Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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
Disease Acronyms (UniProt) Disease acronyms from UniProt database	MCVD
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

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
rs778079243	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs895635914	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1064796858	C>A	Pathogenic	Splice donor variant
rs1408355931	C>A,G,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant

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
MIRT635562	hsa-miR-625-5p	HITS-CLIP	23824327
MIRT635561	hsa-miR-4723-5p	HITS-CLIP	23824327
MIRT635560	hsa-miR-5698	HITS-CLIP	23824327
MIRT635559	hsa-miR-6870-5p	HITS-CLIP	23824327
MIRT635558	hsa-miR-7111-5p	HITS-CLIP	23824327
MIRT635557	hsa-miR-4525	HITS-CLIP	23824327
MIRT635556	hsa-miR-5010-5p	HITS-CLIP	23824327
MIRT635555	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT635554	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT635553	hsa-miR-1275	HITS-CLIP	23824327
MIRT635552	hsa-miR-4665-5p	HITS-CLIP	23824327
MIRT635551	hsa-miR-7109-5p	HITS-CLIP	23824327
MIRT635550	hsa-miR-6751-5p	HITS-CLIP	23824327
MIRT635549	hsa-miR-6803-5p	HITS-CLIP	23824327
MIRT635548	hsa-miR-450a-2-3p	HITS-CLIP	23824327
MIRT635547	hsa-miR-4260	HITS-CLIP	23824327
MIRT635546	hsa-miR-5572	HITS-CLIP	23824327
MIRT635545	hsa-miR-4455	HITS-CLIP	23824327
MIRT635544	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT458700	hsa-miR-5197-3p	PAR-CLIP	23592263
MIRT458699	hsa-miR-570-3p	PAR-CLIP	23592263
MIRT458698	hsa-miR-3653-3p	PAR-CLIP	23592263
MIRT458697	hsa-miR-627-5p	PAR-CLIP	23592263
MIRT742318	hsa-miR-1275	HITS-CLIP	27418678
MIRT742318	hsa-miR-1275	HITS-CLIP	27418678
MIRT741087	hsa-miR-147a	HITS-CLIP	27418678
MIRT741087	hsa-miR-147a	HITS-CLIP	27418678
MIRT741087	hsa-miR-147a	HITS-CLIP	27418678
MIRT741087	hsa-miR-147a	HITS-CLIP	27418678
MIRT742324	hsa-miR-4260	HITS-CLIP	27418678
MIRT742324	hsa-miR-4260	HITS-CLIP	27418678
MIRT742326	hsa-miR-4455	HITS-CLIP	27418678
MIRT742326	hsa-miR-4455	HITS-CLIP	27418678
MIRT742326	hsa-miR-4455	HITS-CLIP	27418678
MIRT742326	hsa-miR-4455	HITS-CLIP	27418678
MIRT742323	hsa-miR-450a-2-3p	HITS-CLIP	27418678
MIRT742323	hsa-miR-450a-2-3p	HITS-CLIP	27418678
MIRT742315	hsa-miR-4525	HITS-CLIP	27418678
MIRT742315	hsa-miR-4525	HITS-CLIP	27418678
MIRT742319	hsa-miR-4665-5p	HITS-CLIP	27418678
MIRT742319	hsa-miR-4665-5p	HITS-CLIP	27418678
MIRT742311	hsa-miR-4723-5p	HITS-CLIP	27418678
MIRT742311	hsa-miR-4723-5p	HITS-CLIP	27418678
MIRT742316	hsa-miR-5010-5p	HITS-CLIP	27418678
MIRT742316	hsa-miR-5010-5p	HITS-CLIP	27418678
MIRT742325	hsa-miR-5572	HITS-CLIP	27418678
MIRT742325	hsa-miR-5572	HITS-CLIP	27418678
MIRT742312	hsa-miR-5698	HITS-CLIP	27418678
MIRT742312	hsa-miR-5698	HITS-CLIP	27418678
MIRT741088	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT741088	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT741088	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT741088	hsa-miR-574-5p	HITS-CLIP	27418678
MIRT742310	hsa-miR-625-5p	HITS-CLIP	27418678
MIRT742310	hsa-miR-625-5p	HITS-CLIP	27418678
MIRT742317	hsa-miR-6740-5p	HITS-CLIP	27418678
MIRT742317	hsa-miR-6740-5p	HITS-CLIP	27418678
MIRT742321	hsa-miR-6751-5p	HITS-CLIP	27418678
MIRT742321	hsa-miR-6751-5p	HITS-CLIP	27418678
MIRT742322	hsa-miR-6803-5p	HITS-CLIP	27418678
MIRT742322	hsa-miR-6803-5p	HITS-CLIP	27418678
MIRT741086	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT741086	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT741086	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT741086	hsa-miR-6818-5p	HITS-CLIP	27418678
MIRT741085	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT741085	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT741085	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT741085	hsa-miR-6867-5p	HITS-CLIP	27418678
MIRT742313	hsa-miR-6870-5p	HITS-CLIP	27418678
MIRT742313	hsa-miR-6870-5p	HITS-CLIP	27418678
MIRT742320	hsa-miR-7109-5p	HITS-CLIP	27418678
MIRT742320	hsa-miR-7109-5p	HITS-CLIP	27418678
MIRT742314	hsa-miR-7111-5p	HITS-CLIP	27418678
MIRT742314	hsa-miR-7111-5p	HITS-CLIP	27418678
MIRT741084	hsa-miR-891b	HITS-CLIP	23313552
MIRT741085	hsa-miR-6867-5p	HITS-CLIP	23313552
MIRT741086	hsa-miR-6818-5p	HITS-CLIP	23313552
MIRT741087	hsa-miR-147a	HITS-CLIP	23313552
MIRT741088	hsa-miR-574-5p	HITS-CLIP	23313552
MIRT742310	hsa-miR-625-5p	HITS-CLIP	23824327
MIRT742311	hsa-miR-4723-5p	HITS-CLIP	23824327
MIRT742312	hsa-miR-5698	HITS-CLIP	23824327
MIRT742313	hsa-miR-6870-5p	HITS-CLIP	23824327
MIRT742314	hsa-miR-7111-5p	HITS-CLIP	23824327
MIRT742315	hsa-miR-4525	HITS-CLIP	23824327
MIRT742316	hsa-miR-5010-5p	HITS-CLIP	23824327
MIRT741085	hsa-miR-6867-5p	HITS-CLIP	23824327
MIRT742317	hsa-miR-6740-5p	HITS-CLIP	23824327
MIRT742318	hsa-miR-1275	HITS-CLIP	23824327
MIRT742319	hsa-miR-4665-5p	HITS-CLIP	23824327
MIRT742320	hsa-miR-7109-5p	HITS-CLIP	23824327
MIRT742321	hsa-miR-6751-5p	HITS-CLIP	23824327
MIRT742322	hsa-miR-6803-5p	HITS-CLIP	23824327
MIRT742323	hsa-miR-450a-2-3p	HITS-CLIP	23824327
MIRT742324	hsa-miR-4260	HITS-CLIP	23824327
MIRT742325	hsa-miR-5572	HITS-CLIP	23824327
MIRT742326	hsa-miR-4455	HITS-CLIP	23824327
MIRT741088	hsa-miR-574-5p	HITS-CLIP	23824327
MIRT755158	hsa-miR-5197-3p	PAR-CLIP	23592263
MIRT755159	hsa-miR-570-3p	PAR-CLIP	23592263
MIRT755160	hsa-miR-3653-3p	PAR-CLIP	23592263
MIRT755161	hsa-miR-627-5p	PAR-CLIP	23592263

Show/Hide all(17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005506	Function	Iron ion binding	IEA
GO:0005604	Component	Basement membrane	ISS
GO:0005654	Component	Nucleoplasm	IDA
GO:0005783	Component	Endoplasmic reticulum	IBA	21873635
GO:0005783	Component	Endoplasmic reticulum	IDA	15063763
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005794	Component	Golgi apparatus	IDA	15063763
GO:0005829	Component	Cytosol	IDA
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	19436308
GO:0016529	Component	Sarcoplasmic reticulum	IEA
GO:0019511	Process	Peptidyl-proline hydroxylation	IDA	18487197
GO:0019797	Function	Procollagen-proline 3-dioxygenase activity	IBA	21873635
GO:0019797	Function	Procollagen-proline 3-dioxygenase activity	IDA	18487197
GO:0031418	Function	L-ascorbic acid binding	IEA
GO:0032963	Process	Collagen metabolic process	IBA	21873635
GO:0032963	Process	Collagen metabolic process	IDA	18487197
GO:0043231	Component	Intracellular membrane-bounded organelle	IDA

MIM	HGNC	e!Ensembl
610341	19317	ENSG00000090530

Protein

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

	Reactome
			Collagen biosynthesis and modifying enzymes

Show/Hide Causal Diseases (5)

Disease term	Disease name	dbSNP ID	References
Causal
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158 View all (309 more)
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322 View all (150 more)
Myopia	Myopia, Severe myopia	rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805 View all (6 more)	21885030
Myopia, high, with cataract and vitreoretinal degeneration	MYOPIA, HIGH, WITH CATARACT AND VITREORETINAL DEGENERATION	rs724159988, rs724160006, rs875989838, rs1408355931, rs377600857	21885030
Rare isolated myopia	Rare isolated myopia	rs773243225

Show/Hide Unknown Diseases (5)

Disease term	Disease name	Evidence	Source
Unknown
Cervical Cancer	Cervical Cancer	Our screens identified 10 miRNAs that enhance fitness of HeLa cells and have been reported to be up-regulated in cervical cancer (Table2).	GWAS, CBGDA
Psoriasis	Psoriasis		GWAS
Psoriasis vulgaris	Psoriasis vulgaris		GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients	GWAS, CBGDA
Osteoarthritis Of Hip	Osteoarthritis Of Hip		GWAS

Show/Hide Text Mining Associations (8)

Disease Name	Relationship Type	References
Associations from Text Mining
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

P3H2 (prolyl 3-hydroxylase 2)