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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
Location & Maps
more
  • Sequence Map
    Chr7:127800604-127803802 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      3199 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 69.74 cM
  • Mapping Data
    2 experiments
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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
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
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000058631 VEGA Gene Model | MGI Sequence Detail 3199 C57BL/6J ±  kb
    transcript OTTMUST00000042018 VEGA | MGI Sequence Detail 1828 Not Applicable  
    polypeptide OTTMUSP00000018894 VEGA | MGI Sequence Detail 369 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      24 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 10
      cDNA 10

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:2142284
    References
    more
    • Summaries
      All 31
      Developmental Gene Expression 2
      Gene Ontology 5
      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 Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory