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Hsd3b7 Gene Detail
Summary
  • Symbol
    Hsd3b7
  • Name
    hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
  • Feature Type
    protein coding gene
  • IDs
    MGI:2141879
    NCBI Gene: 101502
  • Alliance
  • Transcription Start Sites
    4 TSS
Location &
Maps
more
  • Sequence Map
    Chr7:127800604-127803802 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 69.74 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    24 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2141879
protein coding gene Chr7:127800601-127803803 (+)
129S1/SvImJ MGP_129S1SvImJ_G0033055
protein coding gene Chr7:132173532-132178345 (+)
A/J MGP_AJ_G0033038
protein coding gene Chr7:128639861-128643184 (+)
AKR/J MGP_AKRJ_G0032970
protein coding gene Chr7:131966517-131969737 (+)
BALB/cJ MGP_BALBcJ_G0033039
protein coding gene Chr7:128294086-128297306 (+)
C3H/HeJ MGP_C3HHeJ_G0032753
protein coding gene Chr7:131869344-131872546 (+)
C57BL/6NJ MGP_C57BL6NJ_G0033548
protein coding gene Chr7:137325271-137328616 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0030521
protein coding gene Chr7:129841994-129845213 (+)
CAST/EiJ MGP_CASTEiJ_G0032082
protein coding gene Chr7:123665991-123669180 (+)
CBA/J MGP_CBAJ_G0032726
protein coding gene Chr7:141973321-141976559 (+)
DBA/2J MGP_DBA2J_G0032878
protein coding gene Chr7:126621468-126624703 (+)
FVB/NJ MGP_FVBNJ_G0032831
protein coding gene Chr7:126476807-126480007 (+)
LP/J MGP_LPJ_G0032972
protein coding gene Chr7:133647133-133650355 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032863
protein coding gene Chr7:143057491-143061110 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0033568
protein coding gene Chr7:130958840-130962055 (+)
PWK/PhJ MGP_PWKPhJ_G0031789
protein coding gene Chr7:119633313-119636517 (+)
SPRET/EiJ MGP_SPRETEiJ_G0031635
protein coding gene Chr7:117761761-117766174 (+)
WSB/EiJ MGP_WSBEiJ_G0032194
protein coding gene Chr7:131923333-131926966 (+)



Homology
more
  • Human Ortholog
    HSD3B7, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
  • Vertebrate Orthologs
    8
  • Human Ortholog
    HSD3B7, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CBAS1, PFIC4, SDR11E3
  • Links
    NCBI Gene ID: 80270
    neXtProt AC: NX_Q9H2F3
    UniProt: Q9H2F3

  • Chr Location
    16p11.2; chr16:30985189-30989152 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human HSD3B7 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    10 phenotypes from 1 allele in 1 genetic background
    1 images
    5 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Mice homozygous for a null allele exhibit postnatal lethality, dwarfism, growth retardation, oily and scaly skin, and altered bile salt and lipid homeostasis.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell population proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000042289 Ensembl Gene Model | MGI Sequence Detail 3199 C57BL/6J ±  kb
    transcript ENSMUST00000046863 Ensembl | MGI Sequence Detail 1828 Not Applicable  
    polypeptide ENSMUSP00000036245 Ensembl | MGI Sequence Detail 369 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 11
      cDNA 11

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2142284
    References
    more
    • Summaries
      All 32
      Developmental Gene Expression 2
      Gene Ontology 6
      Phenotypes 5
    • 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:233676 Li J, et al., EBI2 augments Tfh cell fate by promoting interaction with IL-2-quenching dendritic cells. Nature. 2016 May 5;533(7601):110-4

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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    last database update
    08/13/2019
    MGI 6.14
    The Jackson Laboratory