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

    Gene ID: 1589, updated on 26-Jul-2015
    Official Symbol
    CYP21A2provided by HGNC
    Official Full Name
    cytochrome P450, family 21, subfamily A, polypeptide 2provided by HGNC
    Primary source
    HGNC:HGNC:2600
    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]
    Orthologs
    See CYP21A2 in Epigenomics, MapViewer
    Location:
    6p21.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 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 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
    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

    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
    21-OHase
    cytochrome P450 XXI
    cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2
    cytochrome P450-C21B
    steroid 21-monooxygenase
    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 RefSeqGene

      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 identical proteins and their annotated locations for 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 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, OTTHUMP00000029083, ENST00000435122, OTTHUMT00000076093
      Conserved Domains (1) summary
      pfam00067
      Location:29449
      p450; Cytochrome P450

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p2 Primary Assembly

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

    mRNA and Protein(s)

    1. XM_011514314.1XP_011512616.1  

      See identical proteins and their annotated locations for XP_011512616.1

      Conserved Domains (1) summary
      pfam00067
      Location:1344
      p450; Cytochrome P450

    Reference GRCh38.p2 ALT_REF_LOCI_2

    Genomic

    1. NT_113891.3 Reference GRCh38.p2 ALT_REF_LOCI_2

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

    mRNA and Protein(s)

    1. XM_011547193.1XP_011545495.1  

      See identical proteins and their annotated locations for XP_011545495.1

      Conserved Domains (1) summary
      pfam00067
      Location:1344
      p450; Cytochrome P450

    Reference GRCh38.p2 ALT_REF_LOCI_3

    Genomic

    1. NT_167245.2 Reference GRCh38.p2 ALT_REF_LOCI_3

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

    mRNA and Protein(s)

    1. XM_011547605.1XP_011545907.1  

      See identical proteins and their annotated locations for XP_011545907.1

      Conserved Domains (1) summary
      pfam00067
      Location:1344
      p450; Cytochrome P450

    Reference GRCh38.p2 ALT_REF_LOCI_5

    Genomic

    1. NT_167247.2 Reference GRCh38.p2 ALT_REF_LOCI_5

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

    Reference GRCh38.p2 ALT_REF_LOCI_7

    Genomic

    1. NT_167249.2 Reference GRCh38.p2 ALT_REF_LOCI_7

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

    mRNA and Protein(s)

    1. XM_011548387.1XP_011546689.1  

      Conserved Domains (1) summary
      pfam00067
      Location:1344
      p450; Cytochrome P450

    Alternate CHM1_1.1

    Genomic

    1. NC_018917.2 Alternate CHM1_1.1

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