD ClinGen
rs761005595 CA2786028	255	A>V		No	ExAC gnomAD ClinGen
TCGA novel	256	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA90933747 rs1038980493	256	I>V		No	TOPMed gnomAD ClinGen
CA90933732 rs545192310 COSM1184629	257	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA2786025 rs745877266	258	K>E		No	ExAC TOPMed gnomAD ClinGen
rs1385807197 CA355656418	258	K>R		No	TOPMed gnomAD ClinGen
CA355656408 rs1579844857	259	K>N		No	ClinGen Ensembl
CA90933726 rs1044673041	262	E>V		No	Ensembl ClinGen
rs1418082185 CA355656379	263	E>*		No	gnomAD ClinGen
CA2786023 rs771624244	264	L>P		No	ClinGen ExAC TOPMed gnomAD
CA90933718 rs370655515	264	L>V		No	ClinGen ESP
CA355656352 rs1478748246	267	V>A		No	ClinGen TOPMed
rs1434192227 CA355656355	267	V>L		No	ClinGen gnomAD
rs1393541230 CA355656348	268	V>M		No	gnomAD ClinGen
CA2786020 rs367827020	269	R>C		No	ClinGen ESP ExAC gnomAD
rs751249430 CA2786018	269	R>H		No	ClinGen ExAC gnomAD
CA2786019 rs751249430	269	R>P		No	ClinGen ExAC gnomAD
CA355656329 rs1190924462	271	D>G		No	ClinGen TOPMed
CA355656319 rs913842521	272	Y>*		No	ClinGen TOPMed gnomAD
CA2786017 rs779504270	273	G>D		No	ExAC gnomAD ClinGen
rs1469823992 CA355656317	273	G>S		No	TOPMed ClinGen
CA355656313 rs779504270	273	G>V		No	ClinGen ExAC gnomAD
CA355656298 rs1215335182	275	K>N		No	ClinGen gnomAD
rs1560299654 CA355656295	276	Y>H		No	ClinGen Ensembl
rs1487102410 CA355656284	277	F>S		No	ClinGen gnomAD
CA355656279 rs1282029108	278	D>H		No	gnomAD ClinGen
rs1282029108 CA355656280 COSM730479	278	D>N	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	gnomAD ClinGen cosmic curated NCI-TCGA
CA2786016 rs147271608	281	I>M		No	ESP ExAC TOPMed gnomAD ClinGen
CA2786014 rs145598252	282	A>S		No	ESP ExAC TOPMed gnomAD ClinGen
CA2786013 rs145598252	282	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs140040785 CA2786012	283	K>M		No	ESP ExAC TOPMed gnomAD ClinGen
CA90933677 rs140040785	283	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA355656243 rs140040785	283	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	286	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355656203 rs1377437114	288	C>*		No	ClinGen gnomAD
CA355656205 rs1398231677	288	C>Y		No	gnomAD ClinGen
CA90933673 rs926042642	289	S>N		No	Ensembl ClinGen
TCGA novel	290	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355656192 rs1414784384	290	S>R		No	gnomAD ClinGen
rs775787132 CA2786009	291	G>A		No	ClinGen ExAC TOPMed gnomAD
CA355656184 rs1220950385	291	G>S		No	ClinGen TOPMed
CA90933640 rs775787132	291	G>V		No	ClinGen ExAC TOPMed gnomAD
rs772364255 CA2786008	292	S>F		No	ClinGen ExAC TOPMed gnomAD
rs759819465 CA2786007	295	T>M		No	ExAC TOPMed gnomAD ClinGen
rs771107212 CA2786005	296	S>F		No	ExAC gnomAD ClinGen
CA355656148 rs1214390697	296	S>T		No	TOPMed ClinGen
rs778095243 CA2786003	297	P>A		No	ClinGen ExAC gnomAD
TCGA novel	297	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770197020 CA2786002	298	V>I		No	ClinGen ExAC TOPMed gnomAD
CA355656110 rs1192425972	300	D>E		No	TOPMed ClinGen
CA2786000 rs781519040 COSM730480	300	D>N	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2785999 rs758109338	302	V>I		No	ExAC gnomAD ClinGen
CA90933581 rs200520797	305	A>T		No	ClinGen gnomAD
CA2785997 rs778442247	305	A>V		No	ExAC gnomAD ClinGen
rs71325611 CA90933580	308	A>G		No	ClinGen Ensembl
COSM209434 CA2785996 rs756705857	308	A>T	large_intestine [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
TCGA novel	312	Y>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355655991 rs1411455214	313	T>S		No	ClinGen gnomAD
rs1400871331 CA355655980	314	R>C		No	gnomAD ClinGen
CA2785992 rs144840608	314	R>H		No	ESP TOPMed gnomAD ClinGen
rs760533836 CA2785989	315	Y>C		No	ExAC gnomAD ClinGen
CA355655949 rs1419355850	316	H>Q		No	TOPMed gnomAD ClinGen
CA90933553 rs887251105	316	H>Y		No	TOPMed ClinGen
CA2785988 rs752493424	318	M>V		No	ClinGen ExAC gnomAD
CA2785986 rs767417205	319	D>E		No	ExAC TOPMed gnomAD ClinGen
CA355655902 rs1184349282	320	Y>S		No	gnomAD ClinGen
rs759881932 CA2785985	321	Y>C		No	ExAC ClinGen
rs766590693 CA2785982	322	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1290662532 CA355655863	323	W>R		No	gnomAD ClinGen
rs1354429802 COSM1043150 CA355655835	325	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA355655833 rs1281504554 COSM3940471	325	R>Q	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs1389722382 CA355655807	327	Q>H		No	Ensembl ClinGen
rs1448658920 CA355655802	328	I>V		No	gnomAD ClinGen
rs201488968 CA2785979	329	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1355602196 CA355655790	329	M>V		No	ClinGen TOPMed
rs1285738147 CA355655757	331	H>L		No	gnomAD ClinGen
CA355655741 rs1396679538	332	L>F		No	gnomAD ClinGen
rs770259888 CA2785978	333	P>S		No	ClinGen ExAC gnomAD
rs748680735 CA2785977	334	G>E		No	ExAC gnomAD ClinGen
CA355655710 rs1560298934	336	I>V		No	ClinGen Ensembl
rs745542224 CA2785974	338	D>A		No	ClinGen ExAC gnomAD
rs745542224 CA355655689	338	D>G		No	ExAC gnomAD ClinGen
CA2785975 rs768985550	338	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA355655691 rs768985550	338	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA90933467 rs993789624	339	M>I		No	Ensembl ClinGen
CA2785973 rs371408136	339	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2785971 rs748690102	340	I>T		No	ExAC gnomAD ClinGen
rs201111186 CA2785972	340	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374296813 CA2785970	341	Y>N		No	ClinGen ESP ExAC TOPMed
CA2785968 rs752650625	343	R>C		No	ClinGen ExAC gnomAD
CA2785966 rs754774070 COSM4152395	343	R>H	kidney [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
rs754774070 CA2785967	343	R>L		No	ClinGen ExAC TOPMed gnomAD
CA355655620 rs1579842669	344	R>C		No	ClinGen Ensembl
TCGA novel	344	R>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q02338

1 regional properties for Q02338

Type	Name	Position	InterPro Accession
conserved_site	Short-chain dehydrogenase/reductase, conserved site	195 - 223	IPR020904

Functions

		Description
EC Number	1.1.1.30	With NAD(+) or NADP(+) as acceptor
Subcellular Localization	Mitochondrion inner membrane Mitochondrion matrix
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

4 GO annotations of cellular component

Name	Definition
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.
matrix side of mitochondrial inner membrane	The side (leaflet) of the mitochondrial inner membrane that faces the matrix.
mitochondrial matrix	The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation.
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.

3 GO annotations of molecular function

Name	Definition
3-hydroxybutyrate dehydrogenase activity	Catalysis of the reaction: (R)-3-hydroxybutanoate + NAD(+) = acetoacetate + H(+) + NADH.
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.

1 GO annotations of biological process

Name	Definition
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
Q8NEX9	SDR9C7	Short-chain dehydrogenase/reductase family 9C member 7	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
MLATRLSRPL	SRLPGKTLSA	CDRENGARRP	LLLGSTSFIP	IGRRTYASAA	EPVGSKAVLV
70	80	90	100	110	120
TGCDSGFGFS	LAKHLHSKGF	LVFAGCLMKD	KGHDGVKELD	SLNSDRLRTV	QLNVCSSEEV
130	140	150	160	170	180
EKVVEIVRSS	LKDPEKGMWG	LVNNAGISTF	GEVEFTSLET	YKQVAEVNLW	GTVRMTKSFL
190	200	210	220	230	240
PLIRRAKGRV	VNISSMLGRM	ANPARSPYCI	TKFGVEAFSD	CLRYEMYPLG	VKVSVVEPGN
250	260	270	280	290	300
FIAATSLYSP	ESIQAIAKKM	WEELPEVVRK	DYGKKYFDEK	IAKMETYCSS	GSTDTSPVID
310	320	330	340
AVTHALTATT	PYTRYHPMDY	YWWLRMQIMT	HLPGAISDMI	YIR