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DONSON DNA replication fork stabilization factor DONSON [ Homo sapiens (human) ]

Gene ID: 29980, updated on 5-Mar-2024

Summary

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Official Symbol
DONSONprovided by HGNC
Official Full Name
DNA replication fork stabilization factor DONSONprovided by HGNC
Primary source
HGNC:HGNC:2993
See related
Ensembl:ENSG00000159147 MIM:611428; AllianceGenome:HGNC:2993
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
B17; MIMIS; MISSLA; C21orf60
Summary
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]
Expression
Broad expression in testis (RPKM 22.3), urinary bladder (RPKM 14.4) and 23 other tissues See more
Orthologs
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Genomic context

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Location:
21q22.11
Exon count:
10
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 21 NC_000021.9 (33577551..33588684, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 21 NC_060945.1 (31959392..31970473, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (34949857..34960990, complement)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:34903402-34904601 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13260 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:34914753-34915484 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13261 Neighboring gene phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase Neighboring gene basic transcription factor 3 pseudogene 6 Neighboring gene microRNA 6501 Neighboring gene H3K27ac hESC enhancer GRCh37_chr21:34960679-34961178 Neighboring gene SON DNA and RNA binding protein Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18382 Neighboring gene crystallin zeta like 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18383 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13263 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13264 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13265 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35029077-35029576 Neighboring gene intersectin 1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:35063898-35064424 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr21:35064425-35064951 Neighboring gene H3K27me3-DHS negatively-acting regulatory element H4 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35069053-35069554 Neighboring gene ReSE screen-validated silencer GRCh37_chr21:35114498-35114600 Neighboring gene NANOG hESC enhancer GRCh37_chr21:35173966-35174467 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr21:35229825-35230518 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr21:35257366-35258565 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35267187-35267773 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr21:35267774-35268359

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome. Knapp KM, et al. J Med Genet, 2020 Mar. PMID 31784481, Free PMC Article
  2. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. Karaca E, et al. Am J Med Genet A, 2019 Oct. PMID 31407851, Free PMC Article
  3. Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings. Danyel M, et al. Eur J Hum Genet, 2019 Dec. PMID 31320746, Free PMC Article
  4. DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain. Zhang J, et al. Nat Commun, 2020 Aug 7. PMID 32769987, Free PMC Article
  5. Circ-DONSON promotes malignant progression of glioma through modulating FOXO3. Zou Z, et al. Eur Rev Med Pharmacol Sci, 2020 Jan. PMID 32016978

See all (26) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. DONSON facilitates Cdc45 and GINS chromatin association and is essential for DNA replication initiation.
    Title: DONSON facilitates Cdc45 and GINS chromatin association and is essential for DNA replication initiation.
  2. DONSON is required for CMG helicase assembly in the mammalian cell cycle.
    Title: DONSON is required for CMG helicase assembly in the mammalian cell cycle.
  3. Novel role of DONSON in CMG helicase assembly during vertebrate DNA replication initiation.
    Title: Novel role of DONSON in CMG helicase assembly during vertebrate DNA replication initiation.
  4. Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome.
    Title: Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome.
  5. Circ-DONSON promotes malignant progression of glioma through modulating FOXO3.
    Title: Circ-DONSON promotes malignant progression of glioma through modulating FOXO3.
  6. DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain.
    Title: DONSON and FANCM associate with different replisomes distinguished by replication timing and chromatin domain.
  7. four unrelated families with five affected individuals having biallelic or de novo variants in DONSON presenting with a core phenotype of severe short stature (z score < -3 SD), additional skeletal abnormalities, and microcephaly, were identified.
    Title: Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities.
  8. we present the clinical data of siblings with microcephaly, short stature, and limb abnormalities syndrome (MISSLA) featuring a novel DONSON variant and summarize the current literature on MISSLA.
    Title: Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings.
  9. the antitumor miR-101-5p/DONSON axis and its modulated replisome genes might be a novel diagnostic and therapeutic target for clear cell renal cell carcinoma
    Title: Replisome genes regulation by antitumor miR-101-5p in clear cell renal cell carcinoma.
  10. Aberrant splicing and a noncoding mutation in DONSON gene is the cause of microcephaly-micromelia syndrome
    Title: Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Microcephaly, short stature, and limb abnormalities
MedGen: C4539873 OMIM: 617604 GeneReviews: Not available
Compare labs
Microcephaly-micromelia syndrome
MedGen: C1855079 OMIM: 251230 GeneReviews: Not available
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Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • DKFZp434M035

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA damage checkpoint signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in DNA replication IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitotic DNA replication checkpoint signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in mitotic G2 DNA damage checkpoint signaling IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in nuclear DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in replication fork processing IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in replication fork IDA
Inferred from Direct Assay
more info
 PubMed 
part_of replisome IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
protein downstream neighbor of Son
Names
downstream neighbor of SON

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_017613.4 → NP_060083.1  protein downstream neighbor of Son

    See identical proteins and their annotated locations for NP_060083.1

    Status: VALIDATED

    Source sequence(s)
    AP000304, BC048266, BI463648, BM451848, BM679236
    Consensus CDS
    CCDS13632.1
    UniProtKB/Swiss-Prot
    Q8NC53, Q9NSR9, Q9NVZ5, Q9NYP1, Q9NYP2, Q9NYP3
    UniProtKB/TrEMBL
    F8W8A5
    Related
    ENSP00000307143.4, ENST00000303071.10

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p14 Primary Assembly

    Range
    33577551..33588684 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060945.1 Alternate T2T-CHM13v2.0

    Range
    31959392..31970473 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_145794.1: Suppressed sequence

    Description
    NM_145794.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.

  2. NM_145795.1: Suppressed sequence

    Description
    NM_145795.1: This RefSeq was permanently suppressed because it is a nonsense-mediated decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NYP3.2 GenPept UniProtKB/Swiss-Prot:Q9NYP3

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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