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Aliases for NFASC Gene

Aliases for NFASC Gene

  • Neurofascin 2 3
  • KIAA0756 4 6
  • Neurofascin Homolog (Chicken) 2
  • Neurofascin Homolog 3
  • NRCAML 3
  • NF 3

External Ids for NFASC Gene

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. Among its related pathways are L1CAM interactions and L1CAM interactions. GO annotations related to this gene include protein binding involved in heterotypic cell-cell adhesion. An important paralog of this gene is PRTG.

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

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

Genomics for NFASC Gene

Genomic Location for NFASC Gene

204,828,651 bp from pter
205,022,822 bp from pter
194,172 bases
Plus strand

Genomic View for NFASC Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for NFASC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NFASC Gene

Regulatory Elements for NFASC Gene

Proteins for NFASC Gene

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

    Protein Symbol:
    Recommended name:
    Protein Accession:
    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

    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.
    • 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

Proteomics data for NFASC Gene at MOPED

Post-translational modifications for NFASC Gene

  • Modification sites at PhosphoSitePlus
  • Glycosylation at Asn305, Asn409, Asn446, Asn483, Asn752, Asn778, Asn973, and Asn988

No data available for DME Specific Peptides for NFASC Gene

Domains for NFASC Gene

Gene Families for NFASC Gene

  • ISET :Immunoglobulin superfamily / I-set domain containing
  • FN3 :Fibronectin type III domain containing

Protein Domains for NFASC Gene


  • Homophilic adhesion is primarily mediated by the interaction of the second Ig-like domains:
    • O94856
  • Contains 5 fibronectin type-III domains.:
    • O94856
  • Contains 6 Ig-like C2-type (immunoglobulin-like) domains.:
    • O94856
  • Belongs to the immunoglobulin superfamily. L1/neurofascin/NgCAM family.:
    • O94856
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.

Gene Ontology (GO) - Molecular Function for NFASC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 23897819
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:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting 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

Jensen Localization Image for NFASC Gene COMPARTMENTS Subcellular localization image for NFASC gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
endoplasmic reticulum 2
extracellular 1
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:0016021 integral component of membrane IEA --
GO:0030424 axon --
genes like me logo Genes that share ontologies with NFASC: view

Pathways for NFASC Gene

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

Pathways by source 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:0007411 axon guidance TAS --
GO:0007422 peripheral nervous system development ISS --
GO:0019226 transmission of nerve impulse IEA --
GO:0030913 paranodal junction assembly IEA --
genes like me logo Genes that share ontologies with NFASC: view

Compounds for NFASC Gene

(1) HMDB Compounds for NFASC Gene

Compound Synonyms Cas Number PubMed IDs
  • Sodium

(2) Novoseek inferred chemical compound relationships for NFASC Gene

Compound -log(P) Hits PubMed IDs
sodium 36.5 10
tyrosine 0 2
genes like me logo Genes that share compounds with NFASC: view

Transcripts for NFASC Gene

Unigene Clusters for NFASC Gene

Representative Sequences:

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: -
SP5: -
SP7: -
SP8: -

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

Relevant External Links for NFASC Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NFASC Gene

mRNA expression in normal human tissues for NFASC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for NFASC Gene

SOURCE GeneReport for Unigene cluster for NFASC Gene Hs.13349

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

Orthologs for NFASC Gene

This gene was present in the common ancestor of animals.

Orthologs for NFASC Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia NFASC 36
  • 99.25 (n)
  • 99.19 (a)
  • 89 (a)
(Bos Taurus)
Mammalia NFASC 36
  • 83.43 (n)
  • 86.64 (a)
  • 88 (a)
(Canis familiaris)
Mammalia NFASC 36
  • 84.41 (n)
  • 86.73 (a)
  • 88 (a)
(Mus musculus)
Mammalia Nfasc 36
  • 89.19 (n)
  • 95.89 (a)
Nfasc 16
Nfasc 37
  • 96 (a)
(Monodelphis domestica)
Mammalia NFASC 37
  • 73 (a)
(Ornithorhynchus anatinus)
Mammalia NFASC 37
  • 73 (a)
(Rattus norvegicus)
Mammalia Nfasc 36
  • 89.49 (n)
  • 96.05 (a)
(Gallus gallus)
Aves NFASC 36
  • 74.5 (n)
  • 76.58 (a)
  • 68 (a)
(Anolis carolinensis)
Reptilia NFASC 37
  • 67 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia nfasc 36
  • 68.39 (n)
  • 71.91 (a)
(Danio rerio)
Actinopterygii NFASC (1 of 2) 37
  • 46 (a)
nfasca 36
  • 65.48 (n)
  • 66.73 (a)
nfasca 37
  • 56 (a)
fruit fly
(Drosophila melanogaster)
Insecta Nrg 38
  • 32 (a)
(Caenorhabditis elegans)
Secernentea lad-1 38
  • 26 (a)
Species with no ortholog for NFASC:
  • 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

Gene Tree for NFASC (if available)
Gene Tree for NFASC (if available)

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 MAF
rs9194 -- 205,022,642(+) ACACA(C/T)GACCT utr-variant-3-prime
rs10510 -- 205,022,468(+) CCTTC(C/G)TACAT utr-variant-3-prime
rs737017 -- 204,893,993(-) CCAAA(C/T)CTGAA intron-variant
rs750087 -- 204,841,033(+) GCAGG(A/G)CTAAG intron-variant
rs750088 -- 204,841,067(+) ACGTC(C/G)TAACG intron-variant

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

Variant ID Type Subtype PubMed ID
nsv873112 CNV Gain 21882294
esv270254 CNV Insertion 20981092
esv1007437 CNV Deletion 20482838
nsv521899 CNV Loss 19592680
nsv4165 CNV Insertion 18451855

Relevant External Links for NFASC Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)

Disorders for NFASC Gene

(2) University of Copenhagen DISEASES for NFASC Gene

Relevant External Links for NFASC

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with NFASC: view

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

Publications for NFASC Gene

  1. The phosphorylation state of the FIGQY tyrosine of neurofascin determines ankyrin-binding activity and patterns of cell segregation. (PMID: 9371782) Tuvia S. … Bennett V. (Proc. Natl. Acad. Sci. U.S.A. 1997) 3 23
  2. Palmitoylation of neurofascin at a site in the membrane-spanning domain highly conserved among the L1 family of cell adhesion molecules. (PMID: 9572267) Ren Q. … Bennett V. (J. Neurochem. 1998) 3 23
  3. Dissection of complex molecular interactions of neurofascin with axonin-1, F11, and tenascin-R, which promote attachment and neurite formation of tectal cells. (PMID: 9722619) Volkmer H. … Rathjen F.G. (J. Cell Biol. 1998) 3 23
  4. Structural requirements for association of neurofascin with ankyrin. (PMID: 9804856) Zhang X. … Bennett V. (J. Biol. Chem. 1998) 3 23
  5. The neural cell recognition molecule neurofascin interacts with syntenin-1 but not with syntenin-2, both of which reveal self- associating activity. (PMID: 11152476) Koroll M. … Volkmer H. (J. Biol. Chem. 2001) 3 23

Products for NFASC Gene

Sources for NFASC Gene

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