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

• 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

• SNPs within 2kb
  420 from dbSNP Build 142
• Strain Annotations
  12
• RFLP
  1

Strain	Gene Model ID	Feature Type	Coordinates
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

• 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
  HGNC:5217

  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
  HGNC:5218

  NCBI Gene ID: 3284

  neXtProt AC: NX_P26439

  UniProt: P26439

  
  
• Chr Location
  1p12; chr1:119414931-119423035 (+)  GRCh38

---

• MGI Vertebrate Homology
  Hsd3b2 stringent orthology
  2 human;1 mouse;1 rat;2 zebrafish
  
• HCOP
  vertebrate homology predictions: HSD3B1, HSD3B2
• Gene Tree
  Hsd3b2
  

Human Diseases

• Diseases
  2 with human HSD3B1,HSD3B2 associations

				Human Disease	Mouse Models
				hypertension IDs hypertension       DOID:10763 EFO:0000537 ICD10CM:I10 ICD9CM:401-405.99 ICD9CM:997.91 MESH:D006973 NCI:C3117 UMLS_CUI:C0020538
				hypospadias IDs hypospadias       DOID:10892 ICD10CM:Q54 MESH:D007021 NCI:C40341 OMIM:146450 OMIM:300633 OMIM:300758 OMIM:300856 ORDO:440 UMLS_CUI:C0848558

Click on a disease name to see all genes associated with that disease.

• References
  1 with disease annotations

Mutations,
Alleles, and
Phenotypes

• 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

• All GO Annotations
  27
• GO References
  5

Expression

• Assay Results
  838
• Tissues
  110
• cDNA Data
  14
• Literature Summary
  6

Tissue x Stage Matrix

• Other Mouse Links
  Allen Institute
  GEO
  Expression Atlas
• Other Vertebrate Links
  GEISHA HSD3B1

Sequences &
Gene Models

• All Sequences
  31
• RefSeq
  6
• UniProt
  1
• CCDS
  CCDS17667.1

• Ensembl
  ENSMUSG00000063730 (Evidence)
• NCBI Gene
  15493

Representative Sequences			Length	Strain/Species
genomic	15493	NCBI Gene Model | MGI Sequence Detail	13437	C57BL/6J
transcript	NM_001359741	RefSeq | MGI Sequence Detail	1853	ZRU/MplStud
polypeptide	P26149	UniProt | EBI | MGI Sequence Detail	373	Not Applicable

Protein
Information

• 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

• All nucleic 21

  Genomic 2

  cDNA 16

  Primer pair 3

  
  

  Microarray probesets 3

Other
Accession IDs

MGD-MRK-10947

References

• 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

TSS for Hsd3b2:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr34703	Chr3:98631870-98631893 (-)	-23 bp
Tssr34702	Chr3:98631209-98631241 (-)	634 bp