Version 5.4
Homo sapiens Gene: CNTNAP2
Summary
InnateDB Gene IDBG-46789.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol CNTNAP2
Gene Name contactin associated protein-like 2
Synonyms AUTS15; CASPR2; CDFE; NRXN4; PTHSL1
Species Homo sapiens
Ensembl Gene ENSG00000174469
Encoded Proteins
IDBP-46793
contactin associated protein-like 2
IDBP-387185
contactin associated protein-like 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary 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 mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2 (FOXP2), a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and mental retardation.[provided by RefSeq, Mar 2010]
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 mediates interactions between neurons and glia during nervous system development and is also involved in localization of potassium channels within differentiating axons. This gene encompasses almost 1.5%% of chromosome 7 and is one of the largest genes in the human genome. It is directly bound and regulated by forkhead box protein P2 (FOXP2), a transcription factor related to speech and language development. This gene has been implicated in multiple neurodevelopmental disorders, including Gilles de la Tourette syndrome, schizophrenia, epilepsy, autism, ADHD and mental retardation.[provided by RefSeq, Mar 2010]
Gene Information
Type Protein coding
Genomic Location Chromosome 7:146116361-148420998
Strand Forward strand
Band q35
Transcripts
ENST00000361727 ENSP00000354778
ENST00000455301 ENSP00000392208
ENST00000463592
ENST00000602734
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 11 experimentally validated interaction(s) in this database.
Experimentally validated
Total 11 [view]
Protein-Protein 10 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0019899 enzyme binding
Biological Process
GO:0007155 cell adhesion
GO:0007420 brain development
GO:0007612 learning
GO:0008038 neuron recognition
GO:0019226 transmission of nerve impulse
GO:0021756 striatum development
GO:0021761 limbic system development
GO:0021794 thalamus development
GO:0021987 cerebral cortex development
GO:0030534 adult behavior
GO:0031175 neuron projection development
GO:0034613 cellular protein localization
GO:0035176 social behavior
GO:0045163 clustering of voltage-gated potassium channels
GO:0071109 superior temporal gyrus development
GO:0071205 protein localization to juxtaparanode region of axon
GO:0071625 vocalization behavior
Cellular Component
GO:0005769 early endosome
GO:0005794 Golgi apparatus
GO:0008076 voltage-gated potassium channel complex
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0030424 axon
GO:0030425 dendrite
GO:0030673 axolemma
GO:0043025 neuronal cell body
GO:0043204 perikaryon
GO:0044224 juxtaparanode region of axon
Orthologs
Species
Mus musculus
Gene ID
Gene Order
ENSMUSG00000039419
View Gene Order
Pathways
NETPATH
REACTOME
KEGG
hsa04514
Cell adhesion molecules (CAMs) pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene
RefSeq NM_014141 XM_006715919
HUGO
OMIM
CCDS CCDS5889
HPRD
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca