Details for: NDUFA2

Gene ID: 4695

Symbol: NDUFA2

Ensembl ID: ENSG00000131495

Description: NADH:ubiquinone oxidoreductase subunit A2

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: 307.2418
    Cell Significance Index: -47.7900
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 224.8235
    Cell Significance Index: -57.0300
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 178.0081
    Cell Significance Index: -73.3300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 154.8962
    Cell Significance Index: -73.1300
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 138.5149
    Cell Significance Index: -71.2500
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 109.1246
    Cell Significance Index: -73.2300
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 53.9273
    Cell Significance Index: -66.4900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 20.0533
    Cell Significance Index: -53.7200
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 18.7403
    Cell Significance Index: -73.9500
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 16.5231
    Cell Significance Index: -50.7500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 8.2268
    Cell Significance Index: -18.0100
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 3.9764
    Cell Significance Index: 185.4000
  • Cell Name: peg cell (CL4033014)
    Fold Change: 2.7831
    Cell Significance Index: 64.3000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 2.7067
    Cell Significance Index: 24.9300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 2.5144
    Cell Significance Index: 453.2700
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 2.5037
    Cell Significance Index: 19.9900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 2.3017
    Cell Significance Index: 1257.0400
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 2.2723
    Cell Significance Index: 279.4000
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 2.0709
    Cell Significance Index: 108.7300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 2.0456
    Cell Significance Index: 92.7200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 2.0334
    Cell Significance Index: 279.2400
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 2.0301
    Cell Significance Index: 239.4100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 1.9322
    Cell Significance Index: 90.8100
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 1.7903
    Cell Significance Index: 52.5800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.7663
    Cell Significance Index: 46.4500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 1.7656
    Cell Significance Index: 131.5900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 1.6207
    Cell Significance Index: 44.1200
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 1.4499
    Cell Significance Index: 93.5400
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 1.4251
    Cell Significance Index: 100.7900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.4170
    Cell Significance Index: 626.4700
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 1.4137
    Cell Significance Index: 16.0600
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 1.3818
    Cell Significance Index: 25.5400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.3206
    Cell Significance Index: 68.6000
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 1.2349
    Cell Significance Index: 7.6000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 1.1493
    Cell Significance Index: 24.9000
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 1.1384
    Cell Significance Index: 145.9400
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.0665
    Cell Significance Index: 15.9800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 1.0453
    Cell Significance Index: 135.0500
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 1.0176
    Cell Significance Index: 21.3000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.9856
    Cell Significance Index: 62.1200
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.8602
    Cell Significance Index: 6.6300
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.5743
    Cell Significance Index: 98.0700
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.5269
    Cell Significance Index: 104.5600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5057
    Cell Significance Index: 96.2300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.3711
    Cell Significance Index: 9.9100
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.3092
    Cell Significance Index: 30.5900
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.2120
    Cell Significance Index: 2.3100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.2088
    Cell Significance Index: 153.0700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.1783
    Cell Significance Index: 134.9900
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0397
    Cell Significance Index: 0.6700
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.0373
    Cell Significance Index: 6.0700
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.0124
    Cell Significance Index: 0.4300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0008
    Cell Significance Index: -0.0600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: -0.0084
    Cell Significance Index: -3.0300
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0191
    Cell Significance Index: -1.9500
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0192
    Cell Significance Index: -14.2000
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0237
    Cell Significance Index: -44.5900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: -0.0321
    Cell Significance Index: -6.4300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0338
    Cell Significance Index: -62.2500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0375
    Cell Significance Index: -23.4400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0465
    Cell Significance Index: -71.5300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0566
    Cell Significance Index: -77.0000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0856
    Cell Significance Index: -48.2700
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0866
    Cell Significance Index: -55.0100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1271
    Cell Significance Index: -4.0700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.1329
    Cell Significance Index: -4.6700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.1343
    Cell Significance Index: -60.9600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.1448
    Cell Significance Index: -16.5900
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1452
    Cell Significance Index: -30.5800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.2009
    Cell Significance Index: -57.8100
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.2295
    Cell Significance Index: -6.5800
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2685
    Cell Significance Index: -6.8600
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.3053
    Cell Significance Index: -35.5800
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -0.3872
    Cell Significance Index: -10.8200
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.4160
    Cell Significance Index: -60.4700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.4850
    Cell Significance Index: -13.0000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.4927
    Cell Significance Index: -13.1800
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.5443
    Cell Significance Index: -62.1400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.5585
    Cell Significance Index: -7.6200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.5727
    Cell Significance Index: -35.2000
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.5882
    Cell Significance Index: -10.4000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: -0.5950
    Cell Significance Index: -64.7200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.7041
    Cell Significance Index: -73.3200
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.7533
    Cell Significance Index: -8.9800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.8433
    Cell Significance Index: -64.7200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.8598
    Cell Significance Index: -48.2500
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.9143
    Cell Significance Index: -9.4700
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.9285
    Cell Significance Index: -62.4300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -1.0161
    Cell Significance Index: -62.3000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -1.1290
    Cell Significance Index: -32.5300
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -1.2645
    Cell Significance Index: -7.6400
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -1.4141
    Cell Significance Index: -18.1100
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.4215
    Cell Significance Index: -41.8700
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -1.4337
    Cell Significance Index: -52.6300
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -1.4511
    Cell Significance Index: -30.9100
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -1.5143
    Cell Significance Index: -12.7200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -1.5256
    Cell Significance Index: -67.4800
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -1.6860
    Cell Significance Index: -69.0800
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -1.6946
    Cell Significance Index: -42.3600
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -1.6979
    Cell Significance Index: -29.2700

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** NDUFA2 is a 30-kDa protein that belongs to the NADH dehydrogenase family. It is a subunit of Complex I, which is the first and largest component of the mitochondrial ETC. The NDUFA2 subunit is highly conserved across species, suggesting its critical importance in maintaining mitochondrial function. The protein is composed of two domains: the N-terminal domain, which interacts with NADH, and the C-terminal domain, which interacts with ubiquinone. **Pathways and Functions** NDUFA2 is integral to the following pathways: 1. **Aerobic Respiration**: NDUFA2 participates in the electron transport chain, where it facilitates the transfer of electrons from NADH to ubiquinone, generating the PMF. 2. **Mitochondrial Electron Transport**: As a subunit of Complex I, NDUFA2 contributes to the overall electron transport process, ensuring the proper functioning of the mitochondrial ETC. 3. **Proton Motive Force-driven ATP Synthesis**: The PMF generated by the electron transport chain drives the synthesis of ATP through chemiosmosis. 4. **Heat Production by Uncoupling Proteins**: NDUFA2 is also involved in the regulation of heat production by uncoupling proteins, which can lead to the dissipating of energy as heat. **Clinical Significance** Dysregulation of NDUFA2 has been implicated in various diseases, including: 1. **Mitochondrial Myopathies**: Mutations in the NDUFA2 gene have been associated with mitochondrial myopathies, such as MERRF (Myoclonic Epilepsy with Ragged-Red Fibers) and MELAS (Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes). 2. **Neurodegenerative Diseases**: NDUFA2 has been linked to neurodegenerative diseases, such as Alzheimer's disease, Parkinson's disease, and Huntington's disease, where mitochondrial dysfunction plays a critical role. 3. **Cancer**: Altered expression of NDUFA2 has been observed in various types of cancer, suggesting its potential role as a tumor suppressor gene. 4. **Metabolic Disorders**: NDUFA2 has been implicated in metabolic disorders, such as diabetes and obesity, where mitochondrial dysfunction contributes to energy metabolism dysregulation. In conclusion, NDUFA2 is a crucial component of the mitochondrial electron transport chain, playing a vital role in the generation of the proton motive force and ATP synthesis. Its dysregulation has been implicated in various diseases, highlighting the importance of NDUFA2 in maintaining mitochondrial function and overall health. Further research is necessary to fully elucidate the mechanisms by which NDUFA2 contributes to disease pathogenesis and to explore its potential as a therapeutic target.

Genular Protein ID: 2202017079

Symbol: NDUA2_HUMAN

Name: NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 2

UniProtKB Accession Codes:

O43678 D6RJD6 Q6IAY8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CORUM 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DNASU 1 DisGeNET 1 DrugBank 1 DrugCentral 1 EMBL 7 Ensembl 2 EvolutionaryTrace 1 GO 10 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 5 PIR 1 PIRSF 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 Reactome 3 RefSeq 2 SIGNOR 1 SMART 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: 9425316

Title: Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits.

PubMed ID: 9425316

DOI: 10.1006/bbrc.1997.7707

PubMed ID: 11042152

Title: Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.

PubMed ID: 11042152

DOI: 10.1101/gr.140200

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

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: 18513682

Title: NDUFA2 complex I mutation leads to Leigh disease.

PubMed ID: 18513682

DOI: 10.1016/j.ajhg.2008.05.007

PubMed ID: 19413330

Title: Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.

PubMed ID: 19413330

DOI: 10.1021/ac9004309

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 27626371

Title: Accessory subunits are integral for assembly and function of human mitochondrial complex I.

PubMed ID: 27626371

DOI: 10.1038/nature19754

PubMed ID: 15341729

Title: The oxidized subunit B8 from human complex I adopts a thioredoxin fold.

PubMed ID: 15341729

DOI: 10.1016/j.str.2004.06.021

PubMed ID: 16959974

Title: The consensus coding sequences of human breast and colorectal cancers.

PubMed ID: 16959974

DOI: 10.1126/science.1133427

Sequence Information:

  • Length: 99
  • Mass: 10922
  • Checksum: EF026F193CAF1DF7
  • Sequence:
    • MAAAAASRGV GAKLGLREIR IHLCQRSPGS QGVRDFIEKR YVELKKANPD LPILIRECSD 
VQPKLWARYA FGQETNVPLN NFSADQVTRA LENVLSGKA

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.