Details for: NEFL

Gene ID: 4747

Symbol: NEFL

Ensembl ID: ENSG00000277586

Description: neurofilament light chain

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 11.3064
    Cell Significance Index: 87.8700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 6.1396
    Cell Significance Index: 322.3500
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 4.0910
    Cell Significance Index: 117.8700
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: 3.2794
    Cell Significance Index: 28.1800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 2.9573
    Cell Significance Index: 181.3100
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 2.0473
    Cell Significance Index: 13.5900
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 1.9424
    Cell Significance Index: 55.4300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.5182
    Cell Significance Index: 304.5400
  • Cell Name: mammary gland epithelial cell (CL0002327)
    Fold Change: 1.0773
    Cell Significance Index: 4.9600
  • Cell Name: BEST4+ enteroycte (CL4030026)
    Fold Change: 0.6540
    Cell Significance Index: 9.8600
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.5786
    Cell Significance Index: 4.4600
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.5586
    Cell Significance Index: 6.9700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.5390
    Cell Significance Index: 36.2400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.5117
    Cell Significance Index: 50.6200
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4890
    Cell Significance Index: 93.0500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.4584
    Cell Significance Index: 413.8900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.4540
    Cell Significance Index: 46.3800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3336
    Cell Significance Index: 119.6600
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2383
    Cell Significance Index: 14.6500
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: 0.2137
    Cell Significance Index: 2.6500
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2104
    Cell Significance Index: 34.2300
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 0.1392
    Cell Significance Index: 1.4500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.1167
    Cell Significance Index: 12.6900
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.0967
    Cell Significance Index: 0.7000
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: 0.0792
    Cell Significance Index: 1.0000
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: 0.0136
    Cell Significance Index: 0.2100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0083
    Cell Significance Index: 6.0800
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0157
    Cell Significance Index: -29.4900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0191
    Cell Significance Index: -35.1600
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0194
    Cell Significance Index: -0.6800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0229
    Cell Significance Index: -35.2300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0392
    Cell Significance Index: -29.0500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0404
    Cell Significance Index: -30.5800
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0559
    Cell Significance Index: -2.4300
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0566
    Cell Significance Index: -31.9300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0569
    Cell Significance Index: -35.5300
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0697
    Cell Significance Index: -31.6400
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0720
    Cell Significance Index: -1.8000
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0775
    Cell Significance Index: -34.2700
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.0795
    Cell Significance Index: -1.0600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.0980
    Cell Significance Index: -4.4400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1043
    Cell Significance Index: -30.0100
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1090
    Cell Significance Index: -4.8200
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.1299
    Cell Significance Index: -7.8000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.1301
    Cell Significance Index: -9.0000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1367
    Cell Significance Index: -15.9300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.1423
    Cell Significance Index: -25.6600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1512
    Cell Significance Index: -31.8500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1536
    Cell Significance Index: -30.4900
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1558
    Cell Significance Index: -9.8200
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.1665
    Cell Significance Index: -3.5600
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1791
    Cell Significance Index: -26.0400
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2059
    Cell Significance Index: -4.3700
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.2123
    Cell Significance Index: -8.0400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.2177
    Cell Significance Index: -37.1800
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.2210
    Cell Significance Index: -27.1800
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2223
    Cell Significance Index: -8.1600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2322
    Cell Significance Index: -26.6000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2336
    Cell Significance Index: -18.5000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.2649
    Cell Significance Index: -36.3800
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2815
    Cell Significance Index: -6.7500
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2825
    Cell Significance Index: -15.8500
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: -0.3065
    Cell Significance Index: -2.5300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3082
    Cell Significance Index: -9.8700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.3097
    Cell Significance Index: -39.7000
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3313
    Cell Significance Index: -10.5500
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.3818
    Cell Significance Index: -7.9200
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.4204
    Cell Significance Index: -4.5800
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4539
    Cell Significance Index: -14.8600
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.4600
    Cell Significance Index: -4.3600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.5234
    Cell Significance Index: -11.3400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.5237
    Cell Significance Index: -14.6400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.5358
    Cell Significance Index: -18.7700
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.5426
    Cell Significance Index: -6.3300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.5787
    Cell Significance Index: -12.3300
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.6091
    Cell Significance Index: -17.9400
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.6851
    Cell Significance Index: -17.0900
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.6883
    Cell Significance Index: -13.6100
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.7183
    Cell Significance Index: -17.9400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.7194
    Cell Significance Index: -37.3700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.7484
    Cell Significance Index: -15.0300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.7614
    Cell Significance Index: -26.4600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.7681
    Cell Significance Index: -36.1000
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.8361
    Cell Significance Index: -17.4500
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.8571
    Cell Significance Index: -39.9600
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.8713
    Cell Significance Index: -21.1100
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.9004
    Cell Significance Index: -15.4300
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: -0.9177
    Cell Significance Index: -7.8000
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.9451
    Cell Significance Index: -20.4200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -1.0086
    Cell Significance Index: -26.5200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -1.0142
    Cell Significance Index: -12.0900
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -1.0611
    Cell Significance Index: -28.3900
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: -1.1103
    Cell Significance Index: -12.2500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -1.1209
    Cell Significance Index: -32.1300
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -1.1268
    Cell Significance Index: -15.0200
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -1.1397
    Cell Significance Index: -24.9600
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -1.1616
    Cell Significance Index: -19.4400
  • Cell Name: cerebral cortex endothelial cell (CL1001602)
    Fold Change: -1.2041
    Cell Significance Index: -24.5000
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -1.2112
    Cell Significance Index: -32.3400
  • Cell Name: astrocyte of the cerebral cortex (CL0002605)
    Fold Change: -1.2388
    Cell Significance Index: -21.4200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** 1. **Cytoskeletal component**: Neurofilaments are a type of intermediate filament protein that provides structural support and mechanical strength to neurons. 2. **Axonal transport**: Neurofilaments are involved in the transport of axonal organelles, such as mitochondria, and play a crucial role in maintaining axonal integrity. 3. **Neuronal function**: Neurofilaments are involved in the regulation of neuronal function, including synaptic transmission and neurotransmitter release. 4. **Signaling pathways**: The NEFL gene is involved in various signaling pathways, including the activation of NMDA receptors, MAPK signaling cascades, and Ras activation. 5. **Cellular localization**: The NEFL gene is expressed in various neuronal cell types, including glycinergic neurons, primary sensory neurons, and enteric neurons. **Pathways and Functions** 1. **Activation of NMDA receptors**: The NEFL gene is involved in the activation of NMDA receptors, which are essential for synaptic transmission and neuronal function. 2. **Axonal transport**: Neurofilaments play a crucial role in the transport of axonal organelles, including mitochondria, and are involved in the regulation of axonal transport. 3. **Assembly and cell surface presentation of NMDA receptors**: The NEFL gene is involved in the assembly and cell surface presentation of NMDA receptors, which is essential for synaptic transmission. 4. **Regulation of axon diameter**: Neurofilaments regulate the diameter of axons and are involved in the regulation of axonal growth and development. 5. **Regulation of synapse maturation**: Neurofilaments are involved in the regulation of synapse maturation and are essential for the development and maintenance of synaptic connections. **Clinical Significance** 1. **Neurodegenerative diseases**: Mutations in the NEFL gene have been associated with neurodegenerative diseases, such as amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). 2. **Neurodevelopmental disorders**: The NEFL gene has been implicated in neurodevelopmental disorders, such as autism spectrum disorder (ASD) and attention deficit hyperactivity disorder (ADHD). 3. **Neuromuscular junction disorders**: Neurofilaments are involved in the regulation of neuromuscular junction function and are essential for the development and maintenance of neuromuscular synapses. 4. **Cerebral cortex development**: The NEFL gene is involved in the development and maturation of the cerebral cortex and is essential for the regulation of neuronal function and behavior. In conclusion, the NEFL gene plays a crucial role in maintaining neuronal function, axonal transport, and synaptic transmission. Mutations in the NEFL gene have been associated with various neurodegenerative and neurodevelopmental disorders, highlighting the importance of this gene in human health and disease.

Genular Protein ID: 634453184

Symbol: NFL_HUMAN

Name: Neurofilament light polypeptide

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 3034332

Title: The structure of a human neurofilament gene (NF-L): a unique exon-intron organization in the intermediate filament gene family.

PubMed ID: 3034332

DOI: 10.1016/0167-4781(87)90041-8

PubMed ID: 12432080

Title: Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation.

PubMed ID: 12432080

DOI: 10.1242/jcs.00148

PubMed ID: 16421571

Title: DNA sequence and analysis of human chromosome 8.

PubMed ID: 16421571

DOI: 10.1038/nature04406

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8180132

Title: AP-1 and Krox-24 transcription factors activate the neurofilament light gene promoter in P19 embryonal carcinoma cells.

PubMed ID: 8180132

PubMed ID: 6135695

Title: Highly acidic proteins from human brain: purification and properties of Glu-50 protein.

PubMed ID: 6135695

DOI: 10.1093/jb/93.3.825

PubMed ID: 8621664

Title: PKN associates and phosphorylates the head-rod domain of neurofilament protein.

PubMed ID: 8621664

DOI: 10.1074/jbc.271.16.9816

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22223895

Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.

PubMed ID: 22223895

DOI: 10.1074/mcp.m111.015131

PubMed ID: 10841809

Title: A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.

PubMed ID: 10841809

DOI: 10.1086/302962

PubMed ID: 11220745

Title: Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.

PubMed ID: 11220745

DOI: 10.1002/1531-8249(20010201)49:2<245::aid-ana45>3.0.co;2-a

PubMed ID: 12481988

Title: A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.

PubMed ID: 12481988

DOI: 10.1007/s10048-002-0138-4

PubMed ID: 12566280

Title: Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

PubMed ID: 12566280

DOI: 10.1093/brain/awg059

PubMed ID: 15241803

Title: Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.

PubMed ID: 15241803

DOI: 10.1002/humu.9261

PubMed ID: 14733962

Title: The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.

PubMed ID: 14733962

DOI: 10.1016/j.nmd.2003.10.003

PubMed ID: 17052987

Title: Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.

PubMed ID: 17052987

DOI: 10.1093/brain/awl284

PubMed ID: 22206013

Title: The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

PubMed ID: 22206013

DOI: 10.1371/journal.pone.0029393

PubMed ID: 25877835

Title: NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.

PubMed ID: 25877835

DOI: 10.1007/s00415-015-7709-4

PubMed ID: 25802885

Title: Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.

PubMed ID: 25802885

DOI: 10.1002/mgg3.126

PubMed ID: 26645395

Title: NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.

PubMed ID: 26645395

DOI: 10.1007/s00415-015-7985-z

Sequence Information:

  • Length: 543
  • Mass: 61517
  • Checksum: 98C1712D8ACFF33A
  • Sequence:
  • MSSFSYEPYY STSYKRRYVE TPRVHISSVR SGYSTARSAY SSYSAPVSSS LSVRRSYSSS 
    SGSLMPSLEN LDLSQVAAIS NDLKSIRTQE KAQLQDLNDR FASFIERVHE LEQQNKVLEA 
    ELLVLRQKHS EPSRFRALYE QEIRDLRLAA EDATNEKQAL QGEREGLEET LRNLQARYEE 
    EVLSREDAEG RLMEARKGAD EAALARAELE KRIDSLMDEI SFLKKVHEEE IAELQAQIQY 
    AQISVEMDVT KPDLSAALKD IRAQYEKLAA KNMQNAEEWF KSRFTVLTES AAKNTDAVRA 
    AKDEVSESRR LLKAKTLEIE ACRGMNEALE KQLQELEDKQ NADISAMQDT INKLENELRT 
    TKSEMARYLK EYQDLLNVKM ALDIEIAAYR KLLEGEETRL SFTSVGSITS GYSQSSQVFG 
    RSAYGGLQTS SYLMSTRSFP SYYTSHVQEE QIEVEETIEA AKAEEAKDEP PSEGEAEEEE 
    KDKEEAEEEE AAEEEEAAKE ESEEAKEEEE GGEGEEGEET KEAEEEEKKV EGAGEEQAAK 
    KKD

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.