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

2014-11-01  

Identity

HGNC
LOCATION
16p11.2
LOCUSID
ALIAS
CBAS1,PFIC4,SDR11E3

Other Information

Locus ID:

NCBI: 80270
MIM: 607764
HGNC: 18324
Ensembl: ENSG00000099377

Variants:

dbSNP: 80270
ClinVar: 80270
TCGA: ENSG00000099377
COSMIC: HSD3B7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000099377ENST00000262520Q9H2F3
ENSG00000099377ENST00000297679Q9H2F3
ENSG00000099377ENST00000562932I3L2Q9
ENSG00000099377ENST00000574447I3L2H6

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Primary bile acid biosynthesisKEGGko00120
Primary bile acid biosynthesisKEGGhsa00120
Metabolic pathwaysKEGGhsa01100
Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholateKEGGhsa_M00104
Bile acid biosynthesis, cholesterol => cholate/chenodeoxycholateKEGGM00104
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Bile acid and bile salt metabolismREACTOMER-HSA-194068
Synthesis of bile acids and bile saltsREACTOMER-HSA-192105
Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterolREACTOMER-HSA-193368
Synthesis of bile acids and bile salts via 24-hydroxycholesterolREACTOMER-HSA-193775
Synthesis of bile acids and bile salts via 27-hydroxycholesterolREACTOMER-HSA-193807

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA166160055cholic acidChemicalLabelAnnotationassociated

References

Pubmed IDYearTitleCitations
210443672010An integrative method for scoring candidate genes from association studies: application to warfarin dosing.11
220957802012Homozygosity mapping identifies a bile acid biosynthetic defect in an adult with cirrhosis of unknown etiology.6
267124412016Novel Mutations in the 3β-hydroxy-∆5-C27-steroid Dehydrogenase Gene (HSD3B7) in a Patient with Neonatal Cholestasis.5
205312542010Molecular genetic and bile acid profiles in two Japanese patients with 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase deficiency.4
296708162018The association between HSD3B7 gene variant and Parkinson's disease in ethnic Chinese.1
264503652015Expression of steroid sulfated transporters and 3β-HSD activity in endometrium of women having polycystic ovary syndrome.0

Citation

Dessen P

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

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/64438/hsd3b7