Description: Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA. (from RefSeq NM_175607) RefSeq Summary (NM_175607): This gene encodes a member of the contactin family of immunoglobulins. Contactins are axon-associated cell adhesion molecules that function in neuronal network formation and plasticity. The encoded protein is a glycosylphosphatidylinositol-anchored neuronal membrane protein that may play a role in the formation of axon connections in the developing nervous system. Deletion or mutation of this gene may play a role in 3p deletion syndrome and autism spectrum disorders. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2011]. Gencode Transcript: ENST00000418658.6 Gencode Gene: ENSG00000144619.15 Transcript (Including UTRs) Position: hg38 chr3:2,098,866-3,057,959 Size: 959,094 Total Exon Count: 25 Strand: + Coding Region Position: hg38 chr3:2,571,504-3,056,220 Size: 484,717 Coding Exon Count: 22
ID:CNTN4_HUMAN DESCRIPTION: RecName: Full=Contactin-4; AltName: Full=Brain-derived immunoglobulin superfamily protein 2; Short=BIG-2; Flags: Precursor; FUNCTION: Contactins mediate cell surface interactions during nervous system development. Has some neurite outgrowth-promoting activity. May be involved in synaptogenesis. SUBCELLULAR LOCATION: Cell membrane; Lipid-anchor, GPI-anchor. Secreted (By similarity). TISSUE SPECIFICITY: Mainly expressed in brain. Highly expressed in cerebellum and weakly expressed in corpus callosum, caudate nucleus, amygdala and spinal cord. Also expressed in testis, pancreas, thyroid, uterus, small intestine and kidney. Not expressed in skeletal muscle. Isoform 2 is weakly expressed in cerebral cortex. INDUCTION: By retinoic acid, suggesting that it may act in response to differentiating agents. DISEASE: Note=A chromosomal aberration involving CNTN4 has been found in a boy with characteristic physical features of 3p deletion syndrome (3PDS). Translocation t(3;10)(p26;q26). 3PDS is a rare contiguous gene disorder involving the loss of the telomeric portion of the short arm of chromosome 3 and characterized by developmental delay, growth retardation, and dysmorphic features. SIMILARITY: Belongs to the immunoglobulin superfamily. Contactin family. SIMILARITY: Contains 4 fibronectin type-III domains. SIMILARITY: Contains 6 Ig-like C2-type (immunoglobulin-like) domains.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Pfam Domains: PF00041 - Fibronectin type III domain PF07679 - Immunoglobulin I-set domain
ModBase Predicted Comparative 3D Structure on Q8IWV2
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.