Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80270
Gene name Gene Name - the full gene name approved by the HGNC.
Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
HSD3B7
Synonyms (NCBI Gene) Gene synonyms aliases
CBAS1, PFIC4, SDR11E3
Disease Acronyms (UniProt) Disease acronyms from UniProt database
CBAS1, PFIC4
Chromosome Chromosome number
16
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003854 Function 3-beta-hydroxy-delta5-steroid dehydrogenase activity NAS 11067870
GO:0003854 Function 3-beta-hydroxy-delta5-steroid dehydrogenase activity TAS
GO:0005515 Function Protein binding IPI 25416956, 32296183
GO:0005789 Component Endoplasmic reticulum membrane TAS
GO:0005811 Component Lipid droplet IDA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607764 18324 ENSG00000099377
Protein
UniProt ID 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
Sequence length 369
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  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
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cholestasis Cholestasis, Cholestasis, progressive familial intrahepatic 4 rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 25526675
Congenital bile acid synthesis defect Congenital bile acid synthesis defect type 1 rs397514442, rs397514443, rs387906288, rs104894518, rs786200876, rs121918343, rs267606650, rs121917814, rs121917816, rs72554620, rs786205627, rs200737038, rs1057519329, rs1433614577, rs1315777461
Hyperbilirubinemia Hyperbilirubinemia rs34993780, rs587784535, rs797046090, rs797046091
Intrahepatic cholestasis Intrahepatic Cholestasis rs121918299, rs80338722, rs80338725, rs80338719, rs80338723, rs80338726, rs72549401, rs11568372, rs1553469602, rs387907317, rs387906354, rs752919965, rs72549397, rs111033609, rs121909099
View all (111 more)
Unknown
Disease term Disease name Evidence References Source
Cirrhosis Cirrhosis ClinVar
Congenital Bile Acid Synthesis Defect congenital bile acid synthesis defect 1 GenCC
Associations from Text Mining
Disease Name Relationship Type References
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