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Cntnap2 - contactin associated protein-like 2 Gene

Also Known as Caspr2; mKIAA0868; 5430425M22Rik

Species: Mus musculus

Gene Type: protein coding

Gene ID: 66797

Summary

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; limbic system development; and neuron projection development. Located in several cellular components, including cerebellar granule cell to Purkinje cell synapse; main axon; and presynaptic active zone membrane. Is integral component of membrane. Part of voltage-gated Potassium Channel complex. Is active in dendrite and excitatory synapse. Is expressed in central nervous system and neural retina. Used to study autism spectrum disorder and cortical dysplasia-focal epilepsy syndrome. Human ortholog(s) of this gene implicated in several diseases, including Pitt-Hopkins syndrome; autism spectrum disorder (multiple); communication disorder (multiple); cortical dysplasia-focal epilepsy syndrome; and social phobia. Orthologous to human CNTNAP2 (contactin associated protein 2). [provided by Alliance of Genome Resources, Apr 2022]

Cntnap2 Products (2)

mRNA	Protein	Name
NM_001004357.2	NP_001004357.2	contactin-associated protein-like 2 isoform a precursor
NM_025771.3	NP_080047.1	contactin-associated protein-like 2 isoform b

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables PDZ domain binding	IPI IPI: Inferred from physical interaction	25977097	MGI
enables protein binding	IPI IPI: Inferred from physical interaction	20962216	MGI

Biological Process GO Annotation	Evidence	References	Source
involved in ERK1 and ERK2 cascade	IMP IMP: Inferred from mutant phenotype	32675284	MGI
involved in TOR signaling	IMP IMP: Inferred from mutant phenotype	30816216	MGI
involved in action potential initiation	IMP IMP: Inferred from mutant phenotype	31141683	MGI
involved in associative learning	IMP IMP: Inferred from mutant phenotype	26158416	MGI
involved in axonogenesis	IMP IMP: Inferred from mutant phenotype	28370195	MGI
involved in behavioral response to pain	IGI IGI: Inferred from genetic interaction	31874168	MGI
involved in cell morphogenesis	IMP IMP: Inferred from mutant phenotype	32675284	MGI
involved in cell population proliferation	IMP IMP: Inferred from mutant phenotype	29028946	MGI
involved in central nervous system myelination	IMP IMP: Inferred from mutant phenotype	29300891	MGI
involved in cerebellar Purkinje cell layer morphogenesis	IMP IMP: Inferred from mutant phenotype	32675284	MGI
involved in cerebellum development	IMP IMP: Inferred from mutant phenotype	32675284	MGI
involved in chemical synaptic transmission	IMP IMP: Inferred from mutant phenotype	23074245	MGI
involved in circadian sleep/wake cycle	IMP IMP: Inferred from mutant phenotype	32889171	MGI
involved in clustering of voltage-gated potassium channels	IMP IMP: Inferred from mutant phenotype	12963709	MGI
involved in dendrite arborization	IMP IMP: Inferred from mutant phenotype	23074245	MGI
involved in dendritic spine development	IMP IMP: Inferred from mutant phenotype	23074245	MGI
involved in dendritic spine maintenance	IMP IMP: Inferred from mutant phenotype	31141683	MGI
involved in dendritic spine organization	IMP IMP: Inferred from mutant phenotype	31141683	MGI
involved in embryonic brain development	IMP IMP: Inferred from mutant phenotype	32879327	MGI
involved in excitatory chemical synaptic transmission	IMP IMP: Inferred from mutant phenotype	30679017	MGI
involved in excitatory postsynaptic potential	IMP IMP: Inferred from mutant phenotype	29300891	MGI
involved in excitatory synapse assembly	IMP IMP: Inferred from mutant phenotype	23074245	MGI
involved in fat cell differentiation	IMP IMP: Inferred from mutant phenotype	22752552	MGI
involved in gene expression	IMP IMP: Inferred from mutant phenotype	29429934	MGI
involved in glial cell proliferation	IMP IMP: Inferred from mutant phenotype	27785461	MGI
acts upstream of or within glutamatergic neuron differentiation	IMP IMP: Inferred from mutant phenotype	25918374	MGI
involved in grooming behavior	IMP IMP: Inferred from mutant phenotype	29300891	MGI
involved in in utero embryonic development	IMP IMP: Inferred from mutant phenotype	32879327	MGI
involved in inflammatory response	IGI IGI: Inferred from genetic interaction	31874168	MGI
involved in inhibitory chemical synaptic transmission	IMP IMP: Inferred from mutant phenotype	26511255	MGI
involved in inhibitory synapse assembly	IMP IMP: Inferred from mutant phenotype	23074245	MGI
involved in intracellular signal transduction	IMP IMP: Inferred from mutant phenotype	32675284	MGI
involved in learning	IMP IMP: Inferred from mutant phenotype	26273832	MGI
involved in limbic system development	IEP IEP: Inferred from expression pattern	18179895	MGI
involved in locomotor rhythm	IMP IMP: Inferred from mutant phenotype	32889171	MGI
involved in locomotory behavior	IMP IMP: Inferred from mutant phenotype	26273832	MGI
involved in maintenance of synapse structure	IMP IMP: Inferred from mutant phenotype	25951243	MGI
involved in mitochondrion organization	IMP IMP: Inferred from mutant phenotype	28370195	MGI
involved in motor behavior	IMP IMP: Inferred from mutant phenotype	26273832	MGI
involved in multicellular organism growth	IMP IMP: Inferred from mutant phenotype	26273832	MGI
involved in myelination	IGI IGI: Inferred from genetic interaction	31641127	MGI
involved in negative regulation of neuronal action potential	IMP IMP: Inferred from mutant phenotype	28768803	MGI
involved in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction	IMP IMP: Inferred from mutant phenotype	30816216	MGI
involved in negative regulation of synaptic transmission, GABAergic	IMP IMP: Inferred from mutant phenotype	28966979	MGI
involved in neural precursor cell proliferation	IMP IMP: Inferred from mutant phenotype	27785461	MGI
involved in neuromuscular junction development, skeletal muscle fiber	IMP IMP: Inferred from mutant phenotype	28370195	MGI
involved in neuromuscular process	IMP IMP: Inferred from mutant phenotype	28370195	MGI
involved in neuromuscular process controlling posture	IMP IMP: Inferred from mutant phenotype	26273832	MGI
acts upstream of or within neuron projection development	IGI IGI: Inferred from genetic interaction	19458237	MGI
involved in neuron projection morphogenesis	IMP IMP: Inferred from mutant phenotype	25378149	MGI
involved in neuronal action potential	IGI IGI: Inferred from genetic interaction	31874168	MGI
involved in neuronal action potential	IMP IMP: Inferred from mutant phenotype	29300891	MGI
involved in positive regulation of neuronal action potential	IMP IMP: Inferred from mutant phenotype	28768803	MGI
involved in postsynaptic density organization	IMP IMP: Inferred from mutant phenotype	28370195	MGI
involved in protein localization	IMP IMP: Inferred from mutant phenotype	22752552	MGI
acts upstream of or within protein localization to juxtaparanode region of axon	IMP IMP: Inferred from mutant phenotype	19109503	MGI
involved in protein localization to juxtaparanode region of axon	IMP IMP: Inferred from mutant phenotype	12963709	MGI
involved in regulation of postsynaptic membrane neurotransmitter receptor levels	IDA IDA: Inferred from direct assay	25918374	MGI
involved in regulation of postsynaptic membrane neurotransmitter receptor levels	IMP IMP: Inferred from mutant phenotype	25918374	MGI
involved in response to dietary excess	IMP IMP: Inferred from mutant phenotype	22752552	MGI
involved in response to heat	IGI IGI: Inferred from genetic interaction	31874168	MGI
involved in response to heat	IMP IMP: Inferred from mutant phenotype	29429934	MGI
involved in response to hormone	IMP IMP: Inferred from mutant phenotype	32889171	MGI
involved in response to interleukin-17	IMP IMP: Inferred from mutant phenotype	31853066	MGI
involved in response to light intensity	IMP IMP: Inferred from mutant phenotype	32889171	MGI
involved in response to mechanical stimulus	IMP IMP: Inferred from mutant phenotype	29429934	MGI
involved in response to metformin	IMP IMP: Inferred from mutant phenotype	31874168	MGI
involved in response to odorant	IMP IMP: Inferred from mutant phenotype	26273832	MGI
involved in response to pain	IMP IMP: Inferred from mutant phenotype	29429934	MGI
involved in response to xenobiotic stimulus	IMP IMP: Inferred from mutant phenotype	31391512	MGI
involved in rhythmic behavior	IMP IMP: Inferred from mutant phenotype	30816216	MGI
involved in social behavior	IMP IMP: Inferred from mutant phenotype	26273832	MGI
involved in transmission of nerve impulse	IMP IMP: Inferred from mutant phenotype	28184409	MGI
involved in vocalization behavior	IMP IMP: Inferred from mutant phenotype	26273832	MGI
involved in walking behavior	IMP IMP: Inferred from mutant phenotype	26273832	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in axon	IDA IDA: Inferred from direct assay	25918374	MGI
is active in axon initial segment	IDA IDA: Inferred from direct assay	18509034	MGI
is active in cerebellar granule cell to Purkinje cell synapse	IDA IDA: Inferred from direct assay	32675284	MGI
is active in dendrite	IDA IDA: Inferred from direct assay	25918374	MGI
is active in excitatory synapse	IDA IDA: Inferred from direct assay	25918374	MGI
located in excitatory synapse	IDA IDA: Inferred from direct assay	25918374	MGI
located in excitatory synapse	IMP IMP: Inferred from mutant phenotype	25918374	MGI
is active in glutamatergic synapse	IDA IDA: Inferred from direct assay	25918374	MGI
is active in glutamatergic synapse	IMP IMP: Inferred from mutant phenotype	25918374	MGI
located in juxtaparanode region of axon	IDA IDA: Inferred from direct assay	11567047	MGI
located in membrane	IDA IDA: Inferred from direct assay	11567047	MGI
is active in neuron projection	IMP IMP: Inferred from mutant phenotype	25918374	MGI
is active in neuron spine	IDA IDA: Inferred from direct assay	25918374	MGI
is active in neuronal cell body	IDA IDA: Inferred from direct assay	22133810	MGI
is active in plasma membrane raft	IDA IDA: Inferred from direct assay	25707359	MGI
is active in postsynapse	IDA IDA: Inferred from direct assay	32675284	MGI
is active in postsynapse	IMP IMP: Inferred from mutant phenotype	32675284	MGI
is active in presynapse	IDA IDA: Inferred from direct assay	32675284	MGI
is active in presynapse	IMP IMP: Inferred from mutant phenotype	32675284	MGI
is active in presynaptic active zone membrane	IDA IDA: Inferred from direct assay	25707359	MGI
is active in synapse	IDA IDA: Inferred from direct assay	25977097	MGI
is active in synapse	IPI IPI: Inferred from physical interaction	32675284	MGI
part of voltage-gated potassium channel complex	IDA IDA: Inferred from direct assay	11567047	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
contactin-associated protein-like 2	cell recognition molecule Caspr2

Recombinant Cntnap2 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75604	CASPR2 Protein, Mouse (HEK293, His)	NP_001004357.2 (A28-S1262)	≥ 95%, as determined by reducing SDS-PAGE.

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02933	CNTNAP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19088	Cntnap2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25578	Cntnap2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	Cntnap2	NCBI	NCBI:26047