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P3H2 prolyl 3-hydroxylase 2 [ Homo sapiens (human) ]

Gene ID: 55214, updated on 5-Apr-2020

Summary

Official Symbol
P3H2provided by HGNC
Official Full Name
prolyl 3-hydroxylase 2provided by HGNC
Primary source
HGNC:HGNC:19317
See related
Ensembl:ENSG00000090530 MIM:610341
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
MCVD; MLAT4; LEPREL1
Summary
This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]
Expression
Broad expression in prostate (RPKM 22.0), kidney (RPKM 21.3) and 20 other tissues See more
Orthologs

Genomic context

See P3H2 in Genome Data Viewer
Location:
3q28
Exon count:
17
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (189956728..190122437, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (189674517..189840226, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene tumor protein p63 Neighboring gene DeltaNp63 promoter of tumor protein p63 Neighboring gene microRNA 944 Neighboring gene methylthioadenosine phosphorylase pseudogene 2 Neighboring gene P3H2 antisense RNA 1 Neighboring gene RNA, U6 small nuclear 1109, pseudogene Neighboring gene NMNAT1 pseudogene 3

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10718

Gene Ontology Provided by GOA

Function Evidence Code Pubs
L-ascorbic acid binding IEA
Inferred from Electronic Annotation
more info
 
iron ion binding IEA
Inferred from Electronic Annotation
more info
 
procollagen-proline 3-dioxygenase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
procollagen-proline 3-dioxygenase activity IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
collagen metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
collagen metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of cell proliferation IDA
Inferred from Direct Assay
more info
PubMed 
oxidation-reduction process IEA
Inferred from Electronic Annotation
more info
 
peptidyl-proline hydroxylation IDA
Inferred from Direct Assay
more info
PubMed 
Component Evidence Code Pubs
Golgi apparatus IDA
Inferred from Direct Assay
more info
PubMed 
basement membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
endoplasmic reticulum IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
endoplasmic reticulum IDA
Inferred from Direct Assay
more info
PubMed 
endoplasmic reticulum lumen TAS
Traceable Author Statement
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
sarcoplasmic reticulum IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
prolyl 3-hydroxylase 2
Names
leprecan-like 1
myxoid liposarcoma-associated protein 4
procollagen-proline 3-dioxygenase 2
prolyl 3-hydroxylase 3
NP_001127890.1
NP_060662.2
XP_011511257.1

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_031929.1 RefSeqGene

    Range
    5001..170710
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001134418.1NP_001127890.1  prolyl 3-hydroxylase 2 isoform b

    See identical proteins and their annotated locations for NP_001127890.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (b) has a shorter N-terminus, compared to isoform a.
    Source sequence(s)
    AC016966, BC005029, BU621129, BU737886, DA720646
    Consensus CDS
    CCDS46981.1
    UniProtKB/Swiss-Prot
    Q8IVL5
    Related
    ENSP00000408947.2, ENST00000427335.6
    Conserved Domains (2) summary
    smart00702
    Location:291489
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    cl21750
    Location:130163
    Fis1; Mitochondrial Fission Protein Fis1, cytosolic domain
  2. NM_018192.4NP_060662.2  prolyl 3-hydroxylase 2 isoform a precursor

    See identical proteins and their annotated locations for NP_060662.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
    Source sequence(s)
    AJ430351, AK125134, BC005029, BU621129, BU737886
    Consensus CDS
    CCDS3294.1
    UniProtKB/Swiss-Prot
    Q8IVL5
    Related
    ENSP00000316881.5, ENST00000319332.10
    Conserved Domains (2) summary
    smart00702
    Location:472670
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    cl21750
    Location:311344
    Fis1; Mitochondrial Fission Protein Fis1, cytosolic domain

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_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    189956728..190122437 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011512955.1XP_011511257.1  prolyl 3-hydroxylase 2 isoform X1

    See identical proteins and their annotated locations for XP_011511257.1

    UniProtKB/Swiss-Prot
    Q8IVL5
    Conserved Domains (2) summary
    smart00702
    Location:291489
    P4Hc; Prolyl 4-hydroxylase alpha subunit homologues
    cl21750
    Location:130163
    Fis1; Mitochondrial Fission Protein Fis1, cytosolic domain
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