Species

Mus musculus

Symbol

Cntnap2

Name

contactin associated protein-like 2

Synonyms

5430425M22Rik
Caspr2

Biotype

protein coding gene

Automated Description

Enables PDZ domain binding activity. Involved in several processes, including chemical synaptic transmission; nervous system development; and synapse organization. Acts upstream of or within glutamatergic neuron differentiation and neuron projection development. Located in excitatory synapse; juxtaparanode region of axon; and membrane. Part of voltage-gated potassium channel complex. Is active in several cellular components, including axon initial segment; cerebellar granule cell to Purkinje cell synapse; and presynaptic active zone membrane. Is expressed in central nervous system; neural retina; and sciatic nerve. Used to study autism spectrum disorder and cortical dysplasia-focal epilepsy syndrome. Human ortholog(s) of this gene implicated in several diseases, including autism spectrum disorder (multiple); communication disorder (multiple); cortical dysplasia-focal epilepsy syndrome; major depressive disorder; and social phobia. Orthologous to human CNTNAP2 (contactin associated protein 2).

MGI Description

PHENOTYPE: Inactivation of this gene results in molecular abnormalities within the central nervous system, but homozygous mutant mice show no overt phenotype. [provided by MGI curators]

Cross References

Additional Information

Literature

Orthology

Gene tree: PANTHER:PTHR15036

No data available

Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse

Paralogy

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources

MGI

Other Sources

Phenotype Term	Annotation details	References
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Disease Associations

Cell color indicative of annotation volume

Gene	Association	Disease Qualifier	Disease	Evidence	Source	Based On	References
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Alleles and Variants

Allele/Variant Symbol	Allele Synonyms	Category	Variant	Variant type	Molecular consequence	Has Disease Annotations	Has Phenotype Annotations
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Download all Alleles/Variants for all genes of the species

Transgenic Alleles

Species (carrying the transgene)	Allele symbol	Transgenic construct	Expressed components	Knock-down targets	Regulatory regions	Has Disease Annotations	Has Phenotype Annotations
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Models

Model name	Experimental condition	Associated Human Diseases	Associated Phenotypes	Modifier	Source
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Sequence Feature Viewer

Genome location

Chr6:45036995...47278330 + (2,241.34 kb)

Assembly version

GRCm39

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Sequence Details

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Expression

Primary Sources

Other Sources

Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

Molecular Interactions

Cntnap2 molecule type	Interactor gene	Interactor species	Interactor molecule type	Detection methods	Source	Reference
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Genetic Interactions

Cntnap2 role	Cntnap2 genetic perturbation	Interactor gene	Interactor species	Interactor role	Interactor genetic perturbation	Interaction type	Phenotype or trait	Source	Reference
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