NEFM (neurofilament medium chain)

2017-10-01  

Identity

HGNC
LOCATION
8p21.2
LOCUSID
ALIAS
NEF3,NF-M,NFM
FUSION GENES

Other Information

Locus ID:

NCBI: 4741
MIM: 162250
HGNC: 7734
Ensembl: ENSG00000104722

Variants:

dbSNP: 4741
ClinVar: 4741
TCGA: ENSG00000104722
COSMIC: NEFM

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104722ENST00000221166P07197
ENSG00000104722ENST00000433454P07197
ENSG00000104722ENST00000437366E7ESP9
ENSG00000104722ENST00000518131E7EMV2

Expression (GTEx)

0
100
200
300
400
500
600

Pathways

PathwaySourceExternal ID
Amyotrophic lateral sclerosis (ALS)KEGGko05014
Amyotrophic lateral sclerosis (ALS)KEGGhsa05014

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
202019262010Human variation in alcohol response is influenced by variation in neuronal signaling genes.45
204710302010Proteome analysis of the thalamus and cerebrospinal fluid reveals glycolysis dysfunction and potential biomarkers candidates for schizophrenia.42
190343802009Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis.36
206249302010Quantitative phosphoproteomic analysis of neuronal intermediate filament proteins (NF-M/H) in Alzheimer's disease by iTRAQ.23
203810702010Sex-specific proteome differences in the anterior cingulate cortex of schizophrenia.22
160065572005O-glycosylation of the tail domain of neurofilament protein M in human neurons and in spinal cord tissue of a rat model of amyotrophic lateral sclerosis (ALS).21
160841042006Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis.7
202133202010How the projection domains of NF-L and alpha-internexin determine the conformations of NF-M and NF-H in neurofilaments.7
285840122017NEFM (Neurofilament Medium) Polypeptide, a Marker for Zona Glomerulosa Cells in Human Adrenal, Inhibits D1R (Dopamine D1 Receptor)-Mediated Secretion of Aldosterone.6
145833972003Mutation analysis of the neurofilament M gene in Parkinson's disease.4

Citation

Dessen P

NEFM (neurofilament medium chain)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57073/nefm