Homo sapiens Gene: NEFM
Summary
InnateDB Gene IDBG-12599.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol NEFM
Gene Name neurofilament, medium polypeptide
Synonyms NEF3; NF-M; NFM;
Species Homo sapiens
Ensembl Gene ENSG00000104722
Encoded Proteins
neurofilament, medium polypeptide
neurofilament, medium polypeptide
neurofilament, medium polypeptide
neurofilament, medium polypeptide
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 8:24913012-24919098
Strand Forward strand
Band p21.2
Transcripts
ENST00000221166 ENSP00000221166
ENST00000437366 ENSP00000410137
ENST00000433454 ENSP00000412295
ENST00000523467
ENST00000518131 ENSP00000427872
ENST00000521540
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 16 experimentally validated interaction(s) in this database.
They are also associated with 2 interaction(s) predicted by orthology.
Experimentally validated
Total 16 [view]
Protein-Protein 14 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 2 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 2 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005198 structural molecule activity
GO:0005200 structural constituent of cytoskeleton
GO:0005515 protein binding
GO:0008017 microtubule binding
Biological Process
GO:0000226 microtubule cytoskeleton organization
GO:0008088 axon cargo transport
GO:0031133 regulation of axon diameter
GO:0033693 neurofilament bundle assembly
GO:0045104 intermediate filament cytoskeleton organization
GO:0045110 intermediate filament bundle assembly
GO:0060052 neurofilament cytoskeleton organization
Cellular Component
GO:0005882 intermediate filament
GO:0005883 neurofilament
GO:0030424 axon
GO:0031594 neuromuscular junction
GO:0043005 neuron projection
GO:0097418 neurofibrillary tangle
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
Amyotrophic lateral sclerosis (ALS) pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt P07197
TrEMBL E7EMV2 E7ESP9
UniProt Splice Variant
Entrez Gene 4741
UniGene Hs.458657 Hs.730072
RefSeq NM_001105541 NM_005382
HUGO HGNC:7734
OMIM 162250
CCDS CCDS47831 CCDS6046
HPRD
IMGT
EMBL AF106564 AK294681 BC096757 CH471080 EF560736 Y00067
GenPept AAH96757 ABQ59046 BAG57843 CAA68276 EAW63602
RNA Seq Atlas 4741