Details for: DONSON

Gene ID: 29980

Symbol: DONSON

Ensembl ID: ENSG00000159147

Description: DNA replication fork stabilization factor DONSON

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: mucosal type mast cell (CL0000485)
    Fold Change: 35.5071
    Cell Significance Index: -14.4300
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 32.7625
    Cell Significance Index: -8.3100
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 31.7466
    Cell Significance Index: -16.3300
  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 15.6868
    Cell Significance Index: -2.4400
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 15.1454
    Cell Significance Index: -14.4600
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 10.8844
    Cell Significance Index: -13.4200
  • Cell Name: basophilic erythroblast (CL0000549)
    Fold Change: 7.0926
    Cell Significance Index: 3.2300
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 6.0194
    Cell Significance Index: -16.1300
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 3.6657
    Cell Significance Index: -14.4700
  • Cell Name: theca cell (CL0000503)
    Fold Change: 2.6519
    Cell Significance Index: 15.5800
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 2.0653
    Cell Significance Index: -4.5200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7926
    Cell Significance Index: 78.4100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.5235
    Cell Significance Index: 99.6300
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.5082
    Cell Significance Index: 28.5200
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.4771
    Cell Significance Index: 6.5100
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4379
    Cell Significance Index: 86.9000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.4351
    Cell Significance Index: 50.7100
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 0.4296
    Cell Significance Index: 5.4100
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.4163
    Cell Significance Index: 83.5000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.3946
    Cell Significance Index: 64.1800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.3477
    Cell Significance Index: 240.4800
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.3106
    Cell Significance Index: 33.7900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3093
    Cell Significance Index: 110.9500
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.2323
    Cell Significance Index: 13.9500
  • Cell Name: enteric neuron (CL0007011)
    Fold Change: 0.2308
    Cell Significance Index: 1.6700
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2133
    Cell Significance Index: 5.9600
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2122
    Cell Significance Index: 6.1200
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.2059
    Cell Significance Index: 4.3100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.1999
    Cell Significance Index: 180.4600
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.1837
    Cell Significance Index: 4.8300
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.1786
    Cell Significance Index: 10.9800
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.1707
    Cell Significance Index: 20.1300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1428
    Cell Significance Index: 19.6100
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.1419
    Cell Significance Index: 2.7700
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1260
    Cell Significance Index: 2.7300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.0852
    Cell Significance Index: 2.1300
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0850
    Cell Significance Index: 46.4100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.0835
    Cell Significance Index: 2.2300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0797
    Cell Significance Index: 4.1400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0708
    Cell Significance Index: 3.1300
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0675
    Cell Significance Index: 1.1300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0675
    Cell Significance Index: 5.1800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0589
    Cell Significance Index: 2.2300
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0556
    Cell Significance Index: 2.5200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0508
    Cell Significance Index: 22.4600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0490
    Cell Significance Index: 1.5700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0413
    Cell Significance Index: 1.4500
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0340
    Cell Significance Index: 46.2400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0328
    Cell Significance Index: 50.5600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0311
    Cell Significance Index: 3.8300
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0285
    Cell Significance Index: 53.5800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0280
    Cell Significance Index: 3.5900
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0251
    Cell Significance Index: 0.5500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.0211
    Cell Significance Index: 0.5700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0206
    Cell Significance Index: 38.0600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0130
    Cell Significance Index: 2.3400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0120
    Cell Significance Index: 7.6300
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.0034
    Cell Significance Index: 0.0700
  • Cell Name: decidual cell (CL2000002)
    Fold Change: -0.0093
    Cell Significance Index: -0.1500
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0110
    Cell Significance Index: -4.9900
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.0117
    Cell Significance Index: -0.2800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.0132
    Cell Significance Index: -0.9100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0165
    Cell Significance Index: -12.2400
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0169
    Cell Significance Index: -2.4600
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0177
    Cell Significance Index: -13.3700
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0199
    Cell Significance Index: -14.5800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0251
    Cell Significance Index: -14.1500
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0253
    Cell Significance Index: -1.7000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0271
    Cell Significance Index: -16.9000
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.0345
    Cell Significance Index: -1.6100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0394
    Cell Significance Index: -0.8400
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0453
    Cell Significance Index: -2.3800
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.0464
    Cell Significance Index: -7.9300
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0468
    Cell Significance Index: -13.4800
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0581
    Cell Significance Index: -3.6600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0632
    Cell Significance Index: -8.1700
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0642
    Cell Significance Index: -6.5600
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0723
    Cell Significance Index: -5.1200
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -0.0782
    Cell Significance Index: -0.8500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0784
    Cell Significance Index: -16.5200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0833
    Cell Significance Index: -9.5400
  • Cell Name: germ cell (CL0000586)
    Fold Change: -0.0967
    Cell Significance Index: -0.7300
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.1036
    Cell Significance Index: -1.2900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1096
    Cell Significance Index: -3.8100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1102
    Cell Significance Index: -7.1100
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1145
    Cell Significance Index: -11.9200
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1147
    Cell Significance Index: -8.5500
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1308
    Cell Significance Index: -3.5100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1333
    Cell Significance Index: -8.1700
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1348
    Cell Significance Index: -2.3100
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1460
    Cell Significance Index: -6.8600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1661
    Cell Significance Index: -8.6500
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.1736
    Cell Significance Index: -2.0700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.1773
    Cell Significance Index: -4.5300
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1924
    Cell Significance Index: -15.2400
  • Cell Name: monocyte-derived dendritic cell (CL0011031)
    Fold Change: -0.2171
    Cell Significance Index: -3.7300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2249
    Cell Significance Index: -3.3200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2529
    Cell Significance Index: -8.0600
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2553
    Cell Significance Index: -6.8300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.2603
    Cell Significance Index: -5.5300

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:** DONSON is a multifunctional protein that interacts with various partners to regulate DNA replication fork stability. It is significantly expressed in cells involved in DNA replication, such as enteric neurons, follicular B cells, and oogonial cells. DONSON's expression is also observed in neural crest cells, B-2 B cells, and gamma-delta intraepithelial T cells, highlighting its potential role in immune responses and development. Notably, DONSON's expression is restricted in cells that undergo meiosis, suggesting its involvement in regulating recombination events. **Pathways and Functions:** DONSON's primary function is to stabilize the replication fork, ensuring the accurate progression of DNA replication. It interacts with other proteins, such as PCNA (proliferating cell nuclear antigen) and MCM2-4 (minichromosome maintenance complex), to regulate the replication process. DONSON's activity is also linked to the DNA damage checkpoint signaling pathway, which allows cells to respond to DNA damage and prevent genomic instability. In addition to its role in DNA replication, DONSON has been implicated in the regulation of recombination events during meiosis. Its expression is restricted in cells undergoing meiosis, suggesting its involvement in the control of recombination events. Furthermore, DONSON's interaction with other proteins, such as BRCA1 and BRCA2, has been linked to the regulation of genome stability and the prevention of cancer. **Clinical Significance:** DONSON's dysregulation has been implicated in various diseases, including cancer and genomic instability. Mutations in DONSON have been associated with an increased risk of cancer, highlighting its potential role as a tumor suppressor gene. Additionally, DONSON's involvement in the regulation of recombination events during meiosis has been linked to infertility and genetic disorders. In the context of immunology, DONSON's expression in immune cells has been linked to the development and function of T cells and B cells. Its dysregulation has been implicated in autoimmune diseases, such as multiple sclerosis and rheumatoid arthritis. In conclusion, DONSON is a critical protein that plays a multifaceted role in maintaining genome stability during DNA replication and repair. Its dysregulation has significant clinical implications, and further research is needed to fully elucidate its function and regulation in various diseases. **Recommendations:** 1. Further studies are needed to elucidate the mechanisms by which DONSON regulates DNA replication and recombination events during meiosis. 2. The role of DONSON in the development and function of immune cells should be further investigated, particularly in the context of autoimmune diseases. 3. DONSON's potential as a therapeutic target in cancer and genomic instability should be explored. By gaining a deeper understanding of DONSON's function and regulation, we can unlock new avenues for the treatment and prevention of diseases associated with genomic instability and immune dysfunction.

Genular Protein ID: 2206245720

Symbol: DONS_HUMAN

Name: Protein downstream neighbor of Son

UniProtKB Accession Codes:

Q9NYP3 Q8NC53 Q9NSR9 Q9NVZ5 Q9NYP1 Q9NYP2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 1 ExpressionAtlas 1 GO 9 GeneCards 1 GeneTree 1 GenomeRNAi 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 1 KEGG 1 MANE-Select 1 MIM 5 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PIR 1 PRINTS 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 RefSeq 1 SMR 1 STRING 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 14702039

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

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 17974005

Title: The full-ORF clone resource of the German cDNA consortium.

PubMed ID: 17974005

DOI: 10.1186/1471-2164-8-399

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: 10773462

Title: Criteria for gene identification and features of genome organization: analysis of 6.5 Mb of DNA sequence from human chromosome 21.

PubMed ID: 10773462

DOI: 10.1016/s0378-1119(00)00089-5

PubMed ID: 14759258

Title: An unappreciated role for RNA surveillance.

PubMed ID: 14759258

DOI: 10.1186/gb-2004-5-2-r8

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 28630177

Title: Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.

PubMed ID: 28630177

DOI: 10.1101/gr.219899.116

PubMed ID: 28191891

Title: Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism.

PubMed ID: 28191891

DOI: 10.1038/ng.3790

Sequence Information:

  • Length: 566
  • Mass: 62747
  • Checksum: 5421C43C1E2A03F4
  • Sequence:
    • MALSVPGYSP GFRKPPEVVR LRRKRARSRG AAASPPRELT EPAARRAALV AGLPLRPFPA 
AGGRGGGSGG GPAAARRNPF ARLDNRPRVA AEPPDGPARE QPEAPVPFLD SNQENDLLWE 
EKFPERTTVT ELPQTSHVSF SEPDIPSSKS TELPVDWSIK TRLLFTSSQP FTWADHLKAQ 
EEAQGLVQHC RATEVTLPKS IQDPKLSSEL RCTFQQSLIY WLHPALSWLP LFPRIGADRK 
MAGKTSPWSN DATLQHVLMS DWSVSFTSLY NLLKTKLCPY FYVCTYQFTV LFRAAGLAGS 
DLITALISPT TRGLREAMRN EGIEFSLPLI KESGHKKETA SGTSLGYGEE QAISDEDEEE 
SFSWLEEMGV QDKIKKPDIL SIKLRKEKHE VQMDHRPESV VLVKGINTFT LLNFLINSKS 
LVATSGPQAG LPPTLLSPVA FRGATMQMLK ARSVNVKTQA LSGYRDQFSL EITGPIMPHS 
LHSLTMLLKS SQSGSFSAVL YPHEPTAVFN ICLQMDKVLD MEVVHKELTN CGLHPNTLEQ 
LSQIPLLGKS SLRNVVLRDY IYNWRS

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.