P3H2 - prolyl 3-hydroxylase 2 Gene

Also Known as MCVD; MLAT4; LEPREL1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55214

About P3H2

Cytogenetic location: 3q28 Genomic coordinates (GRCh38): 3:189,956,728-190,122,278 (from NCBI)

This gene has 10 transcripts (splice variants), 204 orthologues, 2 paralogues and is associated with 3 phenotypes. Broad expression in prostate (RPKM 22.0), kidney (RPKM 21.3) and 20 other tissues.

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 proline residues. Mutations in this gene are associated with nonsyndromic severe myopia with cataract and vitreoretinal degeneration, and downregulation of this gene may play a role in breast Cancer. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

P3H2 Products (2)

mRNA	Protein	Name
NM_001134418.2	NP_001127890.1	prolyl 3-hydroxylase 2 isoform b
NM_018192.4	NP_060662.2	prolyl 3-hydroxylase 2 isoform a precursor

P3H2 Protein Structure

TPR_2

2OG-FeII_Oxy_3

0
200
400
600
708 a.a.

Protein Preferred Names	Protein Names
prolyl 3-hydroxylase 2	leprecan-like 1

Related Diseases

Diseases	Alias
Myopia, High, With Cataract And Vitreoretinal Degeneration	MCVD
Rare Isolated Myopia
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Lens Subluxation	Subluxation Of Lens
Myopia	Near-Sightedness Short-Sightedness Nearsightedness Nearsighted Near Vision Close Sighted Myopic Short-Sighted Near Sighted
Vitreoretinal Degeneration
Osteogenesis Imperfecta, Type Viii	Osteogenesis Imperfecta Type 8 OI8 Osteogenesis Imperfecta Type Viii Oi Type Viii Oi, Type Viii Osteogenesis Imperfecta 8 Oi-Viii
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Myxoid Liposarcoma	Myxoid/Round Cell Liposarcoma Liposarcoma, Myxoid Mrcls Myxoliposarcoma MXLIPO Liposarcoma Myxoid Liposarcoma
Retinal Detachment	Retinal Detachments Rhegmatogenous Retinal Detachment Ruptured Retina With Detachment Retinal Hole With Detachment
Joubert Syndrome 4	JBTS4 Joubert Syndrome With Renal Defect Joubert Syndrome With Renal Anomalies Js-R Joubert Syndrome, Type 4
Refractive Error	Refractive Errors
Isolated Ectopia Lentis	Familial Ectopia Lentis Ectopia Lentis Ectopia Lentis Syndrome Lens Subluxation Iel Congenital Ectopia Lentis Subluxation Of Lens Ectopia Lentis, Isolated Ectopia Lentis Isolated
Hypotonia-Cystinuria Syndrome	Cystinuria With Mitochondrial Disease 2p21 Microdeletion Syndrome HCS Homozygous 2p16 Deletion Syndrome, Formerly 2p21 Deletion Syndrome Del(2)(P21) Monosomy 2p21 Atypical Hypotonia-Cystinuria Syndrome Atypical Hcs
Stickler Syndrome	Arthroophthalmopathy Hereditary Arthro-Ophthalmo-Dystrophy Hereditary Arthro-Ophthalmopathy Stickler Dysplasia Hereditary Progressive Arthroophthalmopathy Stickler Syndrome, Type 1
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09939	P3H2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	P3H2	MGD	MGI:2146663
Canis familiaris	P3H2	VGNC	VGNC:44220
Felis catus	P3H2	VGNC	VGNC:64014
Macaca mulatta	P3H2	VGNC	VGNC:75649
Rattus norvegicus	P3H2	RGD	RGD:1304568
Bos taurus	P3H2	VGNC	VGNC:32533
Others	P3H2	NCBI