P3H2 (prolyl 3-hydroxylase 2)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
55214
Gene name Gene Name - the full gene name approved by the HGNC.
Prolyl 3-hydroxylase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
P3H2
Synonyms (NCBI Gene) Gene synonyms aliases
LEPREL1, MCVD, MLAT4
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3q28
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610341 19317 ENSG00000090530
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Myopia, High, With Cataract And Vitreoretinal Degeneration myopia, high, with cataract and vitreoretinal degeneration rs724159988, rs724160006, rs875989838, rs1408355931, rs377600857 N/A
Retinitis Pigmentosa retinitis pigmentosa rs377600857 N/A
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Breast Cancer Breast cancer, Postmenopausal breast cancer N/A N/A GWAS
Cervical Cancer Cervical cancer N/A N/A GWAS
Osteoarthritis Of Hip Osteoarthritis of the hip or knee (with total joint replacement) N/A N/A GWAS
Psoriasis Psoriasis N/A N/A GWAS
Show/Hide Text Mining Associations (8)
Associations from Text Mining Disease 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