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Relevance to Autism

Genetic association has been found between the NRCAM gene and autism in a Japanese population cohort (Marui et al., 2009). However, no genetic association was found between the NRCAM gene and autism in a US population cohort (Hutcheson et al., 2004).

Molecular Function

The encoded protein is a cell-cell adhesion molecule that participates in neuro nal outgrowth and guidance processes.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Association of the neuronal cell adhesion molecule (NRCAM) gene variants with autism.
ASD
Negative Association
Examination of NRCAM, LRRN3, KIAA0716, and LAMB1 as autism candidate genes.
ASD
Support
Integrating de novo and inherited variants in 42
ASD
Support
Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders.
ASD
Highly Cited
Molecular composition of the node of Ranvier: identification of ankyrin-binding cell adhesion molecules neurofascin (mucin?? FNIII domain-) an...
Recent Recommendation
The shed ectodomain of Nr-CAM stimulates cell proliferation and motility, and confers cell transformation.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN177R001 
 missense_variant 
 c.2557C>T 
 p.Arg853Cys 
 Familial 
  
 Extended multiplex (at least one pair of ASD affec 
 GEN177R002 
 missense_variant 
 c.1928T>C 
 p.Val643Ala 
 De novo 
  
 Multiplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN177C001 
 intron_variant 
 rs1859767 
 c.-332+8364T>A;c.-390+8364T>A;c.-332+8791T>A 
 A to T 
 Japanese 
 Discovery 
 GEN177C002 
 intron_variant 
 rs1034825 
 c.-332+13182G>A;c.-390+13182G>A;c.-332+13609G>A 
  
 Japanese 
 Discovery 
 GEN177C003 
 intron_variant 
 rs2300045 
 c.-331-23201A>G;c.-389-23201A>G 
 T to C 
 Japanese 
 Discovery 
 GEN177C004 
 intron_variant 
 rs2300043 
 c.-331-23058C>G;c.-389-23058C>G 
 T to C 
 Japanese 
 Discovery 
 GEN177C005 
 intron_variant 
 rs1269655 
 c.-106-21769G>C;c.-164-27251G>C 
  
 Japanese 
 Discovery 
 GEN177C006 
 intron_variant 
 rs1269642 
 c.-106-6865C>A;c.-164-12347C>A 
  
 Japanese 
 Discovery 
 GEN177C007 
 synonymous_variant, non_coding_transcript_variant 
 rs1269621 
 c.1032C>T;c.975C>T;c.1014C>T;c.744C>T 
 p.(=) 
 Japanese 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
7
Deletion
 2
 
7
Deletion-Duplication
 28
 
7
Deletion
 1
 
7
Deletion
 1
 
7
Deletion-Duplication
 45
 

Model Summary

Evidence that Nrcam mediates domains of function relevant to symptoms observed in autism.

References

Type
Title
Author, Year
Primary
Impaired sociability and cognitive function in Nrcam-null mice.

M_NRCAM_1_KO_HM

Model Type: Genetic
Model Genotype: Homozygous
Mutation: Targeted deletion of second exon of Nrcam gene to remove the ATG translation initiation codon and the signal sequence using homologous recombination to.
Allele Type: Targeted (Knock Out)
Strain of Origin: Not Specified
Genetic Background: 129S6/SvEvTac x Swiss Webster
ES Cell Line: W4
Mutant ES Cell Line: Not Specified
Model Source: Not Specified

M_NRCAM_1_KO_HM

Category
Entity
Quantity
Experimental Paradigm
Age at Testing
General locomotor activity1
Abnormal
Description: Abnormal locomotor activity; no change in rearing activity
Exp Paradigm: Female mice; open-field test
 Open field test
 Unreported
Motor coordination and balance1
Abnormal
Description: Abnormal muscle coordination demonstrated by decreased latency to fall from rotating barrel
Exp Paradigm: Female mice; accelerating rota-rod test
 Accelerating rotarod test
 Unreported
Sensorimotor gating1
Abnormal
Description: Abnormal sensorimotor gating; reduced prepulse inhibtion
Exp Paradigm: Male mice; prepulse inhibition of the acoustic startle response as a measure of sensorimotor gating.
 Prepulse inhibition
 Unreported
Olfaction1
Decreased
Description: Decreased olfactory ability
Exp Paradigm: Buried food test for olfaction
 Buried food test
 Unreported
Social approach1
Decreased
Description: Decreased in social approach demonstrated by no preference for spending more time in proximity to the unfamiliar stranger mouse versus empty cage; decreased preference for a new stranger than a familiar stranger
Exp Paradigm: Male mice; social preference test in tri-partite chamber
 Three-chamber social approach test
 Unreported
Social approach1
Decreased
Description: Decreased in social approach demonstrated by no preference for spending more time in proximity to the unfamiliar stranger mouse versus empty cage; decreased preference for a new stranger than a familiar stranger
Exp Paradigm: Female mice; social preference test in tri-partite chamber
 Three-chamber social approach test
 Unreported
Spatial reference memory1
Abnormal
Description: Abnormal spatial reference memory; impaired initial task and acquisition and reversal learning; absence of for formation of new quadrant preference
Exp Paradigm: Female mice; morris water maze task
 Morris water maze test
 Unreported
Size/growth1
 No change
 General observations
 Unreported
Anxiety1
 No change
 Elevated plus maze test
 Unreported
Spatial reference memory1
 No change
 Morris water maze test
 Unreported
General locomotor activity1
 No change
 Open field test
 Unreported
Motor coordination and balance1
 No change
 Accelerating rotarod test
 Unreported
Swimming ability1
 No change
 Morris water maze test
 Unreported
Swimming ability1
 No change
 Morris water maze test
 Unreported
Sensorimotor gating1
 No change
 Prepulse inhibition
 Unreported
Vision1
 No change
 Morris water maze test
 Unreported
Vision1
 No change
 Morris water maze test
 Unreported
 Not Reported: Circadian sleep/wake cycle, Communications, Immune response, Maternal behavior, Molecular profile, Neuroanatomy / ultrastructure / cytoarchitecture, Neurophysiology, Physiological parameters, Repetitive behavior, Seizure





Download NRCAM's Cytoscape file

Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
FMR1 fragile X mental retardation 1 2332 G8JLE9 PAR-CLIP; RNA immunoprecipitation (RIP)
Ascano M Jr , et al. 2012
NRP2 neuropilin 2 8828 O60462 IP/WB
Falk J , et al. 2005
UBC ubiquitin C 7316 P63279 MS/MS
Kim W , et al. 2011
Rbfox1 RNA binding protein, fox-1 homolog (C. elegans) 1 268859 Q9JJ43 HITS-CLIP
Weyn-Vanhentenryck SM , et al. 2014
ANK2 ankyrin 2, neuronal 362036 F1LM42 IP/WB
Davis JQ and Bennett V 1994
ANK3 ankyrin 3, node of Ranvier 361833 O70511 IP/WB; in vitro binding assay
Davis JQ and Bennett V 1994

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