NFASC (neurofascin)

2014-08-01  

Identity

HGNC
LOCATION
1q32.1
LOCUSID
ALIAS
NEDCPMD,NF,NRCAML
FUSION GENES

Other Information

Locus ID:

NCBI: 23114
MIM: 609145
HGNC: 29866
Ensembl: ENSG00000163531

Variants:

dbSNP: 23114
ClinVar: 23114
TCGA: ENSG00000163531
COSMIC: NFASC

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163531ENST00000339876O94856
ENSG00000163531ENST00000360049O94856
ENSG00000163531ENST00000367173H7BY57
ENSG00000163531ENST00000401399O94856
ENSG00000163531ENST00000403080O94856
ENSG00000163531ENST00000404076O94856
ENSG00000163531ENST00000404907O94856
ENSG00000163531ENST00000413225H7C073
ENSG00000163531ENST00000425360H7C0L6
ENSG00000163531ENST00000430393X6RKN2
ENSG00000163531ENST00000447819A0A0C4DG92
ENSG00000163531ENST00000504476D6RBU5
ENSG00000163531ENST00000505079D6RHX4
ENSG00000163531ENST00000513543O94856
ENSG00000163531ENST00000539706O94856

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Cell adhesion molecules (CAMs)KEGGko04514
Cell adhesion molecules (CAMs)KEGGhsa04514
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
L1CAM interactionsREACTOMER-HSA-373760
Interaction between L1 and AnkyrinsREACTOMER-HSA-445095
Neurofascin interactionsREACTOMER-HSA-447043
Neutrophil degranulationREACTOMER-HSA-6798695

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
178461502007Neurofascin as a novel target for autoantibody-mediated axonal injury.107
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
245234852014Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg.52
224626672012Nodal proteins are target antigens in Guillain-Barré syndrome.41
268435592016Neurofascin-155 IgG4 in chronic inflammatory demyelinating polyneuropathy.38
210477902011Homophilic adhesion mechanism of neurofascin, a member of the L1 family of neural cell adhesion molecules.25
224920292012Pinceau organization in the cerebellum requires distinct functions of neurofascin in Purkinje and basket neurons during postnatal development.25
238840332013Anti-neurofascin antibody in patients with combined central and peripheral demyelination.25
203718062010In vivo deletion of immunoglobulin domains 5 and 6 in neurofascin (Nfasc) reveals domain-specific requirements in myelinated axons.24
223063022012Neurofascin: a switch between neuronal plasticity and stability.22

Citation

Dessen P

NFASC (neurofascin)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54499/nfasc