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Aliases for NFASC Gene

Aliases for NFASC Gene

  • Neurofascin 2 3 3 5
  • Neurofascin Homolog (Chicken) 2
  • Neurofascin Homolog 3
  • KIAA0756 4
  • NRCAML 3
  • NF 3

External Ids for NFASC Gene

Previous GeneCards Identifiers for NFASC Gene

  • GC01P202615
  • GC01P200351
  • GC01P201158
  • GC01P202067
  • GC01P201645
  • GC01P203064
  • GC01P175963

Summaries for NFASC Gene

Entrez Gene Summary for NFASC Gene

  • This gene encodes an L1 family immunoglobulin cell adhesion molecule with multiple IGcam and fibronectin domains. The protein functions in neurite outgrowth, neurite fasciculation, and organization of the axon initial segment (AIS) and nodes of Ranvier on axons during early development. Both the AIS and nodes of Ranvier contain high densities of voltage-gated Na+ (Nav) channels which are clustered by interactions with cytoskeletal and scaffolding proteins including this protein, gliomedin, ankyrin 3 (ankyrin-G), and betaIV spectrin. This protein links the AIS extracellular matrix to the intracellular cytoskeleton. This gene undergoes extensive alternative splicing, and the full-length nature of some variants has not been determined.[provided by RefSeq, May 2009]

GeneCards Summary for NFASC Gene

NFASC (Neurofascin) is a Protein Coding gene. Diseases associated with NFASC include Demyelinating Polyneuropathy and Autoimmune Neuropathy. Among its related pathways are Cell adhesion molecules (CAMs) and Interaction between L1 and Ankyrins. GO annotations related to this gene include protein binding involved in heterotypic cell-cell adhesion. An important paralog of this gene is NRCAM.

UniProtKB/Swiss-Prot for NFASC Gene

  • Cell adhesion, ankyrin-binding protein which may be involved in neurite extension, axonal guidance, synaptogenesis, myelination and neuron-glial cell interactions.

Gene Wiki entry for NFASC Gene

Additional gene information for NFASC Gene

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

Genomics for NFASC Gene

Regulatory Elements for NFASC Gene

Enhancers for NFASC Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H204511 2 FANTOM5 Ensembl ENCODE dbSUPER 12.9 -311.6 -311571 11 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 MDM4 ZC3H11A SNRPE ZBED6 PPP1R15B PIK3C2B LOC101929459 ENSG00000236108 NFASC SNRPGP10
GH01H204806 1.3 Ensembl ENCODE 19.1 -21.5 -21532 1 HDGF ATF1 ARNT ZNF133 ARID4B SIN3A ZNF2 ZBTB7B YY1 ZNF207 NFASC LRRN2 GC01P204728
GH01H204856 0.9 dbSUPER 27.5 +30.4 30434 4 HDAC1 PKNOX1 ATF1 TBL1XR1 BMI1 TCF12 ZNF766 GATA2 ELK1 EGR1 NFASC CNTN2 RPL13AP11
GH01H204957 0.9 dbSUPER 24.7 +133.3 133260 7 HDAC1 ATF1 ZNF766 SCRT2 ZNF548 ATF7 CEBPB REST ZEB2 HDAC8 NFASC ELK4 MDM4 CNTN2 TMEM81 ENSG00000240710 PPP1R15B LRRN2 RPL13AP11 GC01P205019
GH01H204971 1.3 Ensembl ENCODE dbSUPER 16 +143.3 143281 1 PKNOX1 ATF1 TCF12 GATA2 FOS CREM ZBTB11 ZEB2 MBD2 SMARCA4 CNTN2 MDM4 NFASC ELK4 PPP1R15B LOC100420878 DSTYK RPL13AP11 GC01P205019
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NFASC on UCSC Golden Path with GeneCards custom track

Promoters for NFASC Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000018686 149 801 CTCF MXI1 RB1 NFIB ZNF175 ZKSCAN1 ZNF664 E2F1 ZNF766 CTBP1

Genomic Location for NFASC Gene

Chromosome:
1
Start:
204,828,651 bp from pter
End:
205,022,822 bp from pter
Size:
194,172 bases
Orientation:
Plus strand

Genomic View for NFASC Gene

Genes around NFASC on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for NFASC Gene

Proteins for NFASC Gene

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

    Protein Symbol:
    O94856-NFASC_HUMAN
    Recommended name:
    Neurofascin
    Protein Accession:
    O94856
    Secondary Accessions:
    • B2RNN8
    • B3KQZ1
    • B5MDP6
    • B5MDR6
    • B7ZMD8
    • Q149P5
    • Q5T2F0
    • Q5T2F1
    • Q5T2F2
    • Q5T2F3
    • Q5T2F4
    • Q5T2F5
    • Q5T2F6
    • Q5T2F7
    • Q5T2F9
    • Q5T2G0
    • Q5W9F8
    • Q68DH3
    • Q6ZQV6
    • Q7Z3K1
    • Q96HT1
    • Q96K50

    Protein attributes for NFASC Gene

    Size:
    1347 amino acids
    Molecular mass:
    150027 Da
    Quaternary structure:
    • Horseshoe-shaped homodimer. Probable constituent of a neurofascin/NRCAM/ankyrin-G complex. Associates with the sodium channel beta-1 (SCN1B) and beta-3 (SCN3B) subunits. Interacts with GLDN/gliomedin (By similarity). Interacts with MYOC.
    SequenceCaution:
    • Sequence=BAA34476.3; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAB55195.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAC87577.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for NFASC Gene

    Alternative splice isoforms for NFASC Gene

neXtProt entry for NFASC Gene

Post-translational modifications for NFASC Gene

  • Glycosylation at posLast=305305, Asn409, posLast=446446, Asn483, Asn752, Asn778, Asn973, and posLast=988988
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NFASC (neurofascin)

No data available for DME Specific Peptides for NFASC Gene

Domains & Families for NFASC Gene

Gene Families for NFASC Gene

Suggested Antigen Peptide Sequences for NFASC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O94856

UniProtKB/Swiss-Prot:

NFASC_HUMAN :
  • Homophilic adhesion is primarily mediated by the interaction of the second Ig-like domains.
  • Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.
Domain:
  • Homophilic adhesion is primarily mediated by the interaction of the second Ig-like domains.
Family:
  • Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.
genes like me logo Genes that share domains with NFASC: view

Function for NFASC Gene

Molecular function for NFASC Gene

UniProtKB/Swiss-Prot Function:
Cell adhesion, ankyrin-binding protein which may be involved in neurite extension, axonal guidance, synaptogenesis, myelination and neuron-glial cell interactions.

Phenotypes From GWAS Catalog for NFASC Gene

Gene Ontology (GO) - Molecular Function for NFASC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23897819
GO:0019904 protein domain specific binding IEA --
GO:0086080 protein binding involved in heterotypic cell-cell adhesion IEA --
genes like me logo Genes that share ontologies with NFASC: view
genes like me logo Genes that share phenotypes with NFASC: view

Animal Models for NFASC Gene

MGI Knock Outs for NFASC:

Animal Model Products

  • Taconic Biosciences Mouse Models for NFASC

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for NFASC
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

Localization for NFASC Gene

Subcellular locations from UniProtKB/Swiss-Prot for NFASC Gene

Cell membrane; Single-pass type I membrane protein.

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 NFASC gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytoskeleton 2
endoplasmic reticulum 2
lysosome 1

Gene Ontology (GO) - Cellular Components for NFASC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular ISS --
GO:0005886 plasma membrane TAS --
GO:0005925 focal adhesion IDA 21423176
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with NFASC: view

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

Pathways & Interactions for NFASC Gene

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

Pathways by source for NFASC Gene

1 Cell Signaling Technology pathway for NFASC Gene
1 KEGG pathway for NFASC Gene

Gene Ontology (GO) - Biological Process for NFASC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002175 protein localization to paranode region of axon IEA --
GO:0007155 cell adhesion IEA --
GO:0007411 axon guidance IEA --
GO:0007422 peripheral nervous system development ISS --
GO:0019226 transmission of nerve impulse IEA --
genes like me logo Genes that share ontologies with NFASC: view

No data available for SIGNOR curated interactions for NFASC Gene

Drugs & Compounds for NFASC Gene

(1) Drugs for NFASC Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for NFASC Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with NFASC: view

Transcripts for NFASC Gene

Unigene Clusters for NFASC Gene

Neurofascin:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials Clones for NFASC
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b · 19c · 19d ^ 20a ·
SP1: - -
SP2: - -
SP3: -
SP4:
SP5: -
SP6:
SP7: -
SP8: -
SP9:
SP10:
SP11:

ExUns: 20b ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24a · 24b ^ 25 ^ 26 ^ 27 ^ 28 ^ 29a · 29b · 29c · 29d
SP1: - - - - - -
SP2: -
SP3:
SP4: - - - -
SP5: - - - - - - -
SP6: - -
SP7: - - -
SP8:
SP9:
SP10:
SP11:

Relevant External Links for NFASC Gene

GeneLoc Exon Structure for
NFASC
ECgene alternative splicing isoforms for
NFASC

Expression for NFASC Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NFASC Gene

This gene is overexpressed in Frontal cortex (27.2), Brain (26.5), and Spinal cord (10.2).

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



Protein tissue co-expression partners for NFASC Gene

NURSA nuclear receptor signaling pathways regulating expression of NFASC Gene:

NFASC

SOURCE GeneReport for Unigene cluster for NFASC Gene:

Hs.13349

Evidence on tissue expression from TISSUES for NFASC Gene

  • Nervous system(5)
  • Eye(2.4)
genes like me logo Genes that share expression patterns with NFASC: view

Primer Products

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 NFASC Gene

Orthologs for NFASC Gene

This gene was present in the common ancestor of animals.

Orthologs for NFASC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NFASC 34 33
  • 99.25 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nfasc 33
  • 89.49 (n)
mouse
(Mus musculus)
Mammalia Nfasc 34 16 33
  • 89.19 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NFASC 34 33
  • 84.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NFASC 34 33
  • 83.43 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NFASC 34
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NFASC 34
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves NFASC 34 33
  • 74.5 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NFASC 34
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nfasc 33
  • 68.39 (n)
zebrafish
(Danio rerio)
Actinopterygii nfasca 34 33
  • 65.48 (n)
OneToMany
NFASC (1 of 2) 34
  • 46 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Nrg 35
  • 32 (a)
worm
(Caenorhabditis elegans)
Secernentea lad-1 35
  • 26 (a)
Species where no ortholog for NFASC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 NFASC Gene

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

Paralogs for NFASC Gene

Paralogs for NFASC Gene

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

Variants for NFASC Gene

Sequence variations from dbSNP and Humsavar for NFASC Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000002563 -- 204,896,484(+) ACCCA(C/T)AAGTA intron-variant
rs1000046872 -- 204,943,063(+) AGTGG(A/G)CTTCA intron-variant, upstream-variant-2KB
rs1000061129 -- 204,858,616(+) CAGGG(A/T)CTCCT intron-variant
rs1000071058 -- 204,932,169(+) ATAAA(G/T)GTCTT intron-variant
rs1000085741 -- 205,013,359(+) CAGGT(C/T)GTTTC intron-variant

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

Variant ID Type Subtype PubMed ID
esv1007437 CNV deletion 20482838
esv3305977 CNV mobile element insertion 20981092
esv3376336 CNV insertion 20981092
esv3588627 CNV gain 21293372
nsv1003949 CNV gain 25217958
nsv1004125 CNV gain 25217958
nsv1127054 CNV deletion 24896259
nsv4165 CNV insertion 18451855
nsv521899 CNV loss 19592680
nsv549041 CNV loss 21841781
nsv999463 CNV gain 25217958

Variation tolerance for NFASC Gene

Residual Variation Intolerance Score: 3.39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.54; 88.88% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NFASC Gene

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

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

Disorders for NFASC Gene

MalaCards: The human disease database

(4) MalaCards diseases for NFASC Gene - From: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
demyelinating polyneuropathy
  • peripheral demyelinating neuropathy
autoimmune neuropathy
autoimmune disease of central nervous system
chronic inflammatory demyelinating polyneuropathy
  • chronic inflammatory demyelinating polyradiculoneuropathy
- elite association - COSMIC cancer census association via MalaCards
Search NFASC in MalaCards View complete list of genes associated with diseases

Relevant External Links for NFASC

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

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

Publications for NFASC Gene

  1. 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 60
  2. Homophilic adhesion mechanism of neurofascin, a member of the L1 family of neural cell adhesion molecules. (PMID: 21047790) Liu H … He X (The Journal of biological chemistry 2011) 3 4 60
  3. 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 45 60
  4. Dengue hemorrhagic fever is associated with polymorphisms in JAK1. (PMID: 20588308) Silva LK … Teixeira MG (European journal of human genetics : EJHG 2010) 3 45 60
  5. Novel forms of neurofascin 155 in the central nervous system: alterations in paranodal disruption models and multiple sclerosis. (PMID: 20129933) Pomicter AD … Dupree JL (Brain : a journal of neurology 2010) 3 22 60

Products for NFASC Gene

Sources for NFASC Gene

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