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VPS35 Gene(Protein Coding)

VPS35, Retromer Complex Component

GCID:
GC16M046661
GIFtS:
60
Genes Participants
UDN Logo

Aliases for VPS35 Gene

Aliases for VPS35 Gene

  • VPS35, Retromer Complex Component 2 3 5
  • Maternal-Embryonic 3 3 4
  • HVPS35 3 4
  • MEM3 3 4
  • Vacuolar Protein Sorting 35 Homolog (S. Cerevisiae) 2
  • Vacuolar Protein Sorting-Associated Protein 35 3
  • Vacuolar Protein Sorting 35 Homolog 3
  • Vesicle Protein Sorting 35 4
  • PARK17 3

External Ids for VPS35 Gene

Previous GeneCards Identifiers for VPS35 Gene

  • GC16M037104
  • GC16M046634
  • GC16M046433
  • GC16M046475
  • GC16M046474
  • GC16M045251
  • GC16M046691
  • GC16M032582

Summaries for VPS35 Gene

Entrez Gene Summary for VPS35 Gene

  • This gene belongs to a group of vacuolar protein sorting (VPS) genes. The encoded protein is a component of a large multimeric complex, termed the retromer complex, involved in retrograde transport of proteins from endosomes to the trans-Golgi network. The close structural similarity between the yeast and human proteins that make up this complex suggests a similarity in function. Expression studies in yeast and mammalian cells indicate that this protein interacts directly with VPS35, which serves as the core of the retromer complex. [provided by RefSeq, Jul 2008]

GeneCards Summary for VPS35 Gene

VPS35 (VPS35, Retromer Complex Component) is a Protein Coding gene. Diseases associated with VPS35 include Parkinson Disease 17 and Hereditary Late-Onset Parkinson Disease. Among its related pathways are Signaling by GPCR and Signaling by Wnt. GO annotations related to this gene include binding and protein transporter activity.

UniProtKB/Swiss-Prot for VPS35 Gene

  • Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The CSC seems to associate with the cytoplasmic domain of cargo proteins predominantly via VPS35; however, these interactions seem to be of low affinity and retromer SNX proteins may also contribute to cargo selectivity thus questioning the classical function of the CSC. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX3-retromer mediates the retrograde endosome-to-TGN transport of WLS distinct from the SNX-BAR retromer pathway. The SNX27-retromer is believed to be involved in endosome-to-plasma membrane trafficking and recycling of a broad spectrum of cargo proteins. The CSC seems to act as recruitment hub for other proteins, such as the WASH complex and TBC1D5 (Probable). Required for retrograde transport of lysosomal enzyme receptor IGF2R and SLC11A2. Required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA) (PubMed:15078903, PubMed:15247922, PubMed:20164305). Required for endosomal localization of WASHC2C (PubMed:22070227). Mediates the association of the CSC with the WASH complex via WASHC2 (PubMed:22070227, PubMed:24980502, PubMed:24819384). Required for the endosomal localization of TBC1D5 (PubMed:20923837).

Gene Wiki entry for VPS35 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for VPS35 Gene

Genomics for VPS35 Gene

Products:

  1. Regulatory Element

Regulatory Elements for VPS35 Gene

Enhancers for VPS35 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
GH16G046746 1.4 FANTOM5 ENCODE dbSUPER 11.2 -58.8 -58835 3.7 PKNOX1 ATF1 NFIB ARID4B THRB ZNF48 RARA EGR1 FOS RELB MYLK3 SHCBP1 VPS35 ORC6 GPT2 GC16M046768 GC16P046705
GH16G046711 1.1 Ensembl ENCODE dbSUPER 11.5 -22.0 -21983 0.6 RFX1 SAP130 NRF1 HLF CEBPB CEBPG CEBPA ZBTB33 MYLK3 ORC6 VPS35 GC16P046705 GC16M046768
GH16G046658 1 Ensembl ENCODE 11.9 +30.3 30255 1.5 CTCF TBL1XR1 MAX ZNF384 RELA POLR2A EED ZNF143 ETV6 RELB VPS35 ORC6 ENSG00000261131 PIR53331
GH16G046832 0.8 ENCODE 11.1 -143.4 -143426 0.2 SOX13 SAP130 ARID4B CEBPG ZNF384 ZNF644 RARA YY1 ZNF664 NR2F6 VPS35 ORC6 GPT2 C16orf87 CKBP1
GH16G046735 0.7 dbSUPER 11.5 -47.6 -47632 3.6 SOX13 FOXA2 PKNOX1 CEBPG THRB ZNF644 ZNF121 SOX5 HLF FOXA3 MYLK3 VPS35 ORC6 SHCBP1 GPT2 GC16P046705 GC16M046768
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around VPS35 on UCSC Golden Path with GeneCards custom track

Promoters for VPS35 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000085468 118 2801 HDGF PKNOX1 FOXA2 MLX AGO1 ZFP64 ARID4B SIN3A FEZF1 DMAP1

Transcription factor binding sites by QIAGEN in the VPS35 gene promoter:

Genomic Location for VPS35 Gene

Chromosome:
16
Start:
46,656,132 bp from pter
End:
46,689,518 bp from pter
Size:
33,387 bases
Orientation:
Minus strand

Genomic View for VPS35 Gene

Genes around VPS35 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VPS35 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VPS35 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for VPS35 Gene

Proteins for VPS35 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for VPS35 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96QK1-VPS35_HUMAN
    Recommended name:
    Vacuolar protein sorting-associated protein 35
    Protein Accession:
    Q96QK1
    Secondary Accessions:
    • Q561W2
    • Q9H016
    • Q9H096
    • Q9H4P3
    • Q9H8J0
    • Q9NRS7
    • Q9NVG2
    • Q9NX80
    • Q9NZK2

    Protein attributes for VPS35 Gene

    Size:
    796 amino acids
    Molecular mass:
    91707 Da
    Quaternary structure:
    • Component of the heterotrimeric retromer cargo-selective complex (CSC), also decribed as vacuolar protein sorting subcomplex (VPS), formed by VPS26 (VPS26A or VPS26B), VPS29 and VPS35 (PubMed:11102511). The CSC has a highly elongated structure with VPS26 and VPS29 binding independently at opposite distal ends of VPS35 as central platform (By similarity). The CSC is believed to associate with variable sorting nexins to form functionally distinct retromer complex variants. The originally described retromer complex (also called SNX-BAR retromer) is a pentamer containing the CSC and a heterodimeric membrane-deforming subcomplex formed between SNX1 or SNX2 and SNX5 or SNX6 (also called SNX-BAR subcomplex); the respective CSC and SNX-BAR subcomplexes associate with low affinity. The CSC associates with SNX3 to form a SNX3-retromer complex. The CSC associates with SNX27, the WASH complex and the SNX-BAR subcomplex to form the SNX27-retromer complex (Probable). Interacts with VPS26A, VPS26B, VPS29, SNX1, SNX2, IGF2R, SNX3, GOLPH3, LRRK2, SLC11A2, WASHC2A, WASHC2C, FKBP15, WASHC1, RAB7A, SNX27, WASHC5, EHD1 (PubMed:11102511, PubMed:15078903, PubMed:17868075PubMed:22070227, PubMed:19553991, PubMed:21725319, PubMed:22070227, PubMed:22513087, PubMed:23331060, PubMed:23563491, PubMed:23395371, PubMed:24344282, PubMed:24980502, PubMed:17891154, PubMed:19531583). Interacts with MAGEL2; leading to recruitment of the TRIM27:MAGEL2 E3 ubiquitin ligase complex retromer-containing endosomes (PubMed:23452853).
    SequenceCaution:
    • Sequence=AAG01989.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAA91137.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB14626.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for VPS35 Gene

neXtProt entry for VPS35 Gene

Protein Expression for VPS35 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for VPS35 Gene

  • Ubiquitination at isoforms=24 and posLast=396396
  • Modification sites at PhosphoSitePlus

Other Protein References for VPS35 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for VPS35 Gene

Domains & Families for VPS35 Gene

Gene Families for VPS35 Gene

HGNC:

Protein Domains for VPS35 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for VPS35 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q96QK1

UniProtKB/Swiss-Prot:

VPS35_HUMAN :
  • Belongs to the VPS35 family.
Family:
  • Belongs to the VPS35 family.
genes like me logo Genes that share domains with VPS35: view

Function for VPS35 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line
  7. Flow Cytometry

Molecular function for VPS35 Gene

UniProtKB/Swiss-Prot Function:
Acts as component of the retromer cargo-selective complex (CSC). The CSC is believed to be the core functional component of retromer or respective retromer complex variants acting to prevent missorting of selected transmembrane cargo proteins into the lysosomal degradation pathway. The recruitment of the CSC to the endosomal membrane involves RAB7A and SNX3. The CSC seems to associate with the cytoplasmic domain of cargo proteins predominantly via VPS35; however, these interactions seem to be of low affinity and retromer SNX proteins may also contribute to cargo selectivity thus questioning the classical function of the CSC. The SNX-BAR retromer mediates retrograde transport of cargo proteins from endosomes to the trans-Golgi network (TGN) and is involved in endosome-to-plasma membrane transport for cargo protein recycling. The SNX3-retromer mediates the retrograde endosome-to-TGN transport of WLS distinct from the SNX-BAR retromer pathway. The SNX27-retromer is believed to be involved in endosome-to-plasma membrane trafficking and recycling of a broad spectrum of cargo proteins. The CSC seems to act as recruitment hub for other proteins, such as the WASH complex and TBC1D5 (Probable). Required for retrograde transport of lysosomal enzyme receptor IGF2R and SLC11A2. Required to regulate transcytosis of the polymeric immunoglobulin receptor (pIgR-pIgA) (PubMed:15078903, PubMed:15247922, PubMed:20164305). Required for endosomal localization of WASHC2C (PubMed:22070227). Mediates the association of the CSC with the WASH complex via WASHC2 (PubMed:22070227, PubMed:24980502, PubMed:24819384). Required for the endosomal localization of TBC1D5 (PubMed:20923837).

Gene Ontology (GO) - Molecular Function for VPS35 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 11102511
GO:0008565 protein transporter activity IEA --
GO:0031748 D1 dopamine receptor binding IPI 27460146
genes like me logo Genes that share ontologies with VPS35: view
genes like me logo Genes that share phenotypes with VPS35: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for VPS35 Gene

Localization for VPS35 Gene

Subcellular locations from UniProtKB/Swiss-Prot for VPS35 Gene

Cytoplasm. Membrane; Peripheral membrane protein. Endosome. Early endosome. Late endosome. Note=Localizes to tubular profiles adjacent to endosomes. {ECO:0000269 PubMed:15078903}.

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 VPS35 gene
Compartment Confidence
extracellular 5
cytosol 5
lysosome 5
endosome 5
plasma membrane 3
nucleus 2
golgi apparatus 2
cytoskeleton 1
mitochondrion 1

Gene Ontology (GO) - Cellular Components for VPS35 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 colocalizes_with mitochondrion IDA 26618722
GO:0005764 lysosome IDA --
GO:0005765 lysosomal membrane IDA 17897319
GO:0005768 endosome IDA,IEA 15078903
genes like me logo Genes that share ontologies with VPS35: view

Pathways & Interactions for VPS35 Gene

genes like me logo Genes that share pathways with VPS35: view

Pathways by source for VPS35 Gene

1 KEGG pathway for VPS35 Gene

Gene Ontology (GO) - Biological Process for VPS35 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0007040 lysosome organization IEA --
GO:0010628 positive regulation of gene expression IDA 26618722
GO:0010629 negative regulation of gene expression IEA --
GO:0010821 regulation of mitochondrion organization IGI 26618722
genes like me logo Genes that share ontologies with VPS35: view

No data available for SIGNOR curated interactions for VPS35 Gene

Drugs & Compounds for VPS35 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for VPS35 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for VPS35 Gene

(3) REFSEQ mRNAs :
(16) Additional mRNA sequences :
(621) Selected AceView cDNA sequences:
(12) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for VPS35 Gene

Vacuolar protein sorting 35 homolog (S. cerevisiae):
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for VPS35 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c · 9d ^ 10a · 10b · 10c · 10d ^ 11 ^ 12 ^ 13 ^ 14 ^
SP1: - - - - -
SP2: - - - -
SP3: - - - - -
SP4: - - - - - - -
SP5: - - - - - - -
SP6: - - - - - - - -
SP7: - - - - - - - - - - - - - -
SP8: - - - - - -
SP9: - - -
SP10: - - -
SP11:
SP12:
SP13:
SP14: - -

ExUns: 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:
SP13:
SP14:

Relevant External Links for VPS35 Gene

GeneLoc Exon Structure for
VPS35
ECgene alternative splicing isoforms for
VPS35

Expression for VPS35 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for VPS35 Gene

mRNA expression in normal human tissues for VPS35 Gene
mRNA expression by BioGPS for VPS35 GenemRNA expression by GTEx for VPS35 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for VPS35 Gene



Protein tissue co-expression partners for VPS35 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of VPS35 Gene:

VPS35

SOURCE GeneReport for Unigene cluster for VPS35 Gene:

Hs.454528

mRNA Expression by UniProt/SwissProt for VPS35 Gene:

Q96QK1-VPS35_HUMAN
Tissue specificity: Ubiquitous. Highly expressed in heart, brain, placenta, skeletal muscle, spleen, thymus, testis, ovary, small intestine, kidney and colon.

Evidence on tissue expression from TISSUES for VPS35 Gene

  • Nervous system(5)
  • Lung(4.6)
  • Intestine(4.5)
  • Liver(4.4)
  • Skin(2.9)
  • Kidney(2.5)

Phenotype-based relationships between genes and organs from Gene ORGANizer for VPS35 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • ear
  • head
  • mouth
  • olfactory bulb
  • pharynx
Thorax:
  • diaphragm
  • esophagus
  • heart
  • lung
Abdomen:
  • stomach
Pelvis:
  • urethra
  • urinary bladder
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with VPS35: view

Primer Products

No data available for mRNA differential expression in normal tissues and Protein differential expression in normal tissues for VPS35 Gene

Orthologs for VPS35 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for VPS35 Gene

Organism Taxonomy Gene Similarity Type Details
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 35
  • 100 (a)
 OneToMany
-- 35
  • 99 (a)
 OneToMany
chimpanzee
(Pan troglodytes)
 Mammalia VPS35 34 35
  • 99.71 (n)
oppossum
(Monodelphis domestica)
 Mammalia VPS35 35
  • 99 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia VPS35 34 35
  • 94.85 (n)
cow
(Bos Taurus)
 Mammalia VPS35 34 35
  • 94.64 (n)
rat
(Rattus norvegicus)
 Mammalia Vps35 34
  • 91.54 (n)
mouse
(Mus musculus)
 Mammalia Vps35 34 16 35
  • 91.46 (n)
chicken
(Gallus gallus)
 Aves VPS35 34 35
  • 84.21 (n)
lizard
(Anolis carolinensis)
 Reptilia VPS35 35
  • 92 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia Str.4247 34
African clawed frog
(Xenopus laevis)
 Amphibia Xl.8144 34
zebrafish
(Danio rerio)
 Actinopterygii vps35 34 35
  • 76.76 (n)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP007683 34
  • 60.71 (n)
fruit fly
(Drosophila melanogaster)
 Insecta Vps35 34 35
  • 60.03 (n)
CG5625 36
  • 58 (a)
worm
(Caenorhabditis elegans)
 Secernentea vps-35 34 35
  • 55.04 (n)
baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes VPS35 34 35 37
  • 52.12 (n)
K. lactis yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0B07535g 34
  • 47.47 (n)
A. gosspyii yeast
(Ashbya gossypii)
 Saccharomycetes AGOS_AEL107W 34
  • 46.63 (n)
thale cress
(Arabidopsis thaliana)
 eudicotyledons VPS35B 34
  • 52.62 (n)
rice
(Oryza sativa)
 Liliopsida Os03g0801600 34
  • 53.42 (n)
sea squirt
(Ciona savignyi)
 Ascidiacea -- 35
  • 65 (a)
 OneToOne
bread mold
(Neurospora crassa)
 Ascomycetes NCU06284 34
  • 51.16 (n)
fission yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes vps35 34
  • 48.53 (n)
Species where no ortholog for VPS35 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • 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 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 VPS35 Gene

ENSEMBL:
Gene Tree for VPS35 (if available)
TreeFam:
Gene Tree for VPS35 (if available)

Paralogs for VPS35 Gene

(1) SIMAP similar genes for VPS35 Gene using alignment to 4 proteins:

Pseudogenes.org Pseudogenes for VPS35 Gene

genes like me logo Genes that share paralogs with VPS35: view

No data available for Paralogs for VPS35 Gene

Variants for VPS35 Gene

Sequence variations from dbSNP and Humsavar for VPS35 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs188286943 Pathogenic, Parkinson disease 17 (PARK17) [MIM:614203] 46,662,452(+) GGAAT(C/T)GCTGA reference, missense
rs146795505 Pathogenic 46,689,707(+) CGCCA(C/T)GGGGT nc-transcript-variant, upstream-variant-2KB, reference, missense
rs797044948 Pathogenic 46,671,766(-) TGAGC(A/G)GAGCC reference, missense
rs116254156 Likely benign 46,674,329(+) TGAGC(C/T)TATTG reference, missense
rs140543776 Likely benign 46,660,622(+) TTTTG(A/G)ATAAG reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for VPS35 Gene

Variant ID Type Subtype PubMed ID
dgv2975n100 CNV gain 25217958
esv3571142 CNV gain 25503493
esv3638534 CNV gain 21293372
esv3638538 CNV gain 21293372
esv3638540 CNV gain 21293372
esv3892855 CNV loss 25118596
nsv1066115 CNV gain 25217958
nsv428327 CNV gain 18775914
nsv526656 CNV gain 19592680
nsv572536 CNV loss 21841781

Variation tolerance for VPS35 Gene

Residual Variation Intolerance Score: 7.08% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.42; 27.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for VPS35 Gene

Human Gene Mutation Database (HGMD)
VPS35
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VPS35

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VPS35 Gene

Disorders for VPS35 Gene

MalaCards: The human disease database

(4) MalaCards diseases for VPS35 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
parkinson disease 17
  • autosomal dominant parkinson disease 17
hereditary late-onset parkinson disease
  • autosomal dominant late-onset parkinson disease
vps35-related parkinson disease
parkinson disease, late-onset
  • parkinson disease
- elite association - COSMIC cancer census association via MalaCards
Search VPS35 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

VPS35_HUMAN
  • Parkinson disease 17 (PARK17) [MIM:614203]: An autosomal dominant, adult-onset form of Parkinson disease. Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain. {ECO:0000269 PubMed:21763482, ECO:0000269 PubMed:21763483, ECO:0000269 PubMed:22517097, ECO:0000269 PubMed:23395371, ECO:0000269 PubMed:24819384, ECO:0000269 PubMed:24980502}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for VPS35

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
VPS35
genes like me logo Genes that share disorders with VPS35: view

No data available for Genatlas for VPS35 Gene

Publications for VPS35 Gene

  1. VPS35 mutations in Parkinson disease. (PMID: 21763482) Vilarino-Guell C. … Farrer M.J. (Am. J. Hum. Genet. 2011) 2 3 4 64
  2. Membrane recruitment of the cargo-selective retromer subcomplex is catalysed by the small GTPase Rab7 and inhibited by the Rab-GAP TBC1D5. (PMID: 19531583) Seaman M.N. … Bright N. (J. Cell. Sci. 2009) 3 4 22 64
  3. Human homologues of yeast vacuolar protein sorting 29 and 35. (PMID: 11062004) Edgar A.J. … Polak J.M. (Biochem. Biophys. Res. Commun. 2000) 3 4 22 64
  4. Cloning and characterization of human VPS35 and mouse Vps35 and mapping of VPS35 to human chromosome 16q13-q21. (PMID: 11112353) Zhang P. … Zhao S. (Genomics 2000) 2 3 4 64
  5. A mechanism for retromer endosomal coat complex assembly with cargo. (PMID: 24344282) Harrison M.S. … Burd C.G. (Proc. Natl. Acad. Sci. U.S.A. 2014) 3 4 64

Products for VPS35 Gene

  • Addgene plasmids for VPS35

Sources for VPS35 Gene

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