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Srd5a2 Gene Detail
Summary
  • Symbol
    Srd5a2
  • Name
    steroid 5 alpha-reductase 2
  • Synonyms
    5ART2
  • Feature Type
    protein coding gene
  • IDs
    MGI:2150380
    NCBI Gene: 94224
  • Gene Overview
    MyGene.info: SRD5A2
Location & Maps
more
  • Sequence Map
    Chr17:74017706-74047916 bp, - strand
  • From NCBI annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      30211 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 17, 45.39 cM, cytoband E2
  • Mapping Data
    1 experiment
Homology
more
  • Human Ortholog
    SRD5A2, steroid 5 alpha-reductase 2
  • Vertebrate Orthologs
    11
  • Human Ortholog
    SRD5A2, steroid 5 alpha-reductase 2
    Orthology source: HomoloGene, HGNC
  • Links
    NCBI Gene ID: 6716
    neXtProt AC: NX_P31213

  • Chr Location
    2p23.1; chr2:31522488-31700784 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human SRD5A2 associations

Human Disease Mouse Models
       Pseudovaginal Perineoscrotal Hypospadias; PPSH   OMIM: 264600
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    5 phenotypes from multigenic genotypes
    6 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.
Homozygous null mutant males are fertile, but have small prostates and seminal vesicles, elevated testosterone in reproductive tissue and decreased androgen-dependent gene expression. Mutant females exhibit no detectable abnormality.
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
Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic 94224 NCBI Gene Model | MGI Sequence Detail 30211 C57BL/6J ±  kb
transcript NM_053188 RefSeq | MGI Sequence Detail 854 C57BL/6  
polypeptide Q99N99 UniProt | EBI | MGI Sequence Detail 254 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    203 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
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  • All nucleic 7
    cDNA 6
    Primer pair 1

    Microarray probesets 2
References
more
  • Summaries
    All 32
    Developmental Gene Expression 6
    Gene Ontology 8
    Phenotypes 6
  • Earliest
    J:72807 Mahendroo MS, et al., Unexpected virilization in male mice lacking steroid 5alpha-reductase enzymes. Endocrinology. 2001 Nov;142(11):4652-62
  • Latest
    J:228826 Cisternas CD, et al., Sex chromosome complement determines sex differences in aromatase expression and regulation in the stria terminalis and anterior amygdala of the developing mouse brain. Mol Cell Endocrinol. 2015 Oct 15;414:99-110

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
11/29/2016
MGI 6.06
The Jackson Laboratory