1. Gene
  2. P4HA2 - prolyl 4-hydroxylase subunit alpha 2 Gene

P4HA2 - prolyl 4-hydroxylase subunit alpha 2 Gene

Homo sapiens

Also known as MYP25; lncRNA-PE

Gene ID: 8974 | Gene type: protein coding

About P4HA2

Cytogenetic location: 5q31.1 Genomic coordinates (GRCh38): 5:132,190,147-132,227,853 (from NCBI)

This gene has 21 transcripts (splice variants), 215 orthologues, 3 paralogues and is associated with 3 phenotypes. Ubiquitous expression in lung (RPKM 10.5), kidney (RPKM 10.5) and 24 other tissues.

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]

P4HA2 Products(9)

mRNA Protein Name
NM_001017974.2 NP_001017974.1 prolyl 4-hydroxylase subunit alpha-2 isoform 2 precursor
NM_001142598.2 NP_001136070.1 prolyl 4-hydroxylase subunit alpha-2 isoform 2 precursor
NM_001142599.2 NP_001136071.1 prolyl 4-hydroxylase subunit alpha-2 isoform 1 precursor
NM_001365677.2 NP_001352606.1 prolyl 4-hydroxylase subunit alpha-2 isoform 1 precursor
NM_001365678.2 NP_001352607.1 prolyl 4-hydroxylase subunit alpha-2 isoform 2 precursor
NM_001365679.2 NP_001352608.1 prolyl 4-hydroxylase subunit alpha-2 isoform 2 precursor
NM_001365680.2 NP_001352609.1 prolyl 4-hydroxylase subunit alpha-2 isoform 2 precursor
NM_001365681.2 NP_001352610.1 prolyl 4-hydroxylase subunit alpha-2 isoform 3 precursor
NM_004199.3 NP_004190.1 prolyl 4-hydroxylase subunit alpha-2 isoform 1 precursor
Gene Ontology
  • Molecular Function
Molecular Function GO Annotation Evidence Reference Source
enables procollagen-proline 4-dioxygenase activity IDA
IDA: Inferred from direct assay
9211872 GOA
enables protein binding IPI
IPI: Inferred from physical interaction
25416956 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

P4HA2 Protein Structure

P4Ha_N

P4Ha_N: Prolyl 4-Hydroxylase alpha-subunit, N-terminal region (25 - 157)

2OG-FeII_Oxy

2OG-FeII_Oxy: 2OG-Fe(II) oxygenase superfamily (413 - 519)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 535 a.a.
Protein Preferred Names Protein Names

prolyl 4-hydroxylase subunit alpha-2

4-PH alpha 2

Related Diseases

Diseases Alias
Myopia 25, Autosomal Dominant

MYP25

Temporal Arteritis

Polymyalgia Rheumatica

Giant Cell Arteritis

Cranial Arteritis

Horton Disease

Gca

Horton'S Disease

Rhizomelic Pseudopolyarthritis

Arteritis Cranialis

Arteritis Temporalis

Horton'S Arteritis

Horton'S Giant Cell Arteritis

Horton'S Temporal Arteritis

Horton'S Syndrome

Gca - [Giant Cell Arteritis]

Senile Arthritis

Polymyalgia Arteritica

Pmr - [Polymyalgia Rheumatica]

Forestier-Certonciny Syndrome

Rheumatic Polymyalgia

Polymyalgia

Breast Scirrhous Carcinoma

Infiltrating Carcinoma Of Breast With Fibrotic Stroma

Scirrhous Carcinoma Of Breast

Refractive Error

Refractive Errors

Myopia

Near-Sightedness

Short-Sightedness

Nearsightedness

Nearsighted

Near Vision

Close Sighted

Myopic

Short-Sighted

Near Sighted

Osteogenesis Imperfecta, Type Viii

Osteogenesis Imperfecta Type 8

OI8

Osteogenesis Imperfecta Type Viii

Oi Type Viii

Oi, Type Viii

Osteogenesis Imperfecta 8

Oi-Viii

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus P4HA2 VGNC VGNC:32536
Felis catus P4HA2 VGNC VGNC:68677
Macaca mulatta P4HA2 VGNC VGNC:75742
Canis familiaris P4HA2 VGNC VGNC:44223
Mus musculus P4HA2 MGD MGI:894286
Rattus norvegicus P4HA2 RGD RGD:1309673