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SRD5A2 steroid 5 alpha-reductase 2 [ Homo sapiens (human) ]

Gene ID: 6716, updated on 17-May-2020

Summary

Official Symbol
SRD5A2provided by HGNC
Official Full Name
steroid 5 alpha-reductase 2provided by HGNC
Primary source
HGNC:HGNC:11285
See related
Ensembl:ENSG00000277893 MIM:607306
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Summary
This gene encodes a microsomal protein expressed at high levels in androgen-sensitive tissues such as the prostate. The encoded protein is active at acidic pH and is sensitive to the 4-azasteroid inhibitor finasteride. Deficiencies in this gene can result in male pseudohermaphroditism, specifically pseudovaginal perineoscrotal hypospadias (PPSH). [provided by RefSeq, Jul 2008]
Expression
Biased expression in liver (RPKM 13.3), prostate (RPKM 8.5) and 2 other tissues See more
Orthologs

Genomic context

See SRD5A2 in Genome Data Viewer
Location:
2p23.1
Exon count:
10
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (31522480..31665651, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (31749656..31806040, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L21 pseudogene 70 Neighboring gene xanthine dehydrogenase Neighboring gene uncharacterized LOC107985862 Neighboring gene uncharacterized LOC107985863 Neighboring gene long intergenic non-protein coding RNA 1946

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
MedGen: C0268297 OMIM: 264600 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
An atlas of genetic influences on human blood metabolites.
NHGRI GWA Catalog
Novel gene variants predict serum levels of the cytokines IL-18 and IL-1ra in older adults.
NHGRI GWA Catalog

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of steroid-5-alpha-reductase, alpha polypeptide 2 (SRD5A2) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

General gene information

Markers

Homology

Clone Names

  • MGC138457

Gene Ontology Provided by GOA

Function Evidence Code Pubs
3-oxo-5-alpha-steroid 4-dehydrogenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cholestenone 5-alpha-reductase activity IEA
Inferred from Electronic Annotation
more info
 
oxidoreductase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
sterol 5-alpha reductase activity IDA
Inferred from Direct Assay
more info
PubMed 
testosterone dehydrogenase [NAD(P)] activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
androgen biosynthetic process TAS
Traceable Author Statement
more info
 
androgen metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
cell differentiation IEA
Inferred from Electronic Annotation
more info
 
cell-cell signaling TAS
Traceable Author Statement
more info
PubMed 
male genitalia development IEA
Inferred from Electronic Annotation
more info
 
male gonad development IMP
Inferred from Mutant Phenotype
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
steroid biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
testosterone biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
3-oxo-5-alpha-steroid 4-dehydrogenase 2
Names
5 alpha-SR2
S5AR 2
SR type 2
steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
type II 5-alpha reductase
NP_000339.2
XP_011531371.1
XP_011531374.1

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_008365.1 RefSeqGene

    Range
    5001..61386
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000348.4NP_000339.2  3-oxo-5-alpha-steroid 4-dehydrogenase 2

    See identical proteins and their annotated locations for NP_000339.2

    Status: REVIEWED

    Source sequence(s)
    AL133247, BC112252
    Consensus CDS
    CCDS74503.1
    UniProtKB/Swiss-Prot
    P31213
    Related
    ENSP00000477587.1, ENST00000622030.2
    Conserved Domains (1) summary
    pfam02544
    Location:105254
    Steroid_dh; 3-oxo-5-alpha-steroid 4-dehydrogenase

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    31522480..31665651 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011533072.2XP_011531374.1  3-oxo-5-alpha-steroid 4-dehydrogenase 2 isoform X2

    See identical proteins and their annotated locations for XP_011531374.1

    Conserved Domains (1) summary
    pfam02544
    Location:20169
    Steroid_dh; 3-oxo-5-alpha-steroid 4-dehydrogenase
  2. XM_011533069.2XP_011531371.1  3-oxo-5-alpha-steroid 4-dehydrogenase 2 isoform X1

    Conserved Domains (1) summary
    pfam02544
    Location:31180
    Steroid_dh; 3-oxo-5-alpha-steroid 4-dehydrogenase
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