Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	80270
Gene name	Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Gene symbol	HSD3B7
Synonyms (NCBI Gene)	CBAS1PFIC4SDR11E3
Chromosome	16
Chromosome location	16p11.2
Summary	This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum pro

Show/Hide all (14)

SNP ID	Visualize variation	Clinical significance	Consequence
rs104894518	G>A	Pathogenic	Coding sequence variant, missense variant
rs139152685	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant
rs143699328	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs387906288	G>T	Pathogenic	Splice donor variant
rs397514442	CT>-	Pathogenic	Frameshift variant, coding sequence variant, 3 prime UTR variant
rs397514443	->C	Pathogenic	Frameshift variant, coding sequence variant
rs530793570	G>A,C	Pathogenic	Splice donor variant
rs746926891	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, 3 prime UTR variant
rs786200876	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs786205627	T>-	Likely-pathogenic	Splice donor variant, intron variant
rs886043511	T>-	Pathogenic	Frameshift variant, 3 prime UTR variant, coding sequence variant
rs1555492659	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567370784	GTAGACGTGTTTGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1567371518	C>-	Pathogenic	Stop gained, coding sequence variant

209

Show/Hide all (209)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018942	hsa-miR-335-5p	Microarray	18185580
MIRT024008	hsa-miR-1-3p	Microarray	18668037
MIRT457348	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT457347	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT457346	hsa-miR-940	PAR-CLIP	23592263
MIRT457345	hsa-miR-4459	PAR-CLIP	23592263
MIRT457344	hsa-miR-665	PAR-CLIP	23592263
MIRT457343	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT457342	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT457341	hsa-miR-1827	PAR-CLIP	23592263
MIRT457340	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT457339	hsa-miR-6086	PAR-CLIP	23592263
MIRT457338	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT457337	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT457336	hsa-miR-1273e	PAR-CLIP	23592263
MIRT457348	hsa-miR-6808-5p	PAR-CLIP	23592263
MIRT457347	hsa-miR-6893-5p	PAR-CLIP	23592263
MIRT457346	hsa-miR-940	PAR-CLIP	23592263
MIRT457345	hsa-miR-4459	PAR-CLIP	23592263
MIRT457344	hsa-miR-665	PAR-CLIP	23592263
MIRT457343	hsa-miR-6840-3p	PAR-CLIP	23592263
MIRT457342	hsa-miR-4649-3p	PAR-CLIP	23592263
MIRT457341	hsa-miR-1827	PAR-CLIP	23592263
MIRT457340	hsa-miR-377-5p	PAR-CLIP	23592263
MIRT457339	hsa-miR-6086	PAR-CLIP	23592263
MIRT457338	hsa-miR-4722-5p	PAR-CLIP	23592263
MIRT457337	hsa-miR-6894-5p	PAR-CLIP	23592263
MIRT457336	hsa-miR-1273e	PAR-CLIP	23592263
MIRT1055499	hsa-miR-1	CLIP-seq
MIRT1055500	hsa-miR-10a	CLIP-seq
MIRT1055501	hsa-miR-10b	CLIP-seq
MIRT1055502	hsa-miR-1225-3p	CLIP-seq
MIRT1055503	hsa-miR-1233	CLIP-seq
MIRT1055504	hsa-miR-1299	CLIP-seq
MIRT1055505	hsa-miR-1301	CLIP-seq
MIRT1055506	hsa-miR-1976	CLIP-seq
MIRT1055507	hsa-miR-206	CLIP-seq
MIRT1055508	hsa-miR-3130-3p	CLIP-seq
MIRT1055509	hsa-miR-3135b	CLIP-seq
MIRT1055510	hsa-miR-3173-5p	CLIP-seq
MIRT1055511	hsa-miR-3174	CLIP-seq
MIRT1055512	hsa-miR-3176	CLIP-seq
MIRT1055513	hsa-miR-3194-3p	CLIP-seq
MIRT1055514	hsa-miR-3199	CLIP-seq
MIRT1055515	hsa-miR-3614-5p	CLIP-seq
MIRT1055516	hsa-miR-3652	CLIP-seq
MIRT1055517	hsa-miR-3673	CLIP-seq
MIRT1055518	hsa-miR-370	CLIP-seq
MIRT1055519	hsa-miR-3914	CLIP-seq
MIRT1055520	hsa-miR-3922-3p	CLIP-seq
MIRT1055521	hsa-miR-3928	CLIP-seq
MIRT1055522	hsa-miR-3934	CLIP-seq
MIRT1055523	hsa-miR-3942-5p	CLIP-seq
MIRT1055524	hsa-miR-4281	CLIP-seq
MIRT1055525	hsa-miR-4293	CLIP-seq
MIRT1055526	hsa-miR-4430	CLIP-seq
MIRT1055527	hsa-miR-4433	CLIP-seq
MIRT1055528	hsa-miR-4505	CLIP-seq
MIRT1055529	hsa-miR-4660	CLIP-seq
MIRT1055530	hsa-miR-4703-5p	CLIP-seq
MIRT1055531	hsa-miR-4725-5p	CLIP-seq
MIRT1055532	hsa-miR-4740-5p	CLIP-seq
MIRT1055533	hsa-miR-4747-5p	CLIP-seq
MIRT1055534	hsa-miR-4786-5p	CLIP-seq
MIRT1055535	hsa-miR-4793-3p	CLIP-seq
MIRT1055536	hsa-miR-504	CLIP-seq
MIRT1055537	hsa-miR-5047	CLIP-seq
MIRT1055538	hsa-miR-613	CLIP-seq
MIRT1055539	hsa-miR-765	CLIP-seq
MIRT1055540	hsa-miR-769-5p	CLIP-seq
MIRT1055541	hsa-miR-875-3p	CLIP-seq
MIRT1055542	hsa-miR-921	CLIP-seq
MIRT1055499	hsa-miR-1	CLIP-seq
MIRT1055502	hsa-miR-1225-3p	CLIP-seq
MIRT1055503	hsa-miR-1233	CLIP-seq
MIRT1055504	hsa-miR-1299	CLIP-seq
MIRT1055505	hsa-miR-1301	CLIP-seq
MIRT1055507	hsa-miR-206	CLIP-seq
MIRT2012696	hsa-miR-3122	CLIP-seq
MIRT1055509	hsa-miR-3135b	CLIP-seq
MIRT1055513	hsa-miR-3194-3p	CLIP-seq
MIRT1055515	hsa-miR-3614-5p	CLIP-seq
MIRT1055516	hsa-miR-3652	CLIP-seq
MIRT1055517	hsa-miR-3673	CLIP-seq
MIRT2012697	hsa-miR-3689a-3p	CLIP-seq
MIRT2012698	hsa-miR-3689c	CLIP-seq
MIRT2012699	hsa-miR-3913-5p	CLIP-seq
MIRT1055519	hsa-miR-3914	CLIP-seq
MIRT1055521	hsa-miR-3928	CLIP-seq
MIRT2012700	hsa-miR-3929	CLIP-seq
MIRT1055523	hsa-miR-3942-5p	CLIP-seq
MIRT1055524	hsa-miR-4281	CLIP-seq
MIRT1055525	hsa-miR-4293	CLIP-seq
MIRT2012701	hsa-miR-4419b	CLIP-seq
MIRT1055526	hsa-miR-4430	CLIP-seq
MIRT1055527	hsa-miR-4433	CLIP-seq
MIRT2012702	hsa-miR-4478	CLIP-seq
MIRT1055528	hsa-miR-4505	CLIP-seq
MIRT1055529	hsa-miR-4660	CLIP-seq
MIRT2012703	hsa-miR-4695-5p	CLIP-seq
MIRT2012704	hsa-miR-4703-3p	CLIP-seq
MIRT1055530	hsa-miR-4703-5p	CLIP-seq
MIRT2012705	hsa-miR-4721	CLIP-seq
MIRT2012706	hsa-miR-4728-5p	CLIP-seq
MIRT2012707	hsa-miR-4738-5p	CLIP-seq
MIRT1055533	hsa-miR-4747-5p	CLIP-seq
MIRT2012708	hsa-miR-4768-3p	CLIP-seq
MIRT2012709	hsa-miR-485-5p	CLIP-seq
MIRT2012710	hsa-miR-493	CLIP-seq
MIRT1055537	hsa-miR-5047	CLIP-seq
MIRT1055538	hsa-miR-613	CLIP-seq
MIRT1055539	hsa-miR-765	CLIP-seq
MIRT1055541	hsa-miR-875-3p	CLIP-seq
MIRT1055500	hsa-miR-10a	CLIP-seq
MIRT1055501	hsa-miR-10b	CLIP-seq
MIRT1055502	hsa-miR-1225-3p	CLIP-seq
MIRT2245075	hsa-miR-1228	CLIP-seq
MIRT1055503	hsa-miR-1233	CLIP-seq
MIRT2245076	hsa-miR-1262	CLIP-seq
MIRT2245077	hsa-miR-339-5p	CLIP-seq
MIRT2245078	hsa-miR-342-3p	CLIP-seq
MIRT1055515	hsa-miR-3614-5p	CLIP-seq
MIRT2245079	hsa-miR-3667-5p	CLIP-seq
MIRT2245080	hsa-miR-3925-3p	CLIP-seq
MIRT2012700	hsa-miR-3929	CLIP-seq
MIRT1055523	hsa-miR-3942-5p	CLIP-seq
MIRT1055525	hsa-miR-4293	CLIP-seq
MIRT2012701	hsa-miR-4419b	CLIP-seq
MIRT2245081	hsa-miR-4421	CLIP-seq
MIRT1055527	hsa-miR-4433	CLIP-seq
MIRT2012702	hsa-miR-4478	CLIP-seq
MIRT2245082	hsa-miR-451b	CLIP-seq
MIRT2012703	hsa-miR-4695-5p	CLIP-seq
MIRT2245083	hsa-miR-4696	CLIP-seq
MIRT2245084	hsa-miR-4701-3p	CLIP-seq
MIRT1055530	hsa-miR-4703-5p	CLIP-seq
MIRT1055531	hsa-miR-4725-5p	CLIP-seq
MIRT2012708	hsa-miR-4768-3p	CLIP-seq
MIRT1055535	hsa-miR-4793-3p	CLIP-seq
MIRT2012709	hsa-miR-485-5p	CLIP-seq
MIRT1055536	hsa-miR-504	CLIP-seq
MIRT2245085	hsa-miR-508-5p	CLIP-seq
MIRT2245086	hsa-miR-542-3p	CLIP-seq
MIRT2245087	hsa-miR-610	CLIP-seq
MIRT2245088	hsa-miR-622	CLIP-seq
MIRT1055500	hsa-miR-10a	CLIP-seq
MIRT1055501	hsa-miR-10b	CLIP-seq
MIRT2451413	hsa-miR-3065-5p	CLIP-seq
MIRT2245077	hsa-miR-339-5p	CLIP-seq
MIRT2451414	hsa-miR-3613-3p	CLIP-seq
MIRT2245079	hsa-miR-3667-5p	CLIP-seq
MIRT2451415	hsa-miR-371-5p	CLIP-seq
MIRT2451416	hsa-miR-371b-5p	CLIP-seq
MIRT2245081	hsa-miR-4421	CLIP-seq
MIRT1055531	hsa-miR-4725-5p	CLIP-seq
MIRT1055534	hsa-miR-4786-5p	CLIP-seq
MIRT1055536	hsa-miR-504	CLIP-seq
MIRT2451417	hsa-miR-548ac	CLIP-seq
MIRT2451418	hsa-miR-548ae	CLIP-seq
MIRT2451419	hsa-miR-548aj	CLIP-seq
MIRT2451420	hsa-miR-548am	CLIP-seq
MIRT2451421	hsa-miR-548d-3p	CLIP-seq
MIRT2451422	hsa-miR-548x	CLIP-seq
MIRT2451423	hsa-miR-548z	CLIP-seq
MIRT2451424	hsa-miR-593	CLIP-seq
MIRT1055540	hsa-miR-769-5p	CLIP-seq
MIRT1055500	hsa-miR-10a	CLIP-seq
MIRT1055501	hsa-miR-10b	CLIP-seq
MIRT2245077	hsa-miR-339-5p	CLIP-seq
MIRT2451414	hsa-miR-3613-3p	CLIP-seq
MIRT2245079	hsa-miR-3667-5p	CLIP-seq
MIRT2451415	hsa-miR-371-5p	CLIP-seq
MIRT2451416	hsa-miR-371b-5p	CLIP-seq
MIRT2245081	hsa-miR-4421	CLIP-seq
MIRT1055531	hsa-miR-4725-5p	CLIP-seq
MIRT1055536	hsa-miR-504	CLIP-seq
MIRT1055500	hsa-miR-10a	CLIP-seq
MIRT1055501	hsa-miR-10b	CLIP-seq
MIRT2451413	hsa-miR-3065-5p	CLIP-seq
MIRT2245077	hsa-miR-339-5p	CLIP-seq
MIRT2451414	hsa-miR-3613-3p	CLIP-seq
MIRT2245079	hsa-miR-3667-5p	CLIP-seq
MIRT2451415	hsa-miR-371-5p	CLIP-seq
MIRT2451416	hsa-miR-371b-5p	CLIP-seq
MIRT1055524	hsa-miR-4281	CLIP-seq
MIRT2245081	hsa-miR-4421	CLIP-seq
MIRT1055531	hsa-miR-4725-5p	CLIP-seq
MIRT1055534	hsa-miR-4786-5p	CLIP-seq
MIRT1055536	hsa-miR-504	CLIP-seq
MIRT2451417	hsa-miR-548ac	CLIP-seq
MIRT2451418	hsa-miR-548ae	CLIP-seq
MIRT2451419	hsa-miR-548aj	CLIP-seq
MIRT2451420	hsa-miR-548am	CLIP-seq
MIRT2451421	hsa-miR-548d-3p	CLIP-seq
MIRT2451422	hsa-miR-548x	CLIP-seq
MIRT2451423	hsa-miR-548z	CLIP-seq
MIRT2451424	hsa-miR-593	CLIP-seq
MIRT1055540	hsa-miR-769-5p	CLIP-seq
MIRT1055500	hsa-miR-10a	CLIP-seq
MIRT1055501	hsa-miR-10b	CLIP-seq
MIRT2245077	hsa-miR-339-5p	CLIP-seq
MIRT2451414	hsa-miR-3613-3p	CLIP-seq
MIRT2245079	hsa-miR-3667-5p	CLIP-seq
MIRT2451415	hsa-miR-371-5p	CLIP-seq
MIRT2451416	hsa-miR-371b-5p	CLIP-seq
MIRT1055524	hsa-miR-4281	CLIP-seq
MIRT2245081	hsa-miR-4421	CLIP-seq
MIRT1055531	hsa-miR-4725-5p	CLIP-seq
MIRT1055536	hsa-miR-504	CLIP-seq

Show/Hide all (18)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003854	Function	3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity	NAS	11067870
GO:0003854	Function	3-beta-hydroxy-Delta5-steroid dehydrogenase (NAD+) activity	TAS
GO:0005515	Function	Protein binding	IPI	25416956, 32296183
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	TAS
GO:0005811	Component	Lipid droplet	IDA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006694	Process	Steroid biosynthetic process	IEA
GO:0006699	Process	Bile acid biosynthetic process	TAS	11067870
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IBA
GO:0016616	Function	Oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	IEA
GO:0035754	Process	B cell chemotaxis	IEA
GO:0035754	Process	B cell chemotaxis	ISS
GO:0047016	Function	Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	IEA
GO:0047016	Function	Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	ISS

MIM	HGNC	e!Ensembl
607764	18324	ENSG00000099377

Q9H2F3

Protein name

3 beta-hydroxysteroid dehydrogenase type 7 (3 beta-hydroxysteroid dehydrogenase type VII) (3-beta-HSD VII) (3-beta-hydroxy-Delta(5)-C27 steroid oxidoreductase) (C(27) 3-beta-HSD) (EC 1.1.1.-) (Cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase) (EC 1.

Protein function

The 3-beta-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids. HSD VII is active against four 7-alpha-hydroxylated sterols. Does not metabolize several different C(19/21) steroids as substrates. Inv

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01073	3Beta_HSD	13 → 290	3-beta hydroxysteroid dehydrogenase/isomerase family	Family

Sequence

MADSAQAQKLVYLVTGGCGFLGEHVVRMLLQREPRLGELRVFDQHLGPWLEELKTGPVRV
TAIQGDVTQAHEVAAAVAGAHVVIHTAGLVDVFGRASPKTIHEVNVQGTRNVIEACVQTG
TRFLVYTSSMEVVGPNTKGHPFYRGNEDTPYEAVHRHPYPCSKALAEWLVLEANGRKVRG
GLPLVTCALRPTGIYGEGHQIMRDFYRQGLRLGGWLFRAIPASVEHGRVYVGNVAWMHVL
AARELEQRATLMGGQVYFCYDGSPYRSYEDFNMEFLGPCGLRLVGARPLLPYWLLVFLAA
LNALLQWLLRPLVLYAPLLNPYTLAVANTTFTVSTDKAQRHFGYEPLFSWEDSRTRTILW
VQAATGSAQ

Sequence length

369

Interactions

View interactions

	KEGG		Reactome
	Primary bile acid biosynthesis Metabolic pathways		Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol Synthesis of bile acids and bile salts via 24-hydroxycholesterol Synthesis of bile acids and bile salts via 27-hydroxycholesterol

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital bile acid synthesis defect	Pathogenic	rs786200876	RCV004798714
Congenital bile acid synthesis defect 1	Likely pathogenic; Pathogenic	rs560826820, rs397514442, rs397514443, rs387906288, rs104894518, rs786200876, rs786205627, rs2056470234, rs775934717, rs2543933911	RCV001332605 RCV000003015 RCV000003016 RCV000003017 RCV000003018 RCV000003019 RCV003989486 RCV003338018 RCV005021934 RCV003448839
HSD3B7-related disorder	Pathogenic; Likely pathogenic	rs786200876, rs886043511, rs775934717, rs775260292	RCV003407263 RCV003401255 RCV003399608 RCV003951486

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Uncertain significance	rs374469295	RCV005898727
Familial cancer of breast	Benign	rs75306226	RCV005928526
Neonatal hemochromatosis	Uncertain significance; Likely benign	rs961318568, rs117126734	RCV003326059 RCV003326060

Show/Hide Text Mining Associations (11)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adrenoleukodystrophy	Associate	30544401
Bile Acid Malabsorption Primary	Associate	36750304
Bile acid synthesis defect congenital 1	Stimulate	22095780
Bile acid synthesis defect congenital 1	Associate	22095780, 34627351
Cholestasis	Associate	34627351
Hypospadias	Associate	32515122
Immunologic Deficiency Syndromes	Inhibit	34627351
Liver Diseases	Associate	17645593, 34627351
Liver Failure	Associate	17645593, 36750304
Metabolism Inborn Errors	Associate	17645593
Parkinson Disease	Associate	29670816

HSD3B7 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7)