NEFM (neurofilament medium chain)

Gene

• Entrez ID: 4741
• Gene name: Neurofilament medium chain
• Gene symbol: NEFM
• Synonyms (NCBI Gene): NEF3, NF-M, NFM
• Chromosome: 8
• Chromosome location: 8p21.2
• 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

miRNA

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
MIRT2579606	hsa-miR-3943	CLIP-seq
MIRT2579607	hsa-miR-4666-3p	CLIP-seq
MIRT2579608	hsa-miR-516b	CLIP-seq
MIRT2579609	hsa-miR-654-3p	CLIP-seq
MIRT2579604	hsa-miR-1225-3p	CLIP-seq
MIRT2579605	hsa-miR-1231	CLIP-seq
MIRT2579606	hsa-miR-3943	CLIP-seq
MIRT2579607	hsa-miR-4666-3p	CLIP-seq
MIRT2579608	hsa-miR-516b	CLIP-seq
MIRT2579609	hsa-miR-654-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005198	Function	Structural molecule activity	IEA
GO:0005200	Function	Structural constituent of cytoskeleton	IBA
GO:0005200	Function	Structural constituent of cytoskeleton	TAS	3608989
GO:0005515	Function	Protein binding	IPI	20195357, 25609649, 27173435, 28514442, 32296183, 33961781, 35271311
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005882	Component	Intermediate filament	IBA
GO:0005882	Component	Intermediate filament	IEA
GO:0005883	Component	Neurofilament	TAS	3608989
GO:0008017	Function	Microtubule binding	TAS	17498690
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0030424	Component	Axon	TAS	14662745
GO:0033693	Process	Neurofilament bundle assembly	IBA
GO:0033693	Process	Neurofilament bundle assembly	TAS	17498690
GO:0042995	Component	Cell projection	IEA
GO:0045111	Component	Intermediate filament cytoskeleton	IDA
GO:0097418	Component	Neurofibrillary tangle	IDA	21828286
GO:0099160	Component	Postsynaptic intermediate filament cytoskeleton	IBA

Other IDs

• MIM: 162250
• HGNC: 7734
• e!Ensembl: ENSG00000104722

Protein

• 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

Pathways

KEGG:

Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMERS DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEPRESSIVE DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ENDOMETRIOSIS	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENTAL DEPRESSION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PERIPHERAL NEUROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoma	Adenoma	BEFREE	27777363		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	20624930, 37848007	Associate	★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic Lateral Sclerosis	BEFREE	14640321, 30029677		★☆☆☆☆ Found in Text Mining only
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis	Pubtator	30029677	Associate	★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	28844827, 28887429		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	28844827		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	PSYGENET_DG	19204725		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Breast Carcinoma	Breast Carcinoma	BEFREE	25985363		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	25985363, 34001208	Associate	★☆☆☆☆ Found in Text Mining only
Carcinosarcoma	Carcinoma	Pubtator	28088687	Associate	★☆☆☆☆ Found in Text Mining only
Cockayne Syndrome	Cockayne Syndrome	BEFREE	12509286		★☆☆☆☆ Found in Text Mining only
Demyelinating Diseases	Demyelinating Diseases	BEFREE	28887429		★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	PSYGENET_DG	19204725		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endometrioma	Endometrioma	CTD_human_DG	20864642		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	CTD_human_DG	20864642		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Frontotemporal dementia	Frontotemporal dementia	BEFREE	16005115		★☆☆☆☆ Found in Text Mining only
Frontotemporal Dementia	Frontotemporal dementia	Pubtator	32576262, 34838088	Associate	★☆☆☆☆ Found in Text Mining only
Hyperaldosteronism	Hyperaldosteronism	Pubtator	27777363	Associate	★☆☆☆☆ Found in Text Mining only
Isodicentric Chromosome 15 Syndrome	Isodicentric Chromosome 15 Syndrome	BEFREE	19793310		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	25985363		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	25985363		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	Pubtator	2478022	Associate	★☆☆☆☆ Found in Text Mining only
Mental Depression	Mental Depression	PSYGENET_DG	19204725		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Motor Neuron Disease	Motor Neuron Disease	LHGDN	16084104		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	24636402		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	37848007	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30552712		★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	18827820		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	14583397, 28634551		★☆☆☆☆ Found in Text Mining only
Pick Disease of the Brain	Pica	BEFREE	15068247, 16005115		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	25371445	Associate	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	LHGDN	19034380		★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	BEFREE	24636402		★☆☆☆☆ Found in Text Mining only
UV-Sensitive Syndrome	UV-Sensitive Syndrome	BEFREE	12509286		★☆☆☆☆ Found in Text Mining only