ADHDgene Database

Gene Report

Basic Info

Approved Symbol	HSD3B7
Symbol Alias	C(27)-3BETA-HSD, SDR11E3
Approved Name	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Name Alias	short chain dehydrogenase/reductase family 11E, member 3
Location	16p11.2
Position	chr16:30996519-31000473, +
External Links	HGNC: 18324 Entrez Gene: 80270 Ensembl: ENSG00000099377 UCSC: uc002eaf.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 2)

ID	Location	Size	Band	Type	Inheritance
CNV_Williams[2010]_34	chr16:29342178-31155425 (NCBI Build 36.1 (hg18))	1813248	16p11.2	Loss	De novo
CNV_Williams[2010]_39	chr16:29342178-31155425 (NCBI Build 36.1 (hg18))	1813247	16p11.2	Gain

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 9)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0003854	3-beta-hydroxy-delta5-steroid dehydrogenase activity	Molecular Function	NAS[11067870]	3
GO:0000166	nucleotide binding	Molecular Function		73
GO:0005789	endoplasmic reticulum membrane	Cellular Component		140
GO:0005575	cellular_component	Cellular Component		98
GO:0008206	bile acid metabolic process	Biological Process		8
GO:0006699	bile acid biosynthetic process	Biological Process		4
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0016021	integral to membrane	Cellular Component		845
GO:0047016	cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity	Molecular Function		1

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa00120	Primary bile acid biosynthesis	4	Bile acids are steroid carboxylic acids derived from cholest...... Bile acids are steroid carboxylic acids derived from cholesterol in vertebrates. The primary bile acids, cholic acid and chenodeoxycholic acid, are synthesized in the liver and conjugated with taurine or glycine before secretion via bile into the intestine. The conversion from cholesterol to cholic and chenodeoxycholic acids involves four steps: 1) the initiation of synthesis by 7alpha-hydroxylation of sterol precursors, 2) further modifications to the ring structures, 3) side-chain oxidation and shortening (cleavage) by three carbons, and 4) conjugation of the bile acid with taurine or glycine. More...
hsa01100	Metabolic pathways	237

Genes shared at least 5 GO terms with HSD3B7 (count: 0)

Genes shared at least 2 KEGG pathways with HSD3B7 (count: 3)

Gene Symbol	Pathway Count	Pathway List
AMACR	2	Primary bile acid biosynthesis; Metabolic pathways;
BAAT	2	Primary bile acid biosynthesis; Metabolic pathways;
CYP27A1	2	Primary bile acid biosynthesis; Metabolic pathways;

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Region: chr16:30996519..31000473 View in gBrowse