This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed... See more...

Aliases for ATP6V1B2 Gene

Aliases for ATP6V1B2 Gene

  • ATPase H+ Transporting V1 Subunit B2 2 3 5
  • HO57 2 3 4
  • ATPase, H+ Transporting, Lysosomal 56/58kDa, V1 Subunit B2 2 3
  • V-Type Proton ATPase Subunit B, Brain Isoform 3 4
  • Endomembrane Proton Pump 58 KDa Subunit 3 4
  • Vacuolar Proton Pump Subunit B 2 3 4
  • V-ATPase Subunit B 2 3 4
  • ATP6B2 3 4
  • VATB 2 3
  • VPP3 3 4
  • Vma2 2 3
  • ATPase, H+ Transporting, Lysosomal (Vacuolar Proton Pump), Beta Polypeptide, 56/58kD, Isoform 2 2
  • ATPase, H+ Transporting, Lysosomal 56/58kDa, V1 Subunit B, Isoform 2 2
  • Testicular Secretory Protein Li 65 3
  • H+ Transporting Two-Sector ATPase 3
  • Vacuolar H+-ATPase 56,000 Subunit 3
  • V-ATPase B2 Subunit 3
  • ATP6B1B2 3
  • ATP6V1B2 5
  • DOOD 3
  • ZLS2 3

External Ids for ATP6V1B2 Gene

Previous HGNC Symbols for ATP6V1B2 Gene

  • VPP3
  • ATP6B2

Previous GeneCards Identifiers for ATP6V1B2 Gene

  • GC08M019917
  • GC08P020117
  • GC08P019864
  • GC08P020064
  • GC08P020098
  • GC08P020054
  • GC08P018594

Summaries for ATP6V1B2 Gene

Entrez Gene Summary for ATP6V1B2 Gene

  • This gene encodes a component of vacuolar ATPase (V-ATPase), a multisubunit enzyme that mediates acidification of eukaryotic intracellular organelles. V-ATPase dependent organelle acidification is necessary for such intracellular processes as protein sorting, zymogen activation, receptor-mediated endocytosis, and synaptic vesicle proton gradient generation. V-ATPase is composed of a cytosolic V1 domain and a transmembrane V0 domain. The V1 domain consists of three A, three B, and two G subunits, as well as a C, D, E, F, and H subunit. The V1 domain contains the ATP catalytic site. The protein encoded by this gene is one of two V1 domain B subunit isoforms and is the only B isoform highly expressed in osteoclasts. [provided by RefSeq, Jul 2008]

GeneCards Summary for ATP6V1B2 Gene

ATP6V1B2 (ATPase H+ Transporting V1 Subunit B2) is a Protein Coding gene. Diseases associated with ATP6V1B2 include Deafness, Congenital, With Onychodystrophy, Autosomal Dominant and Zimmermann-Laband Syndrome 2. Among its related pathways are Synaptic vesicle cycle and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include proton transmembrane transporter activity. An important paralog of this gene is ATP6V1B1.

UniProtKB/Swiss-Prot Summary for ATP6V1B2 Gene

  • Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

Tocris Summary for ATP6V1B2 Gene

  • H+-ATPase (also known as vacuolar ATPase, V-ATPase) is a enzyme transporter that functions to acidify intracellular compartments in eukaryotic cells. It is ubiquitously expressed and is present in endomembrane organelles such as vacuoles, lysosomes and endosomes.

Gene Wiki entry for ATP6V1B2 Gene

Additional gene information for ATP6V1B2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ATP6V1B2 Gene

Genomics for ATP6V1B2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ATP6V1B2 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
GH08J020196 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 639.2 +3.4 3356 8.7 CEBPG GATAD2A REST TFE3 ZNF512 LEF1 IKZF1 ZNF692 POLR2A ZNF7 ATP6V1B2 INTS10 RNU6-892P HSALNG0063796 RF00026-1058 LZTS1
GH08J020188 Enhancer 1.1 FANTOM5 ENCODE dbSUPER 27.6 -8.0 -8024 0.3 ZNF766 NFE2 MAFG CEBPG SPI1 NR2F6 CEBPB IKZF1 SMARCE1 MYC ATP6V1B2 lnc-ATP6V1B2-11 piR-42799-018 SLC18A1
GH08J020186 Enhancer 0.9 FANTOM5 ENCODE dbSUPER 18.1 -10.3 -10291 1.5 GABPA SOX13 CEBPB SAP130 SPI1 RCOR1 FOSL2 JUN ETV4 SOX5 lnc-ATP6V1B2-11 ATP6V1B2 SLC18A1
GH08J019704 Enhancer 0.9 FANTOM5 Ensembl ENCODE 17.9 -488.2 -488175 10.8 CEBPB MAX NR2F2 TRIM28 TBX21 MTA2 EGR1 SPI1 CSGALNACT1 ATP6V1B2 INTS10 SH2D4A RF00017-6868 lnc-SLC18A1-3
GH08J020085 Promoter/Enhancer 1.2 FANTOM5 Ensembl ENCODE 13 -110.5 -110525 2 CTCF GABPA CEBPA CEBPB CHD2 NR2C2 NR2F2 EP300 NR2F1 STAT3 ATP6V1B2 CSGALNACT1 ENSG00000253775 LOC105379311 lnc-ATP6V1B2-2 LOC105379310 SLC18A1 LPL
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ATP6V1B2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ATP6V1B2

Top Transcription factor binding sites by QIAGEN in the ATP6V1B2 gene promoter:
  • AML1a
  • C/EBPalpha
  • Evi-1
  • NRSF form 1
  • NRSF form 2
  • Pax-4a
  • Sox5
  • YY1

Genomic Locations for ATP6V1B2 Gene

Genomic Locations for ATP6V1B2 Gene
chr8:20,197,375-20,226,852
(GRCh38/hg38)
Size:
29,478 bases
Orientation:
Plus strand
chr8:20,054,704-20,084,330
(GRCh37/hg19)
Size:
29,627 bases
Orientation:
Plus strand

Genomic View for ATP6V1B2 Gene

Genes around ATP6V1B2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ATP6V1B2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ATP6V1B2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ATP6V1B2 Gene

Proteins for ATP6V1B2 Gene

  • Protein details for ATP6V1B2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P21281-VATB2_HUMAN
    Recommended name:
    V-type proton ATPase subunit B, brain isoform
    Protein Accession:
    P21281
    Secondary Accessions:
    • B2R5Z3
    • D3DSQ5
    • Q14544
    • Q15859
    • Q96IR0

    Protein attributes for ATP6V1B2 Gene

    Size:
    511 amino acids
    Molecular mass:
    56501 Da
    Quaternary structure:
    • V-ATPase is a heteromultimeric enzyme composed of a peripheral catalytic V1 complex (main components: subunits A, B, C, D, E, and F) attached to an integral membrane V0 proton pore complex (main component: the proteolipid protein).

neXtProt entry for ATP6V1B2 Gene

Post-translational modifications for ATP6V1B2 Gene

  • Ubiquitination at Lys64 and Lys109
  • Modification sites at PhosphoSitePlus

Other Protein References for ATP6V1B2 Gene

No data available for DME Specific Peptides for ATP6V1B2 Gene

Domains & Families for ATP6V1B2 Gene

Gene Families for ATP6V1B2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for ATP6V1B2 Gene

InterPro:
Blocks:
  • H+-transporting two-sector ATPase, alpha/beta subunit, central region
ProtoNet:

Suggested Antigen Peptide Sequences for ATP6V1B2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51779, highly similar to Vacuolar ATP synthase subunit B, brain isoform (EC 3.6.3.14) (B4DFM5_HUMAN)
  • cDNA FLJ53854, highly similar to Vacuolar ATP synthase subunit B, brain isoform (EC 3.6.3.14) (B4DQI9_HUMAN)
  • Vacuolar proton pump subunit B 2 (VATB2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P21281

UniProtKB/Swiss-Prot:

VATB2_HUMAN :
  • Belongs to the ATPase alpha/beta chains family.
Family:
  • Belongs to the ATPase alpha/beta chains family.
genes like me logo Genes that share domains with ATP6V1B2: view

Function for ATP6V1B2 Gene

Molecular function for ATP6V1B2 Gene

UniProtKB/Swiss-Prot Function:
Non-catalytic subunit of the peripheral V1 complex of vacuolar ATPase. V-ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells.

Phenotypes From GWAS Catalog for ATP6V1B2 Gene

Gene Ontology (GO) - Molecular Function for ATP6V1B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 25416956
GO:0005524 ATP binding IEA --
GO:0015078 proton transmembrane transporter activity TAS 2145275
GO:0016787 hydrolase activity IEA --
GO:0046961 proton-transporting ATPase activity, rotational mechanism TAS 2145275
genes like me logo Genes that share ontologies with ATP6V1B2: view

Phenotypes for ATP6V1B2 Gene

MGI mutant phenotypes for ATP6V1B2:
inferred from 2 alleles
GenomeRNAi human phenotypes for ATP6V1B2:
genes like me logo Genes that share phenotypes with ATP6V1B2: view

Human Phenotype Ontology for ATP6V1B2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ATP6V1B2 Gene

MGI Knock Outs for ATP6V1B2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1B2

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ATP6V1B2 Gene

Localization for ATP6V1B2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ATP6V1B2 Gene

Endomembrane system. Peripheral membrane protein. Melanosome. Note=Endomembrane. Identified by mass spectrometry in melanosome fractions from stage I to stage IV.

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 ATP6V1B2 gene
Compartment Confidence
plasma membrane 4
extracellular 4
cytosol 4
lysosome 4
mitochondrion 3
nucleus 2
endosome 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ATP6V1B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0005623 cell IEA --
GO:0005737 cytoplasm IEA --
GO:0005765 lysosomal membrane HDA 17897319
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with ATP6V1B2: view

Pathways & Interactions for ATP6V1B2 Gene

genes like me logo Genes that share pathways with ATP6V1B2: view

Gene Ontology (GO) - Biological Process for ATP6V1B2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0008286 insulin receptor signaling pathway TAS --
GO:0016241 regulation of macroautophagy NAS 22982048
GO:0033572 transferrin transport TAS --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with ATP6V1B2: view

No data available for SIGNOR curated interactions for ATP6V1B2 Gene

Drugs & Compounds for ATP6V1B2 Gene

(7) Drugs for ATP6V1B2 Gene - From: DrugBank, HMDB, and Tocris

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Gallium nitrate Approved, Investigational Pharma Target, inhibitor 7
tiludronate Approved, Investigational, Vet_approved Pharma Target, inhibitor 2
Water Approved Pharma 0
4-(2-Aminoethyl)Benzenesulfonyl Fluoride Experimental Pharma Target 0
Bafilomycin A1 Experimental Pharma V-ATPase inhibitor,selective and reversible, H+-ATPase (vacuolar) inhibitor 0

(2) Additional Compounds for ATP6V1B2 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
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2

(2) Tocris Compounds for ATP6V1B2 Gene

Compound Action Cas Number
Bafilomycin A1 H+-ATPase (vacuolar) inhibitor 88899-55-2
Concanamycin A H+-ATPase (vacuolar) inhibitor 80890-47-7
genes like me logo Genes that share compounds with ATP6V1B2: view

Transcripts for ATP6V1B2 Gene

mRNA/cDNA for ATP6V1B2 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1B2

Alternative Splicing Database (ASD) splice patterns (SP) for ATP6V1B2 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15
SP1: - -
SP2: - -
SP3: -
SP4:
SP5: -

Relevant External Links for ATP6V1B2 Gene

GeneLoc Exon Structure for
ATP6V1B2

Expression for ATP6V1B2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ATP6V1B2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ATP6V1B2 Gene

This gene is overexpressed in Whole Blood (x5.7).

Protein differential expression in normal tissues from HIPED for ATP6V1B2 Gene

This gene is overexpressed in Brain (8.1), Retina (7.6), and Frontal cortex (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ATP6V1B2 Gene



Protein tissue co-expression partners for ATP6V1B2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP6V1B2

SOURCE GeneReport for Unigene cluster for ATP6V1B2 Gene:

Hs.295917

Evidence on tissue expression from TISSUES for ATP6V1B2 Gene

  • Nervous system(5)
  • Kidney(4.6)
  • Eye(4.6)
  • Skin(3.4)
  • Pancreas(2.9)
  • Blood(2.9)
  • Spleen(2.4)
  • Lung(2.4)
  • Liver(2.4)
  • Heart(2.2)
  • Muscle(2.2)
  • Intestine(2.2)
  • Lymph node(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ATP6V1B2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tongue
  • tooth
Thorax:
  • aorta
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • liver
  • spleen
Pelvis:
  • pelvis
  • penis
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with ATP6V1B2: view

No data available for mRNA Expression by UniProt/SwissProt for ATP6V1B2 Gene

Orthologs for ATP6V1B2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ATP6V1B2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ATP6V1B2 30 31
  • 99.67 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ATP6V1B2 30 31
  • 93.35 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ATP6V1B2 30 31
  • 92.3 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Atp6v1b2 30
  • 90.22 (n)
Oppossum
(Monodelphis domestica)
Mammalia ATP6V1B2 31
  • 90 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Atp6v1b2 30 17 31
  • 89.43 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 86 (a)
OneToMany
-- 31
  • 20 (a)
OneToMany
Chicken
(Gallus gallus)
Aves VATB 31
  • 94 (a)
OneToOne
ATP6V1B2 30
  • 83.67 (n)
Lizard
(Anolis carolinensis)
Reptilia ATP6V1B2 31
  • 94 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia atp6v1b2 30
  • 78.64 (n)
Str.10560 30
African clawed frog
(Xenopus laevis)
Amphibia vha55-prov 30
Zebrafish
(Danio rerio)
Actinopterygii atp6v1ba 31
  • 91 (a)
OneToMany
atp6v1b2 30 31
  • 78.02 (n)
OneToMany
atp6v1bb 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.11905 30
Fruit Fly
(Drosophila melanogaster)
Insecta Vha55 30 31 32
  • 72.92 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002884 30
  • 72.15 (n)
Worm
(Caenorhabditis elegans)
Secernentea vha-12 31 32
  • 84 (a)
ManyToMany
Y110A7A.12 32
  • 77 (a)
spe-5 30 31
  • 68.81 (n)
ManyToMany
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_ADL380W 30
  • 69.31 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0D09152g 30
  • 68.29 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VMA2 30 31 33
  • 67.79 (n)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT1G20260 30
  • 71.25 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7007 30
Soybean
(Glycine max)
eudicotyledons Gma.16738 30
Rice
(Oryza sativa)
Liliopsida Os06g0568200 30
  • 69.47 (n)
Os.1592 30
Corn
(Zea mays)
Liliopsida Zm.6859 30
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 77 (a)
OneToMany
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes vma2 30
  • 68.82 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU08515 30
  • 65.54 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.14131 30
Species where no ortholog for ATP6V1B2 was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ATP6V1B2 Gene

ENSEMBL:
Gene Tree for ATP6V1B2 (if available)
TreeFam:
Gene Tree for ATP6V1B2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ATP6V1B2: view image

Paralogs for ATP6V1B2 Gene

Paralogs for ATP6V1B2 Gene

(2) SIMAP similar genes for ATP6V1B2 Gene using alignment to 5 proteins:

  • VATB2_HUMAN
  • E5RGH6_HUMAN
  • H0YAT8_HUMAN
  • H0YC04_HUMAN
  • H0YC45_HUMAN

Pseudogenes.org Pseudogenes for ATP6V1B2 Gene

genes like me logo Genes that share paralogs with ATP6V1B2: view

Variants for ATP6V1B2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ATP6V1B2 Gene

SNP ID Clinical significance and condition Chr 08 pos Variation AA Info Type
634920 Pathogenic: Zimmermann-Laband syndrome with epileptic encephalopathy; Zimmermann-Laband syndrome 2 20,220,331(+) A/T NONSENSE
645383 Uncertain Significance: not provided 20,216,461(+) A/G MISSENSE_VARIANT
726533 Benign: not provided 20,217,252(+) A/G SYNONYMOUS_VARIANT
726989 Likely Benign: not provided 20,210,372(+) T/C SYNONYMOUS_VARIANT
727726 Benign: not provided 20,214,931(+) G/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for ATP6V1B2 Gene

Structural Variations from Database of Genomic Variants (DGV) for ATP6V1B2 Gene

Variant ID Type Subtype PubMed ID
esv2658730 CNV deletion 23128226
esv3616563 CNV loss 21293372
nsv1033511 CNV gain 25217958
nsv522185 CNV gain 19592680
nsv6107 CNV deletion 18451855
nsv610759 CNV gain 21841781

Variation tolerance for ATP6V1B2 Gene

Residual Variation Intolerance Score: 18.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.44; 43.02% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ATP6V1B2 Gene

Human Gene Mutation Database (HGMD)
ATP6V1B2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ATP6V1B2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V1B2 Gene

Disorders for ATP6V1B2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for ATP6V1B2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

VATB2_HUMAN
  • Zimmermann-Laband syndrome 2 (ZLS2) [MIM:616455]: A form of Zimmermann-Laband syndrome, a rare developmental disorder characterized by facial dysmorphism with bulbous nose and thick floppy ears, gingival enlargement, hypoplasia or aplasia of terminal phalanges and nails, hypertrichosis, joint hyperextensibility, and hepatosplenomegaly. Some patients manifest intellectual disability with or without epilepsy. ZLS2 inheritance is autosomal dominant. {ECO:0000269 PubMed:25915598}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Deafness, congenital, with onychodystrophy, autosomal dominant (DDOD) [MIM:124480]: An autosomal dominant syndrome characterized mainly by congenital sensorineural hearing loss accompanied by dystrophic or absent nails. Coniform teeth, selective tooth agenesis, and hands and feet abnormalities are present in some patients. {ECO:0000269 PubMed:24913193}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ATP6V1B2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ATP6V1B2: view

No data available for Genatlas for ATP6V1B2 Gene

Publications for ATP6V1B2 Gene

  1. An mRNA from human brain encodes an isoform of the B subunit of the vacuolar H(+)-ATPase. (PMID: 2145275) Bernasconi P … Taiz L (The Journal of biological chemistry 1990) 2 3 4
  2. Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. (PMID: 25915598) Kortüm F … Kutsche K (Nature genetics 2015) 3 4
  3. De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome. (PMID: 24913193) Yuan Y … Dai P (Cell research 2014) 3 4
  4. Novel loci for major depression identified by genome-wide association study of Sequenced Treatment Alternatives to Relieve Depression and meta-analysis of three studies. (PMID: 20038947) Shyn SI … Hamilton SP (Molecular psychiatry 2011) 3 41
  5. 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 41

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