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NFASC Gene

protein-coding   GIFtS: 64
GCID: GC01P204797

Neurofascin

(Previous name: neurofascin homolog (chicken))
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
neurofascin1 2
KIAA07563 5
Neurofascin Homolog (Chicken)1
NF2
NRCAML2
Neurofascin Homolog2

External Ids:    HGNC: 298661   Entrez Gene: 231142   Ensembl: ENSG000001635317   OMIM: 6091455   UniProtKB: O948563   

Export aliases for NFASC gene to outside databases

Previous GC identifers: GC01P202615 GC01P200351 GC01P201158 GC01P202067 GC01P201645 GC01P203064 GC01P175963


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, and demyelinating polyneuropathy. GO annotations related to this gene include protein binding involved in heterotypic cell-cell adhesion. An important paralog of this gene is CHL1.

UniProtKB/Swiss-Prot: NFASC_HUMAN, O94856
Function: Cell adhesion, ankyrin-binding protein which may be involved in neurite extension, axonal guidance,
synaptogenesis, myelination and neuron-glial cell interactions (By similarity)

Gene Wiki entry for NFASC Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NFASC gene promoter:
         NF-1   Sp1   p300   STAT3   Nkx2-5   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNFASC promoter sequence
   Search Chromatin IP Primers for NFASC

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NFASC


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q32.1   Ensembl cytogenetic band:  1q32.1   HGNC cytogenetic band: 1q32.1

NFASC Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NFASC gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P204797:  view genomic region     (about GC identifiers)

Start:
204,797,779 bp from pter      End:
204,991,950 bp from pter
Size:
194,172 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NFASC_HUMAN, O94856 (See protein sequence)
Recommended Name: Neurofascin precursor  
Size: 1347 amino acids; 150027 Da
Subunit: 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)
Sequence caution: Sequence=BAA34476.3; Type=Erroneous initiation; Sequence=BAB55195.1; Type=Erroneous initiation;
Sequence=BAC87577.1; Type=Erroneous initiation;
2 PDB 3D structures from and Proteopedia for NFASC:
3P3Y (3D)        3P40 (3D)    
Secondary accessions: B2RNN8 B3KQZ1 B5MDP6 B5MDR6 B7ZMD8 Q149P5 Q5T2F0 Q5T2F1 Q5T2F2 Q5T2F3
Q5T2F4 Q5T2F5 Q5T2F6 Q5T2F7 Q5T2F9 Q5T2G0 Q5W9F8 Q68DH3 Q6ZQV6 Q7Z3K1 Q96HT1 Q96K50
Alternative splicing: 13 isoforms:  O94856-1   O94856-2   O94856-3   O94856-4   O94856-5   O94856-6   O94856-7   O94856-8   
O94856-9   O94856-10   O94856-11   O94856-12   O94856-13   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NFASC: NX_O94856

Explore proteomics data for NFASC at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn305, Asn409, Asn446, Asn483, Asn752, Asn778, Asn973, Asn988
  • Modification sites at PhosphoSitePlus

  • See NFASC Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (6 alternative transcripts): 
    NP_001005388.2  NP_001005389.2  NP_001153803.1  NP_001153804.1  NP_001153805.1  NP_055905.2  

    ENSEMBL proteins: 
     ENSP00000412161   ENSP00000384875   ENSP00000385676   ENSP00000385637   ENSP00000427586  
     ENSP00000384061   ENSP00000425908   ENSP00000422524   ENSP00000415031   ENSP00000356141  
     ENSP00000395664   ENSP00000393290   ENSP00000416891   ENSP00000356140   ENSP00000356139  
     ENSP00000356138   ENSP00000342128   ENSP00000344786   ENSP00000343509   ENSP00000438614  
     ENSP00000353154   ENSP00000356137  
    Reactome Protein details: O94856

    NFASC Human Recombinant Protein Products:

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    Novus Biologicals NFASC Protein
    Sino Biological Recombinant Protein for NFASC
    Sino Biological Cell Lysate for NFASC
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NFASC

    NFASC Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of NFASC
    R&D Systems Antibodies for NFASC (Neurofascin)
    OriGene Antibodies for NFASC
    OriGene Custom Antibody Services for NFASC
    Novus Biologicals NFASC Antibodies
    Abcam antibodies for NFASC
    Cloud-Clone Corp. Antibodies for NFASC
    Search ThermoFisher Antibodies for NFASC
    LSBio Antibodies in human, mouse, rat for NFASC

    NFASC Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for NFASC
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NFASC
    Cloud-Clone Corp. CLIAs for NFASC


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    FN3: Fibronectin type III domain containing
    ISET: Immunoglobulin superfamily / I-set domain containing

    Selected InterPro protein domains (see all 8):
     IPR003598 Ig_sub2
     IPR003961 Fibronectin_type3
     IPR013098 Ig_I-set
     IPR013783 Ig-like_fold
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry O94856

    ProtoNet protein and cluster: O94856

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


    NFASC for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NFASC_HUMAN, O94856
    Function: Cell adhesion, ankyrin-binding protein which may be involved in neurite extension, axonal guidance,
    synaptogenesis, myelination and neuron-glial cell interactions (By similarity)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0086080protein binding involved in heterotypic cell-cell adhesion IEA--
         
    NFASC for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Nfasc):
     behavior/neurological  growth/size/body  limbs/digits/tail  mortality/aging  nervous system 

    NFASC for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Nfasctm1.1Brp for NFASC

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NFASC
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NFASC

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NFASC
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NFASC

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat NFASC using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NFASC (see all 94):
    hsa-miR-607 hsa-miR-300 hsa-miR-1914* hsa-miR-146a hsa-miR-128 hsa-miR-200a hsa-miR-4267 hsa-miR-3613-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NFASC
    Predesigned siRNA for gene silencing in human, mouse, rat NFASC

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NFASC

    Clone
    Products:
         
    OriGene clones in human, mouse for NFASC (see all 33)
    OriGene ORF clones in mouse, rat for NFASC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): NFASC (NM_001005388)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NFASC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NFASC

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for NFASC 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NFASC


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NFASC_HUMAN, O94856: Cell membrane; Single-pass type I membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    cytoskeleton2
    endoplasmic reticulum2
    extracellular1
    lysosome1

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ISS--
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IEA--
    GO:0030424axon ----
    GO:0033010paranodal junction IEA--

    NFASC for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for NFASC About                                                                                                See pathways by source

    SuperPathContained pathways About
    1L1CAM interactions
    Axon guidance0.63
    L1CAM interactions0.36
    Developmental Biology0.63
    Neurofascin interactions0.00
    2Interaction between L1 and Ankyrins
    Interaction between L1 and Ankyrins
    3Cell adhesion molecules (CAMs)
    Cell adhesion molecules (CAMs)

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2 Reactome Pathways for NFASC
        Interaction between L1 and Ankyrins
    Neurofascin interactions


    1 Kegg Pathway  (Kegg details for NFASC):
        Cell adhesion molecules (CAMs)


    NFASC for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including NFASC: 
              Parkinson's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NFASC

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NFASC (O948563 ENSP000003531544) via UniProtKB, MINT, STRING, and/or I2D (see all 48)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SDCBPO005603, ENSP000002601304I2D: score=2 STRING: ENSP00000260130
    ABL1P005193, ENSP000003614234I2D: score=1 STRING: ENSP00000361423
    ANK1P161573, ENSP000002657094I2D: score=1 STRING: ENSP00000265709
    CRKP461083, ENSP000003005744I2D: score=1 STRING: ENSP00000300574
    DCXO436023, ENSP000003376974I2D: score=1 STRING: ENSP00000337697
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002175protein localization to paranode region of axon IEA--
    GO:0007411axon guidance TAS--
    GO:0007422peripheral nervous system development ISS--
    GO:0019226transmission of nerve impulse IEA--
    GO:0030913paranodal junction assembly IEA--

    NFASC for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for NFASC

    1 HMDB Compound for NFASC    About this table
    CompoundSynonyms CAS #PubMed Ids
    SodiumSodium (see all 2)7440-23-5--

    2 Novoseek inferred chemical compound relationships for NFASC gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sodium 36.5 11 15797713 (3), 11470829 (2), 10586239 (1), 11728309 (1) (see all 7)
    tyrosine 0 4 9371782 (2)



    NFASC for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NFASC gene (7 alternative transcripts): 
    NM_001005388.2  NM_001005389.1  NM_001160331.1  NM_001160332.1  NM_001160333.1  NM_015090.3  NM_001005387.1  

    Unigene Cluster for NFASC:

    Neurofascin
    Hs.13349  [show with all ESTs]
    Unigene Representative Sequence: NM_001005388
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 32):
    ENST00000404977 ENST00000446412 ENST00000403080(uc001hbh.3 uc010pqz.2)
    ENST00000493914 ENST00000404076 ENST00000514644(uc009xbg.1) ENST00000401399(uc001hbl.2 uc009xbh.2)
    ENST00000505079 ENST00000404907 ENST00000513543 ENST00000504476 ENST00000430393
    ENST00000367173 ENST00000504149 ENST00000512826(uc001hbk.1) ENST00000471392
    ENST00000425360 ENST00000468328

    miRNA
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    Block miRNA regulation of human, mouse, rat NFASC using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NFASC (see all 94):
    hsa-miR-607 hsa-miR-300 hsa-miR-1914* hsa-miR-146a hsa-miR-128 hsa-miR-200a hsa-miR-4267 hsa-miR-3613-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NFASC
    Clone
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    OriGene clones in human, mouse for NFASC (see all 33)
    OriGene ORF clones in mouse, rat for NFASC
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 6): NFASC (NM_001005388)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NFASC
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NFASC
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for NFASC
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NFASC
      QuantiTect SYBR Green Assays in human, mouse, rat NFASC
      QuantiFast Probe-based Assays in human, mouse, rat NFASC

    Additional mRNA sequence: 

    AB018299.3 AB177861.1 AF054995.1 AK027553.1 AK090639.1 AK091338.1 AK097802.1 AK127205.1 
    AK127424.1 AK128699.1 AK172728.1 AK295291.1 AK299262.1 AK308686.1 BC008124.2 BC033367.1 
    BC035389.1 BC040674.1 BC117674.2 BC137013.1 BC144454.1 BX537841.1 BX641047.1 BX641048.1 
    BX647464.1 CR749402.1 

    21 DOTS entries:

    DT.404400  DT.314541  DT.97836305  DT.110862  DT.92066284  DT.97838242  DT.101982756  DT.110863 
    DT.91890351  DT.100017176  DT.100747099  DT.70103030  DT.75169797  DT.95333069  DT.95176130  DT.91981426 
    DT.121330329  DT.121330381  DT.75143885  DT.100714791  DT.92060805 

    Selected AceView cDNA sequences (see all 188):

    CF887580 BF431751 BM726563 BC008124 CA843141 AW026442 AL699776 CK300307 
    AI393932 BM681216 BM855905 AK090639 CA843898 F10987 AA357816 BM718570 
    BC033367 AA670300 BF433773 BM671662 BX645661 AK128699 AX746553 BQ188943 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NFASC (see all 11)    About this scheme

    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:                                                                                                                                                        -   

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


    ECgene alternative splicing isoforms for NFASC

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NFASC expression in normal human tissues (normalized intensities)      NFASC embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCAATGAAA
    NFASC Expression
    About this image


    NFASC expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Peripheral Nervous System (Nervous System)
             Myelinating Schwann Cells Peripheral Nerve Domain
     
     Eye (Sensory Organs)
             Retina
    NFASC Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NFASC Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.13349
        Pathway & Disease-focused RT2 Profiler PCR Array including NFASC: 
              Parkinson's Disease in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for NFASC gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nfasc1 , 5 neurofascin1, 5 89.19(n)1
    95.89(a)1
      1 (57.42 cM)5
    2691161  NM_182716.41  NP_874385.11 
     1325646915 
    chicken
    (Gallus gallus)
    Aves NFASC1 neurofascin 74.5(n)
    76.58(a)
      419824  NM_001160322.2  NP_001153794.1 
    lizard
    (Anolis carolinensis)
    Reptilia NFASC6
    neurofascin
    67(a)
    1 ↔ 1
    4(116474297-116665984)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia nfasc1 neurofascin 68.39(n)
    71.91(a)
      100485986  XM_004910698.1  XP_004910755.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nfasca1 neurofascin homolog (chicken) a 65.48(n)
    66.73(a)
      100141490  NM_001145767.1  NP_001139239.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NFASC gene
    CHL12  NEO12  ROBO12  CNTN52  CNTN42  IGDCC42  NRCAM2  L1CAM2  
    ROBO22  CNTN22  CNTN62  CNTN32  DCC2  PRTG2  IGDCC32  ROBO32  
    CNTN12  
    8 SIMAP similar genes for NFASC using alignment to 12 protein entries:     NFASC_HUMAN (see all proteins):
    NRCAM    L1CAM    CHL1    MUSK    FGFR1    FGFR3
    MDGA1    HMCN2

    NFASC for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NFASC (see all 4388)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs105636211,2
    C--176007505(+) TCCAG-/GCACCTT 5 -- int10--------
    rs1461969791,2
    C--176007505(+) TCCAG-/GC    
       ACCTT
    GCATT
    5 -- int10--------
    rs3749371861,2
    C--176007505(+) TCCAG-/GCA   
      CCTTGC
    ATTTG
    5 -- int10--------
    rs2019964141,2
    C--176007510(+) GCACC-/TTGCA 
            
    TTTGA
    5 -- int10--------
    rs66613621,2
    A--176011416(+) tttatA/Ttatat 5 -- int10--------
    rs355006811,2
    C--176071425(+) TTCTT-/AACCAT 5 -- int11Minor allele frequency- A:0.50NA 2
    rs1413588321,2
    C--176077037(+) GGGGGA/GAAAGT 6 -- int1 us2k10--------
    rs1504932911,2
    C--176077037(+) GGGGG-/AAAAAG 6 -- int1 us2k10--------
    rs3683973161,2
    C--176085796(+) GGCTA-/T/TT  
            
    TTTTT
    6 -- int10--------
    rs1997048331,2
    C--176104579(-) TAGTTC/TTTTTT 6 -- int10--------

    HapMap Linkage Disequilibrium report for NFASC (204797779 - 204991950 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for NFASC:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1007437CNV Deletion20482838
    nsv4165CNV Insertion18451855
    esv270254CNV Insertion20981092
    nsv521899CNV Loss19592680
    nsv873112CNV Gain21882294

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 609145    OMIM disorders: --

    13 diseases for NFASC:    About MalaCards
    hyperkalemic periodic paralysis    demyelinating polyneuropathy    polyneuropathy    hydrocephalus
    dengue hemorrhagic fever    dental caries    maturity-onset diabetes of the young    lissencephaly
    hemorrhagic fever    multiple sclerosis    parkinson's disease    neuronitis
    cerebritis

    2 diseases from the University of Copenhagen DISEASES database for NFASC:
    Hyperkalemic periodic paralysis     Demyelinating polyneuropathy

    NFASC for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): NFASC
    Human Genome Epidemiology (HuGE) Navigator: NFASC (2 documents)

    Export disorders for NFASC gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for NFASC gene, integrated from 10 sources (see all 83):
    (articles sorted by number of sources associating them with NFASC)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Homophilic adhesion mechanism of neurofascin, a member of the L1 family of neural cell adhesion molecules. (PubMed id 21047790)1, 2 Liu H.... He X. (J. Biol. Chem. 2011)
    2. Dengue hemorrhagic fever is associated with polymorphisms in JAK1. (PubMed id 20588308)1, 4 Silva L.K....Teixeira M.G. (Eur. J. Hum. Genet. 2010)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    5. Alternative splice variants encoding unstable protein domains exist in the human brain. (PubMed id 15491607)1, 2 Homma K.... Nishikawa K. (J. Mol. Biol. 2004)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    8. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)
    9. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9872452)1, 2 Nagase T.... Ohara O. (DNA Res. 1998)
    10. Genes for the neuronal immunoglobulin domain cell adhesion molecules neurofascin and Nr-CAM map to mouse chromosomes 1 and 12 and homologous human chromosomes. (PubMed id 8672144)1, 3 Burmeister M....Bennett V. (Mamm. Genome 1996)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 23114 HGNC: 29866 AceView: NFASC Ensembl:ENSG00000163531 euGenes: HUgn23114
    ECgene: NFASC Kegg: 23114 H-InvDB: NFASC

    (According to HUGE)
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    HUGE: KIAA0756

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for NFASC Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for NFASC gene:
    Search GeneIP for patents involving NFASC

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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