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) ... See more...

Aliases for VPS26C Gene

Aliases for VPS26C Gene

  • VPS26 Endosomal Protein Sorting Factor C 2 3 5
  • DCRA 2 3 4
  • Vacuolar Protein Sorting-Associated Protein 26C 3 4
  • Down Syndrome Critical Region Protein 3 3 4
  • Down Syndrome Critical Region Protein A 3 4
  • Down Syndrome Critical Region 3 2 3
  • DSCR3 Arrestin Fold Containing 2 3
  • DSCR3 3 4
  • DSCRA 3 4
  • Down Syndrome Critical Region Gene 3 3
  • VPS26C 5

External Ids for VPS26C Gene

Previous HGNC Symbols for VPS26C Gene

  • DSCR3

Summaries for VPS26C Gene

Entrez Gene Summary for VPS26C 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]

GeneCards Summary for VPS26C Gene

VPS26C (VPS26 Endosomal Protein Sorting Factor C) is a Protein Coding gene. Diseases associated with VPS26C include Down Syndrome. An important paralog of this gene is VPS26A.

UniProtKB/Swiss-Prot Summary for VPS26C Gene

  • Acts as component of the retriever complex. The retriever complex is a heterotrimeric complex related to retromer cargo-selective complex (CSC) and essential for retromer-independent retrieval and recycling of numerous cargos such as integrin alpha-5/beta-1 (ITGA5:ITGB1) (PubMed:28892079). The recruitment of the retriever complex to the endosomal membrane involves CCC and WASH complexes (PubMed:28892079). In the endosomes, drives the retriever and recycling of NxxY-motif-containing cargo proteins by coupling to SNX17, a cargo essential for the homeostatic maintenance of numerous cell surface proteins associated with processes that include cell migration, cell adhesion, nutrient supply and cell signaling (PubMed:28892079).
  • (Microbial infection) The heterotrimeric retriever complex, in collaboration with the CCC complex, mediates the exit of human papillomavirus to the cell surface.

Additional gene information for VPS26C Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VPS26C Gene

Genomics for VPS26C Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for VPS26C 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 VPS26C on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VPS26C

Genomic Locations for VPS26C Gene

Genomic Locations for VPS26C Gene
chr21:37,223,420-37,268,108
(GRCh38/hg38)
Size:
44,689 bases
Orientation:
Minus strand
chr21:38,595,721-38,640,262
(GRCh37/hg19)
Size:
44,542 bases
Orientation:
Minus strand

Genomic View for VPS26C Gene

Genes around VPS26C on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VPS26C Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VPS26C Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VPS26C Gene

Proteins for VPS26C Gene

  • Protein details for VPS26C Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O14972-VP26C_HUMAN
    Recommended name:
    Vacuolar protein sorting-associated protein 26C
    Protein Accession:
    O14972
    Secondary Accessions:
    • B2R6T8
    • B7Z6B1
    • D3DSH4
    • Q2TAY6

    Protein attributes for VPS26C Gene

    Size:
    297 amino acids
    Molecular mass:
    33010 Da
    Quaternary structure:
    • Component of the heterotrimeric retriever complex formed by VPS26C, VPS29 and VPS35L (PubMed:28892079). Interacts with SNX17; the interaction is direct and associates SNX17 with the retriever complex (PubMed:28892079). Interacts with SNX31; the interaction is direct (PubMed:28892079).

    Alternative splice isoforms for VPS26C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VPS26C Gene

Post-translational modifications for VPS26C Gene

  • Ubiquitination at Lys149, Lys168, and Lys175
  • Modification sites at PhosphoSitePlus

Other Protein References for VPS26C Gene

No data available for DME Specific Peptides for VPS26C Gene

Domains & Families for VPS26C Gene

Gene Families for VPS26C Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for VPS26C Gene

InterPro:
Blocks:
  • Vacuolar protein sorting-associated protein 26
ProtoNet:

Suggested Antigen Peptide Sequences for VPS26C Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ53689, highly similar to Down syndrome critical region protein 3 (A8MY26_HUMAN)
  • cDNA FLJ59969, highly similar to Down syndrome critical region protein 3 (B7Z606_HUMAN)
  • cDNA, FLJ79359, highly similar to Down syndrome critical region protein 3 (B7Z6B1_HUMAN)
  • Down syndrome critical region protein A (DSCR3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O14972

UniProtKB/Swiss-Prot:

VP26C_HUMAN :
  • Belongs to the VPS26 family.
Family:
  • Belongs to the VPS26 family.
genes like me logo Genes that share domains with VPS26C: view

Function for VPS26C Gene

Molecular function for VPS26C Gene

UniProtKB/Swiss-Prot Function:
Acts as component of the retriever complex. The retriever complex is a heterotrimeric complex related to retromer cargo-selective complex (CSC) and essential for retromer-independent retrieval and recycling of numerous cargos such as integrin alpha-5/beta-1 (ITGA5:ITGB1) (PubMed:28892079). The recruitment of the retriever complex to the endosomal membrane involves CCC and WASH complexes (PubMed:28892079). In the endosomes, drives the retriever and recycling of NxxY-motif-containing cargo proteins by coupling to SNX17, a cargo essential for the homeostatic maintenance of numerous cell surface proteins associated with processes that include cell migration, cell adhesion, nutrient supply and cell signaling (PubMed:28892079).
UniProtKB/Swiss-Prot Function:
(Microbial infection) The heterotrimeric retriever complex, in collaboration with the CCC complex, mediates the exit of human papillomavirus to the cell surface.

Phenotypes From GWAS Catalog for VPS26C Gene

Gene Ontology (GO) - Molecular Function for VPS26C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005515 protein binding IPI 28892079
genes like me logo Genes that share ontologies with VPS26C: view
genes like me logo Genes that share phenotypes with VPS26C: view

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for VPS26C Gene

Localization for VPS26C Gene

Subcellular locations from UniProtKB/Swiss-Prot for VPS26C Gene

Endosome.

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 VPS26C gene
Compartment Confidence
nucleus 4
endosome 4
mitochondrion 3
cytosol 3
plasma membrane 1
extracellular 1
cytoskeleton 1
endoplasmic reticulum 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for VPS26C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus HDA 16780588
GO:0005768 endosome IBA 21873635
genes like me logo Genes that share ontologies with VPS26C: view

Pathways & Interactions for VPS26C Gene

PathCards logo

SuperPathways for VPS26C Gene

No Data Available

Gene Ontology (GO) - Biological Process for VPS26C Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006886 intracellular protein transport IEA,IBA 21873635
GO:0032456 endocytic recycling IMP 28892079
GO:1990126 retrograde transport, endosome to plasma membrane IMP 28892079
genes like me logo Genes that share ontologies with VPS26C: view

No data available for Pathways by source and SIGNOR curated interactions for VPS26C Gene

Drugs & Compounds for VPS26C Gene

No Compound Related Data Available

Transcripts for VPS26C Gene

mRNA/cDNA for VPS26C Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for VPS26C Gene

No ASD Table

Relevant External Links for VPS26C Gene

GeneLoc Exon Structure for
VPS26C

Expression for VPS26C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VPS26C

mRNA Expression by UniProt/SwissProt for VPS26C Gene:

O14972-VP26C_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for VPS26C Gene

  • Intestine(2.3)
  • Nervous system(4.7)
  • Skin(4.4)
genes like me logo Genes that share expression patterns with VPS26C: view

No data available for mRNA expression in normal human tissues , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for VPS26C Gene

Orthologs for VPS26C Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for VPS26C Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia DSCR3 30 31
  • 99.1 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia DSCR3 31
  • 92 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DSCR3 31
  • 91 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia DSCR3 30 31
  • 89.41 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DSCR3 30 31
  • 87.88 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Dscr3 30 31
  • 85.25 (n)
OneToOne
Vps26c 17
Rat
(Rattus norvegicus)
Mammalia Dscr3 30
  • 84.68 (n)
Chicken
(Gallus gallus)
Aves DSCR3 30 31
  • 80.36 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia DSCR3 31
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dscr3 30
  • 76.66 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7103 30
Zebrafish
(Danio rerio)
Actinopterygii dscr3 30 31
  • 71.49 (n)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9663 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011057 30
  • 59.32 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG4074 30 31
  • 54.47 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G48550 30
  • 50.8 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 51 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.13353 30
Species where no ortholog for VPS26C 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 Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for VPS26C Gene

ENSEMBL:
Gene Tree for VPS26C (if available)
TreeFam:
Gene Tree for VPS26C (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VPS26C: view image

Paralogs for VPS26C Gene

Paralogs for VPS26C Gene

Pseudogenes.org Pseudogenes for VPS26C Gene

genes like me logo Genes that share paralogs with VPS26C: view

Variants for VPS26C Gene

Additional dbSNP identifiers (rs#s) for VPS26C Gene

Structural Variations from Database of Genomic Variants (DGV) for VPS26C Gene

Variant ID Type Subtype PubMed ID
dgv70n68 CNV gain 17160897
esv2625731 CNV deletion 19546169

Variation tolerance for VPS26C Gene

Residual Variation Intolerance Score: 38.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.93; 19.19% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VPS26C Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
VPS26C

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VPS26C Gene

Disorders for VPS26C Gene

MalaCards: The human disease database

(1) MalaCards diseases for VPS26C Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
down syndrome
  • trisomy 21
- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with VPS26C: view

No data available for UniProtKB/Swiss-Prot and Genatlas for VPS26C Gene

Publications for VPS26C Gene

  1. Retriever is a multiprotein complex for retromer-independent endosomal cargo recycling. (PMID: 28892079) McNally KE … Cullen PJ (Nature cell biology 2017) 2 3 4
  2. Isolation of a novel human gene from the Down syndrome critical region of chromosome 21q22.2. (PMID: 9399594) Nakamura A … Sakaki Y (Journal of biochemistry 1997) 2 3 4
  3. Evolutionary reconstruction of the retromer complex and its function in Trypanosoma brucei. (PMID: 21502137) Koumandou VL … Field MC (Journal of cell science 2011) 2 3
  4. The arrestin fold: variations on a theme. (PMID: 19794886) Aubry L … Klein G (Current genomics 2009) 2 3
  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 VPS26C Gene

Sources for VPS26C Gene