Contactin 4

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

CNTN4
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 3JXA, 3KLD
Identifiers
Aliases	CNTN4, AXCAM, BIG-2, contactin 4
External IDs	OMIM: 607280; MGI: 1095737; HomoloGene: 14257; GeneCards: CNTN4; OMA:CNTN4 - orthologs
Gene location (Human) Chr. Chromosome 3 (human)[1] Band 3p26.3-p26.2 Start 2,098,813 bp[1] End 3,057,959 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6|6 E1 Start 105,677,660 bp[2] End 106,699,310 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in sperm buccal mucosa cell lateral nuclear group of thalamus pancreatic epithelial cell saphenous vein thoracic aorta ascending aorta Descending thoracic aorta popliteal artery tibial arteries Top expressed in olfactory epithelium medial dorsal nucleus medial geniculate nucleus lateral geniculate nucleus neural layer of retina supraoptic nucleus cerebellar cortex cerebellar vermis superior frontal gyrus secondary oocyte More reference expression data BioGPS n/a
Gene ontology Molecular function cell-cell adhesion mediator activity Cellular component anchored component of membrane axon membrane extracellular region plasma membrane Biological process neuron cell-cell adhesion cell adhesion axonal fasciculation negative regulation of neuron differentiation axonogenesis nervous system development regulation of synaptic plasticity axon guidance brain development neuron projection development homophilic cell adhesion via plasma membrane adhesion molecules dendrite self-avoidance Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 152330 269784 Ensembl ENSG00000144619 ENSMUSG00000064293 UniProt Q8IWV2 Q69Z26 RefSeq (mRNA) NM_001206955 NM_001206956 NM_175607 NM_175612 NM_175613 NM_001350095 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 Mb Chr 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.