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Hsd3b2 Gene Detail
Summary
  • Symbol
    Hsd3b2
  • Name
    hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
  • Feature Type
    protein coding gene
  • IDs
    MGI:96234
    NCBI Gene: 15493
  • Member of
    Hsd3b cluster
  • Alliance
    gene page
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr3:98618423-98631859 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 3, 42.85 cM
  • Mapping Data
    4 experiments
Strain
Comparison
more
  • SNPs within 2kb
    420 from dbSNP Build 142
  • Strain Annotations
    12
  • RFLP
    1
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_96234
 protein coding gene Chr3:98616571-98631859 (-)
129S1/SvImJ no annotation
A/J MGP_AJ_G0027616
 protein coding gene Chr3:96594354-96608885 (-)
AKR/J no annotation
BALB/cJ no annotation
C3H/HeJ MGP_C3HHeJ_G0027358
 protein coding gene Chr3:99219238-99233680 (-)
C57BL/6NJ MGP_C57BL6NJ_G0028072
 protein coding gene Chr3:103421549-103439531 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0025413
 protein coding gene Chr3:92738634-92757127 (-)
CAST/EiJ no annotation
CBA/J MGP_CBAJ_G0027333
 protein coding gene Chr3:107137506-107150872 (-)
DBA/2J MGP_DBA2J_G0027476
 protein coding gene Chr3:95850970-95867472 (-)
FVB/NJ no annotation
LP/J no annotation
NOD/ShiLtJ MGP_NODShiLtJ_G0027475
 protein coding gene Chr3:113235542-113237589 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0028126
 protein coding gene Chr3:98466517-98480306 (-)
PWK/PhJ MGP_PWKPhJ_G0026543
 protein coding gene Chr3:95657020-95672265 (-)
SPRET/EiJ MGP_SPRETEiJ_G0026363
 protein coding gene Chr3:96633270-96647557 (-)
WSB/EiJ MGP_WSBEiJ_G0026894
 protein coding gene Chr3:98995318-99009980 (-)



Homology
more
  • Human Ortholog
    HSD3B1, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
  • Vertebrate Orthologs
    5
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    HSD3B1, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
  • Synonyms
    3BETAHSD, HSD3B, HSDB3, HSDB3A, SDR11E1
  • Links
    NCBI Gene ID: 3283
    neXtProt AC: NX_P14060
    UniProt: P14060

  • Chr Location
    1p12; chr1:119507198-119515058 (+)  GRCh38
  • Human Ortholog
    HSD3B2, hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
  • Synonyms
    HSD3B, HSDB, SDR11E2
  • Links
    NCBI Gene ID: 3284
    neXtProt AC: NX_P26439
    UniProt: P26439

  • Chr Location
    1p12; chr1:119414931-119423035 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with human HSD3B1,HSD3B2 associations

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

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    4 phenotype references
  • All Mutations and Alleles
    2
  • Chemically induced (other)
    1
  • Radiation induced
    1
  • Genomic Mutations
    2 involving Hsd3b2
  • Incidental Mutations
    APF
  • Find Mice (IMSR)
    13 strains or lines available
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    27
  • GO References
    5
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    838
  • Tissues
    110
  • cDNA Data
    14
  • Literature Summary
    6
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 15493 NCBI Gene Model | MGI Sequence Detail 13437 C57BL/6J ±  kb
transcript NM_001359741 RefSeq | MGI Sequence Detail 1853 ZRU/MplStud  
polypeptide P26149 UniProt | EBI | MGI Sequence Detail 373 Not Applicable  
For the selected sequence
Protein
Information
less
  • UniProt
    1 Sequence
  • EC
    1.1.1.145, 5.3.3.1
  • InterPro Domains
    IPR002225 3-beta hydroxysteroid dehydrogenase/isomerase
    IPR050177 Bifunctional lipid A modification and metabolic enzymes
    IPR036291 NAD(P)-binding domain superfamily
Molecular
Reagents
less
  • All nucleic 21
    Genomic 2
    cDNA 16
    Primer pair 3

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-10947
References
more
  • Summaries
    All 36
    Developmental Gene Expression 6
    Diseases 1
    Gene Ontology 5
    Phenotypes 4
  • 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:302829 Lu J, et al., Mouse models for human hyperuricaemia: a critical review. Nat Rev Rheumatol. 2019 Jul;15(7):413-426
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)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory