CNTN4

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Contactin 4
Identifiers
Symbols CNTN4 ; AXCAM; BIG-2
External IDs OMIM607280 HomoloGene14257 GeneCards: CNTN4 Gene
Orthologs
Species Human Mouse
Entrez 152330 269784
Ensembl ENSG00000144619 ENSMUSG00000064293
UniProt Q8IWV2 Q69Z26
RefSeq (mRNA) NM_001206955 NM_001109749
RefSeq (protein) NP_001193884 NP_001103219
Location (UCSC) Chr 3:
2.14 – 3.1 Mb
Chr 6:
105.68 – 106.7 Mb
PubMed search [1] [2]

Contactin-4 is a protein that in humans is encoded by the CNTN4 gene.[1][2][3]

The protein encoded by this gene is a member of the immunoglobulin superfamily. It is a glycosylphosphatidylinositol (GPI)-anchored neuronal membrane protein that functions as a cell adhesion molecule. It may play a role in the formation of axon connections in the developing nervous system. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.[3]

Genomics[edit]

The gene is located on the short arm of chromosome 3 (3p26.3). It is a single copy gene within the Watson (plus) strand, 957,399 bases in length and encodes a protein of 1026 amino acids (molecular weight 113.454 kDa)

Clinical relevance[edit]

Abnormal expression of this gene has been implicated in some cases of autism.[4] It has also been associated with cerebellar degeneration in spinocerebellar ataxia type 16.

References[edit]

  1. ^ Yoshihara Y, Kawasaki M, Tamada A, Nagata S, Kagamiyama H, Mori K (Mar 1996). "Overlapping and differential expression of BIG-2, BIG-1, TAG-1, and F3: four members of an axon-associated cell adhesion molecule subgroup of the immunoglobulin superfamily". J Neurobiol 28 (1): 51–69. doi:10.1002/neu.480280106. PMID 8586965. 
  2. ^ Zeng L, Zhang C, Xu J, Ye X, Wu Q, Dai J, Ji C, Gu S, Xie Y, Mao Y (Aug 2002). "A novel splice variant of the cell adhesion molecule contactin 4 ( CNTN4) is mainly expressed in human brain". J Hum Genet 47 (9): 497–9. doi:10.1007/s100380200073. PMID 12202991. 
  3. ^ a b "Entrez Gene: CNTN4 contactin 4". 
  4. ^ http://www.newsdaily.com/stories/n18220544-autism-genes/

Further reading[edit]