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

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, Oct 2024]
Expression: Biased expression in CNS E18 (RPKM 4.2), whole brain E14.5 (RPKM 3.7) and 7 other tissues See more
Orthologs: human all
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Genomic context

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_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Mouse ENCODE transcriptome data 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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Transient CSF1R inhibition ameliorates behavioral deficits in Cntnap2 knockout and valproic acid-exposed mouse models of autism.
Title: Transient CSF1R inhibition ameliorates behavioral deficits in Cntnap2 knockout and valproic acid-exposed mouse models of autism.
Degraded tactile coding in the Cntnap2 mouse model of autism.
Title: Degraded tactile coding in the Cntnap2 mouse model of autism.
Contactin-associated protein-like 2 (CNTNAP2) mutations impair the essential alpha-secretase cleavages, leading to autism-like phenotypes.
Title: Contactin-associated protein-like 2 (CNTNAP2) mutations impair the essential α-secretase cleavages, leading to autism-like phenotypes.
Gene Expression Profiling in Trigeminal Ganglia from Cntnap2[-/-] and Shank3b[-/-] Mouse Models of Autism Spectrum Disorder.
Title: Gene Expression Profiling in Trigeminal Ganglia from Cntnap2(-/-) and Shank3b(-/-) Mouse Models of Autism Spectrum Disorder.
CNTNAP2 intracellular domain (CICD) generated by gamma-secretase cleavage improves autism-related behaviors.
Title: CNTNAP2 intracellular domain (CICD) generated by γ-secretase cleavage improves autism-related behaviors.
Cntnap2-dependent molecular networks in autism spectrum disorder revealed through an integrative multi-omics analysis.
Title: Cntnap2-dependent molecular networks in autism spectrum disorder revealed through an integrative multi-omics analysis.
Somatosensory cortex hyperconnectivity and impaired whisker-dependent responses in Cntnap2(-/-) mice.
Title: Somatosensory cortex hyperconnectivity and impaired whisker-dependent responses in Cntnap2(-/-) mice.
Human CASPR2 Antibodies Reversibly Alter Memory and the CASPR2 Protein Complex.
Title: Human CASPR2 Antibodies Reversibly Alter Memory and the CASPR2 Protein Complex.
Deep phenotyping reveals movement phenotypes in mouse neurodevelopmental models.
Title: Deep phenotyping reveals movement phenotypes in mouse neurodevelopmental models.
Oxytocin normalizes altered circuit connectivity for social rescue of the Cntnap2 knockout mouse.
Title: Oxytocin normalizes altered circuit connectivity for social rescue of the Cntnap2 knockout mouse.

Submit: New GeneRIF Correction See all GeneRIFs (44)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Endonuclease-mediated (8)
Targeted (2) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D6Mit273 (e-PCR), detects polymorphism
- UniSTS:130820

NoName (e-PCR)
- UniSTS:224557

D4Rat30 (e-PCR), detects polymorphism
- UniSTS:118832

MTH563 (e-PCR)
- UniSTS:130864

Rbpj (e-PCR), detects polymorphism
- UniSTS:465468

C87102 (e-PCR)
- UniSTS:207944

D6Mit349 (e-PCR), detects polymorphism
- UniSTS:130899

Rbpsuh-rs3 (e-PCR), detects polymorphism
- UniSTS:166228

D6Mit223 (e-PCR), detects polymorphism
- UniSTS:116320

D6Mit224 (e-PCR), detects polymorphism
- UniSTS:116321

X17459 (e-PCR)
- UniSTS:125802

D6Dcr6 (e-PCR), detects polymorphism
- UniSTS:507761

D6Mit75 (e-PCR), detects polymorphism
- UniSTS:130977

NoName (e-PCR)
- UniSTS:224710

Rbpsuh (e-PCR), detects polymorphism
- UniSTS:144333

RH137515 (e-PCR)
- UniSTS:219603

D13Mit121.2 (e-PCR), detects polymorphism
- UniSTS:126948

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

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Preferred Names: contactin-associated protein-like 2

Names: cell recognition molecule Caspr2

NCBI Reference Sequences (RefSeq)

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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)

NM_001004357.2 → NP_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:1283 → 1301

4.1m; putative band 4.1 homologues' binding motif

smart00231
Location:34 → 181

FA58C; Coagulation factor 5/8 C-terminal domain, discoidin domain

smart00282
Location:1051 → 1187

LamG; Laminin G domain

cd00054
Location:555 → 590

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:58 → 180

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:800 → 943

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:967 → 992

EGF; EGF-like domain

pfam02210
Location:216 → 345

Laminin_G_2; Laminin G domain

cl02436
Location:609 → 632

COLFI; Fibrillar collagen C-terminal domain
NM_025771.3 → NP_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:59 → 77

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

NC_000072.7 Reference GRCm39 C57BL/6J

Range

45036995..47278330

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

Conserved Domains (3) summary

smart00294
Location:342 → 360

4.1m; putative band 4.1 homologues' binding motif

smart00282
Location:110 → 246

LamG; Laminin G domain

pfam00008
Location:26 → 51

EGF; EGF-like domain
XM_030255547.2 → XP_030111407.1 contactin-associated protein-like 2 isoform X2

UniProtKB/TrEMBL

Q3SYI6

Conserved Domains (1) summary

smart00294
Location:59 → 77

4.1m; putative band 4.1 homologues' binding motif