background:
Contactin 4 is a 1,026 amino acid protein encoded by the human gene CNTN4. Contactin 4 belongs to the immunoglobulin superfamily and is a member of the Contactin family. Contactin 4 contains four fibronectin type-3 domains, six Ig-like C2-type domains, and has three isoforms (1,2,3). Defects in the CNTN4 gene are a cause of 3p deletion syndrome (3PDS). 3PDS is a rare contiguous gene disorder involving the loss of the telomeric portion of the short arm of chromosome 3 and is characterized by developmental delay, growth retardation, and dysmorphic features. Contactin 4 is primarily expressed in brain tissue. Highest expression has been found to be in the cerebellum, with lowest levels found in corpus callosum, caudate nucleus, amygdala and spinal cord. Some expression is also found in testis, pancreas, thyroid, uterus, small intestine and kidney. Contactin 4 is not believed to be expressed in skeletal muscle. Isoform 2 is weakly expressed in cerebral cortex.
Function:
Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity. May be involved in synaptogenesis.
Subcellular Location:
Cell membrane. Secreted.
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. Isoform 2 is weakly expressed in cerebral cortex.
DISEASE:
Note=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.
Similarity:
Belongs to the immunoglobulin superfamily. Contactin family.
Contains 4 fibronectin type-III domains.
Contains 6 Ig-like C2-type (immunoglobulin-like) domains.
Database links:
Entrez Gene: 152330 Human
Entrez Gene: 269784 Mouse
Entrez Gene: 116658 Rat
Omim: 607280 Human
SwissProt: Q8IWV2 Human
SwissProt: Q69Z26 Mouse
SwissProt: Q62845 Rat
Unigene: 298705 Human
Unigene: 626418 Human
Unigene: 321683 Mouse
Unigene: 10117 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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