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)

Properties

SIZE: MW = 113 kD entity length = 1026 aa COMPARTMENT: plasma membrane CELL-REGION: apical region CELL: epithelial cell MOTIF: signal sequence {1-18} immunoglobulin superfamily domain {32-117} MOTIF: cysteine residue {C50} MODIFICATION: cysteine residue {C100} N-glycosylation site {N65} N-glycosylation site {N90} cysteine residue {C100} MODIFICATION: cysteine residue {C50} immunoglobulin superfamily domain {122-207} MOTIF: cysteine residue {C144} MODIFICATION: cysteine residue {C194} N-glycosylation site {N191} cysteine residue {C194} MODIFICATION: cysteine residue {C144} immunoglobulin superfamily domain {225-311} MOTIF: cysteine residue {C247} MODIFICATION: cysteine residue {C295} cysteine residue {C295} MODIFICATION: cysteine residue {C247} immunoglobulin superfamily domain {316-400} MOTIF: cysteine residue {C337} MODIFICATION: cysteine residue {C384} N-glycosylation site {N370} N-glycosylation site {N375} cysteine residue {C384} MODIFICATION: cysteine residue {C337} immunoglobulin superfamily domain {406-493} MOTIF: cysteine residue {C429} MODIFICATION: cysteine residue {C477} N-glycosylation site {N466} cysteine residue {C477} MODIFICATION: cysteine residue {C429} immunoglobulin superfamily domain {497-586} MOTIF: cysteine residue {C519} MODIFICATION: cysteine residue {C576} cysteine residue {C576} MODIFICATION: cysteine residue {C519} fibronectin type III domain or F3 module {599-697} fibronectin type III domain or F3 module {702-799} MOTIF: N-glycosylation site {N705} N-glycosylation site {N764} fibronectin type III domain or F3 module {804-899} MOTIF: N-glycosylation site {N858} N-glycosylation site {N893} fibronectin type III domain or F3 module {901-995} MOTIF: N-glycosylation site {N911} N-glycosylation site {N929} N-glycosylation site {N954} glycosyl phosphatidylinositol [GPI] membrane anchor {N1000}

Database Correlations

OMIM 607280 UniProt Q8IWV2 PFAM correlations Entrez Gene 152330 Kegg hsa:152330

References

UniProt :accession Q8IWV2