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FLASH GENE

Symbol

NRCAM

contributors: mct - updated : 23-03-2022

HGNC name	neuronal cell adhesion molecule
HGNC id	7994

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Endocrine adrenal gland       highly Homo sapiens   pancreas         Homo sapiens Hearing/Equilibrium ear inner cochlea   highly Homo sapiens Fetal Nervous brain       highly Homo sapiens Reproductive female system placenta       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal     Nervous peripherous

cells

System Cell Pubmed Species Stage Rna symbol Nervous glia Homo sapiens Nervous neuron Homo sapiens Nervous Purkinje cell

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	cerebellum

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)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
	System Type Disorder Pubmed cancer endocrine thyroid 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