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    P4HA2 prolyl 4-hydroxylase subunit alpha 2 [ Homo sapiens (human) ]

    Gene ID: 8974, updated on 11-Jul-2019

    Summary

    Official Symbol
    P4HA2provided by HGNC
    Official Full Name
    prolyl 4-hydroxylase subunit alpha 2provided by HGNC
    Primary source
    HGNC:HGNC:8547
    See related
    Ensembl:ENSG00000072682 MIM:600608
    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
    MYP25
    Summary
    This gene encodes a component of prolyl 4-hydroxylase, a key enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
    Expression
    Ubiquitous expression in lung (RPKM 10.5), kidney (RPKM 10.5) and 24 other tissues See more
    Orthologs

    Genomic context

    See P4HA2 in Genome Data Viewer
    Location:
    5q31.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    109.20190607 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (132190147..132227863, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (131528299..131563556, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene origin of replication downstream of CSF2 Neighboring gene Sharpr-MPRA regulatory region 14284 Neighboring gene P4HA2 antisense RNA 1 Neighboring gene microRNA 6830 Neighboring gene VISTA enhancer hs1449 Neighboring gene PDZ and LIM domain 4 Neighboring gene CAGE-defined mid-level expression enhancer upstream of SLC22A4

    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

    Associated conditions

    Description Tests
    Myopia 25, autosomal dominant
    MedGen: C4310655 OMIM: 617238 GeneReviews: Not available
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
    NHGRI GWA Catalog

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 is identified to have a physical interaction with prolyl 4-hydroxylase, alpha polypeptide II (P4HA2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    L-ascorbic acid binding IEA
    Inferred from Electronic Annotation
    more info
     
    electron transfer activity TAS
    Traceable Author Statement
    more info
    PubMed 
    iron ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen IEA
    Inferred from Electronic Annotation
    more info
     
    contributes_to procollagen-proline 4-dioxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    electron transport chain IEA
    Inferred from Electronic Annotation
    more info
     
    peptidyl-proline hydroxylation to 4-hydroxy-L-proline IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    cytosol IDA
    Inferred from Direct Assay
    more info
     
    endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
     
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
     
    intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     

    General protein information

    Preferred Names
    prolyl 4-hydroxylase subunit alpha-2
    Names
    4-PH alpha 2
    C-P4Halpha(II)
    collagen prolyl 4-hydroxylase alpha(II)
    procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), alpha polypeptide II
    procollagen-proline,2-oxoglutarate-4-dioxygenase subunit alpha-2
    prolyl 4-hydroxylase, alpha polypeptide II
    NP_001017974.1
    NP_001136070.1
    NP_001136071.1
    NP_001352606.1
    NP_001352607.1
    NP_001352608.1
    NP_001352609.1
    NP_001352610.1
    NP_004190.1
    XP_005272174.1
    XP_005272175.1
    XP_005272176.1
    XP_005272177.1
    XP_006714791.1
    XP_024302023.1
    XP_024302024.1

    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_052887.1 RefSeqGene

      Range
      5622..40254
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001017974.2NP_001017974.1  prolyl 4-hydroxylase subunit alpha-2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001017974.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) differs in the 5' UTR, compared to variant 1, and contains an alternate in-frame exon. Variants 2-4 and 7-9 all encode isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AC063976, AU117989, BC035813
      Consensus CDS
      CCDS34230.1
      UniProtKB/Swiss-Prot
      O15460
      Related
      ENSP00000353772.3, ENST00000360568.7
      Conserved Domains (2) summary
      smart00702
      Location:346517
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:26155
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
    2. NM_001142598.2NP_001136070.1  prolyl 4-hydroxylase subunit alpha-2 isoform 2 precursor

      See identical proteins and their annotated locations for NP_001136070.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) differs in the 5' UTR, compared to variant 1, and contains an alternate in-frame exon. Variants 2-4 and 7-9 all encode isoform 2, which is shorter than isoform 1.
      Source sequence(s)
      AC063976, BC017062, BI758477, DA544450
      Consensus CDS
      CCDS34230.1
      UniProtKB/Swiss-Prot
      O15460
      UniProtKB/TrEMBL
      Q05DA4
      Conserved Domains (2) summary
      smart00702
      Location:346517
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:26155
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
    3. NM_001142599.2NP_001136071.1  prolyl 4-hydroxylase subunit alpha-2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_001136071.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) differs in the 5' UTR compared to variant 1. Variants 1, 5, and 6 all encode the same isoform (1).
      Source sequence(s)
      AC063976, BC017062, BI758477, DA544450, U90441
      Consensus CDS
      CCDS4151.1
      UniProtKB/Swiss-Prot
      O15460
      UniProtKB/TrEMBL
      Q05DA4
      Related
      ENSP00000166534.4, ENST00000166534.8
      Conserved Domains (2) summary
      smart00702
      Location:346519
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:26155
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
    4. NM_001365677.2NP_001352606.1  prolyl 4-hydroxylase subunit alpha-2 isoform 1 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6), as well as variants 1 and 5, encodes isoform 1.
      Source sequence(s)
      AC034220, AC063976
      Conserved Domains (2) summary
      smart00702
      Location:346519
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:26155
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
    5. NM_001365678.2NP_001352607.1  prolyl 4-hydroxylase subunit alpha-2 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7), as well as variants 2, 3, 4, 8, and 9, all encode the same isoform (2).
      Source sequence(s)
      AC034220, AC063976
      Related
      ENSP00000368379.1, ENST00000379086.5
      Conserved Domains (2) summary
      smart00702
      Location:346517
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:26155
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
    6. NM_001365679.2NP_001352608.1  prolyl 4-hydroxylase subunit alpha-2 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8), as well as variants 2, 3, 4, 7, and 9, all encode the same isoform (2).
      Source sequence(s)
      AC034220, AC063976
      Conserved Domains (2) summary
      smart00702
      Location:346517
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:26155
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
    7. NM_001365680.2NP_001352609.1  prolyl 4-hydroxylase subunit alpha-2 isoform 2 precursor

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9), as well as variants 2, 3, 4, 7, and 8, all encode the same isoform (2).
      Source sequence(s)
      AC034220, AC063976
      Conserved Domains (2) summary
      smart00702
      Location:346517
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:26155
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
    8. NM_001365681.2NP_001352610.1  prolyl 4-hydroxylase subunit alpha-2 isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AC034220, AC063976
      Conserved Domains (2) summary
      smart00702
      Location:295458
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:26155
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
    9. NM_004199.2NP_004190.1  prolyl 4-hydroxylase subunit alpha-2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_004190.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1), also known as IIb, encodes the longest isoform (1). Variants 1, 5, and 6 all encode the same isoform (1).
      Source sequence(s)
      AC034220, BC025960, U90441
      Consensus CDS
      CCDS4151.1
      UniProtKB/Swiss-Prot
      O15460
      Related
      ENSP00000368398.2, ENST00000379104.6
      Conserved Domains (2) summary
      smart00702
      Location:346519
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:26155
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region

    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.p13 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

      Range
      132190147..132227863 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446255.1XP_024302023.1  prolyl 4-hydroxylase subunit alpha-2 isoform X3

      Conserved Domains (2) summary
      smart00702
      Location:295460
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:26155
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
    2. XM_024446256.1XP_024302024.1  prolyl 4-hydroxylase subunit alpha-2 isoform X4

      Conserved Domains (2) summary
      smart00702
      Location:295458
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:26155
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
    3. XM_005272117.4XP_005272174.1  prolyl 4-hydroxylase subunit alpha-2 isoform X1

      See identical proteins and their annotated locations for XP_005272174.1

      UniProtKB/Swiss-Prot
      O15460
      Conserved Domains (2) summary
      smart00702
      Location:346519
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:26155
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
    4. XM_006714728.3XP_006714791.1  prolyl 4-hydroxylase subunit alpha-2 isoform X1

      See identical proteins and their annotated locations for XP_006714791.1

      UniProtKB/Swiss-Prot
      O15460
      Conserved Domains (2) summary
      smart00702
      Location:346519
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:26155
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
    5. XM_005272120.4XP_005272177.1  prolyl 4-hydroxylase subunit alpha-2 isoform X1

      See identical proteins and their annotated locations for XP_005272177.1

      UniProtKB/Swiss-Prot
      O15460
      Conserved Domains (2) summary
      smart00702
      Location:346519
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:26155
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
    6. XM_005272119.4XP_005272176.1  prolyl 4-hydroxylase subunit alpha-2 isoform X1

      See identical proteins and their annotated locations for XP_005272176.1

      UniProtKB/Swiss-Prot
      O15460
      Related
      ENSP00000384999.1, ENST00000401867.5
      Conserved Domains (2) summary
      smart00702
      Location:346519
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:26155
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
    7. XM_005272118.4XP_005272175.1  prolyl 4-hydroxylase subunit alpha-2 isoform X1

      See identical proteins and their annotated locations for XP_005272175.1

      UniProtKB/Swiss-Prot
      O15460
      Conserved Domains (2) summary
      smart00702
      Location:346519
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:26155
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region
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