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Cntnap2
Gene Detail
Symbol

Name
ID
Cntnap2
contactin associated protein-like 2
MGI:1914047
Synonyms
5430425M22Rik, Caspr2, mKIAA0868
Feature Type
protein coding gene
Genetic Map
Chromosome 6
21.81 cM, cytoband B2
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr6:45060061-47304213 bp, + strand
From VEGA annotation of GRCm38

  2244153 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:69159  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: CNTNAP2
Protein SuperFamily: paranodin
Gene Tree: Cntnap2

Human
homologs
CNTNAP2, contactin associated protein-like 2
Orthology source: HomoloGene

IDs:
NCBI Gene ID: 26047
neXtProt AC: NX_Q9UHC6

Human Synonyms: AUTS15, CASPR2, CDFE, NRXN4, PTHSL1

Human Chr (Location): 7q35; chr7:146116361-148420998 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human CNTNAP2

Mutations,
alleles, and
phenotypes
All mutations/alleles(16) : Gene trapped(15) Targeted(1)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Inactivation of this gene results in molecular abnormalities within the central nervous system, but homozygous mutant mice show no overt phenotype.
 
Human Diseases Modeled in Mice Using Cntnap2 (2)    Mutations Annotated to Human Diseases (1)   
Interactions
Cntnap2 interacts with 351 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (24 annotations)
Process adult behavior, cell adhesion, ...
Component axolemma, cell projection, ...
Function enzyme binding, protease binding, ...
External Resources: FuncBase
Expression
Literature Summary: (7 records)
Data Summary: Results (96)    Tissues (8)    Images (24)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 96
cDNA source data(5)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase cntnap2 ; ZFIN cntnap2a    NEW 
Molecular
reagents
All nucleic(5) cDNA(5)
Microarray probesets(5)
Other database
links
VEGA Gene Model OTTMUSG00000022414 (Evidence)
Ensembl Gene Model ENSMUSG00000039419 (Evidence)
Entrez Gene 66797 (Evidence)
DFCI TC1583877, TC1597355, TC1625186, TC1645766, TC1669120, TC1682375
DoTS DT.101294345, DT.110485961, DT.55282261, DT.94148155, DT.97359044
NIA Mouse Gene Index U048250
Consensus CDS Project CCDS20094.1, CCDS39475.1
International Mouse Phenotyping Consortium Status Cntnap2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022414 VEGA Gene Model | MGI Sequence Detail 2244153 C57BL/6J ±  kb
transcript OTTMUST00000053586 VEGA | MGI Sequence Detail 9827 Not Applicable 
polypeptide OTTMUSP00000025482 VEGA | MGI Sequence Detail 1332 Not Applicable 

For the selected sequences
All sequences(56) RefSeq(6) UniProt(5)
Polymorphisms
SNPs within 2kb(13738 from dbSNP Build 137)    SNPs within 2kb including multiple locations(13922)
Protein-related
information
ResourceIDDescription
InterPro IPR000421 Coagulation factor 5/8 C-terminal domain
InterPro IPR013320 Concanavalin A-like lectin/glucanase domain
InterPro IPR029831 Contactin-associated protein-like 2
InterPro IPR000742 EGF-like domain
InterPro IPR002181 Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain
InterPro IPR008979 Galactose-binding domain-like
InterPro IPR001791 Laminin G domain
InterPro IPR003585 Neurexin/syndecan/glycophorin C
Protein Ontology PR:000005673 contactin-associated protein-like 2
References
(Earliest) J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
(Latest) J:221413 Varea O, et al., Synaptic abnormalities and cytoplasmic glutamate receptor aggregates in contactin associated protein-like 2/Caspr2 knockout neurons. Proc Natl Acad Sci U S A. 2015 May 12;112(19):6176-81
All references(54)
Disease annotation references (1)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
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last database update
08/25/2015
MGI 6.0
The Jackson Laboratory