Contactin 3

Alternative Names

  • CNTN3
  • Plasmacytoma-Associated Neuronal Glycoprotein
  • PANG
  • BIG1, Rat, Homolog of
  • BIG1
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OMIM Number

601325

Gene Map Locus
3p12.3

Description

CNTN3 encodes Contactin 3, a member of the immunoglobulin/fibronectin superfamily of adhesion molecules. This protein mediates cell surface interactions and is believed to play a role in nervous system development. The exact function of CNTN3 is yet to be fully characterized. However, its paralogs contactin 1 and contactin 2 are known to be involved in neural cell migration, axon guidance and myelin subdomain organization.

Molecular Genetics

The CNTN3 gene, located on the short arm of chromosome 3, spans a length of 351.8 kb of DNA. Its coding sequence is spread across 27 exons and it encodes a 112.8 kDa protein product consisting of 1028 amino acids. The gene is mainly expressed in the cerebellum, amygdala, frontal lobe and occipital lobe of the brain.   

Epidemiology in the Arab World

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Other Reports

Saudi Arabia

Monies et al. (2017) studied the findings of 1000 diagnostic panels and exomes carried out at a next generation sequencing lab in Saudi Arabia. One patient, a 12-year-old female, presented with microcephaly, intellectual disability, learning disability, severe ADHD and mild motor delay. Her parents were consanguineous and she had a family history of the phenotype. WES carried out on the patient and both parents helped identify a homozygous mutation (c.2309C>T, p.P770L) in exon 17 of the patient’s CNTN3 gene. This gene mutation was considered a candidate for pathogenicity due to several reasons: it was a novel variant and was predicted to be deleterious; and the mouse orthologue of the gene is seen to be expressed in the mouse subventricular zone proliferative cells, which is consistent with a potential role in the primary microcephaly phenotype. The authors noted that further studies are required to independently confirm this association.      

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