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Hsd3b7
Gene Detail
 Symbol
Name
ID
Hsd3b7
hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
MGI:2141879
Feature Type protein coding gene
Genetic Map
Chromosome 7
69.74 cM
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr7:127785608-127803802 bp, + strand
From VEGA annotation of GRCm38

  18195 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:41617  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 cattle; 1 dog; 1 zebrafish

Protein SuperFamily: bifunctional 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase
Gene Tree: Hsd3b7

Human
homologs
Human Homolog HSD3B7, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
NCBI Gene ID 80270
neXtProt AC  NX_Q9H2F3
Human Synonyms  CBAS1, PFIC4, SDR11E3
Human Chr (Location)  16p11.2; chr16:30984668-30989152 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human HSD3B7
Alleles
and
phenotypes
All alleles(3) : Gene trapped(1) Targeted(2)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a null allele exhibit postnatal lethality, dwarfism, growth retardation, oily and scaly skin, and altered bile salt and lipid homeostasis.
 
Phenotype Images(1)
Gene Ontology
(GO)
classifications
All GO classifications: (38 annotations)
Process oxidation-reduction process, regulation of cell growth, ...
Component endoplasmic reticulum, integral component of membrane, ...
Function 2-hydroxytetrahydrofuran dehydrogenase activity, 3-beta-hydroxy-delta5-steroid dehydrogenase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (2 records)
Data Summary: Results (204)    Tissues (103)    Images (28)
Theiler Stages: 22, 23
Assay TypeResults
RNA in situ 204
cDNA source data(10)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(10) cDNA(10)
Microarray probesets(4)
Other database
links
VEGA Gene ModelOTTMUSG00000017308 (Evidence)
Ensembl Gene ModelENSMUSG00000042289 (Evidence)
Entrez Gene101502 (Evidence)
DoTSDT.101268937, DT.101375063, DT.94330946, DT.94330953
EC1.1.1.-, 1.1.1.181
Consensus CDS ProjectCCDS40145.1
International Mouse Knockout Project StatusHsd3b7
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000017308 VEGA Gene Model | MGI Sequence Detail 18195 C57BL/6J ±  kb
transcript OTTMUST00000042018 VEGA | MGI Sequence Detail 1828 Not Applicable 
polypeptide OTTMUSP00000018894 VEGA | MGI Sequence Detail 369 Not Applicable 

For the selected sequences
All sequences(69) RefSeq(4) UniProt(6)
Polymorphisms SNPs within 2kb(82 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR002225 3-beta hydroxysteroid dehydrogenase/isomerase
InterPro IPR016040 NAD(P)-binding domain
Protein Ontology PR:000008787 3 beta-hydroxysteroid dehydrogenase type 7
References (Earliest) J:111675 Schwarz M, et al., The bile acid synthetic gene 3beta-hydroxy-Delta(5)-C(27)-steroid oxidoreductase is mutated in progressive intrahepatic cholestasis. J Clin Invest. 2000 Nov;106(9):1175-84
(Latest) J:198681 Yi T, et al., EBI2-mediated bridging channel positioning supports splenic dendritic cell homeostasis and particulate antigen capture. Elife. 2013;2:e00757
All references(35)
Other
accession IDs
MGI:2142284

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
07/15/2014
MGI 5.18
The Jackson Laboratory