NEFM (neurofilament medium chain)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4741
Gene name Gene Name - the full gene name approved by the HGNC.
Neurofilament medium chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
NEFM
Synonyms (NCBI Gene) Gene synonyms aliases
NEF3, NF-M, NFM
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8p21.2
Summary Summary of gene provided in NCBI Entrez Gene.
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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(15)
miRTarBase ID miRNA Experiments Reference
MIRT004961 hsa-let-7a-5p qRT-PCR 17942906
MIRT016901 hsa-miR-335-5p Microarray 18185580
MIRT2052045 hsa-miR-586 CLIP-seq
MIRT2579604 hsa-miR-1225-3p CLIP-seq
MIRT2579605 hsa-miR-1231 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0005200 Function Structural constituent of cytoskeleton TAS 3608989
GO:0005515 Function Protein binding IPI 20195357, 25609649, 27173435, 28514442, 32296183
GO:0005883 Component Neurofilament IEA
GO:0008017 Function Microtubule binding TAS 17498690
GO:0030424 Component Axon TAS 14662745
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
162250 7734 ENSG00000104722
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P07197
Protein name Neurofilament medium polypeptide (NF-M) (160 kDa neurofilament protein) (Neurofilament 3) (Neurofilament triplet M protein)
Protein function Neurofilaments usually contain three intermediate filament proteins: NEFL, NEFM, and NEFH which are involved in the maintenance of neuronal caliber. May additionally cooperate with the neuronal intermediate filament proteins PRPH and INA to form
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04732 Filament_head 9 → 99 Intermediate filament head (DNA binding) region Family
PF00038 Filament 100 → 411 Intermediate filament protein Coiled-coil
Sequence 
MSYTLDSLGNPSAYRRVTETRSSFSRVSGSPSSGFRSQSWSRGSPSTVSSSYKRSMLAPR
LAYSSAMLSSAESSLDFSQSSSLLNGGSGPGGDYKLSRSNEKEQLQGLNDRFAGYIEKVH
YLEQQNKEIEAEIQALRQKQASHAQLGDAYDQEIRELRATLEMVNHEKAQVQLDSDHLEE
DIHRLKERFEEEARLRDDTEAAIRALRKDIEEASLVKVELDKKVQSLQDEVAFLRSNHEE
EVADLLAQIQASHITVERKDYLKTDISTALKEIRSQLESHSDQNMHQAEEWFKCRYAKLT
EAAEQNKEAIRSAKEEIAEYRRQLQSKSIELESVRGTKESLERQLSDIEERHNHDLSSYQ
DTIQQLENELRGTKWEMARHLREYQDLLNVKMALDIEIAAYRKLLEGEETRFSTFAGSIT
GPLYTHRPPITISSKIQKPKVEAPKLKVQHKFVEEIIEETKVEDEKSEMEEALTAITEEL
AVSMKEEKKEAAEEKEEEPEAEEEEVAAKKSPVKATAPEVKEEEGEKEEEEGQEEEEEED
EGAKSDQAEEGGSEKEGSSEKEEGEQEEGETEAEAEGEEAEAKEEKKVEEKSEEVATKEE
LVADAKVEKPEKAKSPVPKSPVEEKGKSPVPKSPVEEKGKSPVPKSPVEEKGKSPVPKSP
VEEKGKSPVSKSPVEEKAKSPVPKSPVEEAKSKAEVGKGEQKEEEEKEVKEAPKEEKVEK
KEEKPKDVPEKKKAESPVKEEAVAEVVTITKSVKVHLEKETKEEGKPLQQEKEKEKAGGE
GGSEEEGSDKGAKGSRKEDIAVNGEVEGKEEVEQETKEKGSGREEEKGVVTNGLDLSPAD
EKKGGDKSEEKVVVTKTVEKITSEGGDGATKYITKSVTVTQKVEEHEETFEEKLVSTKKV
EKVTSHAIVKEVTQSD
Sequence length 916
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  
  Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases 		 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Endometriosis Endometriosis 20864642 ClinVar
Mental depression Mental Depression, Depressive disorder 19204725 ClinVar
Show/Hide Text Mining Associations (17)
Associations from Text Mining
Disease Name Relationship Type References
Adenomyosis Associate 36532077
Alzheimer Disease Associate 20624930, 37848007
Amyotrophic Lateral Sclerosis Associate 30029677
Breast Neoplasms Associate 25985363, 34001208
Carcinosarcoma Associate 28088687
Diffuse Neurofibrillary Tangles with Calcification Associate 21828286
Frontotemporal Dementia Associate 32576262, 34838088
Herpes Zoster Associate 27777363
HIV Infections Associate 26033855
Hyperaldosteronism Associate 27777363