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Hsd3b3 Gene Detail
Summary
  • Symbol
    Hsd3b3
  • Name
    hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 3
  • Synonyms
    9030618K22Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:96235
    NCBI Gene: 15494
  • Member of
    Hsd3b cluster
Location & Maps
more
  • Sequence Map
    Chr3:98741523-98763127 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      21605 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 3, 42.86 cM
  • Mapping Data
    6 experiments
Homology
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  • Human Ortholog
    HSD3B1, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
  • Vertebrate Orthologs
    6
  • Human Ortholog
    HSD3B1, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
    Orthology source: HomoloGene, HGNC
  • Synonyms
    3BETAHSD, HSD3B, HSDB3, HSDB3A, I, SDR11E1
  • Links
    NCBI Gene ID: 3283
    neXtProt AC: NX_P14060

  • Chr Location
    1p13.1; chr1:119507124-119515060 (+)  GRCh38.p2

  • Human Ortholog
    HSD3B2, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
    Orthology source: HGNC
  • Synonyms
    HSD3B, HSDB, SDR11E2
  • Links
    NCBI Gene ID: 3284
    neXtProt AC: NX_P26439

  • Chr Location
    1p13.1; chr1:119414931-119423039 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human HSD3B2 associations

Human Disease Mouse Models
       Adrenal Hyperplasia, Congenital, Due to 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency   OMIM: 201810
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotype references
  • All Mutations and Alleles
    2
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Genomic Mutations
    2 involving Hsd3b3
  • Incidental Mutations
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
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
  • Other Mouse Links
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006703 VEGA Gene Model | MGI Sequence Detail 21605 C57BL/6J ±  kb
transcript OTTMUST00000015502 VEGA | MGI Sequence Detail 1533 Not Applicable  
polypeptide OTTMUSP00000007147 VEGA | MGI Sequence Detail 373 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    91 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    4 Sequences
  • Protein Ontology
    PR:000008867 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 3
  • EC
  • InterPro Domains
    IPR002225 3-beta hydroxysteroid dehydrogenase/isomerase
    IPR016040 NAD(P)-binding domain
Molecular
Reagents
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  • All nucleic 17
    Genomic 2
    cDNA 12
    Primer pair 3

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-10948, MGI:1918777, MGI:2139796
References
more
  • Summaries
    All 32
    Developmental Gene Expression 4
    Gene Ontology 5
    Phenotypes 3
  • Earliest
    J:29466 Bain PA, et al., Multiple forms of mouse 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4 isomerase and differential expression in gonads, adrenal glands, liver, and kidneys of both sexes. Proc Natl Acad Sci U S A. 1991 Oct 15;88(20):8870-4
  • Latest
    J:153498 Diez-Roux G, et al., A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol. 2011;9(1):e1000582

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
09/27/2016
MGI 6.05
The Jackson Laboratory