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

Gene ID: 8974, updated on 1-Jun-2020

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
109.20200522 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (132190147..132227853, 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 Functions

What'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 PubChem

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
    Related
    ENSP00000368394.2, ENST00000379100.6
    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_004199.3NP_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
    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 Updated 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..132227853 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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