NCAM1 Gene (Protein Coding)

Neural Cell Adhesion Molecule 1

GC11P112961
GIFtS:
45
This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during development and differentiation. The encoded protein has been shown to be involved in development of the nervous system, and for cells involved in the expansion of T cells and dendr... See more...

Aliases for NCAM1 Gene

Aliases for NCAM1 Gene

  • Neural Cell Adhesion Molecule 1 2 3 4 5
  • NCAM 2 3 4
  • CD56 2 3
  • Antigen Recognized By Monoclonal Antibody 5.1H11 3
  • Neural Cell Adhesion Molecule, NCAM 3
  • CD56 Antigen 4
  • N-CAM-1 4
  • NCAM-1 4
  • MSK39 3
  • NCAM1 5

External Ids for NCAM1 Gene

Previous GeneCards Identifiers for NCAM1 Gene

  • GC11P115185
  • GC11P114344
  • GC11P112866
  • GC11P112369
  • GC11P112337
  • GC11P112831
  • GC11P108759

Summaries for NCAM1 Gene

Entrez Gene Summary for NCAM1 Gene

  • This gene encodes a cell adhesion protein which is a member of the immunoglobulin superfamily. The encoded protein is involved in cell-to-cell interactions as well as cell-matrix interactions during development and differentiation. The encoded protein has been shown to be involved in development of the nervous system, and for cells involved in the expansion of T cells and dendritic cells which play an important role in immune surveillance. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2011]

GeneCards Summary for NCAM1 Gene

NCAM1 (Neural Cell Adhesion Molecule 1) is a Protein Coding gene. Diseases associated with NCAM1 include Rabies and Bile Duct Cancer. Among its related pathways are Neuroscience and RET signaling. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is NCAM2.

UniProtKB/Swiss-Prot Summary for NCAM1 Gene

  • This protein is a cell adhesion molecule involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc.
  • (Microbial infection) Acts as a receptor for rabies virus.

Tocris Summary for NCAM1 Gene

  • Cell adhesion molecules (CAMs) are a large family of transmembrane proteins that are involved in the binding of a cell to another cell or to the extracellular matrix. They have roles in cell proliferation, differentiation, motility, trafficking, apoptosis and tissue architecture.

Gene Wiki entry for NCAM1 Gene

Additional gene information for NCAM1 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NCAM1 Gene

Genomics for NCAM1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for NCAM1 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
GH11J112960 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 625.4 +1.6 1632 4.2 ZNF221 PRDM10 ZNF629 KDM1A ZNF692 ZNF174 PRDM1 ZIC2 ZSCAN4 PKNOX1 NCAM1 LOC101928847 ENSG00000270179 NKAPD1 ZW10 TTC12 NCAM1-AS1
GH11J112881 Promoter/Enhancer 1.2 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 18.8 -78.7 -78724 3 SP2 PKNOX1 POLR2A RCOR1 RFX5 CHD2 TAF1 NFYC SP1 GATA2 piR-51616 NCAM1 LOC101928847 RNU7-187P ENSG00000288070 PLET1
GH11J112073 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 10.1 -886.8 -886802 2.7 SP1 CREB1 GATAD2A PRDM10 ZNF629 TFE3 RFX1 SIX5 LEF1 IKZF1 NKAPD1 PIH1D2 lnc-TIMM8B-1 ALG9 PPP2R1B ENSG00000254638 BCO2 NCAM1 SDHD SIK2
GH11J113183 Enhancer 1.3 FANTOM5 Ensembl ENCODE dbSUPER 15.1 +222.5 222454 3.4 ATF7 TFE3 CEBPA CEBPB FOS JUN CREB1 JUND MAX CUX1 NCAM1 NCAM1-AS1 HSALNG0087231 TTC12
GH11J113187 Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 10.1 +229.6 229554 8.4 CREB1 ATF7 PRDM10 ZNF512 LEF1 IKZF1 JUND PRDM1 ZSCAN4 DPF2 NCAM1-AS1 NCAM1 HSALNG0087231 TTC12
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NCAM1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NCAM1

Top Transcription factor binding sites by QIAGEN in the NCAM1 gene promoter:
  • AML1a

Genomic Locations for NCAM1 Gene

Genomic Locations for NCAM1 Gene
chr11:112,961,247-113,278,436
(GRCh38/hg38)
Size:
317,190 bases
Orientation:
Plus strand
chr11:112,831,969-113,149,158
(GRCh37/hg19)
Size:
317,190 bases
Orientation:
Plus strand

Genomic View for NCAM1 Gene

Genes around NCAM1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NCAM1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NCAM1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NCAM1 Gene

Proteins for NCAM1 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for NCAM1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13591-NCAM1_HUMAN
    Recommended name:
    Neural cell adhesion molecule 1
    Protein Accession:
    P13591
    Secondary Accessions:
    • A8K8T8
    • P13592
    • P13593
    • Q05C58
    • Q15829
    • Q16180
    • Q16209
    • Q59FL7
    • Q86X47
    • Q96CJ3

    Protein attributes for NCAM1 Gene

    Size:
    858 amino acids
    Molecular mass:
    94574 Da
    Quaternary structure:
    • (Microbial infection) Interacts with rabies virus glycoprotein.
    • Interacts with MDK.
    SequenceCaution:
    • Sequence=BAD92680.1; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};
    Miscellaneous:
    • [Isoform 5]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Three dimensional structures from OCA and Proteopedia for NCAM1 Gene

    Alternative splice isoforms for NCAM1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NCAM1 Gene

Protein Expression for NCAM1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NCAM1 Gene

  • Glycosylation at Thr125, Asn222, Asn315, Asn347, Asn433, Asn459, and Asn488
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • NCAM1_HUMAN (1545)

Other Protein References for NCAM1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for NCAM1 Gene

Domains & Families for NCAM1 Gene

Gene Families for NCAM1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • CD markers
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for NCAM1 Gene

InterPro:
Blocks:
  • Immunoglobulin C-2 type
  • Immunoglobulin I-set
  • Neural cell adhesion molecule signature
ProtoNet:

Suggested Antigen Peptide Sequences for NCAM1 Gene

GenScript: Design optimal peptide antigens:
  • Neural cell adhesion molecule 1 (NCAM1_HUMAN)
genes like me logo Genes that share domains with NCAM1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NCAM1 Gene

Function for NCAM1 Gene

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  2. CRISPR
  3. miRNA
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  6. Cell Line

Molecular function for NCAM1 Gene

UniProtKB/Swiss-Prot Function:
This protein is a cell adhesion molecule involved in neuron-neuron adhesion, neurite fasciculation, outgrowth of neurites, etc.
UniProtKB/Swiss-Prot Function:
(Microbial infection) Acts as a receptor for rabies virus.
GENATLAS Biochemistry:
cell adhesion molecule,neural,1,immunoglobulin superfamily

Phenotypes From GWAS Catalog for NCAM1 Gene

Gene Ontology (GO) - Molecular Function for NCAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001618 virus receptor activity IEA --
GO:0005515 protein binding IEA --
genes like me logo Genes that share ontologies with NCAM1: view
genes like me logo Genes that share phenotypes with NCAM1: view

Animal Models for NCAM1 Gene

MGI Knock Outs for NCAM1:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NCAM1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NCAM1 Gene

Localization for NCAM1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NCAM1 Gene

[Isoform 1]: Cell membrane. Single-pass type I membrane protein.
[Isoform 2]: Cell membrane. Single-pass type I membrane protein.
[Isoform 3]: Cell membrane. Lipid-anchor, GPI-anchor.
[Isoform 4]: Cell membrane. Lipid-anchor, GPI-anchor.
[Isoform 5]: Secreted.
[Isoform 6]: Secreted.

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 NCAM1 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
golgi apparatus 4
cytoskeleton 3
nucleus 3
mitochondrion 2
endoplasmic reticulum 2
endosome 2
lysosome 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NCAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005576 extracellular region IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA,TAS --
GO:0009897 external side of plasma membrane IDA 17213291
genes like me logo Genes that share ontologies with NCAM1: view

Pathways & Interactions for NCAM1 Gene

PathCards logo

SuperPathways for NCAM1 Gene

SuperPathway Contained pathways
1 RET signaling
Frs2-mediated activation
.95
GRB2 events in EGFR signaling
.95
MAPK1/MAPK3 signaling
.95
Prolonged ERK activation events
.95
RAF/MAP kinase cascade
.95
SHC1 events in EGFR signaling
.95
Signaling by Leptin
.95
SOS-mediated signalling
.95
VEGFR2 mediated cell proliferation
.95
ARMS-mediated activation
.95
Signalling to ERKs
.95
Signalling to p38 via RIT and RIN
.95
Signalling to RAS
.95
Interleukin receptor SHC signaling
.95
Interleukin-3, 5 and GM-CSF signaling
.94
Interleukin-2 signaling
.94
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
RET signaling
.92
Insulin receptor signalling cascade
.92
Signaling by Insulin receptor
.92
IRS-mediated signalling
.91
Signaling by EGFR
.90
FCERI mediated MAPK activation
.90
IGF1R signaling cascade
.90
IRS-related events triggered by IGF1R
.90
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
.90
DAP12 interactions
.89
NCAM signaling for neurite out-growth
.89
NGF signalling via TRKA from the plasma membrane
.87
MAPK family signaling cascades
.87
Signaling by SCF-KIT
.85
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
Gastrin-CREB signalling pathway via PKC and MAPK
.55
2 Developmental Biology
Axon guidance
.51
Developmental Biology
.51
3 Cytokine Signaling in Immune system
Cytokine Signaling in Immune system
.69
Signaling by Interleukins
.69
4 Innate Immune System
Immune System
.61
Innate Immune System
.61
5 Interferon gamma signaling
Interferon gamma signaling
.47
Interferon Signaling
.47
genes like me logo Genes that share pathways with NCAM1: view

SIGNOR curated interactions for NCAM1 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for NCAM1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0007155 cell adhesion IEA --
GO:0007411 axon guidance TAS --
GO:0016032 viral process IEA --
GO:0046718 viral entry into host cell IEA --
genes like me logo Genes that share ontologies with NCAM1: view

Drugs & Compounds for NCAM1 Gene

Products:

  1. Drug

(35) Drugs for NCAM1 Gene - From: PharmGKB, ApexBio, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
duloxetine Approved Pharma Antagonist 0
Thiolutin Pharma RNA polymerase inhibitor,antibiotic 0
LORVOTUZUMAB Pharma 0

(30) Additional Compounds for NCAM1 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Ac2-12
256447-08-2
Ac2-26
151988-33-9
Heparin sodium salt
9041-08-1
KF 38789
257292-29-8
PM 102
1234564-95-4

(5) Tocris Compounds for NCAM1 Gene

Compound Action Cas Number
Ac2-12 Annexin/lipocortin 1-mimetic; inhibits leukocyte extravasation 256447-08-2
Ac2-26 Annexin/lipocortin 1-mimetic; inhibits leukocyte extravasation 151988-33-9
Heparin sodium salt Anticoagulant 9041-08-1
KF 38789 Selective inhibitor of P-selectin-mediated cell adhesion 257292-29-8
PM 102 Antagonist of heparin (Cat. No. 2812) 1234564-95-4

(1) ApexBio Compounds for NCAM1 Gene

Compound Action Cas Number
Thiolutin RNA polymerase inhibitor,antibiotic 1987-11-6
genes like me logo Genes that share compounds with NCAM1: view

Transcripts for NCAM1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for NCAM1 Gene

5 REFSEQ mRNAs :
28 NCBI additional mRNA sequence :
30 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NCAM1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for NCAM1 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20
SP1: - - - - -
SP2: - -
SP3:
SP4:
SP5:

Relevant External Links for NCAM1 Gene

GeneLoc Exon Structure for
NCAM1

Expression for NCAM1 Gene

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  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NCAM1 Gene

mRNA expression in normal human tissues for NCAM1 Gene
mRNA expression by GTEx for NCAM1 GenemRNA expression by BioGPS for NCAM1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NCAM1 Gene

This gene is overexpressed in Fetal Brain (17.6), Frontal cortex (11.4), Retina (11.0), and Brain (10.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NCAM1 Gene



Protein tissue co-expression partners for NCAM1 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NCAM1

SOURCE GeneReport for Unigene cluster for NCAM1 Gene:

Hs.503878

Evidence on tissue expression from TISSUES for NCAM1 Gene

  • Nervous system(5)
  • Muscle(4.7)
  • Bone marrow(4.6)
  • Liver(4.6)
  • Kidney(4.6)
  • Blood(3.9)
  • Heart(3.5)
  • Spleen(3.2)
  • Eye(3.2)
  • Lymph node(3.2)
  • Lung(3.2)
  • Adrenal gland(3.2)
  • Intestine(3)
  • Thyroid gland(3)
  • Skin(2.8)
  • Pancreas(2.6)
  • Stomach(2.6)
  • Bone(2.3)
  • Gall bladder(2.3)
  • Urine(2.1)
genes like me logo Genes that share expression patterns with NCAM1: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NCAM1 Gene

Orthologs for NCAM1 Gene

This gene was present in the common ancestor of animals.

Orthologs for NCAM1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia NCAM1 30 31
  • 99.51 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia NCAM1 30 31
  • 92.42 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia NCAM1 30 31
  • 91.72 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Ncam1 30 17 31
  • 89.27 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ncam1 30
  • 89.19 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 81 (a)
 OneToMany
-- 31
  • 80 (a)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia NCAM1 31
  • 66 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves NCAM1 30 31
  • 81.84 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia NCAM1 31
  • 64 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ncam1 30
  • 70.66 (n)
African clawed frog
(Xenopus laevis)
 Amphibia NCAM 30
Zebrafish
(Danio rerio)
 Actinopterygii ncam1a 30 31
  • 68.35 (n)
 OneToMany
ncam1b 31
  • 49 (a)
 OneToMany
-- 30
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP002802 30
  • 44.49 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta Fas2 30 31 32
  • 43.13 (n)
 ManyToMany
CG33543 31
  • 21 (a)
 ManyToMany
CG15630 31
  • 21 (a)
 ManyToMany
Worm
(Caenorhabditis elegans)
 Secernentea ncam-1 30 31
  • 41.33 (n)
 OneToMany
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 26 (a)
 OneToMany
Species where no ortholog for NCAM1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 Vase (Ciona intestinalis)
  • 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 NCAM1 Gene

ENSEMBL:
Gene Tree for NCAM1 (if available)
TreeFam:
Gene Tree for NCAM1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NCAM1: view image

Paralogs for NCAM1 Gene

Paralogs for NCAM1 Gene

(5) SIMAP similar genes for NCAM1 Gene using alignment to 7 proteins:

  • NCAM1_HUMAN
  • H7BYX6_HUMAN
  • L8EBH1_HUMAN
  • L8ECP3_HUMAN
  • R4GMN9_HUMAN
  • S4R389_HUMAN
  • S4R3Z6_HUMAN
genes like me logo Genes that share paralogs with NCAM1: view

Variants for NCAM1 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NCAM1 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
770406 Benign: not provided 113,207,325(+) C/T SYNONYMOUS_VARIANT
rs17115160 - p.Asp260Asn
rs17115280 - p.Glu679Asp
rs17174409 - p.Thr834Met
rs7105734 - p.Leu7Phe

Additional dbSNP identifiers (rs#s) for NCAM1 Gene

Structural Variations from Database of Genomic Variants (DGV) for NCAM1 Gene

Variant ID Type Subtype PubMed ID
dgv1279n100 CNV loss 25217958
esv24924 CNV loss 19812545
esv2664094 CNV deletion 23128226
esv2745085 CNV deletion 23290073
esv3548358 CNV deletion 23714750
esv3627771 CNV loss 21293372
esv3627772 CNV loss 21293372
esv3627773 CNV gain 21293372
esv3627774 CNV loss 21293372
esv3627775 CNV loss 21293372
nsv1038796 CNV gain 25217958
nsv468870 CNV loss 19166990
nsv483080 CNV loss 15286789
nsv515828 CNV loss 19592680
nsv516224 CNV loss 19592680
nsv526604 CNV loss 19592680
nsv556442 CNV loss 21841781
nsv556443 CNV loss 21841781
nsv832271 CNV gain 17160897
nsv832272 CNV gain 17160897
nsv951071 CNV duplication 24416366

Variation tolerance for NCAM1 Gene

Gene Damage Index Score: 7.28; 81.29% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NCAM1 Gene

Human Gene Mutation Database (HGMD)
NCAM1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NCAM1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NCAM1 Gene

Disorders for NCAM1 Gene

MalaCards: The human disease database

(148) MalaCards diseases for NCAM1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
rabies
  • lyssa
bile duct cancer
  • bile duct tumor
plasma cell leukemia
  • pcl
merkel cell carcinoma
  • trabecular adenocarcinoma
large cell neuroendocrine carcinoma
- elite association - COSMIC cancer census association via MalaCards
Search NCAM1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NCAM1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with NCAM1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NCAM1 Gene

Publications for NCAM1 Gene

  1. Molecular and functional analysis of human natural killer cell-associated neural cell adhesion molecule (N-CAM/CD56). (PMID: 1710251) Lanier LL … Phillips JH (Journal of immunology (Baltimore, Md. : 1950) 1991) 3 4 23
  2. Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. (PMID: 21116278) Furney SJ … AddNeuroMed Consortium (Molecular psychiatry 2011) 3 41
  3. Genetic variation in NCAM1 contributes to left ventricular wall thickness in hypertensive families. (PMID: 21212386) Arnett DK … Kardia SL (Circulation research 2011) 3 41
  4. Altered NCAM expression associated with the cholinergic system in Alzheimer's disease. (PMID: 20164549) Aisa B … Ramírez MJ (Journal of Alzheimer's disease : JAD 2010) 3 23
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41

ExternalLinks

View latest publications for NCAM1 gene in Mastermind

Products for NCAM1 Gene