Seroatlas · Human Serome Atlas

DONSON

Protein downstream neighbor of Son

Also known as: B17, C21orf60, C2TA, DKFZP434M035, DONS_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q9NYP3
Gene: DONSON
Ensembl: ENSG00000159147
Chromosome: 21
Canonical length: 566 aa
Protein class: Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, Predicted membrane proteins
Subcellular location: Nucleoplasm,Cell Junctions,Cytosol

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

566 residues, UniProt reviewed canonical sequence.

>Q9NYP3|DONSON
     1  MALSVPGYSP GFRKPPEVVR LRRKRARSRG AAASPPRELT EPAARRAALV AGLPLRPFPA
    61  AGGRGGGSGG GPAAARRNPF ARLDNRPRVA AEPPDGPARE QPEAPVPFLD SNQENDLLWE
   121  EKFPERTTVT ELPQTSHVSF SEPDIPSSKS TELPVDWSIK TRLLFTSSQP FTWADHLKAQ
   181  EEAQGLVQHC RATEVTLPKS IQDPKLSSEL RCTFQQSLIY WLHPALSWLP LFPRIGADRK
   241  MAGKTSPWSN DATLQHVLMS DWSVSFTSLY NLLKTKLCPY FYVCTYQFTV LFRAAGLAGS
   301  DLITALISPT TRGLREAMRN EGIEFSLPLI KESGHKKETA SGTSLGYGEE QAISDEDEEE
   361  SFSWLEEMGV QDKIKKPDIL SIKLRKEKHE VQMDHRPESV VLVKGINTFT LLNFLINSKS
   421  LVATSGPQAG LPPTLLSPVA FRGATMQMLK ARSVNVKTQA LSGYRDQFSL EITGPIMPHS
   481  LHSLTMLLKS SQSGSFSAVL YPHEPTAVFN ICLQMDKVLD MEVVHKELTN CGLHPNTLEQ
   541  LSQIPLLGKS SLRNVVLRDY IYNWRS

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against DONSON can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.41
Highest tissue expression: 20 nTPM

Expression across tissuesHPA

Tissue

testis: 20 nTPM
retina: 12 nTPM
ovary: 12 nTPM
bone marrow: 10 nTPM
thymus: 9.9 nTPM
lymph node: 9.8 nTPM

Single-cell type

epicardial cells: 746 nCPM
cardiomyocytes: 514 nCPM
adipocytes: 87 nCPM
early primary spermatocytes: 78 nCPM
early spermatids: 67 nCPM
late primary spermatocytes: 50 nCPM

Immune cell

gdT-cell: 0.2 nTPM
intermediate monocyte: 0.1 nTPM
memory CD4 T-cell: 0.1 nTPM
naive CD4 T-cell: 0.1 nTPM
basophil: 0 nTPM
classical monocyte: 0 nTPM

Brain region

white matter: 16 nTPM
cerebellum: 15 nTPM
medulla oblongata: 13 nTPM
pons: 13 nTPM
thalamus: 13 nTPM
cerebral cortex: 12 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about DONSON.

Disease | AllUniProt

Conditions DONSON is implicated in, by any mechanism.

Microcephaly-micromelia syndrome (MIMIS) MIM:251230
Microcephaly, short stature, and limb abnormalities (MISSLA) MIM:617604

Disease | GeneticClinVar

47 pathogenic / likely-pathogenic of 313 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Microcephaly, short stature, and limb abnormalities
Microcephaly-micromelia syndrome
Inborn genetic diseases
Meier-Gorlin syndrome
DONSON-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 0.91
gnomAD pLI: 0
gnomAD missense Z: 0.24
DepMap mean gene effect: -2.16
DepMap dependency class: pan

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

Donson

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of DONSON in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

MCM2

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads DONSON as an antibody target. Whether an autoantibody or antibody against DONSON could matter depends on whether native DONSON is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

DONSON is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label DONSON as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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