Property Summary

NCBI Gene PubMed Count 16
PubMed Score 2.24
PubTator Score 1.75

Knowledge Summary

Patent (1,760)

Expression

  Differential Expression (9)

Disease log2 FC p
nephrosclerosis -1.117 0.007
psoriasis -1.900 0.001
glioblastoma 1.900 0.000
cystic fibrosis -2.580 0.000
primitive neuroectodermal tumor 1.600 0.037
colon cancer -1.300 0.022
adult high grade glioma 1.700 0.000
pilocytic astrocytoma 3.300 0.000
ovarian cancer -1.300 0.000

MLP Assay (1)

AID Type Active / Inconclusive / Inactive Description
1982 other 0 / 0 / 0 Kinase inhibition selectivity assay for compound SID-48409448

Gene RIF (5)

PMID Text
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20087401 STK32B and EVC yielded consistent evidence from cleft lip, with or without cleft palate, trios in all four populations.
20087401 Observational study of gene-disease association. (HuGE Navigator)
19240061 Observational study of gene-disease association. (HuGE Navigator)
18454448 In a consanguineous pedigree diagnosed with EvC and borderline intelligence, a 520-kb homozygous deletion comprising EVC, EVC2, C4orf6, and STK32B, caused by recombination between LINE-1 elements, was detected

AA Sequence

MGGNHSHKPPVFDENEEVNFDHFQILRAIGKGSFGKVCIVQKRDTKKMYAMKYMNKQKCIERDEVRNVFR      1 - 70
ELQIMQGLEHPFLVNLWYSFQDEEDMFMVVDLLLGGDLRYHLQQNVHFTEGTVKLYICELALALEYLQRY     71 - 140
HIIHRDIKPDNILLDEHGHVHITDFNIATVVKGAERASSMAGTKPYMAPEVFQVYMDRGPGYSYPVDWWS    141 - 210
LGITAYELLRGWRPYEIHSVTPIDEILNMFKVERVHYSSTWCKGMVALLRKLLTKDPESRVSSLHDIQSV    211 - 280
PYLADMNWDAVFKKALMPGFVPNKGRLNCDPTFELEEMILESKPLHKKKKRLAKNRSRDGTKDSCPLNGH    281 - 350
LQHCLETVREEFIIFNREKLRRQQGQGSQLLDTDSRGGGQAQSKLQDGCNNNLLTHTCTRGCSS          351 - 414
//

Publication (17)

PMID Year Title
23936387 2013 A possible mechanism behind autoimmune disorders discovered by genome-wide linkage and association analysis in celiac disease.
23834954 2013 Genome-wide association study of sensory disturbances in the inferior alveolar nerve after bilateral sagittal split ramus osteotomy.
23535033 2014 Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
21626137 2011 Two-marker association tests yield new disease associations for coronary artery disease and hypertension.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20087401 2010 Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.
19389651 2009 Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae.
19240061 2009 Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
18454448 2008 Long interspersed nuclear element-1 (LINE1)-mediated deletion of EVC, EVC2, C4orf6, and STK32B in Ellis-van Creveld syndrome with borderline intelligence.
17344846 2007 Patterns of somatic mutation in human cancer genomes.
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