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HSD3B7 (hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7)
Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
80270
Gene nameGene Name - the full gene name approved by the HGNC.
Hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
HSD3B7
SynonymsGene synonyms aliases
CBAS1, PFIC4, SDR11E3
ChromosomeChromosome number
16
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
16p11.2
SummarySummary 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 protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]
SNPsSNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
miRNAmiRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
miRTarBase ID miRNA Experiments Reference
MIRT018942 hsa-miR-335-5p Microarray 18185580
MIRT024008 hsa-miR-1-3p Microarray 18668037
MIRT457336 hsa-miR-1273e PAR-CLIP 23592263
MIRT457337 hsa-miR-6894-5p PAR-CLIP 23592263
MIRT457338 hsa-miR-4722-5p PAR-CLIP 23592263
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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 IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM
HGNC
e!Ensembl
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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 1.1.1.181)
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. Involved in bile acid synthesis (PubMed:11067870). Plays a key role in cell positioning and movement in lymphoid tissues by mediating degradation of 7-alpha,25-dihydroxycholesterol (7-alpha,25-OHC): 7-alpha,25-OHC acts as a ligand for the G protein-coupled receptor GPR183/EBI2, a chemotactic receptor for a number of lymphoid cells.
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
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
 
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
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Causal
Disease name Disease term dbSNP ID References
Liver failure Liver Failure rs118203990, rs118203991, rs118203992, rs387907022, rs201861847, rs796065037, rs759315662, rs368196005, rs796052121, rs369437593, rs367683258, rs766314948, rs368085185, rs770446752, rs753039116, rs776797592, rs1490906786, rs1562849964, rs759960319, rs776597537, rs375350359, rs1573008071, rs1601977105, rs1174791046, rs1019313682
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
Intrahepatic cholestasis Intrahepatic Cholestasis rs121918299, rs80338722, rs80338725, rs80338719, rs80338723, rs80338726, rs72549401, rs11568372, rs1553469602, rs387907317, rs387906354, rs752919965, rs72549397, rs111033609, rs121909099, rs387906381, rs121909100, rs121909101, rs121909104, rs121909105, rs387906526, rs121918440, rs387906527, rs72552778, rs387906529, rs121918443, rs72552780, rs80338724, rs80338715, rs80338727, rs80338729, rs80338716, rs80338717, rs398122839, rs515726137, rs587777519, rs587777520, rs587777521, rs879255644, rs113090017, rs864321695, rs776869985, rs864321697, rs80338720, rs746155190, rs879255504, rs886041948, rs886042562, rs769910565, rs758069019, rs886043807, rs72549402, rs72549395, rs188824058, rs763782349, rs375315619, rs754287486, rs1057518679, rs1060499649, rs1060499579, rs1554660803, rs1554407511, rs774824767, rs771690686, rs752992432, rs1553466082, rs72549396, rs772294884, rs764513998, rs1202682161, rs759202962, rs1562774655, rs1562831765, rs1562945221, rs917981474, rs1558927163, rs765889649, rs1562976061, rs72549399, rs1459273753, rs377160065, rs1559183717, rs760750012, rs1051861187, rs1558898789, rs928915940, rs752757689, rs1584678508, rs764581483, rs1574453508, rs751511532, rs1182781290, rs376368459, rs762702807, rs1578499691, rs199791850, rs1452792080, rs1458423947, rs1584747270, rs1584750653, rs1599066459, rs1599069873, rs1599166106, rs1574462504, rs1593114820, rs1057524081, rs1588081022, rs777460754, rs1251192873, rs1588117076, rs748671901, rs139314808, rs749009273, rs1588080674, rs1588080680, rs1588127136, rs1588135086, rs757693457, rs1574445178, rs768922690, rs1584422832, rs1584433525, rs1312396424, rs1792048079, rs774411820, rs575729461
Cholestasis Cholestasis, Cholestasis, progressive familial intrahepatic 4 rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039 25526675
Unknown
Disease name Disease term dbSNP ID References
Cirrhosis Cirrhosis rs119465999, rs144369314, rs8056684, rs112053857, rs75998507
Bile acid synthesis defect Bile acid synthesis defect, congenital, 1 12679481, 11067870, 27604308
Blood coagulation disorders Blood Coagulation Disorders
Hypocholesterolemia Hypocholesterolemia

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