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

Gene: CNTN4-AS1

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rs163574 in CNTN4;CNTN4-AS1 gene and Blood basophil count (lab test) PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 27863252 2016 The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.