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

    Gene ID: 8974, updated on 28-Oct-2024

    Summary

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    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; AllianceGenome:HGNC:8547
    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; lncRNA-PE
    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
    mouse all
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    Genomic context

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    See P4HA2 in Genome Data Viewer
    Location:
    5q31.1
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (132190147..132227853, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (132710021..132747731, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (131525840..131563546, complement)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379174 Neighboring gene enhancer-blocking elements downstream of IL3 Neighboring gene origin of replication downstream of CSF2 Neighboring gene ReSE screen-validated silencer GRCh37_chr5:131423316-131423538 Neighboring gene interleukin 3 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:131429841-131431040 Neighboring gene Sharpr-MPRA regulatory region 12197 Neighboring gene colony stimulating factor 2 Neighboring gene Sharpr-MPRA regulatory region 14284 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23061 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23062 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:131517361-131517888 Neighboring gene NANOG hESC enhancer GRCh37_chr5:131520231-131520732 Neighboring gene Sharpr-MPRA regulatory region 7421 Neighboring gene P4HA2 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:131543137-131543638 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:131543639-131544138 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16312 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16313 Neighboring gene microRNA 6830 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:131586685-131587186 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:131587187-131587686 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:131593943-131594732 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23063 Neighboring gene VISTA enhancer hs1449 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:131603965-131604508 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23064 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23065 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:131605973-131606861 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:131607809-131608310 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:131608311-131608810 Neighboring gene Sharpr-MPRA regulatory region 4855 Neighboring gene uncharacterized LOC124901063 Neighboring gene PDZ and LIM domain 4

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. [P4HA2 promotes occurrence and progression of liver cancer by regulating the PI3K/Akt/mTOR signaling pathway]. Shang L, et al. Nan Fang Yi Ke Da Xue Xue Bao, 2022 May 20. PMID 35673909, Free PMC Article
    2. Prolyl-4-hydroxylase α subunit 2 promotes breast cancer progression and metastasis by regulating collagen deposition. Xiong G, et al. BMC Cancer, 2014 Jan 2. PMID 24383403, Free PMC Article
    3. Profiling and comparative analysis of glycoproteins in Hs578BST and Hs578T and investigation of prolyl 4-hydroxylase alpha polypeptide II expression and influence in breast cancer cells. Pan PW, et al. Biochemistry (Mosc), 2012 May. PMID 22813596
    4. Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia. Guo H, et al. Genet Med, 2015 Apr. PMID 25741866
    5. Assembly of the elongated collagen prolyl 4-hydroxylase α(2)β(2) heterotetramer around a central α(2) dimer. Koski MK, et al. Biochem J, 2017 Feb 20. PMID 28093469

    See all (83) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. P4HA2 involved in SLUG-associated EMT predicts poor prognosis of patients with KRAS-positive colorectal cancer.
      Title: P4HA2 involved in SLUG-associated EMT predicts poor prognosis of patients with KRAS-positive colorectal cancer.
    2. P4HA2 promotes tumor progression and is transcriptionally regulated by SP1 in colorectal cancer.
      Title: P4HA2 promotes tumor progression and is transcriptionally regulated by SP1 in colorectal cancer.
    3. Targeting HIF-activated collagen prolyl 4-hydroxylase expression disrupts collagen deposition and blocks primary and metastatic uveal melanoma growth.
      Title: Targeting HIF-activated collagen prolyl 4-hydroxylase expression disrupts collagen deposition and blocks primary and metastatic uveal melanoma growth.
    4. P4HA2 promotes proliferation, invasion, and metastasis through regulation of the PI3K/AKT signaling pathway in oral squamous cell carcinoma.
      Title: P4HA2 promotes proliferation, invasion, and metastasis through regulation of the PI3K/AKT signaling pathway in oral squamous cell carcinoma.
    5. P4HA2 contributes to head and neck squamous cell carcinoma progression and EMT through PI3K/AKT signaling pathway.
      Title: P4HA2 contributes to head and neck squamous cell carcinoma progression and EMT through PI3K/AKT signaling pathway.
    6. P4HA2-mediated HIF-1alpha stabilization promotes erdafitinib-resistance in FGFR3-alteration bladder cancer.
      Title: P4HA2-mediated HIF-1α stabilization promotes erdafitinib-resistance in FGFR3-alteration bladder cancer.
    7. CEBPB upregulates P4HA2 to promote the malignant biological behavior in IDH1 wildtype glioma.
      Title: CEBPB upregulates P4HA2 to promote the malignant biological behavior in IDH1 wildtype glioma.
    8. High expression of prolyl 4-hydroxylase subunit alpha-2 in lung adenocarcinoma indicates poor prognosis.
      Title: High expression of prolyl 4-hydroxylase subunit alpha-2 in lung adenocarcinoma indicates poor prognosis.
    9. [P4HA2 promotes occurrence and progression of liver cancer by regulating the PI3K/Akt/mTOR signaling pathway].
      Title: [P4HA2 promotes occurrence and progression of liver cancer by regulating the PI3K/Akt/mTOR signaling pathway].
    10. Prognostic and diagnostic roles of prolyl 4-hydroxylase subunit alpha members in breast cancer.
      Title: Prognostic and diagnostic roles of prolyl 4-hydroxylase subunit α members in breast cancer.
    Submit: New GeneRIF Correction See all GeneRIFs (30)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

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

    EBI GWAS Catalog

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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    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 PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables L-ascorbic acid binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables electron transfer activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    enables iron ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables procollagen-proline 4-dioxygenase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables procollagen-proline 4-dioxygenase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    located_in intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  

    General protein information

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    Preferred Names
    prolyl 4-hydroxylase subunit alpha-2
    Names
    4-PH alpha 2
    C-P4Halpha(II)
    collagen prolyl 4-hydroxylase alpha(II)
    lncRNA promotes epithelial-mesenchymal transition
    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

    NCBI Reference Sequences (RefSeq)

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    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
      5011..42717
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001017974.2 → NP_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/TrEMBL
      Q5HYD8
      Related
      ENSP00000353772.3, ENST00000360568.8
      Conserved Domains (2) summary
      smart00702
      Location:346 → 517
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:26 → 155
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region

    2. NM_001142598.2 → NP_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/TrEMBL
      Q5HYD8
      Conserved Domains (2) summary
      smart00702
      Location:346 → 517
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:26 → 155
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region

    3. NM_001142599.2 → NP_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
      D3DQ85, D3DQ86, O15460, Q8WWN0
      UniProtKB/TrEMBL
      Q5HYD8
      Related
      ENSP00000166534.4, ENST00000166534.8
      Conserved Domains (2) summary
      smart00702
      Location:346 → 519
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:27 → 113
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region

    4. NM_001365677.2 → NP_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
      Consensus CDS
      CCDS4151.1
      UniProtKB/Swiss-Prot
      D3DQ85, D3DQ86, O15460, Q8WWN0
      UniProtKB/TrEMBL
      Q5HYD8
      Related
      ENSP00000368398.2, ENST00000379104.7
      Conserved Domains (2) summary
      smart00702
      Location:346 → 519
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:27 → 113
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region

    5. NM_001365678.2 → NP_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
      Consensus CDS
      CCDS34230.1
      UniProtKB/TrEMBL
      Q5HYD8
      Related
      ENSP00000368379.1, ENST00000379086.5
      Conserved Domains (2) summary
      smart00702
      Location:346 → 517
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:26 → 155
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region

    6. NM_001365679.2 → NP_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
      Consensus CDS
      CCDS34230.1
      UniProtKB/TrEMBL
      Q5HYD8
      Related
      ENSP00000368394.2, ENST00000379100.7
      Conserved Domains (2) summary
      smart00702
      Location:346 → 517
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:26 → 155
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region

    7. NM_001365680.2 → NP_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
      Consensus CDS
      CCDS34230.1
      UniProtKB/TrEMBL
      Q5HYD8
      Conserved Domains (2) summary
      smart00702
      Location:346 → 517
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:26 → 155
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region

    8. NM_001365681.2 → NP_001352610.1  prolyl 4-hydroxylase subunit alpha-2 isoform 3 precursor

      Status: REVIEWED

      Source sequence(s)
      AC034220, AC063976
      UniProtKB/TrEMBL
      Q5HYD8
      Conserved Domains (2) summary
      smart00702
      Location:295 → 458
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:26 → 155
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region

    9. NM_004199.3 → NP_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, AC063976, BC025960, U90441
      Consensus CDS
      CCDS4151.1
      UniProtKB/Swiss-Prot
      D3DQ85, D3DQ86, O15460, Q8WWN0
      UniProtKB/TrEMBL
      Q5HYD8
      Related
      ENSP00000384999.1, ENST00000401867.5
      Conserved Domains (2) summary
      smart00702
      Location:346 → 519
      P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
      pfam08336
      Location:27 → 113
      P4Ha_N; Prolyl 4-Hydroxylase alpha-subunit, N-terminal region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      132190147..132227853 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      132710021..132747731 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O15460.1 GenPept UniProtKB/Swiss-Prot:O15460

    Gene LinkOut

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