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Aliases for DONSON Gene

Aliases for DONSON Gene

  • Downstream Neighbor Of SON 2 3 5
  • C21orf60 3 4
  • B17 3 4
  • Protein Downstream Neighbor Of Son 3
  • MISSLA 3
  • MIMIS 3

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 (Downstream Neighbor Of SON) is a Protein Coding gene. Diseases associated with DONSON include Microcephaly, Short Stature, And Limb Abnormalities and Microcephaly-Micromelia Syndrome.

UniProtKB/Swiss-Prot 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.

Additional gene information for DONSON Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DONSON Gene

Genomics for DONSON Gene

GeneHancer (GH) Regulatory Elements for DONSON Gene

Promoters and enhancers for DONSON Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH21J033587 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 682.7 +0.2 246 2.9 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B E2F8 ZNF207 DONSON TMEM50B PAXBP1 SON GART IFNGR2 GC21P033561 GC21P033558 CRYZL1 GC21P033513
GH21J032769 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 101.5 +817.4 817355 3.9 FEZF1 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF416 ZNF143 ZNF263 PAXBP1 C21orf62-AS1 SON TMEM50B DONSON CFAP298 MIS18A EVA1C URB1 GART
GH21J034543 Enhancer 2.1 VISTA FANTOM5 Ensembl ENCODE dbSUPER 47.6 -956.8 -956792 3.9 PKNOX1 FOXA2 SMAD1 ARNT IRF4 YY1 ZNF766 ZNF207 KLF13 JUNB DONSON FAM243A RCAN1 KCNE1 GC21M034521 GC21M034577
GH21J033478 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 40.4 +109.0 109047 2.8 PKNOX1 SMAD1 ARNT ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 POLR2B TMEM50B PAXBP1 DONSON SON CFAP298 GART FAM243A CRYZL1 EXOSC3P1 IFNGR2
GH21J034200 Promoter/Enhancer 1.8 FANTOM5 Ensembl ENCODE 40.5 -614.1 -614128 5.1 PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 ZNF416 ZNF143 TMEM50B DONSON SON GART SMIM11A FAM243A MRPS6 ENSG00000214955 GC21P034168 ENSG00000272657
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around DONSON on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for DONSON Gene

Genomic Locations for DONSON Gene
chr21:33,559,542-33,588,708
(GRCh38/hg38)
Size:
29,167 bases
Orientation:
Minus strand
chr21:34,931,848-34,961,014
(GRCh37/hg19)
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.

    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):
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for DONSON Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for DONSON Gene

GenScript: Design optimal peptide antigens:

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>

Animal Model Products

Clone Products

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
mitochondrion 1
cytosol 1

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 IDA,IBA 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

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 --
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

Unigene Clusters for DONSON Gene

Downstream neighbor of SON:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
DONSON

Expression for DONSON Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of DONSON Gene:

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

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 34 33
  • 99.41 (n)
OneToOne
dog
(Canis familiaris)
Mammalia LOC478407 33
  • 88.6 (n)
-- 34
  • 87 (a)
OneToMany
-- 34
  • 83 (a)
OneToMany
cow
(Bos Taurus)
Mammalia DONSON 34 33
  • 87.16 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Donson 33
  • 81.34 (n)
mouse
(Mus musculus)
Mammalia Donson 16 34 33
  • 80 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia DONSON 34
  • 72 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DONSON 34
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves DONSON 34 33
  • 68.23 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DONSON 34
  • 69 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia donson 33
  • 65.01 (n)
MGC76196 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.6441 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.503 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005874 33
  • 48.43 (n)
fruit fly
(Drosophila melanogaster)
Insecta hd 34 33
  • 46.99 (n)
OneToOne
CG2669 35
  • 33 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 21 (a)
OneToOne
Species where no ortholog for DONSON was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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

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 from dbSNP and Humsavar for DONSON Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs146664036 pathogenic, likely-pathogenic, MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES, Microcephaly, short stature, and limb abnormalities (MISSLA) [MIM:617604] 33,579,447(-) T/C/G coding_sequence_variant, missense_variant
rs192585552 pathogenic, MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 33,583,699(-) T/C intron_variant
rs374688527 Microcephaly, short stature, and limb abnormalities (MISSLA) [MIM:617604] 33,579,403(-) C/T coding_sequence_variant, missense_variant
rs768071555 pathogenic, MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 33,588,560(-) T/G coding_sequence_variant, missense_variant
rs777061964 pathogenic, MICROCEPHALY, SHORT STATURE, AND LIMB ABNORMALITIES 33,584,692(-) C/T coding_sequence_variant, stop_gained

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

Variant ID Type Subtype PubMed ID
esv2723357 CNV deletion 23290073
esv2723356 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

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

Disorders for DONSON Gene

MalaCards: The human disease database

(3) MalaCards diseases for DONSON Gene - From: HGMD, OMIM, ClinVar, Swiss-Prot, DISEASES, and GeneCards

- 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 mutations 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 mutations 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 58
  2. 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 58
  3. 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 58
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  5. An unappreciated role for RNA surveillance. (PMID: 14759258) Hillman RT … Brenner SE (Genome biology 2004) 3 4 58

Products for DONSON Gene

Sources for DONSON Gene

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