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CYP21A2 cytochrome P450 family 21 subfamily A member 2 [ Homo sapiens (human) ]

Gene ID: 1589, updated on 15-Apr-2019

Summary

Official Symbol
CYP21A2provided by HGNC
Official Full Name
cytochrome P450 family 21 subfamily A member 2provided by HGNC
Primary source
HGNC:HGNC:2600
See related
Ensembl:ENSG00000231852 MIM:613815
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
Also known as
CAH1; CPS1; CA21H; CYP21; CYP21B; P450c21B
Summary
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Expression
Restricted expression toward adrenal (RPKM 498.8) See more
Orthologs

Genomic context

See CYP21A2 in Genome Data Viewer
Location:
6p21.33
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (32038316..32041670)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (32006093..32009447)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene serine/threonine kinase 19B (pseudogene) Neighboring gene complement C4B (Chido blood group) Neighboring gene CYP21A2 5' regulatory region Neighboring gene CYP21A2 recombination region Neighboring gene tenascin XB recombination region Neighboring gene tenascin XB Neighboring gene RNA, 5S ribosomal pseudogene 206 Neighboring gene activating transcription factor 6 beta

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

Description
Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension.
NHGRI GWA Catalog
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog

Pathways from BioSystems

General gene information

Markers

Homology

Clone Names

  • MGC150536, MGC150537

Gene Ontology Provided by GOA

Function Evidence Code Pubs
heme binding IDA
Inferred from Direct Assay
more info
PubMed 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
steroid 21-monooxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
steroid 21-monooxygenase activity TAS
Traceable Author Statement
more info
 
steroid binding IEA
Inferred from Electronic Annotation
more info
 
steroid hydroxylase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
Process Evidence Code Pubs
glucocorticoid biosynthetic process TAS
Traceable Author Statement
more info
 
mineralocorticoid biosynthetic process TAS
Traceable Author Statement
more info
 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
steroid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
steroid metabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
sterol metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
steroid 21-hydroxylase
Names
21-OHase
cytochrome P450 XXI
cytochrome P450, family 21, subfamily A, polypeptide 2
cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2
cytochrome P450-C21B
steroid 21 hydroxylase
steroid 21-monooxygenase
NP_000491.4
NP_001122062.3

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_007941.3 RefSeqGene

    Range
    5111..8340
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000500.9NP_000491.4  steroid 21-hydroxylase isoform a

    See identical proteins and their annotated locations for NP_000491.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (a).
    Source sequence(s)
    AI479704, AL645922, AV708092, BC125181, DA008890, M17252
    Consensus CDS
    CCDS4735.1
    UniProtKB/Swiss-Prot
    P08686
    UniProtKB/TrEMBL
    Q08AG9, Q16874
    Related
    ENSP00000408860.2, ENST00000418967.6
    Conserved Domains (1) summary
    pfam00067
    Location:29479
    p450; Cytochrome P450
  2. NM_001128590.3NP_001122062.3  steroid 21-hydroxylase isoform b

    See identical proteins and their annotated locations for NP_001122062.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon compared to variant 1. The resulting isoform (b) has the same N- and C-termini but is shorter compared to isoform a.
    Source sequence(s)
    AK054616, AL645922, AV708092, BC125181, CD013985, DA008890, M17252
    Consensus CDS
    CCDS47406.1
    UniProtKB/Swiss-Prot
    P08686
    UniProtKB/TrEMBL
    Q08AG9
    Related
    ENSP00000415043.2, ENST00000435122.3
    Conserved Domains (1) summary
    pfam00067
    Location:29449
    p450; Cytochrome P450
  3. NM_001368143.1NP_001355072.1  steroid 21-hydroxylase isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3), as well as variant 4, encodes isoform c.
    Source sequence(s)
    AL645922
  4. NM_001368144.1NP_001355073.1  steroid 21-hydroxylase isoform c

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4), as well as variant 3, encodes isoform c.
    Source sequence(s)
    AL645922

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    32038316..32041670
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 Reference GRCh38.p12 ALT_REF_LOCI_2

    Range
    3476638..3479992
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 Reference GRCh38.p12 ALT_REF_LOCI_3

    Range
    3279724..3283078
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 Reference GRCh38.p12 ALT_REF_LOCI_5

    Range
    3380353..3383703
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p12 ALT_REF_LOCI_6

Genomic

  1. NT_167248.2 Reference GRCh38.p12 ALT_REF_LOCI_6

    Range
    3261577..3264906
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024452557.1XP_024308325.1  

  2. XM_024452555.1XP_024308323.1  

  3. XM_024452556.1XP_024308324.1  

Reference GRCh38.p12 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 Reference GRCh38.p12 ALT_REF_LOCI_7

    Range
    3339506..3342857
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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