The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. The mouse Skd1 (s... See more...

Aliases for VPS4A Gene

Aliases for VPS4A Gene

  • Vacuolar Protein Sorting 4 Homolog A 2 3 5
  • VPS4-1 2 3 4
  • VPS4 2 3 4
  • Vacuolar Protein Sorting-Associated Protein 4A 3 4
  • SKD1A 2 3
  • HVPS4 3 4
  • SKD1 2 3
  • SKD2 2 3
  • Vacuolar Protein Sorting 4 Homolog A (S. Cerevisiae) 2
  • Vacuolar Protein Sorting 4A (Yeast Homolog) 2
  • Vacuolar Protein Sorting 4A (Yeast) 2
  • Vacuolar Protein Sorting Factor 4A 3
  • Vacuolar Sorting Protein 4 3
  • SKD1-Homolog 3
  • Protein SKD2 4
  • EC 3.6.4.6 4
  • FLJ22197 2
  • VPS4A 5

External Ids for VPS4A Gene

Previous GeneCards Identifiers for VPS4A Gene

  • GC16P060030
  • GC16P069723
  • GC16P069080
  • GC16P069121
  • GC16P067902
  • GC16P069345
  • GC16P055223
  • GC16P069335

Summaries for VPS4A Gene

Entrez Gene Summary for VPS4A Gene

  • The protein encoded by this gene is a member of the AAA protein family (ATPases associated with diverse cellular activities), and is the homolog of the yeast Vps4 protein. In humans, two paralogs of the yeast protein have been identified. The former share a high degree of aa sequence similarity with each other, and also with yeast Vps4 and mouse Skd1 proteins. The mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be really an yeast Vps4 ortholog. Functional studies indicate that both human paralogs associate with the endosomal compartments, and are involved in intracellular protein trafficking, similar to Vps4 protein in yeast. The gene encoding this paralog has been mapped to chromosome 16; the gene for the other resides on chromosome 18. [provided by RefSeq, Jul 2008]

GeneCards Summary for VPS4A Gene

VPS4A (Vacuolar Protein Sorting 4 Homolog A) is a Protein Coding gene. Diseases associated with VPS4A include Submandibular Gland Cancer and Pontocerebellar Hypoplasia, Type 8. Among its related pathways are Necroptosis and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include ATPase activity and protein C-terminus binding. An important paralog of this gene is ENSG00000260914.

UniProtKB/Swiss-Prot Summary for VPS4A Gene

  • Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. In conjunction with the ESCRT machinery also appears to function in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses). Involved in cytokinesis: retained at the midbody by ZFYVE19/ANCHR and CHMP4C until abscission checkpoint signaling is terminated at late cytokinesis. It is then released following dephosphorylation of CHMP4C, leading to abscission (PubMed:24814515). VPS4A/B are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).

Gene Wiki entry for VPS4A Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VPS4A Gene

Genomics for VPS4A Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for VPS4A 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
GH16J069311 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 250.7 +0.3 251 3.2 BCLAF1 SP1 ZNF207 ZNF592 ZMYM3 POLR2A BRCA1 CHD4 YY1 NONO VPS4A SNTB2 LOC400541 PDPR UTP4 DDX19B CHTF8 ENSG00000260290 COG8 PDXDC2P-NPIPB14P
GH16J069316 Promoter/Enhancer 0.9 EPDnew Ensembl 250.7 +4.9 4851 0.4 ATF3 YY1 RXRA ZBTB33 MYC MAX HNF4A RAD21 SP1 NR2F2 VPS4A SNTB2 piR-49937 PDF ENSG00000260914
GH16J069321 Promoter 0.5 EPDnew 250.4 +9.8 9832 0.1 ZNF600 POLR2A HSALNG0112341 piR-31827 piR-49041 piR-52589 piR-49873 VPS4A TMED6 CHTF8 UTP4 lnc-COG8-1
GH16J069328 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 0.4 +18.6 18610 3.3 SP1 ZNF207 MYC ZNF600 IKZF1 ZNF592 KLF9 POLR2A ZNF223 ZNF10 PDF lnc-COG8-1 piR-52380 PDPR SNTB2 UTP4 LOC400541 DDX19B NIP7 TMED6
GH16J069325 Promoter/Enhancer 1.2 Ensembl ENCODE 0.4 +15.6 15624 2.5 ATF3 YY1 MXD4 HOMEZ THAP11 KDM6A MAFF FOXA2 SMAD4 RXRA lnc-COG8-1 piR-32288 piR-30149 lnc-PDF-1 piR-59140 piR-56458 piR-59879 UTP4 TMED6 NIP7
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VPS4A on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VPS4A

Top Transcription factor binding sites by QIAGEN in the VPS4A gene promoter:
  • AP-1
  • AREB6
  • c-Fos
  • GATA-1
  • HNF-4alpha1
  • HSF2
  • NRSF form 1
  • NRSF form 2
  • Pax-5
  • Pbx1a

Genomic Locations for VPS4A Gene

Latest Assembly
chr16:69,311,350-69,326,939
(GRCh38/hg38)
Size:
15,590 bases
Orientation:
Plus strand

Previous Assembly
chr16:69,345,253-69,360,842
(GRCh37/hg19 by Entrez Gene)
Size:
15,590 bases
Orientation:
Plus strand

chr16:69,345,259-69,358,949
(GRCh37/hg19 by Ensembl)
Size:
13,691 bases
Orientation:
Plus strand

Genomic View for VPS4A Gene

Genes around VPS4A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VPS4A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VPS4A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for VPS4A Gene

Proteins for VPS4A Gene

  • Protein details for VPS4A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UN37-VPS4A_HUMAN
    Recommended name:
    Vacuolar protein sorting-associated protein 4A
    Protein Accession:
    Q9UN37
    Secondary Accessions:
    • B2RCB7
    • Q8TF07
    • Q9UI03
    • Q9Y582

    Protein attributes for VPS4A Gene

    Size:
    437 amino acids
    Molecular mass:
    48898 Da
    Quaternary structure:
    • Proposed to be monomeric or homodimeric in nucleotide-free form and to oligomerize upon binding to ATP to form two stacked hexameric or heptameric rings with a central pore through which ESCRT-III substrates are translocated in an ATP-dependent manner (By similarity). Interacts with CHMP1A, CHMP1B, CHMP2A, CHMP2B, CHMP3, CHMP4A, CHMP4B, CHMP4C and CHMP6. Interacts with VPS4B; the interaction suggests a heteromeric assembly with VPS4B. Interacts with SPAST. Interacts with IST1. Interacts with ZFYVE19/ANCHR; leading to retain it at midbody.
    SequenceCaution:
    • Sequence=AAL75948.1; Type=Frameshift; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for VPS4A Gene

neXtProt entry for VPS4A Gene

Post-translational modifications for VPS4A Gene

  • Ubiquitination at Lys210
  • Modification sites at PhosphoSitePlus

Other Protein References for VPS4A Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for VPS4A Gene

Domains & Families for VPS4A Gene

Gene Families for VPS4A Gene

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

Protein Domains for VPS4A Gene

Suggested Antigen Peptide Sequences for VPS4A Gene

GenScript: Design optimal peptide antigens:
  • VPS4A protein (Q49AN7_HUMAN)
  • VPS4-1 (VPS4A_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UN37

UniProtKB/Swiss-Prot:

VPS4A_HUMAN :
  • The MIT domain serves as an adapter for ESCRT-III proteins. It forms an asymmetric three-helix bundle that binds amphipathic MIM (MIT interacting motif) helices along the groove between MIT helices 2 and 3 present in a subset of ESCRT-III proteins thus establishing the canonical MIM-MIT interaction. In an extended conformation along the groove between helices 1 and 3, also binds to a type-2 MIT interacting motif (MIM2).
  • Belongs to the AAA ATPase family.
Domain:
  • The MIT domain serves as an adapter for ESCRT-III proteins. It forms an asymmetric three-helix bundle that binds amphipathic MIM (MIT interacting motif) helices along the groove between MIT helices 2 and 3 present in a subset of ESCRT-III proteins thus establishing the canonical MIM-MIT interaction. In an extended conformation along the groove between helices 1 and 3, also binds to a type-2 MIT interacting motif (MIM2).
Family:
  • Belongs to the AAA ATPase family.
genes like me logo Genes that share domains with VPS4A: view

Function for VPS4A Gene

Molecular function for VPS4A Gene

UniProtKB/Swiss-Prot Function:
Involved in late steps of the endosomal multivesicular bodies (MVB) pathway. Recognizes membrane-associated ESCRT-III assemblies and catalyzes their disassembly, possibly in combination with membrane fission. Redistributes the ESCRT-III components to the cytoplasm for further rounds of MVB sorting. MVBs contain intraluminal vesicles (ILVs) that are generated by invagination and scission from the limiting membrane of the endosome and mostly are delivered to lysosomes enabling degradation of membrane proteins, such as stimulated growth factor receptors, lysosomal enzymes and lipids. In conjunction with the ESCRT machinery also appears to function in topologically equivalent membrane fission events, such as the terminal stages of cytokinesis and enveloped virus budding (HIV-1 and other lentiviruses). Involved in cytokinesis: retained at the midbody by ZFYVE19/ANCHR and CHMP4C until abscission checkpoint signaling is terminated at late cytokinesis. It is then released following dephosphorylation of CHMP4C, leading to abscission (PubMed:24814515). VPS4A/B are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + H2O = ADP + H(+) + phosphate; Xref=Rhea:RHEA:13065, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:43474, ChEBI:CHEBI:456216; EC=3.6.4.6;.

Enzyme Numbers (IUBMB) for VPS4A Gene

Phenotypes From GWAS Catalog for VPS4A Gene

Gene Ontology (GO) - Molecular Function for VPS4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 11559748
GO:0005524 ATP binding IMP --
GO:0008022 protein C-terminus binding IPI 17928862
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with VPS4A: view
genes like me logo Genes that share phenotypes with VPS4A: view

Animal Models for VPS4A Gene

MGI Knock Outs for VPS4A:
  • Vps4a Vps4a<tm1b(EUCOMM)Hmgu>
  • Vps4a Vps4a<tm1.2Thkn>

Animal Models for research

  • Taconic Biosciences Mouse Models for VPS4A

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VPS4A

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for VPS4A Gene

Localization for VPS4A Gene

Subcellular locations from UniProtKB/Swiss-Prot for VPS4A Gene

Prevacuolar compartment membrane. Peripheral membrane protein. Late endosome membrane. Peripheral membrane protein. Midbody. Note=Membrane-associated in the prevacuolar endosomal compartment. Localizes to the midbody of dividing cells, interaction with ZFYVE19/ANCHR mediates retention at midbody (PubMed:24814515). Localized in two distinct rings on either side of the Flemming body. {ECO:0000269 PubMed:24814515}.

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 VPS4A gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
nucleus 5
endosome 5
cytosol 5
lysosome 5
extracellular 4
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for VPS4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IDA 20616062
GO:0005634 nucleus IBA,IDA 20616062
GO:0005737 cytoplasm IDA 11563910
GO:0005764 lysosome IDA --
GO:0005768 endosome IEA,IDA 17940959
genes like me logo Genes that share ontologies with VPS4A: view

Pathways & Interactions for VPS4A Gene

genes like me logo Genes that share pathways with VPS4A: view

Pathways by source for VPS4A Gene

SIGNOR curated interactions for VPS4A Gene

Activates:

Gene Ontology (GO) - Biological Process for VPS4A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000916 actomyosin contractile ring contraction TAS 28242692
GO:0006622 protein targeting to lysosome IMP 16973552
GO:0006900 vesicle budding from membrane IMP 15075231
GO:0006997 nucleus organization IMP 20616062
GO:0006998 nuclear envelope organization TAS 28242692
genes like me logo Genes that share ontologies with VPS4A: view

Drugs & Compounds for VPS4A Gene

(3) Drugs for VPS4A Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Water Approved Pharma 0
Phosphate Experimental Pharma 0
ATP Investigational Nutra 0

(1) Additional Compounds for VPS4A Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
genes like me logo Genes that share compounds with VPS4A: view

Transcripts for VPS4A Gene

mRNA/cDNA for VPS4A Gene

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

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VPS4A

Alternative Splicing Database (ASD) splice patterns (SP) for VPS4A Gene

No ASD Table

Relevant External Links for VPS4A Gene

GeneLoc Exon Structure for
VPS4A

Expression for VPS4A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for VPS4A Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for VPS4A Gene

This gene is overexpressed in Cerebrospinal fluid (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for VPS4A Gene



Protein tissue co-expression partners for VPS4A Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VPS4A

SOURCE GeneReport for Unigene cluster for VPS4A Gene:

Hs.128420

mRNA Expression by UniProt/SwissProt for VPS4A Gene:

Q9UN37-VPS4A_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for VPS4A Gene

  • Kidney(4.5)
  • Skin(4.5)
  • Heart(4.4)
  • Nervous system(4.1)
  • Lung(2.4)
  • Muscle(2.4)
  • Eye(2.3)
  • Liver(2.3)
  • Spleen(2.2)
  • Intestine(2.1)
  • Lymph node(2.1)
genes like me logo Genes that share expression patterns with VPS4A: view

Primer products for research

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for VPS4A Gene

Orthologs for VPS4A Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for VPS4A Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia VPS4A 29 30
  • 99.46 (n)
OneToMany
Dog
(Canis familiaris)
Mammalia -- 30
  • 98 (a)
OneToMany
VPS4A 29
  • 92.14 (n)
Cow
(Bos Taurus)
Mammalia VPS4A 30
  • 97 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 91 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 30
  • 91 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Vps4a 29 16 30
  • 89.09 (n)
OneToMany
Rat
(Rattus norvegicus)
Mammalia Vps4a 29
  • 88.94 (n)
Chicken
(Gallus gallus)
Aves -- 30
  • 90 (a)
OneToMany
VPS4A 29
  • 83.57 (n)
Lizard
(Anolis carolinensis)
Reptilia -- 30
  • 92 (a)
OneToMany
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia vps4a 29
  • 77.78 (n)
Zebrafish
(Danio rerio)
Actinopterygii vps4a 29 30
  • 80.23 (n)
OneToMany
Fruit Fly
(Drosophila melanogaster)
Insecta BcDNA:GH02678 31
  • 72 (a)
Vps4 29 30
  • 71.32 (n)
OneToMany
BG:DS06874.3 31
  • 40 (a)
CG10793 31
  • 37 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000625 29
  • 70.06 (n)
Worm
(Caenorhabditis elegans)
Secernentea vps-4 30
  • 68 (a)
OneToMany
Y34D9A.10 31
  • 57 (a)
K04D7.2a 31
  • 38 (a)
K04D7.2b 31
  • 38 (a)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VPS4 30
  • 59 (a)
OneToMany
Barley
(Hordeum vulgare)
Liliopsida Hv.6235 29
Wheat
(Triticum aestivum)
Liliopsida Ta.1709 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.10007 30
  • 70 (a)
OneToMany
Species where no ortholog for VPS4A was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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 Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for VPS4A Gene

ENSEMBL:
Gene Tree for VPS4A (if available)
TreeFam:
Gene Tree for VPS4A (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VPS4A: view image
Alliance of Genome Resources:
Additional Orthologs for VPS4A

Paralogs for VPS4A Gene

(7) SIMAP similar genes for VPS4A Gene using alignment to 2 proteins:

  • VPS4A_HUMAN
  • Q49AN7_HUMAN
genes like me logo Genes that share paralogs with VPS4A: view

Variants for VPS4A Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VPS4A Gene

SNP ID Clinical significance and condition Chr 16 pos Variation AA Info Type
976850 Pathogenic: Syndromic congenital hemolytic and dyserythropoietic anemia; not provided 69,320,768(+) A/T
NM_013245.3(VPS4A):c.850A>T (p.Arg284Trp)
MISSENSE
976851 Pathogenic: not provided 69,320,768(+) A/G
NM_013245.3(VPS4A):c.850A>G (p.Arg284Gly)
MISSENSE
976852 Pathogenic: not provided 69,319,539(+) G/A
NM_013245.3(VPS4A):c.616G>A (p.Glu206Lys)
MISSENSE
996555 Pathogenic: Syndromic congenital hemolytic and dyserythropoietic anemia 69,319,531(+) G/A
NM_013245.3(VPS4A):c.608G>A (p.Gly203Glu)
MISSENSE
996556 Likely Pathogenic: Syndromic congenital hemolytic and dyserythropoietic anemia 69,316,069(+) C/T
NM_013245.3(VPS4A):c.83C>T (p.Ala28Val)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for VPS4A Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for VPS4A Gene

Variant ID Type Subtype PubMed ID
nsv523736 CNV loss 19592680
nsv827715 CNV loss 20364138

Variation tolerance for VPS4A Gene

Residual Variation Intolerance Score: 25.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.07; 21.82% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VPS4A Gene

Human Gene Mutation Database (HGMD)
VPS4A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VPS4A
Leiden Open Variation Database (LOVD)
VPS4A

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VPS4A Gene

Disorders for VPS4A Gene

MalaCards: The human disease database

(3) MalaCards diseases for VPS4A Gene - From: COP

Disorder Aliases PubMed IDs
submandibular gland cancer
  • malignant neoplasm of submaxillary gland
pontocerebellar hypoplasia, type 8
  • pch8
submandibular gland disease
  • submandibular gland diseases
- elite association - COSMIC cancer census association via MalaCards
Search VPS4A in MalaCards View complete list of genes associated with diseases

Additional Disease Information for VPS4A

genes like me logo Genes that share disorders with VPS4A: view

No data available for UniProtKB/Swiss-Prot and Genatlas for VPS4A Gene

Publications for VPS4A Gene

  1. Mammalian cells express two VPS4 proteins both of which are involved in intracellular protein trafficking. (PMID: 11563910) Scheuring S … Köhrer K (Journal of molecular biology 2001) 2 3 4 22
  2. Essential role of hIST1 in cytokinesis. (PMID: 19129480) Agromayor M … Martin-Serrano J (Molecular biology of the cell 2009) 3 4 22
  3. Biochemical analyses of human IST1 and its function in cytokinesis. (PMID: 19129479) Bajorek M … Sundquist WI (Molecular biology of the cell 2009) 3 4 22
  4. Two distinct modes of ESCRT-III recognition are required for VPS4 functions in lysosomal protein targeting and HIV-1 budding. (PMID: 18606141) Kieffer C … Sundquist WI (Developmental cell 2008) 3 4 22
  5. ESCRT-III recognition by VPS4 ATPases. (PMID: 17928862) Stuchell-Brereton MD … Sundquist WI (Nature 2007) 3 4 22

Products for VPS4A Gene

Sources for VPS4A Gene