Display Settings:

Format

Send to:

Choose Destination

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

Gene ID: 1589, updated on 19-Dec-2014
Official Symbol
CYP21A2provided by HGNC
Official Full Name
cytochrome P450, family 21, subfamily A, polypeptide 2provided by HGNC
Primary source
HGNC:HGNC:2600
Locus tag
DADB-112B14.10-001
See related
Ensembl:ENSG00000231852; HPRD:01942; MIM:613815; Vega:OTTHUMG00000031069
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]
See CYP21A2 in Epigenomics, MapViewer
Location:
6p21.3
Exon count:
11
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 6 NC_000006.12 (32035476..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 component 4B (Chido blood group) Neighboring gene tenascin XB Neighboring gene activating transcription factor 6 beta Neighboring gene FK506 binding protein like

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
21-hydroxylase deficiency Compare labs

NHGRI GWAS Catalog

Description
Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array.
NHGRI GWA Catalog

Markers

Homology

Clone Names

  • MGC150536, MGC150537

Gene Ontology Provided by GOA

Function Evidence Code Pubs
heme binding IEA
Inferred from Electronic Annotation
more info
 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
steroid 21-monooxygenase activity IEA
Inferred from Electronic Annotation
more info
 
steroid binding IEA
Inferred from Electronic Annotation
more info
 
steroid hydroxylase activity TAS
Traceable Author Statement
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
 
small molecule metabolic process TAS
Traceable Author Statement
more info
 
steroid metabolic process TAS
Traceable Author Statement
more info
 
sterol metabolic process TAS
Traceable Author Statement
more info
 
xenobiotic metabolic process TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane TAS
Traceable Author Statement
more info
 
Preferred Names
steroid 21-hydroxylase
Names
steroid 21-hydroxylase
21-OHase
cytochrome P450 XXI
cytochrome P450-C21B
steroid 21-monooxygenase
cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2
NP_000491.3
NP_000491.4
NP_001122062.3

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_007941.2 

    Range
    4961..8363
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_000500.7NP_000491.4  steroid 21-hydroxylase isoform a

    See proteins identical to NP_000491.4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AL645922, AV708092, BC125181, CD013985, DA008890, M17252
    Consensus CDS
    CCDS4735.1
    UniProtKB/Swiss-Prot
    P08686
    UniProtKB/TrEMBL
    Q08AG9
    UniProtKB/TrEMBL
    Q16874
    Related
    ENSP00000408860, OTTHUMP00000174778, ENST00000418967, OTTHUMT00000268768
    Conserved Domains (1) summary
    pfam00067
    Location:29479
    p450; Cytochrome P450
  2. NM_001128590.3NP_001122062.3  steroid 21-hydroxylase isoform b

    See proteins identical to 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, OTTHUMP00000029083, ENST00000435122, OTTHUMT00000076093
    Conserved Domains (1) summary
    pfam00067
    Location:29449
    p450; Cytochrome P450

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

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

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000006.12 

    Range
    32035476..32041670
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006715001.1XP_006715064.1  

    See proteins identical to XP_006715064.1

    Conserved Domains (1) summary
    pfam00067
    Location:18438
    p450; Cytochrome P450
  2. XM_006715002.1XP_006715065.1  

    See proteins identical to XP_006715065.1

    Conserved Domains (1) summary
    cl12078
    Location:26281
    p450; Cytochrome P450

Reference GRCh38 ALT_REF_LOCI_2

Genomic

  1. NT_113891.3 

    Range
    3473836..3479992
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006725472.1XP_006725535.1  

    See proteins identical to XP_006725535.1

    Conserved Domains (1) summary
    pfam00067
    Location:18438
    p450; Cytochrome P450
  2. XM_006725473.1XP_006725536.1  

    See proteins identical to XP_006725536.1

    Conserved Domains (1) summary
    cl12078
    Location:26281
    p450; Cytochrome P450

Reference GRCh38 ALT_REF_LOCI_3

Genomic

  1. NT_167245.2 

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

Reference GRCh38 ALT_REF_LOCI_5

Genomic

  1. NT_167247.2 

    Range
    3377551..3383703
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006725896.1XP_006725959.1  

    See proteins identical to XP_006725959.1

    Conserved Domains (1) summary
    pfam00067
    Location:18438
    p450; Cytochrome P450
  2. XM_006725897.1XP_006725960.1  

    See proteins identical to XP_006725960.1

    Conserved Domains (1) summary
    cl12078
    Location:26281
    p450; Cytochrome P450

Reference GRCh38 ALT_REF_LOCI_7

Genomic

  1. NT_167249.2 

    Range
    3336704..3342857
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006726076.1XP_006726139.1  

    See proteins identical to XP_006726139.1

    Conserved Domains (1) summary
    pfam00067
    Location:18438
    p450; Cytochrome P450
  2. XM_006726077.1XP_006726140.1  

    See proteins identical to XP_006726140.1

    Conserved Domains (1) summary
    cl12078
    Location:26281
    p450; Cytochrome P450

Alternate CHM1_1.1

Genomic

  1. NC_018917.2 

    Range
    32008304..32011658
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

  1. AC_000138.1 

    Range
    31760372..31763726
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)