Identity
HGNC
LOCATION
8p21.3
LOCUSID
ALIAS
ATP6B1B2,ATP6B2,DOOD,HO57,VATB,VPP3,Vma2,ZLS2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 526
MIM: 606939
HGNC: 854
Ensembl: ENSG00000147416
Variants:
dbSNP: 526
ClinVar: 526
TCGA: ENSG00000147416
COSMIC: ATP6V1B2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32873933 | 2021 | DOORS syndrome and a recurrent truncating ATP6V1B2 variant. | 3 |
| 32873933 | 2021 | DOORS syndrome and a recurrent truncating ATP6V1B2 variant. | 3 |
| 31655144 | 2020 | EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. | 5 |
| 31655144 | 2020 | EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities. | 5 |
| 30720463 | 2019 | Follicular lymphoma-associated mutations in vacuolar ATPase ATP6V1B2 activate autophagic flux and mTOR. | 18 |
| 30821427 | 2019 | Presence of serum autoantibodies to vacuolar H(+) -ATPase in patients with renal tubular acidosis. | 2 |
| 31257146 | 2019 | A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability. | 13 |
| 30720463 | 2019 | Follicular lymphoma-associated mutations in vacuolar ATPase ATP6V1B2 activate autophagic flux and mTOR. | 18 |
| 30821427 | 2019 | Presence of serum autoantibodies to vacuolar H(+) -ATPase in patients with renal tubular acidosis. | 2 |
| 31257146 | 2019 | A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability. | 13 |
| 29310826 | 2018 | Changes in V-ATPase subunits of human urinary exosomes reflect the renal response to acute acid/alkali loading and the defects in distal renal tubular acidosis. | 0 |
| 29310826 | 2018 | Changes in V-ATPase subunits of human urinary exosomes reflect the renal response to acute acid/alkali loading and the defects in distal renal tubular acidosis. | 0 |
| 27824360 | 2016 | Association of ATP6V1B2 rs1106634 with lifetime risk of depression and hippocampal neurocognitive deficits: possible novel mechanisms in the etiopathology of depression. | 0 |
| 27824360 | 2016 | Association of ATP6V1B2 rs1106634 with lifetime risk of depression and hippocampal neurocognitive deficits: possible novel mechanisms in the etiopathology of depression. | 0 |
| 25713363 | 2015 | Mutations in early follicular lymphoma progenitors are associated with suppressed antigen presentation. | 174 |
Citation
Dessen P
ATP6V1B2 (ATPase H+ transporting V1 subunit B2)
Atlas Genet Cytogenet Oncol Haematol. 2017-10-01
Online version: http://atlasgeneticsoncology.org/gene/57086/atp6v1b2-(atpase-h+-transporting-v1-subunit-b2)
