P3H3 (prolyl 3-hydroxylase 3)

2016-10-01  

Identity

HGNC
LOCATION
12p13.31
LOCUSID
ALIAS
GRCB,HSU47926,LEPREL2
FUSION GENES

Other Information

Locus ID:

NCBI: 10536
MIM: 610342
HGNC: 19318
Ensembl: ENSG00000110811

Variants:

dbSNP: 10536
ClinVar: 10536
TCGA: ENSG00000110811
COSMIC: P3H3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000110811ENST00000290510Q8IVL6

Expression (GTEx)

0
50
100
150

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

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA447321Depressive Disorder, MajorDiseaseClinicalAnnotationassociatedPD30324302
PA451333sertralineChemicalClinicalAnnotationassociatedPD30324302

References

Pubmed IDYearTitleCitations
192047262009Transcriptomic and genetic studies identify IL-33 as a candidate gene for Alzheimer's disease.63
197732792009Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.6

Citation

Dessen P

P3H3 (prolyl 3-hydroxylase 3)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56433/p3h3