U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    NEFM neurofilament medium chain [ Homo sapiens (human) ]

    Gene ID: 4741, updated on 5-May-2024

    Summary

    Official Symbol
    NEFMprovided by HGNC
    Official Full Name
    neurofilament medium chainprovided by HGNC
    Primary source
    HGNC:HGNC:7734
    See related
    Ensembl:ENSG00000104722 MIM:162250; AllianceGenome:HGNC:7734
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    NFM; NEF3; NF-M
    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]
    Expression
    Biased expression in brain (RPKM 56.0), adrenal (RPKM 9.7) and 1 other tissue See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See NEFM in Genome Data Viewer
    Location:
    8p21.2
    Exon count:
    4
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (24913761..24919093)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (25188914..25194246)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (24771274..24776606)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986882 Neighboring gene uncharacterized LOC105379329 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:24770918-24771691 Neighboring gene uncharacterized LOC112268023 Neighboring gene microRNA 6841 Neighboring gene neurofilament light chain

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat modulates NEFM expression in neuron cells PubMed
    Vpr vpr The RNA and protein levels of NEFM decreases in Vpr-treated human neurons compared to the untreated control PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables microtubule binding TAS
    Traceable Author Statement
    more info
    PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    enables structural constituent of cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Process Evidence Code Pubs
    involved_in neurofilament bundle assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in neurofilament bundle assembly TAS
    Traceable Author Statement
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in axon IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in axon TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    is_active_in intermediate filament IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in intermediate filament cytoskeleton IDA
    Inferred from Direct Assay
    more info
     
    located_in neurofibrillary tangle IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in neurofilament TAS
    Traceable Author Statement
    more info
    PubMed 
    is_active_in postsynaptic intermediate filament cytoskeleton IBA
    Inferred from Biological aspect of Ancestor
    more info
     

    General protein information

    Preferred Names
    neurofilament medium polypeptide
    Names
    160 kDa neurofilament protein
    neurofilament 3
    neurofilament triplet M protein
    neurofilament, medium polypeptide 150kDa
    neurofilament-3 (150 kD medium)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008388.2 RefSeqGene

      Range
      5002..10334
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001105541.2NP_001099011.1  neurofilament medium polypeptide isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 1. The resulting isoform (2) has a shorter N-terminus when compared to isoform 1.
      Source sequence(s)
      AF106564, AF181990, BI496345, BP247321, DC318935, DC332005, DC352660
      Consensus CDS
      CCDS47831.1
      UniProtKB/TrEMBL
      Q9UK51
      Related
      ENSP00000412295.2, ENST00000433454.3
      Conserved Domains (2) summary
      PTZ00121
      Location:169488
      PTZ00121; MAEBL; Provisional
      pfam00038
      Location:135
      Filament; Intermediate filament protein
    2. NM_005382.2NP_005373.2  neurofilament medium polypeptide isoform 1

      See identical proteins and their annotated locations for NP_005373.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      BC071752, BC096757, BP311096
      Consensus CDS
      CCDS6046.1
      UniProtKB/Swiss-Prot
      B4DGN2, E9PBF7, P07197, Q4QRK6
      UniProtKB/TrEMBL
      E7ESP9
      Related
      ENSP00000221166.5, ENST00000221166.10
      Conserved Domains (2) summary
      pfam00038
      Location:100411
      Filament; Intermediate filament protein
      pfam04732
      Location:1078
      Filament_head; Intermediate filament head (DNA binding) region

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      24913761..24919093
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      25188914..25194246
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)