Contactin 4

Contactin-4 is a protein that in humans is encoded by the CNTN4 gene.[5][6][7]

CNTN4
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCNTN4, AXCAM, BIG-2, contactin 4
External IDsOMIM: 607280 MGI: 1095737 HomoloGene: 14257 GeneCards: CNTN4
Gene location (Human)
Chr.Chromosome 3 (human)[1]
Band3p26.3-p26.2Start2,098,813 bp[1]
End3,057,959 bp[1]
Orthologs
SpeciesHumanMouse
Entrez

152330

269784

Ensembl

ENSG00000144619

ENSMUSG00000064293

UniProt

Q8IWV2

Q69Z26

RefSeq (mRNA)

NM_001109749
NM_001109751
NM_173004
NM_001364565
NM_001364566

RefSeq (protein)

NP_001193884
NP_001193885
NP_783200
NP_783302
NP_001337024

NP_001103219
NP_001103221
NP_766592
NP_001351494
NP_001351495

Location (UCSC)Chr 3: 2.1 – 3.06 MbChr 6: 105.68 – 106.7 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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.[7]

Genomics

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

Abnormal expression of this gene has been implicated in some cases of autism.[8] It has also been associated with cerebellar degeneration in spinocerebellar ataxia type 16.

References

  1. GRCh38: Ensembl release 89: ENSG00000144619 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000064293 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 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.
  6. 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.
  7. "Entrez Gene: CNTN4 contactin 4".
  8. http://www.newsdaily.com/stories/n18220544-autism-genes/

Further reading


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