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Cntnap2 Gene Detail
Summary
  • Symbol
    Cntnap2
  • Name
    contactin associated protein-like 2
  • Synonyms
    5430425M22Rik, Caspr2, mKIAA0868
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914047
    NCBI Gene: 66797
  • Gene Overview
    MyGene.info: CNTNAP2
Location & Maps
more
  • Sequence Map
    Chr6:45059357-47304213 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      2244857 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 6, 21.81 cM, cytoband B2
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    CNTNAP2, contactin associated protein-like 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CNTNAP2, contactin associated protein-like 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    AUTS15, CASPR2, CDFE, NRXN4, PTHSL1
  • Links
    NCBI Gene ID: 26047
    neXtProt AC: NX_Q9UHC6

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

Human Diseases
more
  • Diseases
    2 with Cntnap2 mouse models; 2 with human CNTNAP2 associations

Human Disease Mouse Models
       Cortical Dysplasia-Focal Epilepsy Syndrome; CDFES   OMIM: 610042 View 1 model
       Autism   OMIM: 209850 View 1 model
       Autism, Susceptibility to, 15; AUTS15   OMIM: 612100
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    23 phenotypes from 2 alleles in 3 genetic backgrounds
    17 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Inactivation of this gene results in molecular abnormalities within the central nervous system, but homozygous mutant mice show no overt phenotype.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000022414 VEGA Gene Model | MGI Sequence Detail 2244857 C57BL/6J ±  kb
transcript OTTMUST00000053586 VEGA | MGI Sequence Detail 9827 Not Applicable  
polypeptide OTTMUSP00000025482 VEGA | MGI Sequence Detail 1332 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    13528 from dbSNP Build 142
Protein
Information
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  • UniProt
    6 Sequences
  • Protein Ontology
    PR:000005673 contactin-associated protein-like 2
  • InterPro Domains
    IPR000421 Coagulation factor 5/8 C-terminal domain
    IPR013320 Concanavalin A-like lectin/glucanase domain
    IPR029831 Contactin-associated protein-like 2
    IPR000742 EGF-like domain
    IPR002181 Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain
    IPR008979 Galactose-binding domain-like
    IPR001791 Laminin G domain
    IPR003585 Neurexin/syndecan/glycophorin C
Molecular
Reagents
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  • All nucleic 5
    cDNA 5

    Microarray probesets 5
References
more
  • Summaries
    All 57
    Developmental Gene Expression 8
    Diseases 1
    Gene Ontology 11
    Phenotypes 17
  • 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:229005 Gordon A, et al., Expression of Cntnap2 (Caspr2) in multiple levels of sensory systems. Mol Cell Neurosci. 2016 Jan;70:42-53

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/13/2016
MGI 6.05
The Jackson Laboratory