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Aliases for VPS8 Gene

Aliases for VPS8 Gene

  • VPS8, CORVET Complex Subunit 2 3 5
  • KIAA0804 2 3 4
  • Vacuolar Protein Sorting-Associated Protein 8 Homolog 3
  • Vacuolar Protein Sorting 8 Homolog (S. Cerevisiae) 2
  • Vacuolar Protein Sorting 8 Homolog 3

External Ids for VPS8 Gene

Previous HGNC Symbols for VPS8 Gene

  • KIAA0804

Previous GeneCards Identifiers for VPS8 Gene

  • GC03P186012
  • GC03P184529
  • GC03P181939

Summaries for VPS8 Gene

GeneCards Summary for VPS8 Gene

VPS8 (VPS8, CORVET Complex Subunit) is a Protein Coding gene. GO annotations related to this gene include binding.

UniProtKB/Swiss-Prot for VPS8 Gene

  • Plays a role in vesicle-mediated protein trafficking of the endocytic membrane transport pathway. Believed to act as a component of the putative CORVET endosomal tethering complexes which is proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:25266290). Functions predominantly in APPL1-containing endosomes (PubMed:25266290).

Additional gene information for VPS8 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VPS8 Gene

Genomics for VPS8 Gene

Regulatory Elements for VPS8 Gene

Enhancers for VPS8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H184804 1.3 FANTOM5 Ensembl ENCODE 51.5 -6.3 -6337 2 HDAC1 PKNOX1 FOXA2 NFIB FEZF1 YY1 CTBP1 FOXK2 TCF7L2 SMARCE1 VPS8 EPHB3 LINC01840 C3orf70 LOC105374253
GH03H184815 0.9 Ensembl ENCODE 27.8 +3.4 3410 0 ZBTB21 INSM2 CEBPB ATF2 OSR2 FOSL1 HIC1 PRDM6 ZNF629 CREB1 VPS8 GC03P184954
GH03H185068 0.7 ENCODE 35 +257.5 257478 1 CTCF MXI1 KLF1 SAP130 TAL1 MAX RAD21 TCF12 POLR2A NCOR1 VPS8 C3orf70 GC03P185005 GC03P185006 GC03P185008 PIR58156
GH03H184899 0.8 ENCODE dbSUPER 26 +88.0 87975 1 ZNF26 POU5F1 REST ETS1 VPS8 POLR2H GC03P184954
GH03H185253 1 ENCODE 16.8 +442.0 441976 1 PKNOX1 ATF1 DMAP1 YY1 GLIS2 ATF7 RUNX3 SP3 ZHX2 MXD4 VPS8 MAP3K13 MIR5588 EHHADH
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around VPS8 on UCSC Golden Path with GeneCards custom track

Promoters for VPS8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000163001 263 1201 HDGF ATF1 MLX ARID4B SIN3A DMAP1 BRCA1 YY1 ZNF121 SLC30A9

Genomic Location for VPS8 Gene

Chromosome:
3
Start:
184,812,137 bp from pter
End:
185,052,614 bp from pter
Size:
240,478 bases
Orientation:
Plus strand

Genomic View for VPS8 Gene

Genes around VPS8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VPS8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VPS8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VPS8 Gene

Proteins for VPS8 Gene

  • Protein details for VPS8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q8N3P4-VPS8_HUMAN
    Recommended name:
    Vacuolar protein sorting-associated protein 8 homolog
    Protein Accession:
    Q8N3P4
    Secondary Accessions:
    • A8K8Q8
    • B9EIQ1
    • C9JB61
    • O94896
    • Q63HP2
    • Q9BVP9
    • Q9H9B0

    Protein attributes for VPS8 Gene

    Size:
    1428 amino acids
    Molecular mass:
    161754 Da
    Quaternary structure:
    • Interacts with RAB5C (By similarity). Interacts with TGFBRAP1 (PubMed:25266290). Component of the putative class C core vacuole/endosome tethering (CORVET) complex; the core of which composed of the class C Vps proteins VPS11, VPS16, VPS18 and VPS33A, is associated with VPS8 and TGFBRAP1 (PubMed:25266290).
    SequenceCaution:
    • Sequence=BAB14322.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAH56195.1; Type=Frameshift; Positions=325; Evidence={ECO:0000305};

    Alternative splice isoforms for VPS8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for VPS8 Gene

Post-translational modifications for VPS8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for VPS8 Gene

Domains & Families for VPS8 Gene

Gene Families for VPS8 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for VPS8 Gene

Graphical View of Domain Structure for InterPro Entry

Q8N3P4

UniProtKB/Swiss-Prot:

VPS8_HUMAN :
  • Belongs to the VPS8 family.
Family:
  • Belongs to the VPS8 family.
genes like me logo Genes that share domains with VPS8: view

Function for VPS8 Gene

Molecular function for VPS8 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in vesicle-mediated protein trafficking of the endocytic membrane transport pathway. Believed to act as a component of the putative CORVET endosomal tethering complexes which is proposed to be involved in the Rab5-to-Rab7 endosome conversion probably implicating MON1A/B, and via binding SNAREs and SNARE complexes to mediate tethering and docking events during SNARE-mediated membrane fusion. The CORVET complex is proposed to function as a Rab5 effector to mediate early endosome fusion probably in specific endosome subpopulations (PubMed:25266290). Functions predominantly in APPL1-containing endosomes (PubMed:25266290).

Phenotypes From GWAS Catalog for VPS8 Gene

Gene Ontology (GO) - Molecular Function for VPS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25266290
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with VPS8: view
genes like me logo Genes that share phenotypes with VPS8: view

Animal Model Products

CRISPR Products

miRNA for VPS8 Gene

miRTarBase miRNAs that target VPS8

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for VPS8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for VPS8 Gene

Localization for VPS8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VPS8 Gene

Early 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 VPS8 gene
Compartment Confidence
endosome 5
cytosol 3
plasma membrane 2
nucleus 2
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Plasma membrane (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for VPS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005769 early endosome IEA,IDA 25266290
GO:0033263 CORVET complex IEA --
genes like me logo Genes that share ontologies with VPS8: view

Pathways & Interactions for VPS8 Gene

No Data Available

Interacting Proteins for VPS8 Gene

Gene Ontology (GO) - Biological Process for VPS8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0015031 protein transport IEA --
GO:0034058 endosomal vesicle fusion IMP 25266290
genes like me logo Genes that share ontologies with VPS8: view

No data available for Pathways by source and SIGNOR curated interactions for VPS8 Gene

Drugs & Compounds for VPS8 Gene

No Compound Related Data Available

Transcripts for VPS8 Gene

Unigene Clusters for VPS8 Gene

Vacuolar protein sorting 8 homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for VPS8
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for VPS8 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^
SP1: - - -
SP2:
SP3: - -
SP4: - -
SP5: -
SP6:
SP7:
SP8:
SP9: -
SP10:

ExUns: 20a · 20b ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27a · 27b ^ 28a · 28b ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^
SP1: - - -
SP2: -
SP3:
SP4:
SP5: - -
SP6:
SP7:
SP8: - -
SP9:
SP10:

ExUns: 43 ^ 44 ^ 45 ^ 46 ^ 47
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for VPS8 Gene

GeneLoc Exon Structure for
VPS8
ECgene alternative splicing isoforms for
VPS8

Expression for VPS8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for VPS8 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for VPS8 Gene

This gene is overexpressed in Lymph node (12.2), Frontal cortex (7.0), and Placenta (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for VPS8 Gene



Protein tissue co-expression partners for VPS8 Gene

NURSA nuclear receptor signaling pathways regulating expression of VPS8 Gene:

VPS8

SOURCE GeneReport for Unigene cluster for VPS8 Gene:

Hs.269263

Evidence on tissue expression from TISSUES for VPS8 Gene

  • Nervous system(4.7)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with VPS8: view

Primer Products

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for VPS8 Gene

Orthologs for VPS8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for VPS8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia VPS8 33 34
  • 98.9 (n)
dog
(Canis familiaris)
Mammalia VPS8 33 34
  • 93.6 (n)
cow
(Bos Taurus)
Mammalia VPS8 33 34
  • 92.85 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 92 (a)
OneToMany
-- 34
  • 90 (a)
OneToMany
-- 34
  • 90 (a)
OneToMany
-- 34
  • 90 (a)
OneToMany
-- 34
  • 80 (a)
OneToMany
-- 34
  • 76 (a)
OneToMany
-- 34
  • 71 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia VPS8 34
  • 89 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Vps8 33 16 34
  • 85.86 (n)
rat
(Rattus norvegicus)
Mammalia Vps8 33
  • 85.67 (n)
chicken
(Gallus gallus)
Aves VPS8 33 34
  • 76.92 (n)
lizard
(Anolis carolinensis)
Reptilia VPS8 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia vps8 33
  • 70.75 (n)
Str.17234 33
zebrafish
(Danio rerio)
Actinopterygii vps8 33 34
  • 67.52 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG10144 33 34
  • 46.85 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007578 33
  • 44.2 (n)
worm
(Caenorhabditis elegans)
Secernentea C42C1.4 33 34
  • 42.4 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS8 34 36
  • 18 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G00800 33
  • 44.71 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 43 (a)
OneToOne
Species where no ortholog for VPS8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)

Evolution for VPS8 Gene

ENSEMBL:
Gene Tree for VPS8 (if available)
TreeFam:
Gene Tree for VPS8 (if available)

Paralogs for VPS8 Gene

No data available for Paralogs for VPS8 Gene

Variants for VPS8 Gene

Sequence variations from dbSNP and Humsavar for VPS8 Gene

SNP ID Clin Chr 03 pos Sequence Context AA Info Type
rs1000005244 -- 184,886,366(+) TGTCT(C/G)TGTGG intron-variant
rs1000008624 -- 184,984,701(+) TACTT(A/T)TGAGG intron-variant
rs1000015405 -- 184,999,213(+) CCACC(A/G)CGTCC intron-variant
rs1000027891 -- 185,029,379(+) ACTCT(C/G)CTGTC intron-variant
rs1000030122 -- 184,931,997(+) AGCTA(A/G)GGGAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for VPS8 Gene

Variant ID Type Subtype PubMed ID
esv26122 CNV gain 19812545
esv2643797 CNV insertion 19546169
esv2661930 CNV deletion 23128226
esv2726320 CNV deletion 23290073
esv3422145 CNV insertion 20981092
esv3598946 CNV gain 21293372
esv3598957 CNV gain 21293372
esv3598958 CNV gain 21293372
esv3598959 CNV loss 21293372
nsv1011155 CNV gain 25217958
nsv1119514 CNV insertion 24896259
nsv473754 CNV novel sequence insertion 20440878
nsv520816 CNV gain 19592680

Variation tolerance for VPS8 Gene

Residual Variation Intolerance Score: 72% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.84; 91.76% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VPS8 Gene

Human Gene Mutation Database (HGMD)
VPS8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VPS8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VPS8 Gene

Disorders for VPS8 Gene

Relevant External Links for VPS8

Genetic Association Database (GAD)
VPS8
Human Genome Epidemiology (HuGE) Navigator
VPS8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VPS8

No disorders were found for VPS8 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for VPS8 Gene

Publications for VPS8 Gene

  1. Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9872452) Nagase T … Ohara O (DNA research : an international journal for rapid publication of reports on genes and genomes 1998) 2 3 4 60
  2. Mammalian CORVET is required for fusion and conversion of distinct early endosome subpopulations. (PMID: 25266290) Perini ED … Zerial M (Traffic (Copenhagen, Denmark) 2014) 3 4 60
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 60
  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 60

Products for VPS8 Gene

Sources for VPS8 Gene

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