P3H2 - prolyl 3-hydroxylase 2 Gene

Homo sapiens

Also known as MCVD; MLAT4; LEPREL1

Gene ID: 55214 | Gene type: protein coding

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

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