View SRD5A2 gene homepage

General information
Gene symbol SRD5A2
Gene name steroid 5 alpha-reductase 2
Chromosome 2
Chromosomal band p23.1
Imprinted Not imprinted
Genomic reference NG_008365.1
Transcript reference NM_000348.3, XM_011533068.1, XM_011533069.1, XM_011533070.1, XM_011533071.1, XM_011533072.1
Associated with diseases PPSH
Citation reference(s) -
Curators (3) Anastasia Raoukka, Carsten W Lederer and Savvas Nikolaou
Total number of public variants reported 2
Unique public DNA variants reported 2
Individuals with public variants 0
Hidden variants 0
Date created June 16, 2016
Date last updated July 01, 2016
Version SRD5A2:160701

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 11285
Entrez Gene 6716
PubMed articles SRD5A2
OMIM - Gene 607306
OMIM - Diseases PPSH (Pseudovaginal perineoscrotal hypospadias)
HGMD SRD5A2
GeneCards SRD5A2
GeneTests SRD5A2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000274 2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) NM_000348.3 NP_000339.2 2
00000275 2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2), transcript variant X1 XM_011533068.1 XP_011531370.1 0
00000276 2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2), transcript variant X2 XM_011533069.1 XP_011531371.1 0
00000277 2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2), transcript variant X3 XM_011533070.1 XP_011531372.1 0
00000278 2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2), transcript variant X4 XM_011533071.1 XP_011531373.1 0
00000279 2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2), transcript variant X5 XM_011533072.1 XP_011531374.1 0


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