Property Summary

NCBI Gene PubMed Count 17
Grant Count 6
R01 Count 4
Funding $310,602.8
PubMed Score 287.30
PubTator Score 24.26

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (21)

Disease log2 FC p
urothelial carcinoma -2.200 0.000
malignant mesothelioma -4.000 0.000
osteosarcoma 3.583 0.000
ependymoma 2.100 0.000
glioblastoma 1.400 0.001
cystic fibrosis -1.964 0.000
atypical teratoid / rhabdoid tumor 1.300 0.027
non-small cell lung cancer -1.415 0.000
lung cancer -2.300 0.001
breast carcinoma -1.500 0.000
interstitial cystitis -1.600 0.000
lung adenocarcinoma -2.700 0.000
adult high grade glioma 1.500 0.000
pilocytic astrocytoma 2.500 0.000
subependymal giant cell astrocytoma 2.574 0.017
invasive ductal carcinoma -1.900 0.000
Breast cancer -2.800 0.000
pulmonary arterial hypertension -3.400 0.045
lung carcinoma -2.700 0.000
ductal carcinoma in situ -1.100 0.001
ovarian cancer 1.900 0.007

Gene RIF (9)

PMID Text
25525168 mutation in LRPAP1 is associated with high myopia. Further studies are expected to evaluate the pathogenicity of the variants in CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2.
25469533 Recessive LEPREL1 mutations should be recognized as part of the differential diagnosis of lens subluxation.
24172257 LEPREL1 plays an important role in eye development and homozygous loss-of-function mutation of this gene can cause severely high myopia and early-onset cataract.
21885030 High myopia is caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.
21757687 P3H2 has preferred substrate sequences among the classes of 3Hyp sites in clade A collagen chains
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19436308 The restriction of silencing in P3H2 to breast carcinomas, and its association with oestrogen-receptor-positive cases, suggests that P3H2 may be a breast-cancer-specific tumour suppressor.
18519826 Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18487197 P3H2 is responsible for the hydroxylation of collagen IV, which has the highest 3-hydroxyproline content of all collagens. It is thus possible that P3H2 mutations may lead to a disease with changes in basement membranes.

AA Sequence

MRERIWAPPLLLLLPLLLPPPLWGGPPDSPRRELELEPGPLQPFDLLYASGAAAYYSGDYERAVRDLEAA      1 - 70
LRSHRRLREIRTRCARHCAARHPLPPPPPGEGPGAELPLFRSLLGRARCYRSCETQRLGGPASRHRVSED     71 - 140
VRSDFQRRVPYNYLQRAYIKLNQLEKAVEAAHTFFVANPEHMEMQQNIENYRATAGVEALQLVDREAKPH    141 - 210
MESYNAGVKHYEADDFEMAIRHFEQALREYFVEDTECRTLCEGPQRFEEYEYLGYKAGLYEAIADHYMQV    211 - 280
LVCQHECVRELATRPGRLSPIENFLPLHYDYLQFAYYRVGEYVKALECAKAYLLCHPDDEDVLDNVDYYE    281 - 350
SLLDDSIDPASIEAREDLTMFVKRHKLESELIKSAAEGLGFSYTEPNYWIRYGGRQDENRVPSGVNVEGA    351 - 420
EVHGFSMGKKLSPKIDRDLREGGPLLYENITFVYNSEQLNGTQRVLLDNVLSEEQCRELHSVASGIMLVG    421 - 490
DGYRGKTSPHTPNEKFEGATVLKALKSGYEGRVPLKSARLFYDISEKARRIVESYFMLNSTLYFSYTHMV    491 - 560
CRTALSGQQDRRNDLSHPIHADNCLLDPEANECWKEPPAYTFRDYSALLYMNDDFEGGEFIFTEMDAKTV    561 - 630
TASIKPKCGRMISFSSGGENPHGVKAVTKGKRCAVALWFTLDPLYRELERIQADEVIAILDQEQQGKHEL    631 - 700
NINPKDEL                                                                  701 - 708
//

Text Mined References (19)

PMID Year Title
25525168 2014 Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.
25469533 2015 Recessive mutations in LEPREL1 underlie a recognizable lens subluxation phenotype.
24172257 2014 Homozygous loss-of-function mutation of the LEPREL1 gene causes severe non-syndromic high myopia with early-onset cataract.
21885030 2011 High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2.
21757687 2011 A role for prolyl 3-hydroxylase 2 in post-translational modification of fibril-forming collagens.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19436308 2009 The prolyl 3-hydroxylases P3H2 and P3H3 are novel targets for epigenetic silencing in breast cancer.
18519826 2008 Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
18487197 2008 Characterization of recombinant human prolyl 3-hydroxylase isoenzyme 2, an enzyme modifying the basement membrane collagen IV.
16959974 2006 The consensus coding sequences of human breast and colorectal cancers.
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