contactin-4; brain-derived immunoglobulin superfamily protein 2; BIG-2 (CNTN4)

Function

• contactins mediate cell surface interactions during nervous system development.
• has some neurite outgrowth-promoting activity
• role in synaptogenesis (putative)
• interacts with PTPRG

Structure

• belongs to the immunoglobulin superfamily, contactin family
• contains 4 fibronectin F3 modules
• contains 6 Ig-like C2-type domains

Compartment

cell membrane, lipid-anchor, GPI-anchor

Alternative splicing

named isoforms=4

Expression

• mainly expressed in brain
• expressed in cerebellum > corpus callosum, caudate nucleus, amygdala, spinal cord
• expressed in testis, pancreas, thyroid, uterus, small intestine, kidney
• not expressed in skeletal muscle
• isoform 2 is expressed in cerebral cortex
• induction by retinoic acid

Pathology

• defects in CNTN4 are a cause of 3p deletion syndrome, translocation t(3;10)(p26;q26)

More general terms

• contactin

Database

• Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=152330
• Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:152330
• OMIM: https://mirror.omim.org/entry/607280
• UniProt: http://www.uniprot.org/uniprot/Q8IWV2.html