P3H2 (prolyl 3-hydroxylase 2)

2003-12-01  

Identity

HGNC
LOCATION
3q28
LOCUSID
ALIAS
LEPREL1,MCVD,MLAT4
FUSION GENES

Other Information

Locus ID:

NCBI: 55214
MIM: 610341
HGNC: 19317
Ensembl: ENSG00000090530

Variants:

dbSNP: 55214
ClinVar: 55214
TCGA: ENSG00000090530
COSMIC: P3H2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000090530ENST00000319332Q8IVL5
ENSG00000090530ENST00000426003C9JSL4
ENSG00000090530ENST00000427335Q8IVL5
ENSG00000090530ENST00000444866C9J313

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

Pathways

PathwaySourceExternal ID
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
185198262008Molecular genetics of successful smoking cessation: convergent genome-wide association study results.130
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
218850302011High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.36
184871972008Characterization of recombinant human prolyl 3-hydroxylase isoenzyme 2, an enzyme modifying the basement membrane collagen IV.31
194363082009The prolyl 3-hydroxylases P3H2 and P3H3 are novel targets for epigenetic silencing in breast cancer.20
255251682014Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.20
241722572014Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract.18
217576872011A role for prolyl 3-hydroxylase 2 in post-translational modification of fibril-forming collagens.14
254695332015Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype.6
299561212018Identification of an enhancer region within the TP63/LEPREL1 locus containing genetic variants associated with bladder cancer risk.1

Citation

Dessen P

P3H2 (prolyl 3-hydroxylase 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/41141/p3h2