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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
  • Alliance
    gene page
  • Transcription Start Sites
    16 TSS
Location &
Maps
more
  • Sequence Map
    Chr6:45036995-47278330 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 6, 21.81 cM, cytoband B2
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    62284 from dbSNP Build 142
  • Strain Annotations
    17
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914047
 protein coding gene Chr6:45036291-47281147 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030679
 protein coding gene Chr6:43762045-46184125 (+)
A/J MGP_AJ_G0030652
 protein coding gene Chr6:41810578-44041857 (+)
AKR/J MGP_AKRJ_G0030577
 protein coding gene Chr6:43202997-45560572 (+)
BALB/cJ MGP_BALBcJ_G0030662
 protein coding gene Chr6:42109925-44397950 (+)
C3H/HeJ MGP_C3HHeJ_G0030375
 protein coding gene Chr6:43228165-45611823 (+)
C57BL/6NJ MGP_C57BL6NJ_G0031116
 protein coding gene Chr6:44862259-47303646 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028323
 protein coding gene Chr6:40680727-41760945 (+)
CAST/EiJ MGP_CASTEiJ_G0029779
 protein coding gene Chr6:43011010-45441917 (+)
CBA/J MGP_CBAJ_G0030350
 protein coding gene Chr6:46598112-49192571 (+)
DBA/2J MGP_DBA2J_G0030499
 protein coding gene Chr6:41712626-43993026 (+)
FVB/NJ MGP_FVBNJ_G0030450
 protein coding gene Chr6:41415777-43630943 (+)
LP/J MGP_LPJ_G0030583
 protein coding gene Chr6:43758234-46095568 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030485
 protein coding gene Chr6:49184917-52088435 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0031146
 protein coding gene Chr6:43140981-45502557 (+)
PWK/PhJ MGP_PWKPhJ_G0029491
 protein coding gene Chr6:41255659-43610974 (+)
SPRET/EiJ no annotation
WSB/EiJ MGP_WSBEiJ_G0029855
 protein coding gene Chr6:43080186-45480660 (+)



Homology
more
  • Human Ortholog
    CNTNAP2, contactin associated protein 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CNTNAP2, contactin associated protein 2
  • Synonyms
    AUTS15, CASPR2, CDFE, NRXN4, PTHSL1
  • Links
    NCBI Gene ID: 26047
    neXtProt AC: NX_Q9UHC6
    UniProt: Q9UHC6

  • Chr Location
    7q35-q36.1; chr7:146116002-148420998 (+)  GRCh38
Human Diseases
more
  • Diseases
    2 with Cntnap2 mouse models; 13 with human CNTNAP2 associations

Human Disease Mouse Models
      
IDs
 View 2 models
IDs
 View 1 model
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    24 phenotypes from 3 alleles in 4 genetic backgrounds
    102 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
less
  • All GO Annotations
    161
  • GO References
    48
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1045
  • Tissues
    153
  • cDNA Data
    7
  • Literature Summary
    17
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 66797 NCBI Gene Model | MGI Sequence Detail 2241336 C57BL/6J ±  kb
    transcript NM_001004357 RefSeq | MGI Sequence Detail 7002 C57BL/6  
    polypeptide Q9CPW0 UniProt | EBI | MGI Sequence Detail 1332 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      6 Sequences
    • Protein Ontology
      PR:000005673 contactin-associated protein-like 2
      (term hierarchy)
    • InterPro Domains
      IPR000421 Coagulation factor 5/8 C-terminal domain
      IPR013320 Concanavalin A-like lectin/glucanase domain superfamily
      IPR000742 EGF-like domain
      IPR002181 Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain
      IPR036056 Fibrinogen-like, C-terminal
      IPR008979 Galactose-binding-like domain superfamily
      IPR042192 Glycophorin-C
      IPR001791 Laminin G domain
      IPR050372 Neurexin-related cell adhesion and synaptic protein
      IPR003585 Neurexin/syndecan/glycophorin C
    • GlyGen
      Q9CPW0 12 sites, 22 N-linked glycans (9 sites), 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 10
      cDNA 7
      Primer pair 3

      Microarray probesets 5
    References
    more
    • Summaries
      All 155
      Developmental Gene Expression 17
      Diseases 2
      Gene Ontology 48
      Phenotypes 102
    • 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:353607 Wang HC, et al., Degraded tactile coding in the Cntnap2 mouse model of autism. Cell Rep. 2024 Aug 27;43(8):114612
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/10/2024
    MGI 6.24     		The Jackson Laboratory