P4HA2 (prolyl 4-hydroxylase subunit alpha 2)

2012-03-01  

Identity

HGNC
LOCATION
5q31.1
LOCUSID
ALIAS
MYP25
FUSION GENES

Other Information

Locus ID:

NCBI: 8974
MIM: 600608
HGNC: 8547
Ensembl: ENSG00000072682

Variants:

dbSNP: 8974
ClinVar: 8974
TCGA: ENSG00000072682
COSMIC: P4HA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000072682ENST00000166534O15460
ENSG00000072682ENST00000360568O15460
ENSG00000072682ENST00000379086O15460
ENSG00000072682ENST00000379100O15460
ENSG00000072682ENST00000379104O15460
ENSG00000072682ENST00000395164A8MXE0
ENSG00000072682ENST00000401867O15460
ENSG00000072682ENST00000416053C9JN43
ENSG00000072682ENST00000417528E7ENX0
ENSG00000072682ENST00000418055C9JIG4
ENSG00000072682ENST00000428369C9JCP0
ENSG00000072682ENST00000428841C9JFJ1
ENSG00000072682ENST00000431054E7EPI9
ENSG00000072682ENST00000439698E7ERI1
ENSG00000072682ENST00000453286C9JX45

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Arginine and proline metabolismKEGGko00330
Arginine and proline metabolismKEGGhsa00330
Metabolic pathwaysKEGGhsa01100
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
234233822013Hypoxia-inducible factor 1 (HIF-1) promotes extracellular matrix remodeling under hypoxic conditions by inducing P4HA1, P4HA2, and PLOD2 expression in fibroblasts.136
243834032014Prolyl-4-hydroxylase α subunit 2 promotes breast cancer progression and metastasis by regulating collagen deposition.59
169170632006p53-mediated inhibition of angiogenesis through up-regulation of a collagen prolyl hydroxylase.50
168851642006The length of peptide substrates has a marked effect on hydroxylation by the hypoxia-inducible factor prolyl 4-hydroxylases.38
218591522011Identification of PRDX4 and P4HA2 as metastasis-associated proteins in oral cavity squamous cell carcinoma by comparative tissue proteomics of microdissected specimens using iTRAQ technology.38
168773512006Regulation of type II collagen synthesis during osteoarthritis by prolyl-4-hydroxylases: possible influence of low oxygen levels.29
206286242010Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".29
191314522009Genetic association study for RSV bronchiolitis in infancy at the 5q31 cytokine cluster.22
172138422007Refined genomic localization and ethnic differences observed for the IBD5 association with Crohn's disease.19
257418662015Mutations of P4HA2 encoding prolyl 4-hydroxylase 2 are associated with nonsyndromic high myopia.17

Citation

Dessen P

P4HA2 (prolyl 4-hydroxylase subunit alpha 2)

Atlas Genet Cytogenet Oncol Haematol. 2012-03-01

Online version: http://atlasgeneticsoncology.org/gene/52639/p4ha2