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Aliases for NFASC Gene

Aliases for NFASC Gene

  • Neurofascin 2 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 Hyperkalemic Periodic Paralysis, Type 2 and Familial Periodic Paralysis. Among its related pathways are L1CAM interactions and Developmental Biology. GO annotations related to this gene include protein binding involved in heterotypic cell-cell adhesion. An important paralog of this gene is DSCAML1.

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

Regulatory Elements for NFASC Gene

Enhancers for NFASC Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

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

ENSRs around NFASC on UCSC Golden Path with GeneCards custom track

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

Proteomics data for NFASC Gene at MOPED

Post-translational modifications for NFASC Gene

  • Glycosylation at Asn 305, Asn 409, Asn 446, Asn 483, Asn 752, Asn 778, Asn 973, and Asn 988
  • 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

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.
  • Contains 5 fibronectin type-III domains.
  • Contains 6 Ig-like C2-type (immunoglobulin-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.
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

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , 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
Jensen Localization Image for NFASC Gene COMPARTMENTS Subcellular localization image for NFASC gene
Compartment Confidence
extracellular 5
plasma membrane 5
endoplasmic reticulum 2
cytoskeleton 1
lysosome 1
vacuole 1

Gene Ontology (GO) - Cellular Components for NFASC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005925 focal adhesion IDA 21423176
GO:0033270 paranode region of axon IEA --
GO:0043194 axon initial segment ISS --
GO:0043209 myelin sheath IEA --
GO:0070062 extracellular exosome IDA 23376485
genes like me logo Genes that share ontologies with NFASC: view

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:0050808 synapse organization IEA --
GO:0071205 protein localization to juxtaparanode region of axon IEA --
GO:0072661 protein targeting to plasma membrane 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:

Flow Cytometry Products

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 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, MOPED, and MaxQB for NFASC Gene



SOURCE GeneReport for Unigene cluster for NFASC Gene Hs.13349

genes like me logo Genes that share expression patterns with NFASC: view

Protein tissue co-expression partners for NFASC Gene

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt 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
cow
(Bos Taurus)
Mammalia NFASC 35
  • 83.43 (n)
  • 86.64 (a)
NFASC 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NFASC 35
  • 84.41 (n)
  • 86.73 (a)
NFASC 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Nfasc 35
  • 89.19 (n)
  • 95.89 (a)
Nfasc 16
Nfasc 36
  • 96 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NFASC 35
  • 99.25 (n)
  • 99.19 (a)
NFASC 36
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Nfasc 35
  • 89.49 (n)
  • 96.05 (a)
oppossum
(Monodelphis domestica)
Mammalia NFASC 36
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia NFASC 36
  • 73 (a)
OneToOne
chicken
(Gallus gallus)
Aves NFASC 35
  • 74.5 (n)
  • 76.58 (a)
NFASC 36
  • 68 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NFASC 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia nfasc 35
  • 68.39 (n)
  • 71.91 (a)
zebrafish
(Danio rerio)
Actinopterygii nfasca 35
  • 65.48 (n)
  • 66.73 (a)
NFASC (1 of 2) 36
  • 46 (a)
OneToMany
nfasca 36
  • 56 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Nrg 37
  • 32 (a)
worm
(Caenorhabditis elegans)
Secernentea lad-1 37
  • 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

ENSEMBL:
Gene Tree for NFASC (if available)
TreeFam:
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
rs3795564 - 204,954,892(-) GGAGC(A/G)TCAAA nc-transcript-variant, reference, missense
rs9194 -- 205,022,642(+) ACACA(C/T)GACCT utr-variant-3-prime
rs10510 -- 205,022,468(+) CCTTC(C/G)TACAT utr-variant-3-prime
rs881399 -- 204,959,694(+) TTCTG(C/T)CATCC intron-variant
rs737017 -- 204,893,993(-) CCAAA(C/T)CTGAA 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

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

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

Disorders for NFASC Gene

MalaCards: The human disease database

(3) MalaCards diseases for NFASC Gene - From: DISEASES

Disorder Aliases PubMed IDs
hyperkalemic periodic paralysis, type 2
  • hyperkalemic periodic paralysis
familial periodic paralysis
  • paralyses, familial periodic
peripheral nervous system disease
  • peripheral neuropathy
- 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 H.S. … Tomarev S.I. (J. Biol. Chem. 2013) 3 4 67
  2. Novel forms of neurofascin 155 in the central nervous system: alterations in paranodal disruption models and multiple sclerosis. (PMID: 20129933) Pomicter A.D. … Dupree J.L. (Brain 2010) 3 23
  3. Neurofascin as a novel target for autoantibody-mediated axonal injury. (PMID: 17846150) Mathey E.K. … Linington C. (J. Exp. Med. 2007) 3 23
  4. Cell adhesion and neurite outgrowth are promoted by neurofascin NF155 and inhibited by NF186. (PMID: 16061393) Koticha D. … Grumet M. (Mol. Cell. Neurosci. 2005) 3 23
  5. A new activity of doublecortin in recognition of the phospho-FIGQY tyrosine in the cytoplasmic domain of neurofascin. (PMID: 12223548) Kizhatil K. … Bennett V. (J. Neurosci. 2002) 3 23

Products for NFASC Gene

Sources for NFASC Gene

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