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P3H2

GENERAL INFORMATION

Gene name

 P3H2

Gene description

 Prolyl 3-hydroxylase 2

Protein class

 Disease related genes
Enzymes
Potential drug targets
Predicted intracellular proteins
Predicted secreted proteins

Predicted localization

 Intracellular,Secreted

Number of transcripts

 4
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Mixed
GTEx:Mixed
FANTOM5:Tissue enhanced (kidney)

Protein evidence

 Evidence at protein level

Protein expression

 Ubiquitous cytoplasmic expression in most tissues. Highest expression in CNS, gastrointestinal tract and in squamous epithelia.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly not consistent with RNA expression data. Pending external verification.

Reliability score

 Approved based on 2 antibodies.
HPA007890 , HPA013355
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Adrenal gland

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Mixed
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (kidney)

GENE INFORMATION

Gene name

 P3H2 (HGNC Symbol)

Synonyms

 FLJ10718, LEPREL1, MLAT4

Description

 Prolyl 3-hydroxylase 2 (HGNC Symbol)

Entrez gene 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]

Chromosome

 3

Cytoband

 q28

Chromosome location (bp)

 189956728 - 190122437

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000090530 (version 83.38)

Entrez gene

 55214

UniProt

 Q8IVL5 (UniProt - Evidence at protein level)

neXtProt

 NX_Q8IVL5

Antibodypedia

 P3H2 antibodies

PROTEIN BROWSER
P3H2-001
P3H2-002
P3H2-003
P3H2-004

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
P3H2-001
ENSP00000316881
ENST00000319332
Q8IVL5 [Direct mapping]
Prolyl 3-hydroxylase 2
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Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted secreted proteins
   Secreted proteins predicted by MDSEC
   SignalP predicted secreted proteins
   Phobius predicted secreted proteins
   SPOCTOPUS predicted secreted proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506 [iron ion binding]
GO:0005604 [basement membrane]
GO:0005783 [endoplasmic reticulum]
GO:0005788 [endoplasmic reticulum lumen]
GO:0005794 [Golgi apparatus]
GO:0008285 [negative regulation of cell proliferation]
GO:0016491 [oxidoreductase activity]
GO:0016705 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen]
GO:0019511 [peptidyl-proline hydroxylation]
GO:0019797 [procollagen-proline 3-dioxygenase activity]
GO:0030198 [extracellular matrix organization]
GO:0031418 [L-ascorbic acid binding]
GO:0032963 [collagen metabolic process]
GO:0055114 [oxidation-reduction process]
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 708 aa
81 kDa 		Yes 0
P3H2-002
ENSP00000408947
ENST00000427335
Q8IVL5 [Direct mapping]
Prolyl 3-hydroxylase 2
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Enzymes
   ENZYME proteins
   Oxidoreductases
Predicted intracellular proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005506 [iron ion binding]
GO:0005604 [basement membrane]
GO:0005783 [endoplasmic reticulum]
GO:0005788 [endoplasmic reticulum lumen]
GO:0005794 [Golgi apparatus]
GO:0008285 [negative regulation of cell proliferation]
GO:0016491 [oxidoreductase activity]
GO:0016705 [oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen]
GO:0019511 [peptidyl-proline hydroxylation]
GO:0019797 [procollagen-proline 3-dioxygenase activity]
GO:0030198 [extracellular matrix organization]
GO:0031418 [L-ascorbic acid binding]
GO:0032963 [collagen metabolic process]
GO:0055114 [oxidation-reduction process]
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 527 aa
60.4 kDa 		No 0
P3H2-003
ENSP00000394326
ENST00000426003
C9JSL4 [Direct mapping]
Prolyl 3-hydroxylase 2
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 134 aa
15.8 kDa 		No 0
P3H2-004
ENSP00000391374
ENST00000444866
C9J313 [Direct mapping]
Prolyl 3-hydroxylase 2
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Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 137 aa
16.3 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.