Gene: CNTN4

Alternate names for this Gene: AXCAM|BIG-2

Gene Summary: This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 3

Location in Chromosome : 3p26.3-p26.2

Description of this Gene: contactin 4

Type of Gene: protein-coding

rs6768500 in CNTN4 gene and Atypical femoral fracture PMID 31006051 2019 A Genome-Wide Association Study of Bisphosphonate-Associated Atypical Femoral Fracture.

rs13071423 in CNTN4 gene and Blood Protein Measurement PMID 29875488 2018 Genomic atlas of the human plasma proteome.

rs17194490 in CNTN4 gene and Child Development Disorders, Pervasive PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

rs41526344 in CNTN4 gene and Chronic Obstructive Airway Disease PMID 28044437 2017 Body mass index change in gastrointestinal cancer and chronic obstructive pulmonary disease is associated with Dedicator of Cytokinesis 1.

rs11713158 in CNTN4 gene and Intelligence PMID 22449649 2012 Genome-wide association study of intelligence: additive effects of novel brain expressed genes.

PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

rs975334 in CNTN4 gene and Malignant neoplasm of gallbladder PMID 22318345 2012 A genome-wide association study identifies SNP in DCC is associated with gallbladder cancer in the Japanese population.

rs11708578 in CNTN4 gene and Schizophrenia PMID 28991256 2017 Genome-wide association analysis identifies 30 new susceptibility loci for schizophrenia.

PMID 30285260 2019 Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect.

PMID 29503163 2018 Five novel loci associated with antipsychotic treatment response in patients with schizophrenia: a genome-wide association study.

PMID 31268507 2019 Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study.

PMID 28540026 2017 Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia.

PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

PMID 25056061 2014 Biological insights from 108 schizophrenia-associated genetic loci.

PMID 29483656 2018 Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.

PMID 31374203 2019 Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways.

rs9878978 in CNTN4 gene and Systolic Pressure PMID 25189868 2015 Gene-smoking interactions identify several novel blood pressure loci in the Framingham Heart Study.

rs7652782 in CNTN4 gene and Uric acid measurement (procedure) PMID 24379826 2013 Genome-wide association analysis confirms and extends the association of SLC2A9 with serum uric acid levels to Mexican Americans.

rs975334 in CNTN4 gene and gallbladder neoplasm PMID 22318345 2012 A genome-wide association study identifies SNP in DCC is associated with gallbladder cancer in the Japanese population.

rs34877519 in CNTN4 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.