Details for: NEFM

Gene ID: 4741

Symbol: NEFM

Ensembl ID: ENSG00000104722

Description: neurofilament medium 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: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 6.5311
    Cell Significance Index: -20.0600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 2.7856
    Cell Significance Index: 61.0000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 2.4023
    Cell Significance Index: 126.1300
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 2.1474
    Cell Significance Index: 61.2800
  • Cell Name: midget ganglion cell of retina (CL4023188)
    Fold Change: 1.6867
    Cell Significance Index: 17.5700
  • Cell Name: epithelial cell of esophagus (CL0002252)
    Fold Change: 1.0184
    Cell Significance Index: 6.7600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.9241
    Cell Significance Index: 185.3700
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.7992
    Cell Significance Index: 6.1600
  • Cell Name: pyramidal neuron (CL0000598)
    Fold Change: 0.7888
    Cell Significance Index: 6.0500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.6103
    Cell Significance Index: 41.0400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.6049
    Cell Significance Index: 70.5000
  • Cell Name: OFF midget ganglion cell (CL4033047)
    Fold Change: 0.3769
    Cell Significance Index: 4.7000
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2464
    Cell Significance Index: 12.8000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2071
    Cell Significance Index: 12.7300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1822
    Cell Significance Index: 8.0600
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1794
    Cell Significance Index: 6.8000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1195
    Cell Significance Index: 42.8600
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.0875
    Cell Significance Index: 1.8700
  • Cell Name: ON midget ganglion cell (CL4033046)
    Fold Change: 0.0654
    Cell Significance Index: 0.8300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0332
    Cell Significance Index: 5.9900
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.0230
    Cell Significance Index: 0.1900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0214
    Cell Significance Index: 14.7900
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0019
    Cell Significance Index: -1.0600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0067
    Cell Significance Index: -4.1900
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0070
    Cell Significance Index: -5.2200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0104
    Cell Significance Index: -19.5100
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0119
    Cell Significance Index: -21.9300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0142
    Cell Significance Index: -21.9300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0151
    Cell Significance Index: -2.0800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0209
    Cell Significance Index: -15.3000
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0262
    Cell Significance Index: -4.4700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0263
    Cell Significance Index: -19.8900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0276
    Cell Significance Index: -17.5400
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0314
    Cell Significance Index: -1.7600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0335
    Cell Significance Index: -18.3200
  • Cell Name: fallopian tube secretory epithelial cell (CL4030006)
    Fold Change: -0.0381
    Cell Significance Index: -0.5900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: -0.0385
    Cell Significance Index: -17.0200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0420
    Cell Significance Index: -19.0500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0452
    Cell Significance Index: -9.5200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0513
    Cell Significance Index: -14.7700
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: -0.0537
    Cell Significance Index: -2.3400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: -0.0571
    Cell Significance Index: -7.3300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0777
    Cell Significance Index: -9.5600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0998
    Cell Significance Index: -11.3900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.1011
    Cell Significance Index: -20.0700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1186
    Cell Significance Index: -17.2400
  • Cell Name: neural cell (CL0002319)
    Fold Change: -0.1234
    Cell Significance Index: -1.4400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.1420
    Cell Significance Index: -18.3400
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1557
    Cell Significance Index: -15.9000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.1615
    Cell Significance Index: -10.1800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1637
    Cell Significance Index: -19.3000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1713
    Cell Significance Index: -19.6300
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.1766
    Cell Significance Index: -2.1900
  • Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
    Fold Change: -0.1860
    Cell Significance Index: -1.2100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1877
    Cell Significance Index: -19.5400
  • Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
    Fold Change: -0.1897
    Cell Significance Index: -2.5300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1908
    Cell Significance Index: -4.0500
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.1955
    Cell Significance Index: -2.1300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2006
    Cell Significance Index: -4.8100
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2129
    Cell Significance Index: -6.7800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2217
    Cell Significance Index: -3.7100
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2226
    Cell Significance Index: -17.6300
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: -0.2316
    Cell Significance Index: -1.4500
  • Cell Name: neuron (CL0000540)
    Fold Change: -0.2326
    Cell Significance Index: -2.2100
  • Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
    Fold Change: -0.2564
    Cell Significance Index: -6.2100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.2674
    Cell Significance Index: -19.9300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.2730
    Cell Significance Index: -19.3100
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.2828
    Cell Significance Index: -9.2600
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.2966
    Cell Significance Index: -10.3900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.3050
    Cell Significance Index: -14.3400
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.3062
    Cell Significance Index: -8.5600
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3341
    Cell Significance Index: -9.8400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.3373
    Cell Significance Index: -5.7800
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.3923
    Cell Significance Index: -17.7800
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.4043
    Cell Significance Index: -10.0900
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.4137
    Cell Significance Index: -11.0900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.4252
    Cell Significance Index: -8.9000
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.4255
    Cell Significance Index: -15.6200
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.4420
    Cell Significance Index: -15.3600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.4450
    Cell Significance Index: -20.7500
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.5123
    Cell Significance Index: -10.1300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.5279
    Cell Significance Index: -18.5500
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.5285
    Cell Significance Index: -10.6100
  • Cell Name: keratinocyte (CL0000312)
    Fold Change: -0.5329
    Cell Significance Index: -13.3100
  • Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
    Fold Change: -0.5384
    Cell Significance Index: -5.9400
  • Cell Name: OFF-bipolar cell (CL0000750)
    Fold Change: -0.5460
    Cell Significance Index: -4.8100
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.5478
    Cell Significance Index: -6.5300
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.5548
    Cell Significance Index: -17.7700
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.5738
    Cell Significance Index: -14.3100
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.5757
    Cell Significance Index: -7.8600
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.5917
    Cell Significance Index: -12.3500
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: -0.6025
    Cell Significance Index: -4.3600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.6241
    Cell Significance Index: -16.4100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.6344
    Cell Significance Index: -18.1900
  • Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
    Fold Change: -0.6436
    Cell Significance Index: -13.9100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.6494
    Cell Significance Index: -9.3000
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: -0.6526
    Cell Significance Index: -20.6400
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.6596
    Cell Significance Index: -17.6500
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.6640
    Cell Significance Index: -19.5000
  • Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
    Fold Change: -0.6714
    Cell Significance Index: -8.9500

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. **Gene Location and Expression**: The NEFM gene is located on chromosome 17q21.3 and is highly expressed in neurons, particularly in enteric neurons, primary sensory neurons, and motor neurons. 2. **Protein Structure**: The NFM_HUMAN protein is a 56-kDa polypeptide chain that forms part of the neurofilament protein complex. 3. **Function**: Neurofilaments, including the NFM_HUMAN protein, play a crucial role in maintaining neuronal structure, function, and survival. 4. **Pathways and Interactions**: Neurofilaments interact with microtubules, microtubule-associated proteins, and other intermediate filaments, influencing axonal transport, neuronal signaling, and synaptic plasticity. **Pathways and Functions:** 1. **Axonal Transport**: Neurofilaments, including NFM_HUMAN, participate in the regulation of axonal transport, which is essential for the delivery of molecules and organelles to the axon terminals. 2. **Neuronal Survival**: Neurofilaments provide mechanical support and protection to neurons, helping to maintain their structural integrity and function. 3. **Neurofibrillary Tangle Formation**: The accumulation of neurofilaments, including NFM_HUMAN, can contribute to the formation of neurofibrillary tangles, a hallmark of neurodegenerative diseases. 4. **Neurodegenerative Disease Pathogenesis**: Alterations in the NEFM gene have been implicated in neurodegenerative diseases, including Alzheimer's disease, ALS, and FTD, where neurofilament accumulation and dysfunction contribute to neuronal damage and death. **Clinical Significance:** 1. **Neurodegenerative Disease Diagnosis**: The NEFM gene and its protein product offer potential diagnostic markers for neurodegenerative diseases, such as Alzheimer's disease and ALS. 2. **Therapeutic Targeting**: Understanding the role of NFM_HUMAN in neurodegenerative diseases highlights the potential for therapeutic targeting of neurofilaments and their interactions with other cellular components. 3. **Neuroprotective Strategies**: The NEFM gene and its protein product may serve as a target for neuroprotective interventions aimed at preventing or slowing disease progression in neurodegenerative diseases. 4. **Basic Research Implications**: The NEFM gene and its protein product provide valuable insights into the molecular mechanisms underlying neuronal function and dysfunction, highlighting the importance of basic research in understanding the complexities of neurodegenerative diseases. In conclusion, the NEFM gene and its protein product, NFM_HUMAN, play a crucial role in maintaining neuronal structure and function, and alterations in the NEFM gene have been implicated in neurodegenerative diseases. Further research on the NEFM gene and its protein product is essential for understanding the molecular mechanisms underlying neurodegenerative diseases and developing effective therapeutic strategies.

Genular Protein ID: 2558696816

Symbol: NFM_HUMAN

Name: Neurofilament medium polypeptide

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 3608989

Title: The human mid-size neurofilament subunit: a repeated protein sequence and the relationship of its gene to the intermediate filament gene family.

PubMed ID: 3608989

DOI: 10.1002/j.1460-2075.1987.tb02409.x

PubMed ID: 11230166

Title: Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.

PubMed ID: 11230166

DOI: 10.1101/gr.gr1547r

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

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: 2450354

Title: Identification of the major multiphosphorylation site in mammalian neurofilaments.

PubMed ID: 2450354

DOI: 10.1073/pnas.85.6.1998

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: 21406692

Title: System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.

PubMed ID: 21406692

DOI: 10.1126/scisignal.2001570

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

Sequence Information:

  • Length: 916
  • Mass: 102472
  • Checksum: 187B16CA6C6BF092
  • Sequence:
  • MSYTLDSLGN PSAYRRVTET RSSFSRVSGS PSSGFRSQSW SRGSPSTVSS SYKRSMLAPR 
    LAYSSAMLSS AESSLDFSQS SSLLNGGSGP GGDYKLSRSN EKEQLQGLND RFAGYIEKVH 
    YLEQQNKEIE AEIQALRQKQ ASHAQLGDAY DQEIRELRAT LEMVNHEKAQ VQLDSDHLEE 
    DIHRLKERFE EEARLRDDTE AAIRALRKDI EEASLVKVEL DKKVQSLQDE VAFLRSNHEE 
    EVADLLAQIQ ASHITVERKD YLKTDISTAL KEIRSQLESH SDQNMHQAEE WFKCRYAKLT 
    EAAEQNKEAI RSAKEEIAEY RRQLQSKSIE LESVRGTKES LERQLSDIEE RHNHDLSSYQ 
    DTIQQLENEL RGTKWEMARH LREYQDLLNV KMALDIEIAA YRKLLEGEET RFSTFAGSIT 
    GPLYTHRPPI TISSKIQKPK VEAPKLKVQH KFVEEIIEET KVEDEKSEME EALTAITEEL 
    AVSMKEEKKE AAEEKEEEPE AEEEEVAAKK SPVKATAPEV KEEEGEKEEE EGQEEEEEED 
    EGAKSDQAEE GGSEKEGSSE KEEGEQEEGE TEAEAEGEEA EAKEEKKVEE KSEEVATKEE 
    LVADAKVEKP EKAKSPVPKS PVEEKGKSPV PKSPVEEKGK SPVPKSPVEE KGKSPVPKSP 
    VEEKGKSPVS KSPVEEKAKS PVPKSPVEEA KSKAEVGKGE QKEEEEKEVK EAPKEEKVEK 
    KEEKPKDVPE KKKAESPVKE EAVAEVVTIT KSVKVHLEKE TKEEGKPLQQ EKEKEKAGGE 
    GGSEEEGSDK GAKGSRKEDI AVNGEVEGKE EVEQETKEKG SGREEEKGVV TNGLDLSPAD 
    EKKGGDKSEE KVVVTKTVEK ITSEGGDGAT KYITKSVTVT QKVEEHEETF EEKLVSTKKV 
    EKVTSHAIVK EVTQSD

Genular Protein ID: 2388031198

Symbol: Q9UK51_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Sequence Information:

  • Length: 260
  • Mass: 28427
  • Checksum: AFA61CA51A802448
  • Sequence:
  • KTKVEAPKLK VQHKFVEEII EETKVEDEKS EMEEALTAIT EELAVSMKEE KKEAAEEKEE 
    EPEAEEEEVA AKKSPVKATA PEVKEEEGEK EEEEGQEEEE EEDEGAKSDQ AEEGGSEKEG 
    SSEKEEGEQE EGETEAEAEG EEAEAKEEKK VEEKSEEVAT KEELVADAKV EKPEKAKSPV 
    PKSPVEEKGK SPVPKSPVEE KGKSPVPKSP VEEKGKSPVP KSPVEEKGKS PVSKSPVEEK 
    AKSPVPKSPV EEAKSKAEVG

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.