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Aliases for NRCAM Gene

Aliases for NRCAM Gene

  • Neuronal Cell Adhesion Molecule 2 3 5
  • NgCAM-Related Cell Adhesion Molecule 2 4
  • Neuronal Surface Protein Bravo 4
  • Ng-CAM-Related 4
  • KIAA0343 4
  • Nr-CAM 4
  • HBravo 4

External Ids for NRCAM Gene

Previous GeneCards Identifiers for NRCAM Gene

  • GC07M106271
  • GC07M107334
  • GC07M107348
  • GC07M107382
  • GC07M107575
  • GC07M107788
  • GC07M102150

Summaries for NRCAM Gene

Entrez Gene Summary for NRCAM Gene

  • Cell adhesion molecules (CAMs) are members of the immunoglobulin superfamily. This gene encodes a neuronal cell adhesion molecule with multiple immunoglobulin-like C2-type domains and fibronectin type-III domains. This ankyrin-binding protein is involved in neuron-neuron adhesion and promotes directional signaling during axonal cone growth. This gene is also expressed in non-neural tissues and may play a general role in cell-cell communication via signaling from its intracellular domain to the actin cytoskeleton during directional cell migration. Allelic variants of this gene have been associated with autism and addiction vulnerability. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

GeneCards Summary for NRCAM Gene

NRCAM (Neuronal Cell Adhesion Molecule) is a Protein Coding gene. Diseases associated with NRCAM include Autism and Autism Spectrum Disorder. Among its related pathways are L1CAM interactions and Developmental Biology. Gene Ontology (GO) annotations related to this gene include ankyrin binding and protein binding involved in heterotypic cell-cell adhesion. An important paralog of this gene is NFASC.

UniProtKB/Swiss-Prot for NRCAM Gene

  • Cell adhesion protein that is required for normal responses to cell-cell contacts in brain and in the peripheral nervous system. Plays a role in neurite outgrowth in response to contactin binding. Plays a role in mediating cell-cell contacts between Schwann cells and axons. Plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Nodes of Ranvier contain clustered sodium channels that are crucial for the saltatory propagation of action potentials along myelinated axons. During development, nodes of Ranvier are formed by the fusion of two heminodes. Required for normal clustering of sodium channels at heminodes; not required for the formation of mature nodes with normal sodium channel clusters. Required, together with GLDN, for maintaining NFASC and sodium channel clusters at mature nodes of Ranvier.

Gene Wiki entry for NRCAM Gene

Additional gene information for NRCAM Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NRCAM Gene

Genomics for NRCAM Gene

GeneHancer (GH) Regulatory Elements for NRCAM Gene

Promoters and enhancers for NRCAM Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I108453 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 554.8 +1.2 1221 3.2 SIN3A FEZF1 ZNF2 GLIS2 ZNF548 KLF13 SP3 REST ZNF610 GLIS1 NRCAM THAP5 ENSG00000273055 LAMB1 RPL7P32 GC07M108348
GH07I108263 Promoter 0.6 EPDnew 550.1 +194.6 194576 0.1 MZF1 NRCAM RNU7-83P LOC102724363
GH07I108240 Promoter 0.5 EPDnew 550.1 +216.7 216675 0.1 NRCAM RNU7-83P LOC102724363
GH07I108413 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 11.8 +41.1 41103 3.9 SIN3A MZF1 BMI1 BATF ZNF335 RCOR1 IKZF2 RUNX3 SMARCA5 CBFB THAP5 PNPLA8 NRCAM DNAJB9 GC07M108348
GH07I108420 Enhancer 1 FANTOM5 ENCODE dbSUPER 11.8 +36.2 36175 0.8 JUN MAFG SP1 NFE2 PRDM10 FOSL2 RCOR1 NFE2L2 CHD2 PNPLA8 NRCAM DNAJB9 GC07M108348
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around NRCAM on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NRCAM gene promoter:

Genomic Locations for NRCAM Gene

Genomic Locations for NRCAM Gene
chr7:108,147,623-108,456,717
(GRCh38/hg38)
Size:
309,095 bases
Orientation:
Minus strand
chr7:107,788,068-108,097,161
(GRCh37/hg19)

Genomic View for NRCAM Gene

Genes around NRCAM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NRCAM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NRCAM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NRCAM Gene

Proteins for NRCAM Gene

  • Protein details for NRCAM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92823-NRCAM_HUMAN
    Recommended name:
    Neuronal cell adhesion molecule
    Protein Accession:
    Q92823
    Secondary Accessions:
    • A4D0S3
    • E9PDA4
    • O15051
    • O15179
    • Q14BM2
    • Q9UHI3
    • Q9UHI4

    Protein attributes for NRCAM Gene

    Size:
    1304 amino acids
    Molecular mass:
    143890 Da
    Quaternary structure:
    • Constituent of a NFASC/NRCAM/ankyrin-G complex. Detected in a complex with CNTN1 and PTPRB. Interacts with GLDN/gliomedin (By similarity). Interacts with MYOC (PubMed:23897819).
    SequenceCaution:
    • Sequence=AAC50765.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA20801.2; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NRCAM Gene

    Alternative splice isoforms for NRCAM Gene

neXtProt entry for NRCAM Gene

Post-translational modifications for NRCAM Gene

  • Glycosylation at isoforms=2, 3, 4, 5, 683, Asn223, Asn245, Asn251, Asn276, isoforms=2, 3, 4, 5, 6314, Asn433, Asn507, Asn619, Asn716, isoforms=2, 3, 4, 5, 6802, isoforms=2, 3, 4, 5, 6858, isoforms=2, 3, 4, 5, 6993, Asn1009, isoforms=2, 3, 4, 5, 61019, isoforms=2, 51072, Asn1083, and Asn1115

No data available for DME Specific Peptides for NRCAM Gene

Domains & Families for NRCAM Gene

Graphical View of Domain Structure for InterPro Entry

Q92823

UniProtKB/Swiss-Prot:

NRCAM_HUMAN :
  • Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.
Family:
  • Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.
genes like me logo Genes that share domains with NRCAM: view

Function for NRCAM Gene

Molecular function for NRCAM Gene

GENATLAS Biochemistry:
neuron-glia-CAM-related cell-adhesion molecule,murine Nrcam homolog
UniProtKB/Swiss-Prot Function:
Cell adhesion protein that is required for normal responses to cell-cell contacts in brain and in the peripheral nervous system. Plays a role in neurite outgrowth in response to contactin binding. Plays a role in mediating cell-cell contacts between Schwann cells and axons. Plays a role in the formation and maintenance of the nodes of Ranvier on myelinated axons. Nodes of Ranvier contain clustered sodium channels that are crucial for the saltatory propagation of action potentials along myelinated axons. During development, nodes of Ranvier are formed by the fusion of two heminodes. Required for normal clustering of sodium channels at heminodes; not required for the formation of mature nodes with normal sodium channel clusters. Required, together with GLDN, for maintaining NFASC and sodium channel clusters at mature nodes of Ranvier.

Phenotypes From GWAS Catalog for NRCAM Gene

Gene Ontology (GO) - Molecular Function for NRCAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23897819
GO:0030506 ankyrin binding IDA 14602817
GO:0086080 protein binding involved in heterotypic cell-cell adhesion IEA --
genes like me logo Genes that share ontologies with NRCAM: view
genes like me logo Genes that share phenotypes with NRCAM: view

Animal Models for NRCAM Gene

MGI Knock Outs for NRCAM:

Animal Model Products

CRISPR Products

miRNA for NRCAM Gene

miRTarBase miRNAs that target NRCAM

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NRCAM Gene

Localization for NRCAM Gene

Subcellular locations from UniProtKB/Swiss-Prot for NRCAM Gene

Cell membrane; Single-pass type I membrane protein. Cell projection, axon. Secreted. Note=Detected at nodes of Ranvier. {ECO:0000250 UniProtKB:Q810U4}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NRCAM gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 2
peroxisome 2
nucleus 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NRCAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 8812479
GO:0009897 external side of plasma membrane NAS 8812479
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NRCAM: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NRCAM Gene

Pathways & Interactions for NRCAM Gene

genes like me logo Genes that share pathways with NRCAM: view

Pathways by source for NRCAM Gene

1 Qiagen pathway for NRCAM Gene

Gene Ontology (GO) - Biological Process for NRCAM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001525 angiogenesis IEP 11866539
GO:0001764 neuron migration NAS 11483367
GO:0007155 cell adhesion IEA --
GO:0007409 axonogenesis NAS 8812479
GO:0007411 axon guidance IEA --
genes like me logo Genes that share ontologies with NRCAM: view

No data available for SIGNOR curated interactions for NRCAM Gene

Drugs & Compounds for NRCAM Gene

(2) Drugs for NRCAM Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for NRCAM Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NRCAM: view

Transcripts for NRCAM Gene

Unigene Clusters for NRCAM Gene

Neuronal cell adhesion molecule:
Representative Sequences:

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NRCAM Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25a · 25b ^
SP1: -
SP2:
SP3:

ExUns: 26 ^ 27 ^ 28 ^ 29a · 29b
SP1: - -
SP2: - -
SP3:

Relevant External Links for NRCAM Gene

GeneLoc Exon Structure for
NRCAM
ECgene alternative splicing isoforms for
NRCAM

Expression for NRCAM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NRCAM Gene

mRNA differential expression in normal tissues according to GTEx for NRCAM Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x6.7), Brain - Anterior cingulate cortex (BA24) (x6.1), Brain - Cortex (x4.6), and Brain - Amygdala (x4.2).

Protein differential expression in normal tissues from HIPED for NRCAM Gene

This gene is overexpressed in Cerebrospinal fluid (33.8), Brain (7.9), and Frontal cortex (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for NRCAM Gene



NURSA nuclear receptor signaling pathways regulating expression of NRCAM Gene:

NRCAM

SOURCE GeneReport for Unigene cluster for NRCAM Gene:

Hs.21422

mRNA Expression by UniProt/SwissProt for NRCAM Gene:

Q92823-NRCAM_HUMAN
Tissue specificity: Detected in all the examined tissues. In the brain it was detected in the amygdala, caudate nucleus, corpus callosum, hippocampus, hypothalamus, substantia nigra, subthalamic nucleus and thalamus.

Evidence on tissue expression from TISSUES for NRCAM Gene

  • Nervous system(5)
  • Liver(4.2)
  • Bone marrow(4.1)
  • Eye(2.3)
genes like me logo Genes that share expression patterns with NRCAM: view

Primer Products

No data available for Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for NRCAM Gene

Orthologs for NRCAM Gene

This gene was present in the common ancestor of animals.

Orthologs for NRCAM Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NRCAM 34
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia NRCAM 34
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nrcam 34 16 33
  • 88.38 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nrcam 33
  • 88.17 (n)
dog
(Canis familiaris)
Mammalia NRCAM 34
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NRCAM 34
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NRCAM 34
  • 80 (a)
OneToOne
chicken
(Gallus gallus)
Aves NRCAM 34 33
  • 77.44 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NRCAM 34
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nrcam 33
  • 70.59 (n)
zebrafish
(Danio rerio)
Actinopterygii nrcamb 34
  • 72 (a)
OneToMany
nrcama 34 33
  • 63.11 (n)
OneToMany
NRCAM (3 of 3) 34
  • 53 (a)
OneToMany
-- 33
fruit fly
(Drosophila melanogaster)
Insecta Nrg 35 33 34
  • 44.15 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000720 33
  • 43.06 (n)
worm
(Caenorhabditis elegans)
Secernentea lad-2 33 34
  • 44.04 (n)
lad-1 35
  • 28 (a)
Y54G2A.25 35
  • 27 (a)
sax-7 34
  • 26 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
OneToOne
Species where no ortholog for NRCAM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NRCAM Gene

ENSEMBL:
Gene Tree for NRCAM (if available)
TreeFam:
Gene Tree for NRCAM (if available)

Paralogs for NRCAM Gene

Paralogs for NRCAM Gene

genes like me logo Genes that share paralogs with NRCAM: view

Variants for NRCAM Gene

Sequence variations from dbSNP and Humsavar for NRCAM Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
VAR_035528 A breast cancer sample p.His1093Pro
VAR_035529 A breast cancer sample p.Gly1116Val
rs483352709 uncertain-significance, not provided 108,150,061(-) A/C 3_prime_UTR_variant, coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, missense_variant
rs1000007697 -- 108,415,825(-) T/C genic_upstream_transcript_variant, intron_variant
rs1000017132 -- 108,192,555(-) C/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for NRCAM Gene

Variant ID Type Subtype PubMed ID
nsv957052 CNV deletion 24416366
nsv831090 CNV loss 17160897
nsv831089 CNV loss 17160897
nsv5895 CNV insertion 18451855
nsv5894 CNV insertion 18451855
nsv509220 CNV insertion 20534489
nsv365475 CNV deletion 16902084
nsv1112461 CNV deletion 24896259
nsv1109908 CNV deletion 24896259
nsv1075989 CNV deletion 25765185
nsv1030222 CNV gain 25217958
esv3360161 CNV insertion 20981092
esv2761354 CNV gain 21179565
esv2735001 CNV deletion 23290073
esv22031 CNV loss 19812545
esv1781344 CNV insertion 17803354
esv1688012 CNV deletion 17803354
esv1008394 CNV insertion 20482838
dgv6549n100 CNV gain 25217958

Variation tolerance for NRCAM Gene

Residual Variation Intolerance Score: 5.88% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.77; 47.18% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NRCAM Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
NRCAM

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NRCAM Gene

Disorders for NRCAM Gene

MalaCards: The human disease database

(2) MalaCards diseases for NRCAM Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
autism
  • autistic disorder
autism spectrum disorder
  • asd
- elite association - COSMIC cancer census association via MalaCards
Search NRCAM in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NRCAM

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NRCAM: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NRCAM Gene

Publications for NRCAM Gene

  1. Association analysis of the NrCAM gene in autism and in subsets of families with severe obsessive-compulsive or self-stimulatory behaviors. (PMID: 17106428) Sakurai T … Buxbaum JD (Psychiatric genetics 2006) 3 22 44 58
  2. Characterization of a highly conserved human homolog to the chicken neural cell surface protein Bravo/Nr-CAM that maps to chromosome band 7q31. (PMID: 8812479) Lane RP … Dreyer WJ (Genomics 1996) 2 3 4 58
  3. Myocilin mediates myelination in the peripheral nervous system through ErbB2/3 signaling. (PMID: 23897819) Kwon HS … Tomarev SI (The Journal of biological chemistry 2013) 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. A genome-wide association study identifies multiple loci associated with mathematics ability and disability. (PMID: 20039944) Docherty SJ … Plomin R (Genes, brain, and behavior 2010) 3 44 58

Products for NRCAM Gene

Sources for NRCAM Gene

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