NFASC
Summary: 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].
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
Nameneurofascin OMIM IDMIM:609145 Ensembl IDEnsembl:ENSG00000163531 HGNC IDHGNC:HGNC:29866 PHARMGKB IDPA128395771 Map Location1q32.1 | |||||
GO terms in NFASC
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IEA | GO:0002175 | protein localization to paranode region of axon |
| BP | IEA | GO:0007411 | axon guidance |
| BP | ISS | GO:0007422 | peripheral nervous system development |
| BP | IEA | GO:0019226 | transmission of nerve impulse |
| BP | IEA | GO:0030913 | paranodal junction assembly |
| BP | IEA | GO:0034113 | heterotypic cell-cell adhesion |
Gene expression in normal tissue: NFASC
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in NFASC
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-1266738 | Developmental Biology |
| reactome | R-HSA-168249 | Innate Immune System |
| reactome | R-HSA-168256 | Immune System |
| reactome | R-HSA-373760 | L1CAM interactions |
| reactome | R-HSA-373760 | L1CAM interactions |
Gene-Drug: Aster Plot
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in NFASC
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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