Property Summary

NCBI Gene PubMed Count 29
PubMed Score 13.00
PubTator Score 20.14

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (3)

Disease Target Count P-value
lung adenocarcinoma 2714 2.2749817362404E-12
osteosarcoma 7933 6.08512340906336E-9
posterior fossa group B ependymoma 1530 8.58517100519759E-8
atypical teratoid / rhabdoid tumor 4369 1.94267955453198E-7
fascioscapulohumeral muscular dystrophy 100 2.72251115972284E-7
glioblastoma 5572 1.1316771151444E-5
adrenocortical carcinoma 1427 3.12040562082738E-5
ovarian cancer 8492 1.07319095390407E-4
psoriasis 6685 5.36916852698529E-4
medulloblastoma, large-cell 6234 8.53526706937954E-4
pancreatic carcinoma 567 0.00107141934482869
pancreatic cancer 2300 0.0010714193448287
group 3 medulloblastoma 2254 0.00212342776764496
cutaneous lupus erythematosus 1056 0.00240664766057018
adult high grade glioma 2148 0.00382487638135373
pituitary cancer 1972 0.00422141479121022
intraductal papillary-mucinous adenoma (IPMA) 2956 0.00457605738671758
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.00545684523825456
Pick disease 1893 0.00612677283786405
astrocytic glioma 2241 0.00689472690856128
oligodendroglioma 2849 0.0110197243182306
spina bifida 1064 0.026905982052635

Expression

Gene

PDB

1EAZ  

  Ortholog (10)

 GWAS Trait (1)

Gene RIF (14)

PMID Text
26427389 Studies indicate that the high-risk allele of the 10q26 locus encompasses three genes, PLEKHA1, ARMS2, and HTRA1 with high linkage disequilibrium.
25050486 CX3CR1 (T280M and V249I) and PLEKHA1 (A320T) polymorphisms were not found to be associated with age-related macular degeneration in an Indian population.
24013816 This study provides evidence of the joint contribution of genetic variants in PLEKHA1/ARMS2/HTRA1 to age-related macular degeneration risk.
19948975 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
18164066 Independent of CFH genotype or smoking history, an individual's risk of AMD (age-related macular degeneration) could be increased or decreased, depending on their genotype or haplotype in the 10q26 region.
18164066 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
18079691 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18079691 Although a role for PLEKHA1 could not be totally excluded, there was a four times higher age-related macular degeneration risk was associated with haplotype "A-T-A" involving "PLEKHA1-LOC387715-HTRA1" risk alleles.
17884985 Observational study of gene-disease association. (HuGE Navigator)
17000705 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
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AA Sequence

MPYVDRQNRICGFLDIEENENSGKFLRRYFILDTREDSFVWYMDNPQNLPSGSSRVGAIKLTYISKVSDA      1 - 70
TKLRPKAEFCFVMNAGMRKYFLQANDQQDLVEWVNVLNKAIKITVPKQSDSQPNSDNLSRHGECGKKQVS     71 - 140
YRTDIVGGVPIITPTQKEEVNECGESIDRNNLKRSQSHLPYFTPKPPQDSAVIKAGYCVKQGAVMKNWKR    141 - 210
RYFQLDENTIGYFKSELEKEPLRVIPLKEVHKVQECKQSDIMMRDNLFEIVTTSRTFYVQADSPEEMHSW    211 - 280
IKAVSGAIVAQRGPGRSASSEHPPGPSESKHAFRPTNAATATSHSTASRSNSLVSTFTMEKRGFYESLAK    281 - 350
VKPGNFKVQTVSPREPASKVTEQALLRPQSKNGPQEKDCDLVDLDDASLPVSDV                    351 - 404
//

Text Mined References (33)

PMID Year Title
26427389 2016 Gene Structure of the 10q26 Locus: A Clue to Cracking the ARMS2/HTRA1 Riddle?
25050486 2014 Study of Polymorphisms in CX3CR1, PLEKHA1 and VEGF genes as risk factors for age-related macular degeneration in Indian patients.
24509480 2014 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
24013816 2013 Cumulative association between age-related macular degeneration and less studied genetic variants in PLEKHA1/ARMS2/HTRA1: a meta and gene-cluster analysis.
23577725 2013 Genetic factors in nonsmokers with age-related macular degeneration revealed through genome-wide gene-environment interaction analysis.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
21406692 2011 System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
20189936 2010 A genome-wide association study in 19 633 Japanese subjects identified LHX3-QSOX2 and IGF1 as adult height loci.
19948975 2009 Integrative predictive model of coronary artery calcification in atherosclerosis.
19690332 2009 Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
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