Details for: CHCHD2

Gene ID: 51142

Symbol: CHCHD2

Ensembl ID: ENSG00000106153

Description: coiled-coil-helix-coiled-coil-helix domain containing 2

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: 825.6441
    Cell Significance Index: -128.4300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 505.5129
    Cell Significance Index: -128.2200
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 425.5638
    Cell Significance Index: -175.3100
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 382.5779
    Cell Significance Index: -155.4300
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 358.0426
    Cell Significance Index: -169.0400
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 330.5499
    Cell Significance Index: -170.0300
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 253.0766
    Cell Significance Index: -169.8200
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 126.8233
    Cell Significance Index: -156.3700
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 43.7222
    Cell Significance Index: -172.5300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 37.9364
    Cell Significance Index: -116.5200
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 29.6768
    Cell Significance Index: -79.5000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 22.6584
    Cell Significance Index: -49.5900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 7.0270
    Cell Significance Index: 330.2600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 6.3670
    Cell Significance Index: 296.8600
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 5.9214
    Cell Significance Index: 441.3200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 5.6259
    Cell Significance Index: 295.3800
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 5.3037
    Cell Significance Index: 685.2000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 5.2500
    Cell Significance Index: 109.8900
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 5.1354
    Cell Significance Index: 147.2100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 4.9462
    Cell Significance Index: 130.0600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 4.7636
    Cell Significance Index: 2601.5400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 4.7026
    Cell Significance Index: 128.0000
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 4.6867
    Cell Significance Index: 643.6100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 4.5675
    Cell Significance Index: 538.6500
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 4.4159
    Cell Significance Index: 542.9800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 4.2965
    Cell Significance Index: 774.5300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 4.2303
    Cell Significance Index: 147.0000
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: 4.2085
    Cell Significance Index: 25.9000
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 4.0565
    Cell Significance Index: 44.1000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 3.9144
    Cell Significance Index: 252.5400
  • Cell Name: peg cell (CL4033014)
    Fold Change: 3.8001
    Cell Significance Index: 87.8000
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 3.5838
    Cell Significance Index: 253.4600
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 3.4708
    Cell Significance Index: 39.4300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 3.4552
    Cell Significance Index: 1527.6300
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 3.3900
    Cell Significance Index: 59.9100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 3.0051
    Cell Significance Index: 385.2400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 2.8700
    Cell Significance Index: 84.2900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 2.8680
    Cell Significance Index: 283.7100
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 2.8674
    Cell Significance Index: 26.4100
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 2.6863
    Cell Significance Index: 49.6500
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 2.1750
    Cell Significance Index: 27.8600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 1.3771
    Cell Significance Index: 71.5400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.3680
    Cell Significance Index: 393.6100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 1.1910
    Cell Significance Index: 236.3500
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 1.1464
    Cell Significance Index: 30.6100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 1.1174
    Cell Significance Index: 190.8100
  • Cell Name: oral mucosa squamous cell (CL1001576)
    Fold Change: 0.8716
    Cell Significance Index: 7.4900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.6194
    Cell Significance Index: 468.8000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.5807
    Cell Significance Index: 36.6000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.4824
    Cell Significance Index: 12.9300
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.4720
    Cell Significance Index: 89.8300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.4596
    Cell Significance Index: 337.0100
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.4246
    Cell Significance Index: 3.3900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4126
    Cell Significance Index: 82.7700
  • Cell Name: cone retinal bipolar cell (CL0000752)
    Fold Change: 0.3918
    Cell Significance Index: 3.0200
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.1485
    Cell Significance Index: 53.2700
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0054
    Cell Significance Index: 10.1400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0504
    Cell Significance Index: -37.3500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0567
    Cell Significance Index: -5.7900
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0784
    Cell Significance Index: -144.6500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0942
    Cell Significance Index: -145.0100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.1331
    Cell Significance Index: -83.1200
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.1354
    Cell Significance Index: -184.1500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1649
    Cell Significance Index: -13.0600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.1754
    Cell Significance Index: -98.9000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.1809
    Cell Significance Index: -114.9000
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2030
    Cell Significance Index: -23.1700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.2698
    Cell Significance Index: -122.4700
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.2865
    Cell Significance Index: -60.3400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3531
    Cell Significance Index: -5.9100
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.6494
    Cell Significance Index: -16.5900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: -0.6570
    Cell Significance Index: -29.7800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.7209
    Cell Significance Index: -44.3100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: -0.7224
    Cell Significance Index: -117.4900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.7562
    Cell Significance Index: -86.6400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.9028
    Cell Significance Index: -131.2300
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.9543
    Cell Significance Index: -111.2100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: -1.1103
    Cell Significance Index: -31.0300
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -1.3432
    Cell Significance Index: -29.1000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -1.4200
    Cell Significance Index: -45.4800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -1.5058
    Cell Significance Index: -84.5000
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -1.6175
    Cell Significance Index: -168.4200
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -1.6444
    Cell Significance Index: -24.6400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -1.7085
    Cell Significance Index: -23.3100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -1.9093
    Cell Significance Index: -146.5200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -2.0339
    Cell Significance Index: -136.7600
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -2.7516
    Cell Significance Index: -168.7000
  • Cell Name: endothelial cell of placenta (CL0009092)
    Fold Change: -2.7785
    Cell Significance Index: -16.7900
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: -2.8604
    Cell Significance Index: -49.3100
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -3.0800
    Cell Significance Index: -126.2000
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -3.0858
    Cell Significance Index: -90.8900
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: -3.1286
    Cell Significance Index: -26.2800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -3.3639
    Cell Significance Index: -40.1000
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -3.4119
    Cell Significance Index: -91.2700
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -3.5822
    Cell Significance Index: -92.0800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -3.6809
    Cell Significance Index: -63.0800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -3.7708
    Cell Significance Index: -166.7900
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: -3.9288
    Cell Significance Index: -18.1400
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -3.9894
    Cell Significance Index: -27.0300
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: -3.9900
    Cell Significance Index: -65.7500

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. **Coiled-Coil Domain:** The CHCHD2 protein contains a characteristic coiled-coil domain, which is essential for its oligomerization and interaction with other proteins. 2. **Mitochondrial Localization:** CHCHD2 is primarily localized to the mitochondria, where it regulates mitochondrial function, protein degradation, and intermembrane space organization. 3. **DNA-Binding Ability:** The CHCHD2 protein exhibits sequence-specific DNA-binding properties, allowing it to regulate gene expression and transcription. 4. **Oxidative Stress Response:** CHCHD2 plays a critical role in responding to oxidative stress, a condition characterized by an imbalance between the production of reactive oxygen species (ROS) and the cell's ability to detoxify them. **Pathways and Functions:** 1. **Mitochondrial Protein Degradation:** CHCHD2 regulates the degradation of mitochondrial proteins, which is essential for maintaining mitochondrial homeostasis and function. 2. **Mitochondrial Protein Import:** CHCHD2 is involved in the import of mitochondrial proteins, ensuring the proper functioning of the mitochondrial proteome. 3. **Regulation of Cellular Response to Hypoxia:** CHCHD2 helps regulate the cellular response to hypoxia, a condition characterized by inadequate oxygen supply to tissues. 4. **Metabolism of Precursor Metabolites and Energy:** CHCHD2 plays a role in regulating the metabolism of precursor metabolites and energy production, which is essential for maintaining cellular homeostasis. **Clinical Significance:** 1. **Mitochondrial Diseases:** Mutations in the CHCHD2 gene have been associated with mitochondrial diseases, such as neurodegenerative disorders and metabolic disorders. 2. **Cancer:** CHCHD2 expression is altered in various types of cancer, including leukemia and lymphoma, suggesting its potential role in tumorigenesis. 3. **Immunological Disorders:** CHCHD2 is expressed in immune cells, and its dysregulation may contribute to immunological disorders, such as autoimmune diseases and immunodeficiency. 4. **Neurological Disorders:** CHCHD2 has been implicated in the pathogenesis of neurological disorders, including Alzheimer's disease and Parkinson's disease. In conclusion, the CHCHD2 gene plays a crucial role in regulating mitochondrial function and cellular stress response. Its dysregulation has been implicated in various diseases, including mitochondrial diseases, cancer, immunological disorders, and neurological disorders. Further research is necessary to fully elucidate the mechanisms by which CHCHD2 regulates cellular processes and its potential therapeutic applications.

Genular Protein ID: 3890953872

Symbol: CHCH2_HUMAN

Name: Coiled-coil-helix-coiled-coil-helix domain-containing protein 2

UniProtKB Accession Codes:

Q9Y6H1 Q498C3 Q6NZ50

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 9 Ensembl 1 GO 11 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 OrthoDB 1 PANTHER 2 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 SMR 1 STRING 1 SignaLink 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniProtKB 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 12853948

Title: The DNA sequence of human chromosome 7.

PubMed ID: 12853948

DOI: 10.1038/nature01782

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: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 23303788

Title: Oxygen-dependent expression of cytochrome c oxidase subunit 4-2 gene expression is mediated by transcription factors RBPJ, CXXC5 and CHCHD2.

PubMed ID: 23303788

DOI: 10.1093/nar/gks1454

PubMed ID: 25662902

Title: CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study.

PubMed ID: 25662902

DOI: 10.1016/s1474-4422(14)70266-2

PubMed ID: 26067113

Title: CHCHD2 and Parkinson's disease.

PubMed ID: 26067113

DOI: 10.1016/s1474-4422(15)00096-4

PubMed ID: 25944712

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

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 26561290

Title: Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders.

PubMed ID: 26561290

DOI: 10.1212/wnl.0000000000002170

Sequence Information:

  • Length: 151
  • Mass: 15513
  • Checksum: 5403662D8DB4FB86
  • Sequence:
    • MPRGSRSRTS RMAPPASRAP QMRAAPRPAP VAQPPAAAPP SAVGSSAAAP RQPGLMAQMA 
TTAAGVAVGS AVGHTLGHAI TGGFSGGSNA EPARPDITYQ EPQGTQPAQQ QQPCLYEIKQ 
FLECAQNQGD IKLCEGFNEV LKQCRLANGL A

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.