NEFL neurofilament light chain [Homo sapiens (human)] - Gene

Summary

Official Symbol: NEFLprovided by HGNC
Official Full Name: neurofilament light chainprovided by HGNC
Primary source: HGNC:HGNC:7739
See related: Ensembl:ENSG00000277586 MIM:162280; AllianceGenome:HGNC:7739
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: NFL; NF-L; NF68; CMT1F; CMT2E; CMTDIG; PPP1R110
Summary: Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008]
Expression: Biased expression in brain (RPKM 94.3) and adrenal (RPKM 9.8) See more
Orthologs: mouse all
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Genomic context

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 (24950955..24956612, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	8	NC_060932.1 (25226443..25232101, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	8	NC_000008.10 (24808468..24814126, complement)

Chromosome 8 - NC_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Cluster analysis dissecting cognitive deficits in older adults with major depressive disorder and the association with neurofilament light chain.
Title: Cluster analysis dissecting cognitive deficits in older adults with major depressive disorder and the association with neurofilament light chain.
Changes of neurofilament light chain in patients with alcohol dependence following withdrawal and the genetic effect from ALDH2 Polymorphism.
Title: Changes of neurofilament light chain in patients with alcohol dependence following withdrawal and the genetic effect from ALDH2 Polymorphism.
Relationship between increased serum neurofilament light chain and glial fibrillary acidic protein levels with non-motor symptoms in patients with Parkinson's disease.
Title: Relationship between increased serum neurofilament light chain and glial fibrillary acidic protein levels with non-motor symptoms in patients with Parkinson's disease.
Inflammation affects dynamic functional network connectivity pattern changes via plasma NFL in cognitive impairment patients.
Title: Inflammation affects dynamic functional network connectivity pattern changes via plasma NFL in cognitive impairment patients.
The impact of kidney function on plasma neurofilament light and phospho-tau 181 in a community-based cohort: the Shanghai Aging Study.
Title: The impact of kidney function on plasma neurofilament light and phospho-tau 181 in a community-based cohort: the Shanghai Aging Study.
Associations of plasma NfL, GFAP, and t-tau with cerebral small vessel disease and incident dementia: longitudinal data of the AGES-Reykjavik Study.
Title: Associations of plasma NfL, GFAP, and t-tau with cerebral small vessel disease and incident dementia: longitudinal data of the AGES-Reykjavik Study.
Plasma neurofilament light chain in association to late-life depression in the general population.
Title: Plasma neurofilament light chain in association to late-life depression in the general population.
Serum NfL and GFAP are associated with incident dementia and dementia mortality in older adults: The cardiovascular health study.
Title: Serum NfL and GFAP are associated with incident dementia and dementia mortality in older adults: The cardiovascular health study.
Neurofilament Light Chain and Glial Fibrillary Acidic Protein as early prognostic biomarkers after out-of-hospital cardiac arrest.
Title: Neurofilament Light Chain and Glial Fibrillary Acidic Protein as early prognostic biomarkers after out-of-hospital cardiac arrest.
Clinical Evaluation of Cerebrospinal Fluid p217tau and Neurofilament Light Chain Levels in Patients with Alzheimer's Disease or Other Neurological Diseases.
Title: Clinical Evaluation of Cerebrospinal Fluid p217tau and Neurofilament Light Chain Levels in Patients with Alzheimer's Disease or Other Neurological Diseases.

Submit: New GeneRIF Correction See all GeneRIFs (192)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Charcot-Marie-Tooth disease type 1F MedGen: C1843164 OMIM: 607734 GeneReviews: Not available	Compare labs
Charcot-Marie-Tooth disease type 2E MedGen: C1843225 OMIM: 607684 GeneReviews: Not available	Compare labs
Charcot-Marie-Tooth disease, dominant intermediate G MedGen: C4693509 OMIM: 617882 GeneReviews: Not available	Compare labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2018-09-17) ClinGen Genome Curation Page Haploinsufficency No evidence available (Last evaluated 2018-09-17) ClinGen Genome Curation PagePubMed

EBI GWAS Catalog

Description
Genome-wide association study of peripheral neuropathy with D-drug-containing regimens in AIDS Clinical Trials Group protocol 384. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

WI-13419 (e-PCR)
- UniSTS:77356

RH71170 (e-PCR)
- UniSTS:8752

MARC_16719-16720:1018026557:1 (e-PCR)
- UniSTS:268085

Nefl (e-PCR), detects polymorphism
- UniSTS:465486

SHGC-6135 (e-PCR)
- UniSTS:47718

GDB:181541 (e-PCR)
- UniSTS:155267

Nfl (e-PCR), detects polymorphism
- UniSTS:144007

STS-R51365 (e-PCR)
- UniSTS:24232

RH120868 (e-PCR)
- UniSTS:24269

WI-16152 (e-PCR)
- UniSTS:24527

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables identical protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables phospholipase binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein domain specific binding	IEA Inferred from Electronic Annotation more info
enables protein-containing complex binding	IEA Inferred from Electronic Annotation more info
enables protein-macromolecule adaptor activity	ISS Inferred from Sequence or Structural Similarity more info
enables structural constituent of cytoskeleton	IDA Inferred from Direct Assay more info	PubMed
enables structural constituent of postsynaptic intermediate filament cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in anterograde axonal transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axonal transport of mitochondrion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in axonogenesis	IEA Inferred from Electronic Annotation more info
involved_in cerebral cortex development	IEA Inferred from Electronic Annotation more info
involved_in hippocampus development	IEA Inferred from Electronic Annotation more info
involved_in intermediate filament organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in intermediate filament polymerization or depolymerization	IEA Inferred from Electronic Annotation more info
involved_in locomotion	IEA Inferred from Electronic Annotation more info
involved_in microtubule cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in motor neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of motor neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in neurofilament bundle assembly	IBA Inferred from Biological aspect of Ancestor more info
involved_in neurofilament bundle assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in neurofilament bundle assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in neurofilament cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in neuromuscular process controlling balance	IEA Inferred from Electronic Annotation more info
involved_in peripheral nervous system axon regeneration	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of axonogenesis	IEA Inferred from Electronic Annotation more info
involved_in postsynaptic intermediate filament cytoskeleton organization	IEA Inferred from Electronic Annotation more info
involved_in postsynaptic modulation of chemical synaptic transmission	IEA Inferred from Electronic Annotation more info
involved_in protein polymerization	IEA Inferred from Electronic Annotation more info
involved_in regulation of axon diameter	IEA Inferred from Electronic Annotation more info
involved_in regulation of synapse maturation	IEA Inferred from Electronic Annotation more info
involved_in response to acrylamide	IEA Inferred from Electronic Annotation more info
involved_in response to corticosterone	IEA Inferred from Electronic Annotation more info
involved_in response to peptide hormone	IEA Inferred from Electronic Annotation more info
involved_in response to sodium arsenite	IEA Inferred from Electronic Annotation more info
involved_in response to toxic substance	IEA Inferred from Electronic Annotation more info
involved_in retrograde axonal transport	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in spinal cord development	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in Schaffer collateral - CA1 synapse	IEA Inferred from Electronic Annotation more info
is_active_in axon	IBA Inferred from Biological aspect of Ancestor more info
located_in axon	IDA Inferred from Direct Assay more info	PubMed
located_in axon cytoplasm	IEA Inferred from Electronic Annotation more info
located_in cholinergic synapse	IEA Inferred from Electronic Annotation more info
is_active_in cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in cytosol	TAS Traceable Author Statement more info
located_in growth cone	IEA Inferred from Electronic Annotation more info
is_active_in intermediate filament	IBA Inferred from Biological aspect of Ancestor more info
located_in neurofilament	IDA Inferred from Direct Assay more info	PubMed
located_in neuromuscular junction	IEA Inferred from Electronic Annotation more info
is_active_in postsynaptic intermediate filament cytoskeleton	IBA Inferred from Biological aspect of Ancestor more info
located_in presynaptic intermediate filament cytoskeleton	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: neurofilament light polypeptide

Names: light molecular weight neurofilament protein; neurofilament protein, light chain; neurofilament subunit NF-L; neurofilament triplet L protein; neurofilament, light polypeptide 68kDa; protein phosphatase 1, regulatory subunit 110

NCBI Reference Sequences (RefSeq)

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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.