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

Gene ID: 8974, updated on 11-Apr-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
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Genomic context

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Location:
5q31.1
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (132190147..132227853, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (132710021..132747731, complement)
105.20220307 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
  • 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. High expression of prolyl 4-hydroxylase subunit alpha-2 in lung adenocarcinoma indicates poor prognosis. Lu XH, et al. Clinics (Sao Paulo), 2022. PMID 36403427, Free PMC Article
  2. [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
  3. Prolyl-4-hydroxylase Α subunit 2 (P4HA2) expression is a predictor of poor outcome in breast ductal carcinoma in situ (DCIS). Toss MS, et al. Br J Cancer, 2018 Dec. PMID 30410060, Free PMC Article
  4. Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation. Napolitano F, et al. Clin Genet, 2018 May. PMID 29364500
  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 (73) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. 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.
  3. 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.
  4. [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].
  5. 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.
  6. P4HA2-induced prolyl hydroxylation suppresses YAP1-mediated prostate cancer cell migration, invasion, and metastasis.
    Title: P4HA2-induced prolyl hydroxylation suppresses YAP1-mediated prostate cancer cell migration, invasion, and metastasis.
  7. LncRNA PCGEM1 enhances metastasis and gastric cancer invasion through targeting of miR-129-5p to regulate P4HA2 expression.
    Title: LncRNA PCGEM1 enhances metastasis and gastric cancer invasion through targeting of miR-129-5p to regulate P4HA2 expression.
  8. The data show that a low P4HA2 and high PRTN3 expression correlates with poor survival in patients with pancreatic cancer, indicating the involvement of collagen deposition in the restraint of the tumor.
    Title: Low P4HA2 and high PRTN3 expression predicts poor survival in patients with pancreatic cancer.
  9. lncRNA LMCD1-AS1 functions as a molecular sponge of let-7g to post-transcriptionally induce the target gene of let-7g, namely, P4HA2
    Title: Aspirin targets P4HA2 through inhibiting NF-κB and LMCD1-AS1/let-7g to inhibit tumour growth and collagen deposition in hepatocellular carcinoma.
  10. This is the first confirmatory study which associates a novel dominant missense variant in P4HA2 with myopia in Caucasian patients. Further studies in larger cohorts are advisable to fully clarify genotype-phenotype correlations
    Title: Autosomal-dominant myopia associated to a novel P4HA2 missense variant and defective collagen hydroxylation.
Submit: New GeneRIF Correction See all GeneRIFs (25)

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
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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 
Process Evidence Code Pubs
involved_in peptidyl-proline hydroxylation to 4-hydroxy-L-proline IBA
Inferred from Biological aspect of Ancestor
more info
  
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_2023_10

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

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