Selected-GenAtlas references SOURCE GeneCards NCBI Gene Swiss-Prot Orphanet Ensembl
HGNC UniGene Nucleotide OMIM UCSC
Home Page
FLASH GENE
Symbol CNTNAP2 contributors: mct/ - updated : 20-10-2015
HGNC name contactin associated protein-like 2
HGNC id 13830
DNA
TYPE functioning gene
STRUCTURE 2304.64 kb     24 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence cytosine-phosphate-guanine/HTF
MAPPING cloned Y linked N status provisional
Map cen - ARHGEF5 - D7S1486 - D7S676 - [D7S1925 - D7S498 - D7S2511 ] - D7S2442 - D7S2419 - D7S688 - CUL1 - qter
Text [CNTNAP2 ]
Physical map
LOC392142 7 hypothetical gene supported by BC016940 LOC346528 7q35 similar to Olfactory receptor 2A1 ARHGEF5 7q33-q35 Rho guanine nucleotide exchange factor (GEF) 5 LOC135935 7q35 similar to OG-2 homeodomain protein-like; similar to U65067 (PID:g1575526) LOC392143 7 similar to peptidyl-Pro cis trans isomerase TPK1 7q34 thiamin pyrophosphokinase 1 LOC340312 7q35 similar to Importin alpha-2 subunit (Karyopherin alpha-2 subunit) (SRP1-alpha) (RAG cohort protein 1) LOC392144 7 similar to ribosomal protein L7 CNTNAP2 7q35.1-q35.2 contactin associated protein-like 2 LOC392145 7 similar to Mtr3 (mRNA transport regulator 3)-homolog; Mtr3 (mRNA transport regulator 3)-homolog (yeast) LOC392146 7 similar to 60S ribosomal protein L32 C7orf33 7q36.1 chromosome 7 open reading frame 33 LOC392147 7 similar to Huntingtin interacting protein K CUL1 7q35-q36 cullin 1 EZH2 7q35 enhancer of zeste homolog 2 (Drosophila) RNY5 7q36 RNA, Y5 small cytoplasmic (associated with Ro protein) ERP70 7q35 protein disulfide isomerase related protein (calcium-binding protein, intestinal-related) DKFZp762I137 7q36.1 hypothetical protein DKFZp762I137 LOC155054 7q36.1 hypothetical protein LOC155054 ZNF398 7q36.1 zinc finger protein 398
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
24 - 9890 - 1331 - 2009 19166515
3 - - - - - 2010 20711234
  • derived from the alternative promoter present between exons 21 and 22
  • contains only the last three coding exons and, on the protein level, lacks the extracellular domain
  • apparently does not function as a cell adhesion molecule and may compete with expression of full-length CNTNAP2
  • EXPRESSION
    Type widely
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Nervousbrainforebraincerebral cortextemporal cortexhighly Homo sapiens
     braindiencephalonthalamus highly Homo sapiens
     brainbasal nucleistriatum highly Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscular    
    Nervousperipherous   
    cells
    SystemCellPubmedSpeciesStageRna symbol
    Nervousglia Homo sapiens
    Nervousneuron Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text
  • during myelination, CNTNAP2 localizes to the developing nodes of Ranvier
  • PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a signal peptide
  • two epidermal growth factor repeats
  • three laminin G-like domains
  • one F5/8 type C domain
  • one GNP motif
  • a PDZ binding motif
  • 13 potential N-linked glycosylation sites in its extracellular domain
  • HOMOLOGY
    interspecies ortholog to murine Cntnap2
    Homologene
    FAMILY
  • neurexin family, contactin-associated protein family
  • CATEGORY adhesion , tumor suppressor , signaling
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,Golgi
    text
  • type 1 membrane protein
  • located in a specific compartment at the nodes of Ranvier of axons
  • is localized at the axon initial segment, a region that is characterized by a high concentration of K+ channels
  • basic FUNCTION
  • may be playing a role in the formation of functional distinct domains critical for saltatory conduction of nerve impulses in myelinated nerve fibers
  • playing a role in circuits important for language development
  • involved in clustering of K+ channels in the juxtaparanodal region of the nodes of Ranvier
  • having dynamic synaptic function, potentially involving synaptic structural reorganization, as observed for other neurexin superfamily members
  • regulates neuron-glia contact and colocalize with Shaker-like K+ channels in the juxtaparanodal areas of Ranvier nodes in myelinated axons of both the central and peripheral nervous system
  • acts as a tumor suppressor gene in glioma
  • functional role for CNTNAP2 in brain development
  • involved in the development of cortical circuits and further support alterations in brain synchrony or connectivity in ASD pathophysiology
  • necessary for the normal migration of cortical projection neurons
  • role for CNTNAP2 in GABAergic interneuron development
  • juxtaparanodal proteins CNTNAP2 and CNTN2 regulate diet-induced obesity
  • required for normal development of neural networks
  • cell-autonomous function of CNTNAP2 in controlling the arborization of dendrites and the maturation of dendritic spines
  • essential role for CNTNAP2 in the assembly of the nodes of Ranvier in myelinated axons
  • cell-autonomous function for CNTNAP2 in controlling the growth of dendritic arbors and spines before myelination
  • plays an important role for neuronal synchronization and brain connectivity
  • role for CNTNAP2 fine-regulation in human-specific language and communication traits
  • CNTNAP1, CNTNAP2 are required for the organization of the axolemma both radially, manifested as the mesaxonal line, and longitudinally, demarcated by the nodal domains
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling neurotransmission
  • transmission of nerve impulse
  • FOXP2-CNTNAP2 pathway provides a mechanistic link between clinically distinct syndromes involving disrupted language
  • a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • EPB41
  • EPB41L3 (through GNP motif)
  • interaction with FOXP2
  • carboxypeptidase E (CPE) is a CNTNAP2-interacting candidate protein
  • CNTNAP2 associates with micromolar affinity with CNTN1 but, under the same conditions, it does not interact with any of the other members of the contactin family
  • CNTN1 is an endogenous ligand for CNTNAP2
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) CDFE , AUTS1 , SPCHSL , PTHS3
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional        
    lead to a disturbed distribution of the K(+) channels in the nervous system, influencing conduction and/or repolarization, causing movements of Gilles de la Tourette syndrome and obsessive compulsive disorder
    constitutional       loss of function
    in schizophrenia
    tumoral     --over  
    positively correlated with survival and is an independent prognostic factor in glioma
    Susceptibility
  • first widely replicated autism-predisposition gene, see AUTS1, AUTS15 and AUTS19
  • to Gilles de la Tourette syndrome and obsessive compulsive disorder
  • to autism and language impairment
  • Variant & Polymorphism
  • deleterious variant associated with autism : I869T
  • SNP rs2710102 associated with autism in male probands (association between variation at rs2710102 and age at first word in ASD samples from male-only families)
  • rs7794745 with T allele enriched in probands with autism
  • Candidate gene for a subtype of ASD
    Marker
    Therapy target
    ANIMAL & CELL MODELS
    Cntnap2-/- mice show deficits in the three core ASD behavioral domains, as well as hyperactivity and epileptic seizures