Seroatlas · Human Serome Atlas

VPS26C

Vacuolar protein sorting-associated protein 26C

Also known as: DCRA, DSCR3, VP26C_HUMAN

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

Protein identityUniProt · HPA

UniProt accession: O14972
Gene: VPS26C
Ensembl: ENSG00000157538
Chromosome: 21
Canonical length: 297 aa
Protein class: Plasma proteins, Predicted intracellular proteins, Transporters
Subcellular location: Mitochondria

OverviewNCBI Gene

The region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and cognitive disability. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

297 residues, UniProt reviewed canonical sequence.

>O14972|VPS26C
     1  MGTALDIKIK RANKVYHAGE VLSGVVVISS KDSVQHQGVS LTMEGTVNLQ LSAKSVGVFE
    61  AFYNSVKPIQ IINSTIEMVK PGKFPSGKTE IPFEFPLHLK GNKVLYETYH GVFVNIQYTL
   121  RCDMKRSLLA KDLTKTCEFI VHSAPQKGKF TPSPVDFTIT PETLQNVKER ALLPKFLLRG
   181  HLNSTNCVIT QPLTGELVVE SSEAAIRSVE LQLVRVETCG CAEGYARDAT EIQNIQIADG
   241  DVCRGLSVPI YMVFPRLFTC PTLETTNFKV EFEVNIVVLL HPDHLITENF PLKLCRI

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against VPS26C 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): 0.28
Highest tissue expression: 35 nTPM

Expression across tissuesHPA

Tissue

tongue: 35 nTPM
skeletal muscle: 32 nTPM
kidney: 31 nTPM
liver: 28 nTPM
duodenum: 26 nTPM
thymus: 26 nTPM

Single-cell type

rod photoreceptor cells: 86 nCPM
platelets: 73 nCPM
neutrophils: 73 nCPM
kupffer cells: 73 nCPM
neutrophil progenitors: 70 nCPM
myonuclei: 69 nCPM

Immune cell

eosinophil: 85 nTPM
intermediate monocyte: 61 nTPM
basophil: 59 nTPM
non-classical monocyte: 56 nTPM
T-reg: 55 nTPM
total PBMC: 54 nTPM

Brain region

white matter: 19 nTPM
cerebellum: 18 nTPM
thalamus: 18 nTPM
medulla oblongata: 18 nTPM
spinal cord: 17 nTPM
choroid plexus: 17 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about VPS26C.

Disease | GeneticClinVar

1 pathogenic / likely-pathogenic of 50 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Neurodevelopmental 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): 1.06
gnomAD pLI: 0
DepMap mean gene effect: 0.03
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% 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

KeywordsUniProt

Endosome

InteractionsUniProt · HPA

Protein binding partners of VPS26C in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads VPS26C as an antibody target. Whether an autoantibody or antibody against VPS26C could matter depends on whether native VPS26C is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

VPS26C 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 VPS26C as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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