protein localization to juxtaparanode region of axon
neuron projection morphogenesis
Sources:Amigo / QuickGO
Orthologs
Species
Human
Mouse
Entrez
26047
66797
Ensembl
ENSG00000174469 ENSG00000278728
ENSMUSG00000039419
UniProt
Q9UHC6
Q9CPW0
RefSeq (mRNA)
NM_014141
NM_001004357 NM_025771
RefSeq (protein)
NP_054860
NP_001004357 NP_080047
Location (UCSC)
Chr 7: 146.12 – 148.42 Mb
Chr 6: 45.04 – 47.28 Mb
PubMed search
[3]
[4]
Wikidata
View/Edit Human
View/Edit Mouse
Contactin-associated protein-like 2 is a protein that in humans is encoded by the CNTNAP2 gene.[5][6][7] Since the most recent reference human genome GRCh38, CNTNAP2 is the longest gene in the human genome [8]
This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, thrombospondin N-terminal-like domains and a putative PDZ binding site. This protein is localized at the juxtaparanodes of myelinated axons and associated with potassium channels. It may play a role in the local differentiation of the axon into distinct functional subdomains. This gene encompasses almost 1.6% of chromosome 7 and is one of the largest genes in the human genome.[9] It may represent a positional candidate gene for the DFNB13 form of nonsyndromic deafness.[7]
^ abcGRCm38: Ensembl release 89: ENSMUSG00000039419 – Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Poliak S, Gollan L, Martinez R, Custer A, Einheber S, Salzer JL, Trimmer JS, Shrager P, Peles E (December 1999). "Caspr2, a new member of the neurexin superfamily, is localized at the juxtaparanodes of myelinated axons and associates with K+ channels". Neuron. 24 (4): 1037–47. doi:10.1016/S0896-6273(00)81049-1. PMID 10624965. S2CID 12444497.
^Nagase T, Ishikawa K, Suyama M, Kikuno R, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O (December 1998). "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Research. 5 (6): 355–64. doi:10.1093/dnares/5.6.355. PMID 10048485.
^Ashley, Euan A. (16 August 2016). "Towards precision medicine". Nature Reviews Genetics. 17 (9): 507–522. doi:10.1038/nrg.2016.86. PMID 27528417. S2CID 2609065.
^Helmrich A, Ballarino M, Tora L (December 2011). "Collisions between replication and transcription complexes cause common fragile site instability at the longest human genes" (PDF). Molecular Cell. 44 (6): 966–77. doi:10.1016/j.molcel.2011.10.013. PMID 22195969.
protein that in humans is encoded by the CNTNAP2 gene. Since the most recent reference human genome GRCh38, CNTNAP2 is the longest gene in the human genome...
(January 2008). "Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene". American Journal of Human Genetics....
known to regulate CNTNAP2, CTBP1, SRPX2 and SCN3A. FOXP2 downregulates CNTNAP2, a member of the neurexin family found in neurons. CNTNAP2 is associated with...
only a small number of cases in single families (the SLITRK1, HDC, and CNTNAP2 genes). Psychosocial or other non-genetic factors—while not causing Tourette's—can...
been shown to cause major issues to overall linguistic intelligence. The CNTNAP2 gene is believed to affect language development and performance, and mutations...
and subsequent functional characterization of the autism-related gene CNTNAP2 at UCLA. Abrahams is an assistant professor at the Albert Einstein College...
based on abnormalities in this and other neuropeptides. A mutation in the Cntnap2 gene, which has been linked to ASD in human, results in decreased oxytocin...
can be several hundred thousands bases long), for example genes RBFOX1, CNTNAP2, PTPRD and DLG2. Senapathy provided a plausible answer to these questions...
frontal lobe circuits is associated with variation in the autism risk gene CNTNAP2." The study used a combination of genetics and imaging phenotypes to determine...
only a small number of cases in single families (the SLITRK1, HDC, and CNTNAP2 genes). In some cases, tics may not be inherited; these cases are identified...
the gene CNTNAP2 is specifically enriched for in the prefrontal cortex. The mouse homolog of CNTNAP2 is not expressed in the mouse brain. CNTNAP2 has been...
target for therapeutic intervention. CNTN2 has been shown to interact with CNTNAP2 and NFYB. GRCh38: Ensembl release 89: ENSG00000184144 – Ensembl, May 2017...
in human and mouse models. Vernes also showed the relationship between CNTNAP2 and FOXP2, indicating that the pair can cause various language-related...
can be several hundred thousands bases long), for example genes RBFOX1, CNTNAP2, PTPRD and DLG2. Dr. Senapathy has provided a plausible answer to these...
Global Information
