Hsd3b6 Gene Detail

Summary

• Symbol
  Hsd3b6
• Name
  hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 6
• Synonyms
  3beta-HSD VI

• Feature Type
  protein coding gene
• IDs
  MGI:109598
  NCBI Gene: 15497
• Member of
  Hsd3b cluster
• Alliance
  gene page
• Transcription Start Sites
  1 TSS

Location &
Maps

• Sequence Map
  Chr3:98712820-98721759 bp, - strand

  From NCBI annotation of GRCm39
  

• View this region in JBrowse
  

• Genome Browsers
  Ensembl | UCSC | NCBI

• Genetic Map
  Chromosome 3, 42.88 cM
• Mapping Data
  1 experiment

Strain
Comparison

• SNPs within 2kb
  86 from dbSNP Build 142
• Strain Annotations
  12

Strain	Gene Model ID	Feature Type	Coordinates
C57BL/6J	MGI_C57BL6J_109598	protein coding gene	Chr3:98712820-98721759 (-)
129S1/SvImJ	no annotation
A/J	no annotation
AKR/J	MGP_AKRJ_G0027584	protein coding gene	Chr3:98987256-99000332 (-)
BALB/cJ	MGP_BALBcJ_G0027631	protein coding gene	Chr3:96483336-96494839 (-)
C3H/HeJ	MGP_C3HHeJ_G0027360	protein coding gene	Chr3:99322644-99334412 (-)
C57BL/6NJ	MGP_C57BL6NJ_G0028074	protein coding gene	Chr3:103551824-103563966 (-)
CAROLI/EiJ	MGP_CAROLIEiJ_G0025415	protein coding gene	Chr3:92740439-92996947 (-)
CAST/EiJ	no annotation
CBA/J	MGP_CBAJ_G0027335	protein coding gene	Chr3:107239828-107248656 (-)
DBA/2J	MGP_DBA2J_G0027478	protein coding gene	Chr3:95948233-95958036 (-)
FVB/NJ	no annotation
LP/J	MGP_LPJ_G0027585	protein coding gene	Chr3:101214000-101223878 (-)
NOD/ShiLtJ	MGP_NODShiLtJ_G0027474	protein coding gene	Chr3:113235486-113326315 (-)
NZO/HlLtJ	no annotation
PWK/PhJ	no annotation
SPRET/EiJ	MGP_SPRETEiJ_G0026364	protein coding gene	Chr3:96635073-96706925 (-)
WSB/EiJ	MGP_WSBEiJ_G0026895	protein coding gene	Chr3:98995366-99123567 (-)

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
  Hsd3b6 stringent orthology
  2 human;1 mouse;1 rat;2 zebrafish
  
• HCOP
  vertebrate homology predictions: HSD3B1, HSD3B2
• Gene Tree
  Hsd3b6
  

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
  5 phenotype references
  

• All Mutations and Alleles
  4
• Chemically induced (other)
  1
• Endonuclease-mediated
  2
• Radiation induced
  1
• Genomic Mutations
  2 involving Hsd3b6
• Incidental Mutations
  APF
• Find Mice (IMSR)
  21 strains or lines available

Gene Ontology
(GO)
Classifications

• All GO Annotations
  25
• GO References
  5

Expression

• Assay Results
  878
• Tissues
  122
• cDNA Data
  25
• Literature Summary
  18

Images

Tissue x Stage Matrix

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

Sequences &
Gene Models

• All Sequences
  31
• RefSeq
  2
• UniProt
  4
• CCDS
  CCDS17669.1

• Ensembl
  ENSMUSG00000027869 (Evidence)
• NCBI Gene
  15497

Representative Sequences			Length	Strain/Species
genomic	15497	NCBI Gene Model | MGI Sequence Detail	8940	C57BL/6J
transcript	NM_013821	RefSeq | MGI Sequence Detail	1821	C57BL/6
polypeptide	O35469	UniProt | EBI | MGI Sequence Detail	373	Not Applicable

Protein
Information

• UniProt
  4 Sequences
• Protein Ontology
  PR:000008870 3 beta-hydroxysteroid dehydrogenase/Delta 5-->4-isomerase type 6
  (term hierarchy)
• EC
  1.1.1.-, 1.1.1.145, 5.3.3.1
• InterPro Domains
  IPR002225 3-beta hydroxysteroid dehydrogenase/isomerase
  IPR036291 NAD(P)-binding domain superfamily

Molecular
Reagents

• All nucleic 33

  Genomic 1

  cDNA 25

  Primer pair 7

  
  

  Microarray probesets 3

Other
Accession IDs

MGD-MRK-39597, MGI:2140104

References

• Summaries
  All 51

  Developmental Gene Expression 18

  Diseases 1

  Gene Ontology 5

  Phenotypes 5
• Earliest
  J:33962 Clarke TR, et al., Isolation and characterization of several members of the murine Hsd3b gene family. DNA Cell Biol. 1996 May;15(5):387-99
• Latest
  J:347048 Sasaki L, et al., Intracrine activity involving NAD-dependent circadian steroidogenic activity governs age-associated meibomian gland dysfunction. Nat Aging. 2022 Feb;2(2):105-114

TSS for Hsd3b6:

(View these features in JBrowse)

Transcription Start Site	Location	Distance from Gene 5'-end
Tssr34706	Chr3:98721750-98721765 (-)	1 bp