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

    Gene ID: 66797, updated on 9-Dec-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 and neuron projection development. Located in 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 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, Dec 2024]
    Expression
    Biased expression in CNS E18 (RPKM 4.2), whole brain E14.5 (RPKM 3.7) and 7 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    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 enzyme binding ISS
    Inferred from Sequence or Structural Similarity
    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 Golgi apparatus ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in axolemma ISO
    Inferred from Sequence Orthology
    more info
     
    located_in axolemma ISS
    Inferred from Sequence or Structural Similarity
    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 surface ISO
    Inferred from Sequence Orthology
    more info
     
    located_in cell surface ISS
    Inferred from Sequence or Structural Similarity
    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
     
    located_in early endosome ISS
    Inferred from Sequence or Structural Similarity
    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 
    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
     
    located_in membrane ISS
    Inferred from Sequence or Structural Similarity
    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 
    located_in paranodal junction IEA
    Inferred from Electronic Annotation
    more info
     
    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