This gene lies downstream of the SON gene and spans 10 kb on chromosome 21. The function of this gene is unknown. [provided by RefSeq, Jul 2008] See more...

Aliases for DONSON Gene

Aliases for DONSON Gene

  • DNA Replication Fork Stabilization Factor DONSON 2 3 5
  • B17 2 3 4
  • Protein Downstream Neighbor Of Son 3 4
  • Downstream Neighbor Of SON 2 3
  • C21orf60 3 4
  • DKFZP434M035 2
  • MISSLA 3
  • DONSON 5
  • MIMIS 3
  • C2TA 2

External Ids for DONSON Gene

Previous HGNC Symbols for DONSON Gene

  • C21orf60

Previous GeneCards Identifiers for DONSON Gene

  • GC21U990030
  • GC21M031608
  • GC21M033870
  • GC21M033873
  • GC21M034948
  • GC21M020428

Summaries for DONSON Gene

Entrez Gene Summary for DONSON Gene

  • This gene lies downstream of the SON gene and spans 10 kb on chromosome 21. The function of this gene is unknown. [provided by RefSeq, Jul 2008]

GeneCards Summary for DONSON Gene

DONSON (DNA Replication Fork Stabilization Factor DONSON) is a Protein Coding gene. Diseases associated with DONSON include Microcephaly, Short Stature, And Limb Abnormalities and Microcephaly-Micromelia Syndrome.

UniProtKB/Swiss-Prot Summary for DONSON Gene

  • Replisome component that maintains genome stability by protecting stalled or damaged replication forks. After the induction of replication stress, required for the stabilization of stalled replication forks, the efficient activation of the intra-S-phase and G/2M cell-cycle checkpoints and the maintenance of genome stability.

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DONSON Gene

Genomics for DONSON Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DONSON Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DONSON on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DONSON

Top Transcription factor binding sites by QIAGEN in the DONSON gene promoter:
  • C/EBPalpha
  • IRF-7A
  • NF-E2
  • NF-E2 p45
  • Nkx2-5
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a

Genomic Locations for DONSON Gene

Latest Assembly
chr21:33,559,542-33,588,706
(GRCh38/hg38)
Size:
29,165 bases
Orientation:
Minus strand

Previous Assembly
chr21:34,949,857-34,960,990
(GRCh37/hg19 by Entrez Gene)
Size:
11,134 bases
Orientation:
Minus strand

chr21:34,931,848-34,961,014
(GRCh37/hg19 by Ensembl)
Size:
29,167 bases
Orientation:
Minus strand

Genomic View for DONSON Gene

Genes around DONSON on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DONSON Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DONSON Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DONSON Gene

Proteins for DONSON Gene

  • Protein details for DONSON Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NYP3-DONS_HUMAN
    Recommended name:
    Protein downstream neighbor of Son
    Protein Accession:
    Q9NYP3
    Secondary Accessions:
    • Q8NC53
    • Q9NSR9
    • Q9NVZ5
    • Q9NYP1
    • Q9NYP2

    Protein attributes for DONSON Gene

    Size:
    566 amino acids
    Molecular mass:
    62747 Da
    Quaternary structure:
    • Component of the replisome complex composed of at least DONSON, MCM2, MCM7, PCNA and TICRR; interaction at least with PCNA occurs during DNA replication.
    Miscellaneous:
    • [Isoform 2]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.
    • [Isoform 3]: May be produced at very low levels due to a premature stop codon in the mRNA, leading to nonsense-mediated mRNA decay.

    Alternative splice isoforms for DONSON Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DONSON Gene

Post-translational modifications for DONSON Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for DONSON Gene

Domains & Families for DONSON Gene

Gene Families for DONSON Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DONSON Gene

InterPro:

Suggested Antigen Peptide Sequences for DONSON Gene

GenScript: Design optimal peptide antigens:
  • B17 (DONS_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NYP3

UniProtKB/Swiss-Prot:

DONS_HUMAN :
  • Belongs to the DONSON family.
Family:
  • Belongs to the DONSON family.
genes like me logo Genes that share domains with DONSON: view

Function for DONSON Gene

Molecular function for DONSON Gene

UniProtKB/Swiss-Prot Function:
Replisome component that maintains genome stability by protecting stalled or damaged replication forks. After the induction of replication stress, required for the stabilization of stalled replication forks, the efficient activation of the intra-S-phase and G/2M cell-cycle checkpoints and the maintenance of genome stability.
UniProtKB/Swiss-Prot Induction:
Expression is cell-cycle dependent with highest levels during S phase.

Phenotypes From GWAS Catalog for DONSON Gene

Gene Ontology (GO) - Molecular Function for DONSON Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 28191891
genes like me logo Genes that share ontologies with DONSON: view
genes like me logo Genes that share phenotypes with DONSON: view

Human Phenotype Ontology for DONSON Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DONSON Gene

MGI Knock Outs for DONSON:
  • Donson Donson<tm1a(EUCOMM)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DONSON

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DONSON Gene

Localization for DONSON Gene

Subcellular locations from UniProtKB/Swiss-Prot for DONSON Gene

Nucleus. Note=Localizes at DNA replication sites. {ECO:0000269 PubMed:28191891}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DONSON gene
Compartment Confidence
nucleus 5
cytoskeleton 1
cytosol 1
golgi apparatus 1
mitochondrion 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
  • Cytosol (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DONSON Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,IDA 28191891
GO:0005657 replication fork IDA 28191891
GO:0030894 replisome IDA 28191891
genes like me logo Genes that share ontologies with DONSON: view

Pathways & Interactions for DONSON Gene

PathCards logo

SuperPathways for DONSON Gene

No Data Available

Gene Ontology (GO) - Biological Process for DONSON Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000077 DNA damage checkpoint IMP 28191891
GO:0006260 DNA replication IMP 28191891
GO:0007095 mitotic G2 DNA damage checkpoint IMP 28191891
GO:0007275 multicellular organism development IEA --
GO:0033260 nuclear DNA replication IBA 21873635
genes like me logo Genes that share ontologies with DONSON: view

No data available for Pathways by source and SIGNOR curated interactions for DONSON Gene

Drugs & Compounds for DONSON Gene

No Compound Related Data Available

Transcripts for DONSON Gene

mRNA/cDNA for DONSON Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
13 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DONSON

Alternative Splicing Database (ASD) splice patterns (SP) for DONSON Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b · 11c ^ 12 ^ 13a · 13b · 13c · 13d · 13e ^ 14a · 14b · 14c ·
SP1: - -
SP2: - - - - - - - - - -
SP3: - -
SP4: - - -
SP5:
SP6:
SP7: -
SP8: - - - - -
SP9:
SP10:
SP11: - - - - - - -
SP12: - - - - - - - -
SP13:
SP14:
SP15: - - -
SP16: - -
SP17:
SP18:

ExUns: 14d ^ 15a · 15b · 15c · 15d · 15e ^ 16 ^ 17 ^ 18a · 18b · 18c · 18d ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25a · 25b · 25c
SP1:
SP2:
SP3:
SP4:
SP5: -
SP6: - -
SP7:
SP8:
SP9: -
SP10: - - - - - -
SP11:
SP12: -
SP13: - - - -
SP14: - -
SP15:
SP16:
SP17:
SP18:

Relevant External Links for DONSON Gene

GeneLoc Exon Structure for
DONSON

Expression for DONSON Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DONSON Gene

Protein differential expression in normal tissues from HIPED for DONSON Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DONSON Gene



Protein tissue co-expression partners for DONSON Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DONSON

SOURCE GeneReport for Unigene cluster for DONSON Gene:

Hs.436341

mRNA Expression by UniProt/SwissProt for DONSON Gene:

Q9NYP3-DONS_HUMAN
Tissue specificity: Expressed in the brain, with higher levels in prenatal compared to adult brain.
genes like me logo Genes that share expression patterns with DONSON: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for DONSON Gene

Orthologs for DONSON Gene

This gene was present in the common ancestor of animals.

Orthologs for DONSON Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DONSON 29 30
  • 99.41 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia LOC478407 29
  • 88.6 (n)
-- 30
  • 87 (a)
OneToMany
-- 30
  • 83 (a)
OneToMany
Cow
(Bos Taurus)
Mammalia DONSON 29 30
  • 87.16 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Donson 29
  • 81.34 (n)
Mouse
(Mus musculus)
Mammalia Donson 29 16 30
  • 80 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DONSON 30
  • 72 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DONSON 30
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves DONSON 29 30
  • 68.23 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DONSON 30
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia donson 29
  • 65.01 (n)
MGC76196 29
African clawed frog
(Xenopus laevis)
Amphibia Xl.6441 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.503 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005874 29
  • 48.43 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta hd 29 30
  • 46.99 (n)
OneToOne
CG2669 31
  • 33 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 21 (a)
OneToOne
Species where no ortholog for DONSON was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for DONSON Gene

ENSEMBL:
Gene Tree for DONSON (if available)
TreeFam:
Gene Tree for DONSON (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DONSON: view image
Alliance of Genome Resources:
Additional Orthologs for DONSON

Paralogs for DONSON Gene

Pseudogenes.org Pseudogenes for DONSON Gene

genes like me logo Genes that share paralogs with DONSON: view

No data available for Paralogs for DONSON Gene

Variants for DONSON Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DONSON Gene

SNP ID Clinical significance and condition Chr 21 pos Variation AA Info Type
1012222 Pathogenic: DONSON-related Meier-Gorlin syndrome 33,584,705(-) G/A
NM_017613.4(DONSON):c.670C>T (p.Pro224Ser)
MISSENSE
1012223 Pathogenic: DONSON-related Meier-Gorlin syndrome 33,583,643(-) T/C
NM_017613.4(DONSON):c.809A>G (p.Tyr270Cys)
MISSENSE
1029476 Uncertain Significance: Microcephaly, short stature, and limb abnormalities 33,584,733(-) G/C
NM_017613.4(DONSON):c.642C>G (p.Phe214Leu)
MISSENSE
1033429 Uncertain Significance: Microcephaly, short stature, and limb abnormalities 33,583,533(-) T/C
NM_017613.4(DONSON):c.919A>G (p.Ile307Val)
MISSENSE
977879 Likely Benign: Microcephaly, short stature, and limb abnormalities 33,581,956(-) G/C
NM_017613.4(DONSON):c.1146C>G (p.Ile382Met)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DONSON Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DONSON Gene

Variant ID Type Subtype PubMed ID
esv2723356 CNV deletion 23290073
esv2723357 CNV deletion 23290073

Variation tolerance for DONSON Gene

Residual Variation Intolerance Score: 76% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.45; 43.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DONSON Gene

Human Gene Mutation Database (HGMD)
DONSON
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DONSON
Leiden Open Variation Database (LOVD)
DONSON

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DONSON Gene

Disorders for DONSON Gene

MalaCards: The human disease database

(7) MalaCards diseases for DONSON Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

DONS_HUMAN
  • Microcephaly-micromelia syndrome (MIMIS) [MIM:251230]: A severe autosomal recessive disorder characterized by intrauterine growth restriction, marked microcephaly, craniofacial anomalies, skeletal dysplasia, and variable malformations of the limbs, particularly the upper limbs. It usually results in death in utero or in the perinatal period. {ECO:0000269 PubMed:28630177}. Note=The disease is caused by variants affecting the gene represented in this entry. This extremely rare syndrome is caused by an intronic mutation that leads to the retention of intron 6, probably resulting in non-sense mediated mRNA decay. This isoform has also been detected in healthy tissues, but at much lower levels than in MIMIS samples. {ECO:0000269 PubMed:28630177}.
  • Microcephaly, short stature, and limb abnormalities (MISSLA) [MIM:617604]: An autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Mild intellectual disability and developmental delay is observed in some patients. {ECO:0000269 PubMed:28191891}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for DONSON

genes like me logo Genes that share disorders with DONSON: view

No data available for Genatlas for DONSON Gene

Publications for DONSON Gene

  1. Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. (PMID: 28191891) Reynolds JJ … Stewart GS (Nature genetics 2017) 2 3 4 72
  2. Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. (PMID: 28630177) Evrony GD … Walsh CA (Genome research 2017) 3 4 72
  3. Criteria for gene identification and features of genome organization: analysis of 6.5 Mb of DNA sequence from human chromosome 21. (PMID: 10773462) Slavov D … Gardiner K (Gene 2000) 2 3 4
  4. Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings. (PMID: 31320746) Danyel M … Mensah MA (European journal of human genetics : EJHG 2019) 3 72
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for DONSON Gene

Sources for DONSON Gene