VPS4B Gene (Protein Coding)

Vacuolar Protein Sorting 4 Homolog B

GC18M063389
GIFtS:
43
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. Mouse Skd1 (suppr... See more...

Aliases for VPS4B Gene

Aliases for VPS4B Gene

  • Vacuolar Protein Sorting 4 Homolog B 2 3 5
  • Vacuolar Protein Sorting-Associated Protein 4B 3 4
  • Suppressor Of K(+) Transport Growth Defect 1 3 4
  • Cell Migration-Inducing Gene 1 Protein 3 4
  • Suppressor Of K+ Transport Defect 1 2 3
  • VPS4-2 2 3
  • SKD1B 2 3
  • SKD1 3 4
  • Vacuolar Protein Sorting 4 Homolog B (S. Cerevisiae) 2
  • Vacuolar Protein Sorting 4B (Yeast) 2
  • Vacuolar Protein Sorting 4B 3
  • Cell Migration-Inducing 1 3
  • Protein SKD1 4
  • EC 3.6.4.6 4
  • VPS4B 5
  • VPS42 4
  • MIG1 3

External Ids for VPS4B Gene

Previous HGNC Symbols for VPS4B Gene

  • SKD1

Previous GeneCards Identifiers for VPS4B Gene

  • GC18M060895
  • GC18M061029
  • GC18M060841
  • GC18M059205
  • GC18M059207
  • GC18M057754
  • GC18M061056

Summaries for VPS4B Gene

Entrez Gene Summary for VPS4B 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. Mouse Skd1 (suppressor of K+ transport defect 1) has been shown to be a 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 18; the gene for the other resides on chromosome 16. [provided by RefSeq, Jul 2008]

GeneCards Summary for VPS4B Gene

VPS4B (Vacuolar Protein Sorting 4 Homolog B) is a Protein Coding gene. Diseases associated with VPS4B include Dentin Dysplasia, Type I and Dentin Dysplasia. Among its related pathways are Budding and maturation of HIV virion and Vesicle-mediated transport. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ATPase activity. An important paralog of this gene is VPS4A.

UniProtKB/Swiss-Prot Summary for VPS4B 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). VPS4A/B are required for the exosomal release of SDCBP, CD63 and syndecan (PubMed:22660413).

Gene Wiki entry for VPS4B Gene

Additional gene information for VPS4B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for VPS4B Gene

Genomics for VPS4B Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for VPS4B 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
GH18J063420 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 255 0.0 -2 3.1 CHD2 TBP ZBTB10 SP1 MXD4 FEZF1 CEBPA SIX5 NR2C1 DEK VPS4B RF00017-2698 lnc-KDSR-3 lnc-SERPINB5-2 ZCCHC2 SERPINB5
GH18J063399 Enhancer 0.3 Ensembl ENCODE 18.3 +22.2 22152 1.1 VPS4B HSALNG0122047 ENSG00000267430 lnc-KDSR-4 lnc-KDSR-3 KDSR
GH18J063151 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 2.4 +264.3 264277 13.1 SP1 BCL11A FEZF1 MNT HES1 POLR2A CTCF BHLHE40 ZBTB7B SIN3A HSALNG0122032 BCL2 VPS4B SERPINB12 PHLPP1 HSALNG0122031 lnc-KDSR-6
GH18J063407 Enhancer 0.9 Ensembl ENCODE 4.5 +12.4 12395 4.6 FEZF1 HOMEZ SAP130 RXRA ZBTB33 JUND PRDM6 SOX5 ZFP37 HNF4A VPS4B ENSG00000267430 lnc-KDSR-4 lnc-KDSR-3 HSALNG0122047 KDSR
GH18J063235 Enhancer 1.4 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 2.8 +184.8 184809 3.7 CEBPA ZNF217 ZIC2 CEBPB MAX EP300 RXRA TEAD3 YY1 TBP BCL2 KDSR VPS4B piR-38051-139 HSALNG0122035 HSALNG0122036 HSALNG0122034 PHLPP1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around VPS4B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for VPS4B

Top Transcription factor binding sites by QIAGEN in the VPS4B gene promoter:
  • AP-1
  • ATF-2
  • c-Fos
  • c-Jun
  • p53
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • POU3F2 (N-Oct-5b)

Genomic Locations for VPS4B Gene

Latest Assembly
chr18:63,389,190-63,422,495
(GRCh38/hg38)
Size:
33,306 bases
Orientation:
Minus strand

Previous Assembly
chr18:61,056,423-61,089,709
(GRCh37/hg19 by Entrez Gene)
Size:
33,287 bases
Orientation:
Minus strand

chr18:61,056,423-61,089,716
(GRCh37/hg19 by Ensembl)
Size:
33,294 bases
Orientation:
Minus strand

Genomic View for VPS4B Gene

Genes around VPS4B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
VPS4B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for VPS4B Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for VPS4B Gene

Proteins for VPS4B Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for VPS4B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75351-VPS4B_HUMAN
    Recommended name:
    Vacuolar protein sorting-associated protein 4B
    Protein Accession:
    O75351
    Secondary Accessions:
    • Q69HW4
    • Q9GZS7

    Protein attributes for VPS4B Gene

    Size:
    444 amino acids
    Molecular mass:
    49302 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. In vitro, associates on the inside of a helical tubular structure formed by a CHMP2A-CHMP3 polymer. Interacts with CHMP1A, CHMP1B, CHMP2A, CHMP4B and CHMP6. Interacts with VPS4A; the interaction suggests a heteromeric assembly with VPS4A. Interacts with VTA1.

    Three dimensional structures from OCA and Proteopedia for VPS4B Gene

neXtProt entry for VPS4B Gene

Protein Expression for VPS4B Gene

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

Post-translational modifications for VPS4B Gene

  • Ubiquitination at Lys217
  • Modification sites at PhosphoSitePlus

Other Protein References for VPS4B Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibodies for research

  • Abcam antibodies for VPS4B
  • Boster Bio Antibodies for VPS4B

No data available for DME Specific Peptides for VPS4B Gene

Domains & Families for VPS4B Gene

Gene Families for VPS4B Gene

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

Protein Domains for VPS4B Gene

InterPro:
Blocks:
  • AAA-protein subdomain
  • MIT
ProtoNet:

Suggested Antigen Peptide Sequences for VPS4B Gene

GenScript: Design optimal peptide antigens:
  • VPS4B protein (Q6PJZ4_HUMAN)
  • Suppressor of K(+) transport growth defect 1 (VPS4B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O75351

UniProtKB/Swiss-Prot:

VPS4B_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 VPS4B: view

Function for VPS4B Gene

Products:

  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for VPS4B 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). 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 VPS4B Gene

Phenotypes From GWAS Catalog for VPS4B Gene

Gene Ontology (GO) - Molecular Function for VPS4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 11563910
GO:0005524 ATP binding IEA --
GO:0008022 protein C-terminus binding IPI 17928862
GO:0008568 microtubule-severing ATPase activity IBA 21873635
genes like me logo Genes that share ontologies with VPS4B: view
genes like me logo Genes that share phenotypes with VPS4B: view

Animal Models for VPS4B Gene

MGI Knock Outs for VPS4B:

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for VPS4B

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for VPS4B Gene

Localization for VPS4B Gene

Subcellular locations from UniProtKB/Swiss-Prot for VPS4B Gene

Prevacuolar compartment membrane. Peripheral membrane protein. Late endosome membrane. Peripheral membrane protein. Note=Membrane-associated in the prevacuolar endosomal compartment. Localized in HIV-1 particles purified from acutely infected cells.

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 VPS4B gene
Compartment Confidence
cytoskeleton 5
nucleus 5
endosome 5
cytosol 5
extracellular 4
plasma membrane 2
lysosome 2
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (2)
  • Intermediate filaments (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for VPS4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000922 spindle pole IDA 20616062
GO:0005634 nucleus IBA,IDA 16757520
GO:0005737 cytoplasm IDA 16757520
GO:0005768 endosome IDA 11563910
GO:0005813 centrosome IDA 20616062
genes like me logo Genes that share ontologies with VPS4B: view

Pathways & Interactions for VPS4B Gene

genes like me logo Genes that share pathways with VPS4B: view

Pathways by source for VPS4B Gene

1 BioSystems pathway for VPS4B Gene
2 KEGG pathways for VPS4B Gene

Gene Ontology (GO) - Biological Process for VPS4B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006813 potassium ion transport IEA --
GO:0006997 nucleus organization IMP 20616062
GO:0007032 endosome organization IEA --
GO:0007049 cell cycle IEA --
GO:0007080 mitotic metaphase plate congression IMP 20616062
genes like me logo Genes that share ontologies with VPS4B: view

No data available for SIGNOR curated interactions for VPS4B Gene

Drugs & Compounds for VPS4B Gene

Products:

  1. Drug products for research

(3) Drugs for VPS4B Gene - From: HMDB

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

(2) Additional Compounds for VPS4B Gene - From: Novoseek and 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 VPS4B: view

Transcripts for VPS4B Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for VPS4B Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 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 VPS4B

Alternative Splicing Database (ASD) splice patterns (SP) for VPS4B Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - -
SP2:
SP3:
SP4:
SP5: - -
SP6:

Relevant External Links for VPS4B Gene

GeneLoc Exon Structure for
VPS4B

Expression for VPS4B Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for VPS4B Gene

mRNA expression in normal human tissues for VPS4B Gene
mRNA expression by BioGPS for VPS4B GenemRNA expression by GTEx for VPS4B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for VPS4B Gene

This gene is overexpressed in Lymph node (12.4) and Urine (8.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for VPS4B Gene



Protein tissue co-expression partners for VPS4B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for VPS4B

SOURCE GeneReport for Unigene cluster for VPS4B Gene:

Hs.126550

mRNA Expression by UniProt/SwissProt for VPS4B Gene:

O75351-VPS4B_HUMAN
Tissue specificity: Ubiquitously expressed.

Evidence on tissue expression from TISSUES for VPS4B Gene

  • Skin(4.5)
  • Blood(4.4)
  • Liver(4.4)
  • Nervous system(3.7)
  • Kidney(2.2)
  • Lymph node(2.1)
  • Spleen(2.1)
genes like me logo Genes that share expression patterns with VPS4B: 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 VPS4B Gene

Orthologs for VPS4B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for VPS4B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia VPS4B 30 31
  • 99.62 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia VPS4B 31
  • 93 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia VPS4B 30 31
  • 91.59 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia VPS4B 30 31
  • 88.74 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Vps4b 30 17 31
  • 88.44 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Vps4b 30
  • 87.31 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia VPS4B 31
  • 82 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves VPS4B 30 31
  • 80.24 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia VPS4B 31
  • 90 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia vps4b 30
  • 77.5 (n)
Str.7085 30
Zebrafish
(Danio rerio)
 Actinopterygii vps4b 30 31
  • 75.54 (n)
 OneToOne
zgc63682 30
Fruit Fly
(Drosophila melanogaster)
 Insecta Vps4 31
  • 75 (a)
 OneToMany
BcDNA:GH02678 32
  • 74 (a)
BG:DS06874.3 32
  • 41 (a)
CG10793 32
  • 40 (a)
Worm
(Caenorhabditis elegans)
 Secernentea vps-4 30 31
  • 62.9 (n)
 OneToMany
Y34D9A.10 32
  • 53 (a)
K04D7.2a 32
  • 37 (a)
K04D7.2b 32
  • 37 (a)
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0B10846g 30
  • 60.58 (n)
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes VPS4 30 31 33
  • 59.74 (n)
 OneToMany
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AEL265W 30
  • 59.11 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons SKD1 30
  • 58.97 (n)
Alicante grape
(Vitis vinifera)
 eudicotyledons Vvi.814 30
Rice
(Oryza sativa)
 Liliopsida Os01g0141100 30
  • 61.24 (n)
Os.7385 30
Corn
(Zea mays)
 Liliopsida Zm.12751 30
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.10007 31
  • 72 (a)
 OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes vps4 30
  • 59.39 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU06942 30
  • 58.56 (n)
Sea Vase
(Ciona intestinalis)
 Ascidiacea Cin.3900 30
Species where no ortholog for VPS4B was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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)
  • 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 VPS4B Gene

ENSEMBL:
Gene Tree for VPS4B (if available)
TreeFam:
Gene Tree for VPS4B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for VPS4B: view image

Paralogs for VPS4B Gene

Paralogs for VPS4B Gene

(10) SIMAP similar genes for VPS4B Gene using alignment to 4 proteins:

  • VPS4B_HUMAN
  • K7EKZ3_HUMAN
  • K7EL71_HUMAN
  • Q6PJZ4_HUMAN
genes like me logo Genes that share paralogs with VPS4B: view

Variants for VPS4B Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for VPS4B Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs17688948 - p.Ile58Met

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for VPS4B 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 VPS4B Gene

Variant ID Type Subtype PubMed ID
nsv1066552 CNV gain 25217958

Variation tolerance for VPS4B Gene

Residual Variation Intolerance Score: 61.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.11; 22.55% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for VPS4B Gene

Human Gene Mutation Database (HGMD)
VPS4B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
VPS4B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for VPS4B Gene

Disorders for VPS4B Gene

MalaCards: The human disease database

(5) MalaCards diseases for VPS4B Gene - From: ORP, COP, and GCD

Disorder Aliases PubMed IDs
dentin dysplasia, type i
  • dtdp1
dentin dysplasia
  • dentinal dysplasia
submandibular gland cancer
  • malignant neoplasm of submaxillary gland
parotid gland cancer
  • cancer of parotid gland
submandibular gland disease
  • submandibular gland diseases
- elite association - COSMIC cancer census association via MalaCards
Search VPS4B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for VPS4B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with VPS4B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for VPS4B Gene

Publications for VPS4B 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 23
  2. Comparative sequence and expression analyses of four mammalian VPS4 genes. (PMID: 12594041) Beyer A … Köhrer K (Gene 2003) 3 4 23
  3. Syndecan-syntenin-ALIX regulates the biogenesis of exosomes. (PMID: 22660413) Baietti MF … David G (Nature cell biology 2012) 3 4
  4. Biochemical analyses of human IST1 and its function in cytokinesis. (PMID: 19129479) Bajorek M … Sundquist WI (Molecular biology of the cell 2009) 3 4
  5. Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: linkage analysis and dense SNP mapping. (PMID: 19690890) McDonough CW … Bowden DW (Human genetics 2009) 3 41

ExternalLinks

View latest publications for VPS4B gene in Mastermind

Products for VPS4B Gene

Sources for VPS4B Gene