Details for: NDUFV2

Gene ID: 4729

Symbol: NDUFV2

Ensembl ID: ENSG00000178127

Description: NADH:ubiquinone oxidoreductase core subunit V2

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: 364.8457
    Cell Significance Index: -56.7500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 245.4627
    Cell Significance Index: -62.2600
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 195.8259
    Cell Significance Index: -80.6700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 180.1691
    Cell Significance Index: -73.2000
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 179.5296
    Cell Significance Index: -84.7600
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 161.3965
    Cell Significance Index: -83.0200
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 126.2850
    Cell Significance Index: -84.7400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 78.2671
    Cell Significance Index: -74.7300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 58.7937
    Cell Significance Index: -72.4900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 28.2826
    Cell Significance Index: -75.7700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 19.8401
    Cell Significance Index: -78.2900
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 15.0352
    Cell Significance Index: -46.1800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 11.7701
    Cell Significance Index: -25.7600
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 5.9214
    Cell Significance Index: 173.9100
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 3.8567
    Cell Significance Index: 35.5200
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 3.1978
    Cell Significance Index: 19.6800
  • Cell Name: peg cell (CL4033014)
    Fold Change: 2.9134
    Cell Significance Index: 67.3100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 2.7778
    Cell Significance Index: 207.0300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 2.5112
    Cell Significance Index: 118.0300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 2.4554
    Cell Significance Index: 1340.9700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 2.3405
    Cell Significance Index: 421.9200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 2.2312
    Cell Significance Index: 274.3500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 2.2216
    Cell Significance Index: 262.0000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 1.9276
    Cell Significance Index: 313.5100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 1.9149
    Cell Significance Index: 100.5400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 1.7940
    Cell Significance Index: 126.8800
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.7779
    Cell Significance Index: 244.1600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.7189
    Cell Significance Index: 222.0700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.6632
    Cell Significance Index: 735.3600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.4117
    Cell Significance Index: 37.1200
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.2088
    Cell Significance Index: 242.4900
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 1.1604
    Cell Significance Index: 24.2900
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.1460
    Cell Significance Index: 30.6000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.1434
    Cell Significance Index: 73.7700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.1384
    Cell Significance Index: 68.3500
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 1.0387
    Cell Significance Index: 133.1500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.9669
    Cell Significance Index: 191.8800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.8600
    Cell Significance Index: 54.2100
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: 0.8565
    Cell Significance Index: 7.3600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.7068
    Cell Significance Index: 8.0300
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.5869
    Cell Significance Index: 6.3800
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5201
    Cell Significance Index: 186.5500
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.4183
    Cell Significance Index: 41.3800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4029
    Cell Significance Index: 76.6800
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.3632
    Cell Significance Index: 12.6200
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 0.3066
    Cell Significance Index: 7.4800
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.3012
    Cell Significance Index: 15.2200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.2704
    Cell Significance Index: 16.6200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.2636
    Cell Significance Index: 193.2400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.2503
    Cell Significance Index: 13.0400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.2482
    Cell Significance Index: 171.6900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.2091
    Cell Significance Index: 4.5300
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.1849
    Cell Significance Index: 139.9200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.1761
    Cell Significance Index: 4.7100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1604
    Cell Significance Index: 12.3100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.1000
    Cell Significance Index: 17.0700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: 0.0374
    Cell Significance Index: 2.9600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.0277
    Cell Significance Index: 7.9800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0134
    Cell Significance Index: -0.2300
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0201
    Cell Significance Index: -12.5800
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0268
    Cell Significance Index: -19.8800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0394
    Cell Significance Index: -4.0200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0413
    Cell Significance Index: -77.8400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0444
    Cell Significance Index: -81.8800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0460
    Cell Significance Index: -2.5800
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0524
    Cell Significance Index: -80.7300
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0581
    Cell Significance Index: -1.6800
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0602
    Cell Significance Index: -81.8100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0882
    Cell Significance Index: -49.7600
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.1059
    Cell Significance Index: -2.9600
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.1249
    Cell Significance Index: -79.3600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1629
    Cell Significance Index: -34.3100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.1801
    Cell Significance Index: -81.7300
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2120
    Cell Significance Index: -24.2900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2637
    Cell Significance Index: -7.5600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.2701
    Cell Significance Index: -12.6000
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -0.2896
    Cell Significance Index: -1.7500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.3090
    Cell Significance Index: -8.4100
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.3855
    Cell Significance Index: -44.9200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.3858
    Cell Significance Index: -20.0400
  • Cell Name: kidney cell (CL1000497)
    Fold Change: -0.4133
    Cell Significance Index: -3.3000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.4597
    Cell Significance Index: -9.7900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.4685
    Cell Significance Index: -8.6600
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.4783
    Cell Significance Index: -12.2200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.4882
    Cell Significance Index: -5.8200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.5545
    Cell Significance Index: -80.6000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.6045
    Cell Significance Index: -19.3600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.6105
    Cell Significance Index: -69.6900
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.7043
    Cell Significance Index: -12.4500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.7377
    Cell Significance Index: -49.6000
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.7403
    Cell Significance Index: -10.9300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.7679
    Cell Significance Index: -79.9600
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.7899
    Cell Significance Index: -21.1700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.8312
    Cell Significance Index: -11.3400
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.8486
    Cell Significance Index: -34.7700
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -1.0144
    Cell Significance Index: -15.2000
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -1.0291
    Cell Significance Index: -45.5200
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -1.1262
    Cell Significance Index: -9.4600
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: -1.1410
    Cell Significance Index: -18.4100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -1.2451
    Cell Significance Index: -47.1500

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. **Location and Expression:** NDUFV2 is primarily expressed in cells with high energy demands, including the basal cell of prostate epithelium, CD4-positive T cells, and myeloid leukocytes. 2. **Structure and Function:** The protein consists of two iron and two sulfur clusters, which are essential for the electron transfer activity and the biogenesis of complex I. 3. **Pathways and Signaling:** NDUFV2 is involved in multiple pathways, including aerobic respiration, cardiac muscle tissue development, and nervous system development. 4. **Interactions and Binding:** The protein interacts with various partners, including ubiquinone, iron-sulfur clusters, and other mitochondrial proteins. **Pathways and Functions:** NDUFV2 is a key player in the following pathways: 1. **Aerobic Respiration:** NDUFV2 is essential for the electron transport chain, which generates ATP through the process of chemiosmosis. 2. **Mitochondrial Electron Transport:** The protein facilitates the transfer of electrons from NADH to ubiquinone, driving the production of ATP. 3. **NADH to Ubiquinone:** NDUFV2 is responsible for the conversion of NADH to ubiquinone, a critical step in the electron transport chain. 4. **Mitochondrial Respiratory Chain Complex I:** The protein is a core subunit of complex I, which is responsible for the transfer of electrons from NADH to ubiquinone. **Clinical Significance:** Dysregulation of NDUFV2 has been implicated in various diseases, including: 1. **Neurodegenerative Disorders:** Mutations in NDUFV2 have been associated with neurodegenerative diseases, such as Parkinson's disease and Alzheimer's disease. 2. **Metabolic Disorders:** Abnormalities in NDUFV2 have been linked to metabolic disorders, such as mitochondrial myopathies and cardiomyopathies. 3. **Cancer:** The protein has been implicated in cancer development and progression, particularly in the context of mitochondrial dysfunction. 4. **Aging and Age-Related Diseases:** NDUFV2 dysfunction has been associated with aging and age-related diseases, including frailty and sarcopenia. In conclusion, NDUFV2 is a critical component of the mitochondrial respiratory chain complex I, playing a vital role in energy production and cellular function. Abnormalities in NDUFV2 have been implicated in various diseases, highlighting the importance of this gene in human health and disease. Further research is needed to fully elucidate the role of NDUFV2 in disease and to develop therapeutic strategies for the treatment of NDUFV2-related disorders.

Genular Protein ID: 2382230211

Symbol: NDUV2_HUMAN

Name: NADH-ubiquinone oxidoreductase 24 kDa subunit

UniProtKB Accession Codes:

P19404 Q9BV41

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CORUM 1 CTD 1 ChEBI 10 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EC 1 EMBL 3 Ensembl 1 ExpressionAtlas 1 GO 13 Gene3D 2 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIR 1 PIRSF 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 2 RefSeq 1 Rhea 4 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TopDownProteomics 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2500970

Title: Mitochondrial NADH-ubiquinone reductase: complementary DNA sequences of import precursors of the bovine and human 24-kDa subunit.

PubMed ID: 2500970

DOI: 10.1021/bi00434a021

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: 12611891

Title: The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification.

PubMed ID: 12611891

DOI: 10.1074/jbc.c300064200

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 22823520

Title: Mitochondrial c-Src regulates cell survival through phosphorylation of respiratory chain components.

PubMed ID: 22823520

DOI: 10.1042/bj20120509

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: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 12754703

Title: Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy.

PubMed ID: 12754703

DOI: 10.1002/humu.10225

PubMed ID: 26008862

Title: Exome sequencing identifies complex I NDUFV2 mutations as a novel cause of Leigh syndrome.

PubMed ID: 26008862

DOI: 10.1016/j.ejpn.2015.05.002

PubMed ID: 28844695

Title: Architecture of human mitochondrial respiratory megacomplex I2III2IV2.

PubMed ID: 28844695

DOI: 10.1016/j.cell.2017.07.050

Sequence Information:

  • Length: 249
  • Mass: 27392
  • Checksum: AAF46ABB0908B177
  • Sequence:
    • MFFSAALRAR AAGLTAHWGR HVRNLHKTVM QNGAGGALFV HRDTPENNPD TPFDFTPENY 
KRIEAIVKNY PEGHKAAAVL PVLDLAQRQN GWLPISAMNK VAEVLQVPPM RVYEVATFYT 
MYNRKPVGKY HIQVCTTTPC MLRNSDSILE AIQKKLGIKV GETTPDKLFT LIEVECLGAC 
VNAPMVQIND NYYEDLTAKD IEEIIDELKA GKIPKPGPRS GRFSCEPAGG LTSLTEPPKG 
PGFGVQAGL

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.