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Aliases for VPS26C Gene

Aliases for VPS26C Gene

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

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.

Additional gene information for VPS26C Gene

No data available for CIViC summary , UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VPS26C Gene

Genomics for VPS26C Gene

GeneHancer (GH) Regulatory Elements for VPS26C Gene

Promoters and enhancers for VPS26C 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
GH21J037266 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 660.7 -0.8 -770 6.1 MLX DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 NFYC VPS26C ENSG00000272948 MORC3 TTC3 PIGP ENSG00000242553 DYRK1A GC21P037297 GC21P037206
GH21J037364 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 12.2 -100.1 -100131 7.1 MLX FEZF1 DMAP1 YY1 ZNF213 ZNF143 ZNF263 SP3 NFYC MEF2D DYRK1A GC21M037368 ENSG00000242553 VPS26C TTC3 LOC100288590 ENSG00000273210
GH21J036319 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10 +946.6 946632 4.6 IRF4 YY1 ZNF213 ZNF143 SP3 NFYC ZNF610 GLIS1 NBN KDM1A MORC3 ENSG00000273199 ENSG00000242553 SETD4 VPS26C ENSG00000228107
GH21J037356 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 17.5 -89.6 -89583 3.4 PKNOX1 ATF1 ARNT ZBTB40 RFX5 GATA2 CAVIN1 CEBPB REST ZNF592 VPS26C DYRK1A GC21P037297
GH21J036384 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 10 +882.5 882496 1.8 ATF1 ARID4B SIN3A E2F8 ZNF143 ZNF207 ATF7 KLF13 SP3 MBD2 GC21M036373 CHAF1B MORC3 VPS26C ENSG00000233818 ATP5MFP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around VPS26C on UCSC Golden Path with GeneCards custom track

Genomic Locations for VPS26C Gene

Genomic Locations for VPS26C Gene
chr21:37,223,420-37,268,124
(GRCh38/hg38)
Size:
44,705 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-DSCR3_HUMAN
    Recommended name:
    Down syndrome critical region protein 3
    Protein Accession:
    O14972
    Secondary Accessions:
    • B2R6T8
    • B7Z6B1
    • D3DSH4
    • Q2TAY6

    Protein attributes for VPS26C Gene

    Size:
    297 amino acids
    Molecular mass:
    33010 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for VPS26C Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VPS26C Gene

Post-translational modifications for VPS26C Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

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

Graphical View of Domain Structure for InterPro Entry

O14972

UniProtKB/Swiss-Prot:

DSCR3_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

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:0008565 protein transporter activity IBA --
genes like me logo Genes that share ontologies with VPS26C: view
genes like me logo Genes that share phenotypes with VPS26C: view

Animal Model Products

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

Localization for VPS26C Gene

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 5
endosome 4
mitochondrion 3
cytosol 3
extracellular 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 --
genes like me logo Genes that share ontologies with VPS26C: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for VPS26C Gene

Pathways & Interactions for VPS26C Gene

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 IBA --
GO:0007165 signal transduction IEA --
GO:0008150 biological_process ND --
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

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

No ASD Table

Relevant External Links for VPS26C Gene

GeneLoc Exon Structure for
VPS26C
ECgene alternative splicing isoforms for
VPS26C

Expression for VPS26C Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

NURSA nuclear receptor signaling pathways regulating expression of VPS26C Gene:

VPS26C

mRNA Expression by UniProt/SwissProt for VPS26C Gene:

O14972-DSCR3_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for VPS26C Gene

  • Nervous system(4.6)
  • Skin(4.2)
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 34 33
  • 99.1 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia DSCR3 34
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia DSCR3 34
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DSCR3 34 33
  • 89.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DSCR3 34 33
  • 87.88 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dscr3 16 34 33
  • 85.25 (n)
rat
(Rattus norvegicus)
Mammalia Dscr3 33
  • 84.68 (n)
chicken
(Gallus gallus)
Aves DSCR3 34 33
  • 80.36 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia DSCR3 34
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dscr3 33
  • 76.66 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.7103 33
zebrafish
(Danio rerio)
Actinopterygii dscr3 34 33
  • 71.49 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9663 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011057 33
  • 59.32 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG4074 34 33
  • 54.47 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G48550 33
  • 50.8 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 51 (a)
OneToOne
Cin.13353 33
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13353 33
Species where no ortholog for VPS26C 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)
  • 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

Pseudogenes.org Pseudogenes for VPS26C Gene

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

No data available for Paralogs for VPS26C Gene

Variants for VPS26C Gene

Sequence variations from dbSNP and Humsavar for VPS26C Gene

SNP ID Clin Chr 21 pos Variation AA Info Type
rs1000016088 -- 37,238,154(-) G/A intron_variant
rs1000023894 -- 37,255,874(-) G/C/T intron_variant
rs1000056599 -- 37,256,143(-) C/T intron_variant
rs1000086277 -- 37,226,353(-) C/A intron_variant
rs1000153224 -- 37,227,553(-) C/G/T intron_variant

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

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

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 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

Additional Disease Information for VPS26C

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. 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 58
  2. Retriever is a multiprotein complex for retromer-independent endosomal cargo recycling. (PMID: 28892079) McNally KE … Cullen PJ (Nature cell biology 2017) 2 3 58
  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 58
  4. The arrestin fold: variations on a theme. (PMID: 19794886) Aubry L … Klein G (Current genomics 2009) 2 3 58
  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 58

Products for VPS26C Gene

Sources for VPS26C Gene

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