SRD5A2
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
SRD5A2 (HGNC:11285) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
steroid 5 alpha-reductase 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
No aliases found
%HI
0(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.72(Read more about gnomAD LOEUF score)
Cytoband
2p23.1
Genomic Coordinates
GRCh37/hg19: chr2:31747550-31806007 NCBI Ensembl UCSC
GRCh38/hg38: chr2:31522480-31663009 NCBI Ensembl UCSC
MANE Select Transcript
NM_000348.4 ENST00000622030.2 (Read more about MANE Select)
Function
Converts testosterone (T) into 5-alpha-dihydrotestosterone (DHT) and progesterone or corticosterone into their corresponding 5- alpha-3-oxosteroids. It plays a central role in sexual differentiation and androgen physiology. {ECO:0000269|PubMed:10898110}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-32933
ClinGen Curation ID:
CCID:007938
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2012

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency Monarch
HI Evidence Comments:
This gene is associated with autosomal recessive pseudovaginal perineoscrotal hypospadias (5-alpha reductase deficiency).

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)