Property Summary

NCBI Gene PubMed Count 17
Grant Count 3
Funding $118,610
PubMed Score 61.36
PubTator Score 298.33

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
urothelial carcinoma -2.600 0.000
intraductal papillary-mucinous adenoma (... 2.900 0.001
interstitial cystitis -2.600 0.000
ulcerative colitis -1.100 0.000
psoriasis 3.200 0.000

Gene RIF (11)

PMID Text
25875328 these mutations in CPA6 are deleterious and provide further evidence for the involvement of CPA6 mutations in the predisposition for several types of epilepsy.
24290490 Significantly higher levels of DNA methylation are found in the CPA6 promoter in focal epilepsy and febrile seizure patients.
23105115 These results provide further evidence for the involvement of CPA6 mutations in human epilepsy.
21922598 CPA6 mutatins are genetically linked to an autosomal recessive familial form of febrile seizures and temporal lobe epilepsy (TLE), and are associated with sporadic TLE cases.
20855895 Substrate specificity of human carboxypeptidase A6
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19790060 Thrombin activation of osteopontin (OPN) (resulting in OPN-R) and its subsequent inactivation by thrombin-activatable carboxypeptidase B (generating OPN-L) occurs locally within inflamed joints in rheumatoid arthritis.
18178555 CPA6 may have a role in the regulation of neuropeptides in the extracellular environment within the olfactory bulb and other parts of the brain
More...

AA Sequence

MKCLGKRRGQAAAFLPLCWLFLKILQPGHSHLYNNRYAGDKVIRFIPKTEEEAYALKKISYQLKVDLWQP      1 - 70
SSISYVSEGTVTDVHIPQNGSRALLAFLQEANIQYKVLIEDLQKTLEKGSSLHTQRNRRSLSGYNYEVYH     71 - 140
SLEEIQNWMHHLNKTHSGLIHMFSIGRSYEGRSLFILKLGRRSRLKRAVWIDCGIHAREWIGPAFCQWFV    141 - 210
KEALLTYKSDPAMRKMLNHLYFYIMPVFNVDGYHFSWTNDRFWRKTRSRNSRFRCRGVDANRNWKVKWCD    211 - 280
EGASMHPCDDTYCGPFPESEPEVKAVANFLRKHRKHIRAYLSFHAYAQMLLYPYSYKYATIPNFRCVESA    281 - 350
AYKAVNALQSVYGVRYRYGPASTTLYVSSGSSMDWAYKNGIPYAFAFELRDTGYFGFLLPEMLIKPTCTE    351 - 420
TMLAVKNITMHLLKKCP                                                         421 - 437
//

Text Mined References (17)

PMID Year Title
25875328 2015 Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy.
25201988 2014 Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
25102180 2014 Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes.
25060954 2014 Salt-inducible kinase 3, SIK3, is a new gene associated with hearing.
24290490 2014 Increased CPA6 promoter methylation in focal epilepsy and in febrile seizures.
23105115 2012 Naturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy.
21922598 2012 Carboxypeptidase A6 gene (CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.
20855895 2010 Substrate specificity of human carboxypeptidase A6.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
More...