CYP21A2
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CYP21A2 (HGNC:2600) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
cytochrome P450 family 21 subfamily A member 2
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
CYP21, CYP21B
Alias symbols
P450c21B, CA21H, CPS1, CAH1
%HI
65.79(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.91(Read more about gnomAD LOEUF score)
Cytoband
6p21.33
Genomic Coordinates
GRCh37/hg19: chr6:32006192-32009421 NCBI Ensembl UCSC
GRCh38/hg38: chr6:32038415-32041644 NCBI Ensembl UCSC
MANE Select Transcript
NM_000500.9 ENST00000644719.2 (Read more about MANE Select)
Function
A cytochrome P450 monooxygenase that plays a major role in adrenal steroidogenesis. Catalyzes the hydroxylation at C-21 of progesterone and 17alpha-hydroxyprogesterone to respectively form 11- deoxycorticosterone and 11-deoxycortisol, intermediate metabolites in the biosynthetic pathway of mineralocorticoids and glucocorticoids (PubMed:25855791, PubMed:10602386, PubMed:16984992, PubMed:22014889, PubMed:27721825). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, ... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-3093
ClinGen Curation ID:
CCID:006963
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:
07/06/2012

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency Monarch
HI Evidence Comments:
Changes in this gene are associated with autosomal recessive congenital adrenal hyperplasia. White (1988): Identified a 30 kb deletion of CYP21A2 in 13 probands with CAH. This mutation is found in 29% of salt-wasting cases. White(1988) also identified an 8-bp deletion which is present in about 8% of the salt-wasting CAH cases (3260033). Wedell (1992): Identified a GG dinucleotide to a C in exon 10, resulting in a frameshift at arginine-484 and a predicted protein with 57 additional amino acids in the C-terminal end in a patient with severe steroid 21-hydroxylase deficiency (PMID: 1496017).

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000006.11) (NC_000006.12)