Recombinant Human Contactin-4 (CNTN4), Truncated

Uniprot Id

Q8IWV2

Target Species

Human

Target Name

CNTN4

Target Full Name

Contactin-4

Target Function

Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity. May be involved in synaptogenesis.

Target Involvement

A chromosomal aberration involving CNTN4 has been found in a boy with characteristic physical features of 3p deletion syndrome (3PDS). Translocation t(3;10)(p26;q26). 3PDS is a rare contiguous gene disorder involving the loss of the telomeric portion of the short arm of chromosome 3 and characterized by developmental delay, growth retardation, and dysmorphic features.

Target Subcellular Location

Cell membrane; Lipid-anchor, GPI-anchor. Secreted.

Target Protein Families

Immunoglobulin superfamily, Contactin family

Target Tissue Specificity

Mainly expressed in brain. Highly expressed in cerebellum and weakly expressed in corpus callosum, caudate nucleus, amygdala and spinal cord. Also expressed in testis, pancreas, thyroid, uterus, small intestine and kidney. Not expressed in skeletal muscle

Target Synonyms

AXCAM; Axonal associated cell adhesion molecule; BIG 2; BIG-2; Brain derived immunoglobulin superfamily protein 2; Brain-derived immunoglobulin superfamily protein 2; Cntn4; CNTN4_HUMAN; CNTN4A; contactin 4; Contactin-4; Neural cell adhesion protein BIG 2; SCA16

Target Background

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.