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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 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]
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.
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.
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 |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Insulin receptor recycling | ||
2 | Innate Immune System |
.61
|
|
3 | PI3K / Akt Signaling | ||
4 | PI3K-Akt signaling pathway | ||
5 | Metabolism |
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 | -- |
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 |
|
Compound | Action | Cas Number |
---|---|---|
Bafilomycin A1 | H+-ATPase (vacuolar) inhibitor | 88899-55-2 |
Concanamycin A | H+-ATPase (vacuolar) inhibitor | 80890-47-7 |
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: | - |
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 |
|
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
deafness, congenital, with onychodystrophy, autosomal dominant |
|
|
zimmermann-laband syndrome 2 |
|
|
zimmermann-laband syndrome |
|
|
zimmermann-laband syndrome 1 |
|
|
deafness-onychodystrophy syndrome |
|