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Cntnap2 contactin associated protein-like 2 [ Mus musculus (house mouse) ]

Gene ID: 66797, updated on 19-Jun-2024

Summary

Official Symbol
Cntnap2provided by MGI
Official Full Name
contactin associated protein-like 2provided by MGI
Primary source
MGI:MGI:1914047
See related
Ensembl:ENSMUSG00000039419 AllianceGenome:MGI:1914047
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Caspr2; mKIAA0868; 5430425M22Rik
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]
Expression
Biased expression in CNS E18 (RPKM 4.2), whole brain E14.5 (RPKM 3.7) and 7 other tissues See more
Orthologs
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Genomic context

See Cntnap2 in Genome Data Viewer
Location:
6 B2.2- B2.3; 6 21.81 cM
Exon count:
26
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (45036995..47278330)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (45060061..47301393)

Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_15742 Neighboring gene STARR-seq mESC enhancer starr_15743 Neighboring gene STARR-seq mESC enhancer starr_15744 Neighboring gene STARR-seq mESC enhancer starr_15745 Neighboring gene predicted gene, 22939 Neighboring gene STARR-seq mESC enhancer starr_15746 Neighboring gene STARR-seq mESC enhancer starr_15749 Neighboring gene predicted gene, 35216 Neighboring gene STARR-seq mESC enhancer starr_15750 Neighboring gene STARR-seq mESC enhancer starr_15751 Neighboring gene STARR-seq mESC enhancer starr_15752 Neighboring gene STARR-seq mESC enhancer starr_15753 Neighboring gene STARR-seq mESC enhancer starr_15754 Neighboring gene STARR-seq mESC enhancer starr_15755 Neighboring gene STARR-seq mESC enhancer starr_15756 Neighboring gene crumbs homolog 1 pseudogene Neighboring gene STARR-seq mESC enhancer starr_15757 Neighboring gene STARR-seq mESC enhancer starr_15758 Neighboring gene STARR-seq mESC enhancer starr_15759 Neighboring gene STARR-seq mESC enhancer starr_15760 Neighboring gene STARR-seq mESC enhancer starr_15761 Neighboring gene STARR-seq mESC enhancer starr_15762 Neighboring gene predicted gene, 25161 Neighboring gene recombination signal binding protein for immunoglobulin kappa J region, pseudogene 3 Neighboring gene crumbs homolog 1 pseudogene Neighboring gene predicted gene, 35931 Neighboring gene predicted gene, 38801 Neighboring gene STARR-seq mESC enhancer starr_15772 Neighboring gene predicted gene, 35875 Neighboring gene STARR-seq mESC enhancer starr_15774 Neighboring gene cyclin I pseudogene Neighboring gene predicted gene, 53328 Neighboring gene STARR-seq mESC enhancer starr_15777 Neighboring gene predicted gene, 35280 Neighboring gene STARR-seq mESC enhancer starr_15778 Neighboring gene predicted gene, 53327 Neighboring gene TAR (HIV) RNA binding protein 2 pseudogene Neighboring gene cullin 1

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (8) 
  • Targeted (2)  1 citation

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables PDZ domain binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables enzyme binding ISO
Inferred from Sequence Orthology
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in ERK1 and ERK2 cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in TOR signaling IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in action potential initiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in adult behavior ISO
Inferred from Sequence Orthology
more info
 
involved_in associative learning IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in axonogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in behavioral response to pain IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in cell adhesion TAS
Traceable Author Statement
more info
PubMed 
involved_in cell morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cell population proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cell population proliferation ISO
Inferred from Sequence Orthology
more info
PubMed 
involved_in central nervous system myelination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cerebellar Purkinje cell layer morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in cerebellum development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in chemical synaptic transmission IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in circadian sleep/wake cycle IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in clustering of voltage-gated potassium channels IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in dendrite arborization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in dendritic spine development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in dendritic spine maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in dendritic spine organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in embryonic brain development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in excitatory chemical synaptic transmission IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in excitatory postsynaptic potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in excitatory synapse assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in fat cell differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in gene expression IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in glial cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within glutamatergic neuron differentiation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in grooming behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in in utero embryonic development IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in inflammatory response IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in inhibitory chemical synaptic transmission IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in inhibitory synapse assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in intracellular signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in learning IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in learning ISO
Inferred from Sequence Orthology
more info
 
involved_in limbic system development IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in locomotor rhythm IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in locomotory behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in maintenance of synapse structure IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in mitochondrion organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in motor behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in multicellular organism growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in myelination IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in negative regulation of neuronal action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of synaptic transmission, GABAergic IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neural precursor cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neuromuscular junction development, skeletal muscle fiber IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neuromuscular process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neuromuscular process controlling posture IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within neuron projection development IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in neuron projection morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in neuron recognition TAS
Traceable Author Statement
more info
PubMed 
involved_in neuronal action potential IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in neuronal action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of gap junction assembly ISO
Inferred from Sequence Orthology
more info
 
involved_in positive regulation of neuronal action potential IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in postsynaptic density organization IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within protein localization to juxtaparanode region of axon IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein localization to juxtaparanode region of axon IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels IDA
Inferred from Direct Assay
more info
PubMed 
involved_in regulation of postsynaptic membrane neurotransmitter receptor levels IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to dietary excess IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to heat IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in response to heat IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to hormone IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to interleukin-17 IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to light intensity IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to mechanical stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to metformin IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to odorant IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to pain IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to xenobiotic stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in rhythmic behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in social behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in social behavior ISO
Inferred from Sequence Orthology
more info
 
involved_in transmission of nerve impulse IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vocal learning ISO
Inferred from Sequence Orthology
more info
 
involved_in vocalization behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in vocalization behavior ISO
Inferred from Sequence Orthology
more info
 
involved_in walking behavior IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus ISO
Inferred from Sequence Orthology
more info
 
located_in anchoring junction IEA
Inferred from Electronic Annotation
more info
 
located_in axolemma ISO
Inferred from Sequence Orthology
more info
 
located_in axon IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in axon initial segment IDA
Inferred from Direct Assay
more info
PubMed 
located_in cell projection IEA
Inferred from Electronic Annotation
more info
 
located_in cell surface ISO
Inferred from Sequence Orthology
more info
 
is_active_in cerebellar granule cell to Purkinje cell synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in dendrite IDA
Inferred from Direct Assay
more info
PubMed 
located_in early endosome ISO
Inferred from Sequence Orthology
more info
 
is_active_in excitatory synapse IDA
Inferred from Direct Assay
more info
PubMed 
located_in excitatory synapse IDA
Inferred from Direct Assay
more info
PubMed 
located_in excitatory synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in glutamatergic synapse IC
Inferred by Curator
more info
PubMed 
is_active_in glutamatergic synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in glutamatergic synapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
located_in juxtaparanode region of axon IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane ISO
Inferred from Sequence Orthology
more info
 
is_active_in neuron projection IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in neuron spine IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in neuronal cell body IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in plasma membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in postsynapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in postsynapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in presynapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in presynapse IMP
Inferred from Mutant Phenotype
more info
PubMed 
is_active_in presynaptic active zone membrane IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in synapse IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in synapse IPI
Inferred from Physical Interaction
more info
PubMed 
part_of voltage-gated potassium channel complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of voltage-gated potassium channel complex ISO
Inferred from Sequence Orthology
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001004357.2NP_001004357.2  contactin-associated protein-like 2 isoform a precursor

    Status: VALIDATED

    Source sequence(s)
    AC166176, AC166249, AK129232, BB628899, BC064467, BP766118, CB526509
    Consensus CDS
    CCDS39475.1
    UniProtKB/Swiss-Prot
    Q6P2K4, Q6ZQ31, Q9CPW0
    UniProtKB/TrEMBL
    E9QNF7
    Related
    ENSMUSP00000110288.2, ENSMUST00000114641.8
    Conserved Domains (9) summary
    smart00294
    Location:12831301
    4.1m; putative band 4.1 homologues' binding motif
    smart00231
    Location:34181
    FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain
    smart00282
    Location:10511187
    LamG; Laminin G domain
    cd00054
    Location:555590
    EGF_CA; Calcium-binding EGF-like domain, present in a large number of membrane-bound and extracellular (mostly animal) proteins. Many of these proteins require calcium for their biological function and calcium-binding sites have been found to be located at the ...
    cd00057
    Location:58180
    FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain; Cell surface-attached carbohydrate-binding domain, present in eukaryotes and assumed to have horizontally transferred to eubacterial genomes.
    cd00110
    Location:800943
    LamG; Laminin G domain; Laminin G-like domains are usually Ca++ mediated receptors that can have binding sites for steroids, beta1 integrins, heparin, sulfatides, fibulin-1, and alpha-dystroglycans. Proteins that contain LamG domains serve a variety of ...
    pfam00008
    Location:967992
    EGF; EGF-like domain
    pfam02210
    Location:216345
    Laminin_G_2; Laminin G domain
    cl02436
    Location:609632
    COLFI; Fibrillar collagen C-terminal domain
  2. NM_025771.3NP_080047.1  contactin-associated protein-like 2 isoform b

    See identical proteins and their annotated locations for NP_080047.1

    Status: VALIDATED

    Source sequence(s)
    AK017341, AK129232, BP766118, BY297045
    Consensus CDS
    CCDS20094.1
    UniProtKB/TrEMBL
    Q3SYI6
    Related
    ENSMUSP00000143528.2, ENSMUST00000199100.5
    Conserved Domains (1) summary
    smart00294
    Location:5977
    4.1m; putative band 4.1 homologues' binding motif

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000072.7 Reference GRCm39 C57BL/6J

    Range
    45036995..47278330
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006506483.5XP_006506546.1  contactin-associated protein-like 2 isoform X1

    Conserved Domains (3) summary
    smart00294
    Location:342360
    4.1m; putative band 4.1 homologues' binding motif
    smart00282
    Location:110246
    LamG; Laminin G domain
    pfam00008
    Location:2651
    EGF; EGF-like domain
  2. XM_030255547.2XP_030111407.1  contactin-associated protein-like 2 isoform X2

    UniProtKB/TrEMBL
    Q3SYI6
    Conserved Domains (1) summary
    smart00294
    Location:5977
    4.1m; putative band 4.1 homologues' binding motif