Contactin 4

Protein found in humans From Wikipedia, the free encyclopedia

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

Quick facts CNTN4, Available structures ...
CNTN4
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesCNTN4, AXCAM, BIG-2, contactin 4
External IDsOMIM: 607280; MGI: 1095737; HomoloGene: 14257; GeneCards: CNTN4; OMA:CNTN4 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
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
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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

Further reading

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