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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 western clawed frog; 1 zebrafish

HCOP human homology predictions: HSD3B7
Protein SuperFamily: bifunctional 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase
Gene Tree: Hsd3b7

Human
homologs
HSD3B7, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 80270
neXtProt AC: NX_Q9H2F3

Human Synonyms: CBAS1, PFIC4, SDR11E3

Human Chr (Location): 16p11.2; chr16:30985110-30989152 (+)  GRCh38.p2

Disease Associations: (1) Diseases Associated with Human HSD3B7

Mutations,
alleles, and
phenotypes
All mutations/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)
Interactions
Hsd3b7 interacts with 127 markers (Mir15a, Mir15b, Mir16-1, ...)
Gene Ontology
(GO)
classifications
Expression
Literature Summary: (2 records)
Data Summary: Results (204)    Tissues (103)    Images (28)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 204
cDNA source data(10)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase hsd3b7 ; ZFIN hsd3b7    NEW 
Molecular
reagents
All nucleic(10) cDNA(10)
Microarray probesets(4)
Other database
links
VEGA Gene Model OTTMUSG00000017308 (Evidence)
Ensembl Gene Model ENSMUSG00000042289 (Evidence)
Entrez Gene 101502 (Evidence)
DoTS DT.101268937, DT.101375063, DT.94330953, DT.94330946
EC 1.1.1.-, 1.1.1.181
Consensus CDS Project CCDS40145.1
International Mouse Phenotyping Consortium Status Hsd3b7
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(33)
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
07/28/2015
MGI 5.22
The Jackson Laboratory