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FLASH GENE
Symbol CNTNAP2 contributors: mct/ - updated : 20-10-2015
HGNC name contactin associated protein-like 2
HGNC id 13830
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