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FLASH GENE
Symbol NRCAM contributors: mct - updated : 23-03-2022
HGNC name neuronal cell adhesion molecule
HGNC id 7994
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • large N-terminal extracellular region which consists of six Ig-like domains followed by five Fn-III repeats,
  • a single transmembrane segment (1TM)
  • a short cytoplasmic tail
  • and an intracellular C terminus
    • HOMOLOGY
    Homologene
    FAMILY
  • immunoglobulin superfamily L1/NgCAM and neurofascin related
  • L1 family of cell adhesion molecules
    • CATEGORY adhesion
    SUBCELLULAR LOCALIZATION extracellular
        plasma membrane
    basic FUNCTION
  • involved in axon growth
  • playing a possible role in the maturation or stabilization of the synaptic contacts, in particular between climbing fibers and Purkinje cells
  • CNTN1, CNTN2 and L1-like proteins (NRCAM) play a significant role in modulating SHH-induced neuronal precursor proliferation
  • required for normal maturation of cortical visual acuity
  • functions in cell adhesion and modulates signaling pathways in neural development through multiple molecular interactions with guidance and other factors
  • is a regulator of axon growth and repellent guidance, and has been implicated in autism spectrum disorders
  • neuronal cell adhesion molecule involved in neuron-neuron and neuron-glial adhesion as well as directional signaling during axonal cone growth
  • has been shown to be involved in several cellular processes in the central and peripheral nervous systems, including neurite outgrowth, axonal pathfinding and myelination, fasciculation of nerve fibers, and cell migration
  • role for NRCAM in the pathfinding of spiral ganglion dendrites toward their hair cell targets in the sensory epithelium
  • NRCAM-dependent function for ADAM10 in neurite outgrowth
  • neuronal cell adhesion molecule involved in neural development
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with CNTN2 (role in the development of the cerebellar system)
  • initial clustering of Na(+) channels at heminodes requires glial NRCAM and GLDN, as well as their axonal receptor neurofascin 186 (NFASC186)
  • interaction with neuropilin-2 is critical for semaphorin 3F (SEMA3F)-induced guidance of thalamocortical axon subpopulations at the ventral telencephalon, an intermediate target for thalamic axon sorting
  • in the peripheral nervous system (PNS), the axoglial contact mediated by the binding of glial GLDN and NRCAM to axonal NFASC186 is crucial for the initial clustering of voltage-gated Na+ channels at the nodes of Ranvier
  • contributes to mediolateral retinocollicular axon targeting by regulating retinal ganglion cells (RGCs) branch orientation through a likely mechanism in which ephrinB/EphB phosphorylates NRCAM to modulate linkage to the actin cytoskeleton
  • is a novel postnatal regulator of dendritic spine density in cortical pyramidal neurons, and an integral component of the SEMA3F receptor complex
  • mediate spine pruning as a subunit of the receptor complex for the repellent ligand SEMA3F
  • NRCAM stabilizes binding between NRP2 and PLXNA3 necessary for SEMA3F-induced spine pruning
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) DDHNS
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral     --over  
    overexpressed in papillary thyroid carcinomas at the mRNA and protein levels, whatever the tumour stage
    tumoral     --over  
    in papillary thyroid cancer (PTCs)
    Susceptibility to autism (AUTS1)
    Variant & Polymorphism SNP
  • seven SNPs in the NRCAM gene were significantly associated with autism, among which rs2300045 is the most prominent
    • Candidate gene for AUTS9
    Marker
  • may represent a potential diagnostic marker for thyroid cancer
    • Therapy target
    SystemTypeDisorderPubmed
    cancerendocrinethyroid
    may represent a potential therapeutic target for thyroid cancer
    ANIMAL & CELL MODELS
  • concurrent Lpin1 and Nrcam mouse mutations result in severe peripheral neuropathy with transitory hindlimb paralysis
  • peripheral nerves of Nrcam-deficient mice exhibit delayed or abnormal node formation