Identity
HGNC
LOCATION
3q28
LOCUSID
ALIAS
LEPREL1,MCVD,MLAT4
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 55214
MIM: 610341
HGNC: 19317
Ensembl: ENSG00000090530
Variants:
dbSNP: 55214
ClinVar: 55214
TCGA: ENSG00000090530
COSMIC: P3H2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000090530 | ENST00000319332 | Q8IVL5 |
| ENSG00000090530 | ENST00000426003 | C9JSL4 |
| ENSG00000090530 | ENST00000427335 | Q8IVL5 |
| ENSG00000090530 | ENST00000444866 | C9J313 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Extracellular matrix organization | REACTOME | R-HSA-1474244 |
| Collagen formation | REACTOME | R-HSA-1474290 |
| Collagen biosynthesis and modifying enzymes | REACTOME | R-HSA-1650814 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33918807 | 2021 | Prolyl 3-Hydroxylase 2 Is a Molecular Player of Angiogenesis. | 1 |
| 33918807 | 2021 | Prolyl 3-Hydroxylase 2 Is a Molecular Player of Angiogenesis. | 1 |
| 30608193 | 2019 | Further phenotypic characterization of LEPREL1-related ectopia lentis. | 1 |
| 30608193 | 2019 | Further phenotypic characterization of LEPREL1-related ectopia lentis. | 1 |
| 29956121 | 2018 | Identification of an enhancer region within the TP63/LEPREL1 locus containing genetic variants associated with bladder cancer risk. | 6 |
| 29956121 | 2018 | Identification of an enhancer region within the TP63/LEPREL1 locus containing genetic variants associated with bladder cancer risk. | 6 |
| 25469533 | 2015 | Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype. | 12 |
| 25469533 | 2015 | Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype. | 12 |
| 24172257 | 2014 | Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract. | 27 |
| 25525168 | 2014 | Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing. | 47 |
| 24172257 | 2014 | Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract. | 27 |
| 25525168 | 2014 | Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing. | 47 |
| 21757687 | 2011 | A role for prolyl 3-hydroxylase 2 in post-translational modification of fibril-forming collagens. | 19 |
| 21885030 | 2011 | High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2. | 45 |
| 21757687 | 2011 | A role for prolyl 3-hydroxylase 2 in post-translational modification of fibril-forming collagens. | 19 |
Citation
Dessen P
P3H2 (prolyl 3-hydroxylase 2)
Atlas Genet Cytogenet Oncol Haematol. 2003-12-01
Online version: http://atlasgeneticsoncology.org/gene/41141/p3h2-(prolyl-3-hydroxylase-2)
