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... See more...

Aliases for NFASC Gene

Aliases for NFASC Gene

  • Neurofascin 2 3 4 5
  • KIAA0756 2 4
  • NRCAML 2 3
  • NF 2 3
  • Neurofascin Homolog (Chicken) 2
  • Neurofascin Isoform 140 3
  • Neurofascin Homolog 3
  • FLJ46866 2
  • NEDCPMD 3
  • NFASC 5

External Ids for NFASC Gene

Previous GeneCards Identifiers for NFASC Gene

  • GC01P202615
  • GC01P200351
  • GC01P201158
  • GC01P202067
  • GC01P201645
  • GC01P203064
  • GC01P204797
  • 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 Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction and Demyelinating Polyneuropathy. Among its related pathways are Neuroscience and L1CAM interactions. Gene Ontology (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 Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NFASC Gene

Genomics for NFASC Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NFASC 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
GH01J204828 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE dbSUPER 615.9 +0.8 750 2.4 POLR2A REST ZNF561 NONO RAD21 CTCF UBTF ZNF766 CTBP1 ZKSCAN1 NFASC ENSG00000287197 SNRPE piR-48759-024 CNTN2
GH01J204927 Promoter/Enhancer 1.3 EPDnew Ensembl ENCODE dbSUPER 600.1 +100.5 100450 3.8 ZIC2 SCRT2 HMBOX1 NFE2 OSR2 ZFHX2 ZNF189 PRDM10 GLIS1 SMARCA4 NFASC piR-57138-015 RPL13AP11 CNTN2
GH01J204871 Promoter/Enhancer 0.8 EPDnew Ensembl dbSUPER 610.5 +42.3 42250 0.6 NFASC piR-48759-024 ENSG00000287197 CNTN2
GH01J204944 Promoter/Enhancer 0.5 EPDnew dbSUPER 600.1 +115.6 115582 0.1 NFASC RPL13AP11 piR-57138-015 CNTN2
GH01J204511 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.9 -311.6 -311571 11.9 ZNF221 ARHGAP35 SP1 HNRNPL CREB1 GATAD2A ZBTB33 PRDM10 REST ZNF629 MDM4 lnc-PIK3C2B-2 ZC3H11A SNRPE ZBED6 PPP1R15B PIK3C2B NFASC SOX13 RBBP5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the NFASC gene promoter:
  • NF-1
  • Nkx2-5
  • p300
  • Sp1
  • STAT3

Genomic Locations for NFASC Gene

Genomic Locations for NFASC Gene
chr1:204,828,651-205,022,822
(GRCh38/hg38)
Size:
194,172 bases
Orientation:
Plus strand
chr1:204,797,779-204,991,950
(GRCh37/hg19)
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 NFASC/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};
    Miscellaneous:
    • [Isoform 2]: May be due to intron retention.
    • [Isoform 5]: May be due to intron retention.

    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 Asn305, Asn409, Asn446, Asn483, Asn752, Asn778, Asn973, Asn984, and Asn988
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • NFASC_HUMAN (1552)

No data available for DME Specific Peptides for NFASC Gene

Domains & Families for NFASC Gene

Gene Families for NFASC Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Suggested Antigen Peptide Sequences for NFASC Gene

GenScript: Design optimal peptide antigens:
  • Neurofascin (NFASC_HUMAN)

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

Human Phenotype Ontology for NFASC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NFASC Gene

MGI Knock Outs for NFASC:
  • Nfasc Nfasc<tm1.1Brp>
  • Nfasc Nfasc<tm1a(EUCOMM)Hmgu>

Animal Model Products

  • Taconic Biosciences Mouse Models for NFASC

CRISPR Products

Inhibitory RNA Products

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

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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.
[Isoform 8]: Cell junction, paranodal septate junction.

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 3
cytoskeleton 2
endoplasmic reticulum 2
mitochondrion 1
peroxisome 1
nucleus 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for NFASC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0005925 focal adhesion HDA 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

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
  • Na(+)
  • Na+
  • SODIUM ion
7440-23-5
genes like me logo Genes that share compounds with NFASC: view

Transcripts for NFASC Gene

mRNA/cDNA for NFASC Gene

11 REFSEQ mRNAs :
27 NCBI additional mRNA sequence :
25 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 NFASC

Clone 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

Expression for NFASC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for NFASC Gene



Protein tissue co-expression partners for NFASC Gene

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

SOURCE GeneReport for Unigene cluster for NFASC Gene:

Hs.13349

Evidence on tissue expression from TISSUES for NFASC Gene

  • Nervous system(5)
  • Eye(3.2)
  • Kidney(2.4)
  • Muscle(2.3)
  • Skin(2.1)
  • Blood(2.1)
  • Heart(2)
genes like me logo Genes that share expression patterns with NFASC: 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 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 30 31
  • 99.25 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Nfasc 30
  • 89.49 (n)
Mouse
(Mus musculus)
Mammalia Nfasc 30 17 31
  • 89.19 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NFASC 30 31
  • 84.41 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NFASC 30 31
  • 83.43 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NFASC 31
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia NFASC 31
  • 73 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NFASC 30 31
  • 74.5 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NFASC 31
  • 67 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia nfasc 30
  • 68.39 (n)
Zebrafish
(Danio rerio)
Actinopterygii nfasca 30 31
  • 65.48 (n)
OneToMany
NFASC (1 of 2) 31
  • 46 (a)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta Nrg 32
  • 32 (a)
Worm
(Caenorhabditis elegans)
Secernentea lad-1 32
  • 26 (a)
Species where no ortholog for NFASC was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for NFASC: view image

Paralogs for NFASC Gene

(8) SIMAP similar genes for NFASC Gene using alignment to 12 proteins:

  • NFASC_HUMAN
  • D6RBU5_HUMAN
  • D6RHX4_HUMAN
  • F8W791_HUMAN
  • F8W792_HUMAN
  • F8W8X7_HUMAN
  • F8W9B6_HUMAN
  • F8WAT1_HUMAN
  • H7BY57_HUMAN
  • H7C073_HUMAN
  • H7C0L6_HUMAN
  • J3QSX2_HUMAN
genes like me logo Genes that share paralogs with NFASC: view

Variants for NFASC Gene

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

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
709848 Benign: not provided 204,954,892(+) C/T MISSENSE_VARIANT
719373 Benign: not provided 204,954,911(+) G/A SYNONYMOUS_VARIANT
722693 Benign: not provided 204,973,400(+) C/T SYNONYMOUS_VARIANT
723068 Benign: not provided 204,975,313(+) G/A MISSENSE_VARIANT
723069 Benign: not provided 204,975,326(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for NFASC Gene

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)

Additional Variant Information for NFASC Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for NFASC Gene

MalaCards: The human disease database

(15) MalaCards diseases for NFASC Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search NFASC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NFASC_HUMAN
  • Neurodevelopmental disorder with central and peripheral motor dysfunction (NEDCPMD) [MIM:618356]: An autosomal recessive neurodevelopmental disorder with early onset and a highly variable phenotype. Disease features include hypotonia apparent from birth, poor feeding, global developmental delay with absence of reaction to touch and no eye contact, infantile-onset progressive ataxia and demyelinating peripheral neuropathy. {ECO:0000269 PubMed:28940097, ECO:0000269 PubMed:30124836, ECO:0000269 PubMed:30850329}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for NFASC

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 NFASC: view

No data available for Genatlas for NFASC Gene

Publications for NFASC Gene

  1. Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy. (PMID: 30850329) Monfrini E … Di Fonzo A (Parkinsonism & related disorders 2019) 3 4
  2. Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia. (PMID: 30124836) Smigiel R … Ploski R (Human molecular genetics 2018) 3 4
  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
  4. 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
  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 23

Products for NFASC Gene

  • Signalway ELISA kits for NFASC
  • Signalway Proteins for NFASC

Sources for NFASC Gene