P3H2 (prolyl 3-hydroxylase 2)

2003-12-01  

Identity

HGNC
P3H2
LOCATION
3q28
LOCUSID
55214
ALIAS
LEPREL1,MCVD,MLAT4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 55214
MIM: 610341
HGNC: 19317
Ensembl: ENSG00000090530

Variants:

dbSNP: 55214
ClinVar: 55214
TCGA: ENSG00000090530
COSMIC: P3H2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000090530ENST00000319332Q8IVL5
ENSG00000090530ENST00000426003C9JSL4
ENSG00000090530ENST00000427335Q8IVL5
ENSG00000090530ENST00000444866C9J313

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
Collagen formationREACTOMER-HSA-1474290
Collagen biosynthesis and modifying enzymesREACTOMER-HSA-1650814

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
339188072021Prolyl 3-Hydroxylase 2 Is a Molecular Player of Angiogenesis.1
339188072021Prolyl 3-Hydroxylase 2 Is a Molecular Player of Angiogenesis.1
306081932019Further phenotypic characterization of LEPREL1-related ectopia lentis.1
306081932019Further phenotypic characterization of LEPREL1-related ectopia lentis.1
299561212018Identification of an enhancer region within the TP63/LEPREL1 locus containing genetic variants associated with bladder cancer risk.6
299561212018Identification of an enhancer region within the TP63/LEPREL1 locus containing genetic variants associated with bladder cancer risk.6
254695332015Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype.12
254695332015Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype.12
241722572014Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract.27
255251682014Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.47
241722572014Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract.27
255251682014Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.47
217576872011A role for prolyl 3-hydroxylase 2 in post-translational modification of fibril-forming collagens.19
218850302011High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.45
217576872011A role for prolyl 3-hydroxylase 2 in post-translational modification of fibril-forming collagens.19

Citation

Dessen P

P3H2 (prolyl 3-hydroxylase 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/41141