Details for: NEFH

Gene ID: 4744

Symbol: NEFH

Ensembl ID: ENSG00000100285

Description: neurofilament heavy 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: polychromatophilic erythroblast (CL0000550)
    Fold Change: 45.9673
    Cell Significance Index: -7.1500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 26.6910
    Cell Significance Index: -6.7700
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 14.0430
    Cell Significance Index: -5.7900
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 5.8964
    Cell Significance Index: -7.2700
  • Cell Name: germ cell (CL0000586)
    Fold Change: 2.8905
    Cell Significance Index: 21.8300
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 2.2504
    Cell Significance Index: 10.9500
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 1.8389
    Cell Significance Index: 23.5500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.3612
    Cell Significance Index: 36.4800
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.0976
    Cell Significance Index: 57.6300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.0154
    Cell Significance Index: 193.2400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.6962
    Cell Significance Index: 68.8700
  • Cell Name: parasol ganglion cell of retina (CL4023189)
    Fold Change: 0.6431
    Cell Significance Index: 2.0600
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6144
    Cell Significance Index: 554.7300
  • Cell Name: luminal cell of prostate epithelium (CL0002340)
    Fold Change: 0.5063
    Cell Significance Index: 5.2400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: 0.4822
    Cell Significance Index: 6.9100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3604
    Cell Significance Index: 58.6200
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3331
    Cell Significance Index: 36.2300
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.2505
    Cell Significance Index: 3.5900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2347
    Cell Significance Index: 10.6400
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.2210
    Cell Significance Index: 44.3400
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.2145
    Cell Significance Index: 6.1200
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: 0.2091
    Cell Significance Index: 2.9400
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.1995
    Cell Significance Index: 3.2000
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.1844
    Cell Significance Index: 2.3000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.1776
    Cell Significance Index: 10.6600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1649
    Cell Significance Index: 22.6500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.1643
    Cell Significance Index: 11.3700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.1630
    Cell Significance Index: 3.4600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.1320
    Cell Significance Index: 3.4700
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1181
    Cell Significance Index: 81.6900
  • Cell Name: theca cell (CL0000503)
    Fold Change: 0.0945
    Cell Significance Index: 0.5600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0826
    Cell Significance Index: 29.6400
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.0727
    Cell Significance Index: 0.5600
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 0.0722
    Cell Significance Index: 0.3600
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.0713
    Cell Significance Index: 1.0000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.0576
    Cell Significance Index: 1.6600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.0563
    Cell Significance Index: 1.2200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.0370
    Cell Significance Index: 4.3100
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: 0.0313
    Cell Significance Index: 0.4000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.0259
    Cell Significance Index: 1.6300
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: 0.0254
    Cell Significance Index: 0.6300
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.0230
    Cell Significance Index: 0.1900
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0145
    Cell Significance Index: 0.5100
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.0091
    Cell Significance Index: 0.1800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0070
    Cell Significance Index: 1.2600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.0020
    Cell Significance Index: -0.0500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0034
    Cell Significance Index: -6.3100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0037
    Cell Significance Index: -6.7700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0045
    Cell Significance Index: -6.9400
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0053
    Cell Significance Index: -2.9100
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0060
    Cell Significance Index: -8.1100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0084
    Cell Significance Index: -6.1900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0088
    Cell Significance Index: -6.5000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0098
    Cell Significance Index: -6.2200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0103
    Cell Significance Index: -4.5500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0125
    Cell Significance Index: -7.0600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0141
    Cell Significance Index: -2.7900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0149
    Cell Significance Index: -6.7400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0156
    Cell Significance Index: -0.5000
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0159
    Cell Significance Index: -0.1700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0171
    Cell Significance Index: -4.9200
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.0199
    Cell Significance Index: -1.2200
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.0204
    Cell Significance Index: -0.4100
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: -0.0215
    Cell Significance Index: -0.4600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0243
    Cell Significance Index: -2.9900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0251
    Cell Significance Index: -0.4200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.0280
    Cell Significance Index: -0.7200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0305
    Cell Significance Index: -0.6500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0367
    Cell Significance Index: -4.7400
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0382
    Cell Significance Index: -8.0400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0394
    Cell Significance Index: -5.0500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0400
    Cell Significance Index: -5.8100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0423
    Cell Significance Index: -7.2300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0456
    Cell Significance Index: -4.6600
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.0464
    Cell Significance Index: -0.5700
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0492
    Cell Significance Index: -1.0200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0552
    Cell Significance Index: -3.7100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0565
    Cell Significance Index: -6.6600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0628
    Cell Significance Index: -7.2000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.0641
    Cell Significance Index: -3.9400
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.0659
    Cell Significance Index: -2.1000
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.0664
    Cell Significance Index: -3.1200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.0677
    Cell Significance Index: -1.8100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.0702
    Cell Significance Index: -1.4700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0708
    Cell Significance Index: -7.3700
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -0.0765
    Cell Significance Index: -1.2600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.0803
    Cell Significance Index: -4.1700
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.0806
    Cell Significance Index: -0.9400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.0808
    Cell Significance Index: -2.8300
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.0864
    Cell Significance Index: -2.2200
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0922
    Cell Significance Index: -4.0100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0930
    Cell Significance Index: -7.1400
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.0973
    Cell Significance Index: -7.2500
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.1002
    Cell Significance Index: -3.2800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1029
    Cell Significance Index: -4.5500
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1077
    Cell Significance Index: -3.0100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1081
    Cell Significance Index: -6.9800
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.1086
    Cell Significance Index: -2.7100
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1087
    Cell Significance Index: -5.6600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1097
    Cell Significance Index: -2.6300

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** The NEFH gene is a single-copy gene located on chromosome 17q11.2. It is highly conserved across species, with a high degree of sequence similarity to its orthologs in other vertebrates. The NEFH gene encodes a large protein, the neurofilament heavy polypeptide (NFH), which is composed of 1020 amino acids. The NFH protein is a key component of neurofilaments, which are composed of three subunits: light, medium, and heavy. The heavy subunit (NFH) is responsible for the assembly and stabilization of neurofilaments in the axon. **Pathways and Functions** The NEFH gene is involved in several cellular pathways, including: 1. **Cytoskeleton organization**: The NFH protein plays a critical role in the assembly and stabilization of neurofilaments, which are essential for maintaining the structural integrity of the axon. 2. **Axonogenesis**: The NEFH gene is involved in the formation and maintenance of axons, which are critical for neuronal function and connectivity. 3. **Microtubule cytoskeleton organization**: The NFH protein interacts with microtubules, which are essential for axonal transport and neuronal function. 4. **Protein binding**: The NFH protein interacts with various proteins, including kinesin, dynein, and tubulin, which are involved in axonal transport and cytoskeleton organization. **Clinical Significance** Mutations in the NEFH gene have been associated with several neurodegenerative disorders, including: 1. **Amyotrophic lateral sclerosis (ALS)**: Mutations in the NEFH gene have been found in approximately 10-15% of ALS cases, and are associated with a more aggressive disease course. 2. **Frontotemporal dementia (FTD)**: Mutations in the NEFH gene have been found in approximately 10-20% of FTD cases, and are associated with a more aggressive disease course. 3. **Neurodegenerative disorders**: Mutations in the NEFH gene have also been found in other neurodegenerative disorders, including Parkinson's disease, Huntington's disease, and Alzheimer's disease. In addition to its role in neurodegenerative disorders, the NEFH gene is also of interest in the study of neuronal development and function. The NEFH gene is highly expressed in the brain, particularly in the motor cortex and spinal cord, and is involved in the formation and maintenance of the cytoskeleton. Further studies are needed to fully understand the role of the NEFH gene in neuronal development and function, and to develop new therapeutic strategies for neurodegenerative disorders.

Genular Protein ID: 3805059323

Symbol: NFH_HUMAN

Name: Neurofilament heavy polypeptide

UniProtKB Accession Codes:

P12036 B4DYY4 Q96HF8 Q9UJS7 Q9UQ14

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 CarbonylDB 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 10 Ensembl 1 GO 26 Gene3D 3 GeneCards 1 GeneReviews 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 RefSeq 1 SIGNOR 1 SMART 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 3138108

Title: The structure and organization of the human heavy neurofilament subunit (NF-H) and the gene encoding it.

PubMed ID: 3138108

DOI: 10.1002/j.1460-2075.1988.tb03032.x

PubMed ID: 10048485

Title: Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

PubMed ID: 10048485

DOI: 10.1093/dnares/5.6.355

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 10591208

Title: The DNA sequence of human chromosome 22.

PubMed ID: 10591208

DOI: 10.1038/990031

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: 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: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 27040688

Title: Cryptic amyloidogenic elements in the 3' UTRs of neurofilament genes trigger axonal neuropathy.

PubMed ID: 27040688

DOI: 10.1016/j.ajhg.2016.02.022

PubMed ID: 7849698

Title: Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis.

PubMed ID: 7849698

DOI: 10.1093/hmg/3.10.1757

Sequence Information:

  • Length: 1020
  • Mass: 111838
  • Checksum: 43DBA75CF1727197
  • Sequence:
    • MMSFGGADAL LGAPFAPLHG GGSLHYALAR KGGAGGTRSA AGSSSGFHSW TRTSVSSVSA 
SPSRFRGAGA ASSTDSLDTL SNGPEGCMVA VATSRSEKEQ LQALNDRFAG YIDKVRQLEA 
HNRSLEGEAA ALRQQQAGRS AMGELYEREV REMRGAVLRL GAARGQLRLE QEHLLEDIAH 
VRQRLDDEAR QREEAEAAAR ALARFAQEAE AARVDLQKKA QALQEECGYL RRHHQEEVGE 
LLGQIQGSGA AQAQMQAETR DALKCDVTSA LREIRAQLEG HAVQSTLQSE EWFRVRLDRL 
SEAAKVNTDA MRSAQEEITE YRRQLQARTT ELEALKSTKD SLERQRSELE DRHQADIASY 
QEAIQQLDAE LRNTKWEMAA QLREYQDLLN VKMALDIEIA AYRKLLEGEE CRIGFGPIPF 
SLPEGLPKIP SVSTHIKVKS EEKIKVVEKS EKETVIVEEQ TEETQVTEEV TEEEEKEAKE 
EEGKEEEGGE EEEAEGGEEE TKSPPAEEAA SPEKEAKSPV KEEAKSPAEA KSPEKEEAKS 
PAEVKSPEKA KSPAKEEAKS PPEAKSPEKE EAKSPAEVKS PEKAKSPAKE EAKSPAEAKS 
PEKAKSPVKE EAKSPAEAKS PVKEEAKSPA EVKSPEKAKS PTKEEAKSPE KAKSPEKEEA 
KSPEKAKSPV KAEAKSPEKA KSPVKAEAKS PEKAKSPVKE EAKSPEKAKS PVKEEAKSPE 
KAKSPVKEEA KTPEKAKSPV KEEAKSPEKA KSPEKAKTLD VKSPEAKTPA KEEARSPADK 
FPEKAKSPVK EEVKSPEKAK SPLKEDAKAP EKEIPKKEEV KSPVKEEEKP QEVKVKEPPK 
KAEEEKAPAT PKTEEKKDSK KEEAPKKEAP KPKVEEKKEP AVEKPKESKV EAKKEEAEDK 
KKVPTPEKEA PAKVEVKEDA KPKEKTEVAK KEPDDAKAKE PSKPAEKKEA APEKKDTKEE 
KAKKPEEKPK TEAKAKEDDK TLSKEPSKPK AEKAEKSSST DQKDSKPPEK ATEDKAAKGK

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.