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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
- HGNC: 854
- NCBI Entrez Gene: 526
- Ensembl: ENSG00000147416
- OMIM®: 606939
- UniProtKB/Swiss-Prot: P21281
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
-
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 Signaling by GPCR and Insulin receptor recycling. 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.
-
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.
Additional gene information for ATP6V1B2 Gene
- HGNC (854)
- NCBI Entrez Gene (526)
- Ensembl (ENSG00000147416)
- OMIM® (606939)
- UniProtKB/Swiss-Prot (P21281)
- Open Targets Platform(ENSG00000147416)
- Monarch Initiative
- Search for ATP6V1B2 at DataMed
- Search for ATP6V1B2 at HumanCyc
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
- 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
Latest Assembly
- chr8:20,197,375-20,226,852
- (GRCh38/hg38)
- Size:
- 29,478 bases
- Orientation:
- Plus strand
Previous Assembly
- chr8:20,054,892-20,079,207
- (GRCh37/hg19 by Entrez Gene)
- Size:
- 24,316 bases
- Orientation:
- Plus strand
- chr8:20,054,878-20,084,330
- (GRCh37/hg19 by Ensembl)
- Size:
- 29,453 bases
- Orientation:
- Plus strand
Genomic View for ATP6V1B2 Gene
Genes around ATP6V1B2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8p21.3 by HGNC
- 8p21.3 by Entrez Gene
- 8p21.3 by Ensembl
ATP6V1B2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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).
Protein Expression for ATP6V1B2 Gene
Post-translational modifications for ATP6V1B2 Gene
Other Protein References for ATP6V1B2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibodies for research
- LifeSpan BioSciences ATP6V1B2 Monoclonal Antibody (LS-B6383) and ATP6V1B2 Monoclonal Antibody (LS-B13421)
- G Biosciences Immunotag™ ATP6V1B2 Antibody
- Novus Biologicals Antibodies for ATP6V1B2
-
Abcam antibodies for ATP6V1B2
- Invitrogen Antibodies for ATP6V1B2 (AFLGC-Atp6v1b2)
-
Boster Bio Antibodies for ATP6V1B2
-
Santa Cruz Biotechnology (SCBT) Antibodies for ATP6V1B2
- Sino Biological Antibodies for ATP6V1B2
Protein products for research
- Search Origene for MassSpec and Protein Over-expression Lysates for ATP6V1B2
- Origene Custom Protein Services for ATP6V1B2
-
Abcam proteins for ATP6V1B2
Assay products for research
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- Family:
-
- Belongs to the ATPase alpha/beta chains family.
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
| 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 |
Phenotypes for ATP6V1B2 Gene
- MGI mutant phenotypes for ATP6V1B2:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for ATP6V1B2:
-
- Increased vaccinia virus (VACV) infection
- no effect
- Decreased viability
- Negative genetic interaction between PTEN-/- and PTEN+/+
- Strongly decreased CFP-tsO45G cell surface transport
- Decreased Salmonella enterica Typhimurium invasion
- Decreased Salmonella enterica Typhimurium effector injection
- Decreased Salmonella enterica Typhimurium ruffling
- Inconclusive
- Increased shRNA abundance (Z-score > 2)
- Decreased homologous recombination repair frequency
- Decreased shRNA abundance
- Decreased influenza A/WSN/33 replication
- Decreased infection with West Nile virus (WNV)
- Decreased Dengue Infection
- Increased caspase activity
- Increased cell number in G1, average or increased nuclei size in G1
- Decreased shRNA abundance (Z-score < -2)
- Decreased Salmonella-containing vacuole maturation
- Decreased Salmonella enterica Typhimurium binding
- Decreased Salmonella enterica Typhimurium membrane closure
- Decreased influenza A H1N1 (A/Hamburg/04/2009) virus numbers
- Increased epidermal growth factor (EGF) endosome number, increased epidermal growth factor (EGF) endosome elongation
- Decreased influenza A H1N1 (A/WSN/33) virus numbers
- Decreased viability in non-small-cell lung cancer (NSCLC) lineage; decreased viability in pancreas lineage
Animal Models for ATP6V1B2 Gene
Animal Models for research
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ATP6V1B2 - Starting at $85 >
- * ATP6V1B2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ATP6V1B2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP6V1B2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP6V1B2
miRNA for ATP6V1B2 Gene
- miRTarBase miRNAs that target ATP6V1B2
-
- hsa-miR-1-3p (MIRT003524)
- mmu-miR-324-3p (MIRT010889)
- mmu-let-7b-5p (MIRT012138)
- mmu-miR-19b-3p (MIRT012494)
- hsa-miR-30a-5p (MIRT028603)
- hsa-miR-16-5p (MIRT031775)
- hsa-miR-877-3p (MIRT037045)
- hsa-miR-125a-3p (MIRT038644)
- hsa-miR-503-5p (MIRT041130)
- hsa-miR-320a (MIRT044823)
- hsa-miR-196a-5p (MIRT048184)
- hsa-let-7a-5p (MIRT052366)
- hsa-miR-19a-3p (MIRT105429)
- hsa-miR-19b-3p (MIRT105430)
- hsa-miR-130a-3p (MIRT105431)
- hsa-miR-301a-3p (MIRT105432)
- hsa-miR-130b-3p (MIRT105433)
- hsa-miR-570-3p (MIRT105434)
- hsa-miR-454-3p (MIRT105436)
- hsa-miR-301b-3p (MIRT105438)
- hsa-miR-548f-5p (MIRT105439)
- hsa-miR-548g-5p (MIRT105440)
- hsa-miR-548x-5p (MIRT105441)
- hsa-miR-4295 (MIRT105442)
- hsa-miR-3666 (MIRT105443)
- hsa-miR-548aj-5p (MIRT105444)
- hsa-miR-4693-3p (MIRT105445)
- hsa-miR-548aw (MIRT105447)
- hsa-miR-4311 (MIRT244555)
- hsa-miR-4744 (MIRT244556)
- hsa-miR-4523 (MIRT396185)
- hsa-miR-544a (MIRT441144)
- hsa-miR-1468-3p (MIRT481294)
- hsa-miR-186-5p (MIRT481295)
- hsa-miR-3133 (MIRT481296)
- hsa-miR-4764-3p (MIRT531485)
- hsa-miR-323b-3p (MIRT531486)
- hsa-miR-6082 (MIRT531487)
- hsa-miR-583 (MIRT531488)
- hsa-miR-1276 (MIRT531489)
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATP6V1B2
- Browse OriGene Inhibitory RNA Products For ATP6V1B2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1B2
Clone products for research
- Applied Biological Materials (abm): Clones for ATP6V1B2 - Starting at $45 >
- * ATP6V1B2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ATP6V1B2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter 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.
| 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 |
- Vesicles (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0001726 | ruffle | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005765 | lysosomal membrane | HDA | 17897319 |
| GO:0005829 | cytosol | TAS | -- |
| GO:0005886 | plasma membrane | IEA,ISS | -- |
Pathways & Interactions for ATP6V1B2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Insulin receptor recycling | ||
| 2 | Innate Immune System |
.61
|
|
| 3 | PI3K / Akt Signaling | ||
| 4 | PI3K-Akt signaling pathway | ||
| 5 | Metabolism | ||
Pathways by source for ATP6V1B2 Gene
10 Reactome pathways for ATP6V1B2 Gene
1 Cell Signaling Technology pathway for ATP6V1B2 Gene
Interacting Proteins for ATP6V1B2 Gene
Selected Interacting proteins:
P21281-VATB2_HUMAN
ENSP00000276390
for ATP6V1B2 Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for ATP6V1B2
| 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 | -- |
No data available for SIGNOR curated interactions for ATP6V1B2 Gene
Drugs & Compounds for ATP6V1B2 Gene
| 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 | ||
| Phosphate | Experimental | Pharma | 0 |
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| ADP |
|
58-64-0 |
|
(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 |
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 :
-
- ENST00000276390 2856 nts (view in UCSC)
- ENST00000519667 670 nts (view in UCSC)
- ENST00000520830 649 nts (view in UCSC)
- ENST00000521442 738 nts (view in UCSC)
- ENST00000523478 572 nts (view in UCSC)
CRISPR products for research
- Applied Biological Materials (abm): CRISPR Clones for ATP6V1B2 - Starting at $85 >
- * ATP6V1B2 CRISPR as ready-to-use vector or virus: Non-viral | Lenti- | Adeno- | AAV- | siRNA - Browse All
- * Cas9 Nucleases, Nickases, Null Mutants, and GFP tag also available.
-
OriGene CRISPR knockouts for ATP6V1B2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP6V1B2
-
Santa Cruz Biotechnology (SCBT) CRISPR for ATP6V1B2
miRNA products for research
Inhibitory RNAs for research
- Origene shrna, sirna, and RNAi products in human, mouse, rat for ATP6V1B2
- Browse OriGene Inhibitory RNA Products For ATP6V1B2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1B2
Clone products for research
- Applied Biological Materials (abm): Clones for ATP6V1B2 - Starting at $45 >
- * ATP6V1B2 as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Retro- | Protein Vector - Browse All
- * Viral Packaging Services and High Titer Production Services also available.
- Sino Biological Human cDNA Clone for ATP6V1B2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP6V1B2
| 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 embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
-
Kidney (Urinary System)
- Intercalated Cells Renal Collecting Duct System
-
Epithelial Cells
- Intercalated Cells Renal Collecting Duct System
- Eye (Sensory Organs)
-
Placenta (Extraembryonic Tissues)
-
Spleen (Hematopoietic System)
-
Lung (Respiratory System)
-
Testis (Reproductive System)
-
Adrenal Gland (Endocrine System)
mRNA differential expression in normal tissues according to GTEx for ATP6V1B2 Gene
This gene is overexpressed in Whole Blood (x5.7).
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ATP6V1B2
SOURCE GeneReport for Unigene cluster for ATP6V1B2 Gene:
Hs.295917Evidence on tissue expression from TISSUES for ATP6V1B2 Gene
- Nervous system(5)
- Kidney(4.6)
- Eye(4.6)
- Skin(3.4)
- Pancreas(2.9)
- Blood(2.7)
- Spleen(2.3)
- Lung(2.3)
- Liver(2.3)
- Heart(2.1)
- Muscle(2.1)
- Intestine(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
Primer products for research
-
OriGene qPCR primer pairs for ATP6V1B2
-
OriGene qPCR primer pairs and template standards for ATP6V1B2
Gene Expression Assays for research
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | ATP6V1B2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | ATP6V1B2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | ATP6V1B2 30 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Atp6v1b2 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | ATP6V1B2 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Atp6v1b2 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| Chicken (Gallus gallus) |
Aves | VATB 31 |
|
OneToOne | |
| ATP6V1B2 30 |
|
||||
| Lizard (Anolis carolinensis) |
Reptilia | ATP6V1B2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | atp6v1b2 30 |
|
||
| Str.10560 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | vha55-prov 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | atp6v1ba 31 |
|
OneToMany | |
| atp6v1b2 30 31 |
|
OneToMany | |||
| atp6v1bb 30 |
|
||||
| Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.11905 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | Vha55 30 31 32 |
|
OneToMany | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP002884 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | vha-12 31 32 |
|
ManyToMany | |
| Y110A7A.12 32 |
|
|
|||
| spe-5 30 31 |
|
ManyToMany | |||
| A. gosspyii yeast (Eremothecium gossypii) |
Saccharomycetes | AGOS_ADL380W 30 |
|
||
| K. Lactis Yeast (Kluyveromyces lactis) |
Saccharomycetes | KLLA0D09152g 30 |
|
||
| Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | VMA2 30 31 33 |
|
OneToMany | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G20260 30 |
|
||
| Alicante grape (Vitis vinifera) |
eudicotyledons | Vvi.7007 30 |
|
||
| Soybean (Glycine max) |
eudicotyledons | Gma.16738 30 |
|
||
| Rice (Oryza sativa) |
Liliopsida | Os06g0568200 30 |
|
||
| Os.1592 30 |
|
||||
| Corn (Zea mays) |
Liliopsida | Zm.6859 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToMany | |
| Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | vma2 30 |
|
||
| Bread mold (Neurospora crassa) |
Ascomycetes | NCU08515 30 |
|
||
| 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
(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
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 |
|---|---|---|---|---|---|
| 916067 | Uncertain Significance: not provided | 20,210,361(+) |
T/G NM_001693.4(ATP6V1B2):c.307T>G (p.Ser103Ala) |
MISSENSE | |
| 916493 | Uncertain Significance: not provided | 20,211,277(+) |
A/C NM_001693.4(ATP6V1B2):c.564A>C (p.Lys188Asn) |
MISSENSE | |
| 930988 | Uncertain Significance: Zimmermann-Laband syndrome 2 | 20,220,303(+) |
T/G NM_001693.4(ATP6V1B2):c.1437T>G (p.Ile479Met) |
MISSENSE | |
| rs1057517879 | Likely Pathogenic: not provided | 20,218,200(+) |
CGTT/C NM_001693.4(ATP6V1B2):c.1316_1318del (p.Val439del) |
INFRAME_DELETION | |
| rs112063532 | Benign: not provided | 20,204,546(+) |
C/G NM_001693.4(ATP6V1B2):c.192+7C>G |
INTRON |
All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).
| 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 |
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
SNP Genotyping and Copy Number Assays for research
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ATP6V1B2 Gene
Disorders for ATP6V1B2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| deafness, congenital, with onychodystrophy, autosomal dominant |
|
|
| zimmermann-laband syndrome 2 |
|
|
| zimmermann-laband syndrome |
|
|
| zimmermann-laband syndrome 1 |
|
|
| deafness-onychodystrophy syndrome |
|
Search ATP6V1B2 in MalaCards
View complete list of genes associated with diseases
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 variants 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 variants affecting the gene represented in this entry.
Additional Disease Information for ATP6V1B2
- 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
No data available for Genatlas for ATP6V1B2 Gene
Publications for ATP6V1B2 Gene
- Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome. (PMID: 25915598) Kortüm F … Kutsche K (Nature genetics 2015) 3 4 74
- 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 74
- 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
- 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
- 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
ExternalLinks
Products for ATP6V1B2 Gene
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- Novus Biologicals proteins and lysates for ATP6V1B2
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- VectorBuilder Viral vectors for ATP6V1B2 (ie. lentivirus, AAV, adenovirus)
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- antibodies-online: Show 11 available ATP6V1B2 Antibodies ranked by validation data
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- antibodies-online: Show 4 available ATP6V1B2 Proteins ranked by validation data
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- Santa Cruz Biotechnology (SCBT) Antibodies for ATP6V1B2
- Search Santa Cruz Biotechnology (SCBT) for ATP6V1B2 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for ATP6V1B2
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for ATP6V1B2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for ATP6V1B2
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- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ATP6V1B2
- Boster Bio Antibodies for ATP6V1B2
- Browse Boster Bio ELISA Kits
Sources for ATP6V1B2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM® (Updated: 05-Mar-2021)
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) MedlinePlus Genetics
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
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- (128) SNPedia
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- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNAcentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Open Targets Platform
- (175) 5SRRNADB
- (176) snoDB
- (177) MirGeneDB