P3H2 (prolyl 3-hydroxylase 2)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 55214
Gene name Prolyl 3-hydroxylase 2
Gene symbol P3H2
Synonyms (NCBI Gene)
LEPREL1MCVDMLAT4
Chromosome 3
Chromosome location 3q28
Summary This gene encodes a member of the prolyl 3-hydroxylase subfamily of 2-oxo-glutarate-dependent dioxygenases. These enzymes play a critical role in collagen chain assembly, stability and cross-linking by catalyzing post-translational 3-hydroxylation of prol
SNPs SNP information provided by dbSNP.
9
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (9)
SNP ID Visualize variation Clinical significance Consequence
rs377600857 G>A Pathogenic Coding sequence variant, stop gained
rs724159988 C>A Pathogenic Missense variant, coding sequence variant
rs724160006 G>A Pathogenic Stop gained, coding sequence variant
rs745507744 C>G Likely-pathogenic Missense variant, coding sequence variant
rs767012332 T>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
108
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (108)
miRTarBase ID miRNA Experiments Reference
MIRT687696 hsa-miR-891b HITS-CLIP 23313552
MIRT635555 hsa-miR-6867-5p HITS-CLIP 23313552
MIRT687695 hsa-miR-6818-5p HITS-CLIP 23313552
MIRT687694 hsa-miR-147a HITS-CLIP 23313552
MIRT635544 hsa-miR-574-5p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (25)
GO ID Ontology Definition Evidence Reference
GO:0005506 Function Iron ion binding IEA
GO:0005604 Component Basement membrane IEA
GO:0005604 Component Basement membrane ISS
GO:0005654 Component Nucleoplasm IDA
GO:0005783 Component Endoplasmic reticulum IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610341 19317 ENSG00000090530
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8IVL5
Protein name Prolyl 3-hydroxylase 2 (EC 1.14.11.7) (Leprecan-like protein 1) (Myxoid liposarcoma-associated protein 4)
Protein function Prolyl 3-hydroxylase that catalyzes the post-translational formation of 3-hydroxyproline on collagens (PubMed:18487197). Contributes to proline 3-hydroxylation of collagen COL4A1 and COL1A1 in tendons, the eye sclera and in the eye lens capsule
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF13640 2OG-FeII_Oxy_3 570 → 670 2OG-Fe(II) oxygenase superfamily Domain
Tissue specificity TISSUE SPECIFICITY: Expression localized to the epithelia of bile ducts and to the sacroplasm of heart muscle and skeletal muscle. In the pancreas, localized to a subpopulation of Langerhans islet cells and in the salivary gland, expressed in acinar cells
Sequence 
MRERIWAPPLLLLLPLLLPPPLWGGPPDSPRRELELEPGPLQPFDLLYASGAAAYYSGDY
ERAVRDLEAALRSHRRLREIRTRCARHCAARHPLPPPPPGEGPGAELPLFRSLLGRARCY
RSCETQRLGGPASRHRVSEDVRSDFQRRVPYNYLQRAYIKLNQLEKAVEAAHTFFVANPE
HMEMQQNIENYRATAGVEALQLVDREAKPHMESYNAGVKHYEADDFEMAIRHFEQALREY
FVEDTECRTLCEGPQRFEEYEYLGYKAGLYEAIADHYMQVLVCQHECVRELATRPGRLSP
IENFLPLHYDYLQFAYYRVGEYVKALECAKAYLLCHPDDEDVLDNVDYYESLLDDSIDPA
SIEAREDLTMFVKRHKLESELIKSAAEGLGFSYTEPNYWIRYGGRQDENRVPSGVNVEGA
EVHGFSMGKKLSPKIDRDLREGGPLLYENITFVYNSEQLNGTQRVLLDNVLSEEQCRELH
SVASGIMLVGDGYRGKTSPHTPNEKFEGATVLKALKSGYEGRVPLKSARLFYDISEKARR
IVESYFMLNSTLYFSYTHMVCRTALSGQQDRRNDLSHPIHADNCLLDPEANECWKEPPAY
TFRDYSALLYMNDDFEGGEFIFTEMDAKTVTASIKPKCGRMISFSSGGENPHGVKAVTKG
KRCAVALWFTLDPLYRELERIQADEVIAILDQEQQGKHELNINPKDEL
Sequence length 708
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Collagen biosynthesis and modifying enzymes
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
59
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Melanoma Likely pathogenic rs1577254356 RCV005925534
Myopia, high, with cataract and vitreoretinal degeneration Pathogenic; Likely pathogenic rs2108908334, rs773586841, rs724160006, rs875989838, rs724159988, rs1408355931, rs377600857 RCV001806438
RCV004785412
RCV000149825
RCV000210936
RCV003486336
RCV000023807
RCV000787019
RCV001809893
P3H2-related disorder Likely pathogenic; Pathogenic rs1440913446 RCV003416301
Rare isolated myopia Pathogenic rs200083855 RCV003389506
Show/Hide Unknown Diseases (9)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholangiocarcinoma Uncertain significance rs200679629 RCV005913562
Colon adenocarcinoma Uncertain significance rs139465966 RCV005911058
Hepatocellular carcinoma Benign; Likely benign rs2278760 RCV005914316
Lung cancer Benign; Likely benign; Uncertain significance rs2278760, rs765345631 RCV005914318
RCV005913596
Show/Hide Text Mining Associations (8)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Inhibit 19436308
Cataract Associate 33339270
Hyperlipoproteinemia Type II Associate 32792077
Lung Neoplasms Associate 29981437
Myopia Associate 21885030, 28442722
Osteoarthritis Associate 32840049
Pulmonary Disease Chronic Obstructive Associate 32234053
Urinary Bladder Neoplasms Associate 29956121