Property Summary

NCBI Gene PubMed Count 45
Grant Count 73
R01 Count 50
Funding $8,678,857.16
PubMed Score 656.54
PubTator Score 28.00

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (4)

Disease log2 FC p
malignant mesothelioma 1.100 0.000
psoriasis -3.900 0.000
nasopharyngeal carcinoma -1.100 0.000
chronic rhinosinusitis -1.249 0.029

Synonym

Accession Q9HBG4 A4D1R4 A8KA80 Q32M47 V-ATPase 116 kDa isoform a4
Symbols A4
STV1
VPH1
VPP2
RTA1C
RTADR
ATP6N2
RDRTA2
ATP6N1B

Gene

 GWAS Trait (1)

Gene RIF (16)

PMID Text
25951193 ITM2A expression is positively regulated by PKA-CREB signaling and ITM2A expression interferes with autophagic flux by interacting with vacuolar ATPase.
25910425 Functional analysis of selected regulated proteins revealed that knockdown of HNRPD, PHB2 and UB2V2 can increase HCMV replication, while knockdown of A4 and KSRP resulted in decreased HCMV replication.
25572248 e have described patients with severe distal renal tubular acidosis and a novel splicing mutation in the ATP6V0A4 gene in a family originating from the Siliana region in northwestern Tunisia
25285676 For the remaining patients, two mutations in the ATP6V0A4 gene, one of them being novel, were found in three Tunisian cases.
24975934 Two from different families carrying ATP6V0A4 mutations manifested early onset moderate mixed HL and moderate SNHL
24252324 Four mutations in the ATP6V0A4 gene were obesrved one single nucleotide deletion in exon 13, the nonsensein exon 3, and the missense changes in exon 17 and in exon 19.
24072707 The function of vacuolar ATPase (V-ATPase) a subunit isoforms in invasiveness of MCF10a and MCF10CA1a human breast cancer cells.
23729491 Mutations of the ATP6V0A4 gene is associated with primary distal renal tubular acidosis.
22854161 Case Report: novel ATP6V0A4 gene mutation confirmed autosomal recessive distal renal tubular acidosis with normal hearing.
22460948 This study demonistrated that expression identifies subtypes of oligodendrogliomas, pilocytic astrocytomas and gangliogliomas and may contribute to refine characterization of these tumors.
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AA Sequence

MVSVFRSEEMCLSQLFLQVEAAYCCVAELGELGLVQFKDLNMNVNSFQRKFVNEVRRCESLERILRFLED      1 - 70
EMQNEIVVQLLEKSPLTPLPREMITLETVLEKLEGELQEANQNQQALKQSFLELTELKYLLKKTQDFFET     71 - 140
ETNLADDFFTEDTSGLLELKAVPAYMTGKLGFIAGVINRERMASFERLLWRICRGNVYLKFSEMDAPLED    141 - 210
PVTKEEIQKNIFIIFYQGEQLRQKIKKICDGFRATVYPCPEPAVERREMLESVNVRLEDLITVITQTESH    211 - 280
RQRLLQEAAANWHSWLIKVQKMKAVYHILNMCNIDVTQQCVIAEIWFPVADATRIKRALEQGMELSGSSM    281 - 350
APIMTTVQSKTAPPTFNRTNKFTAGFQNIVDAYGVGSYREINPAPYTIITFPFLFAVMFGDCGHGTVMLL    351 - 420
AALWMILNERRLLSQKTDNEIWNTFFHGRYLILLMGIFSIYTGLIYNDCFSKSLNIFGSSWSVQPMFRNG    421 - 490
TWNTHVMEESLYLQLDPAIPGVYFGNPYPFGIDPIWNLASNKLTFLNSYKMKMSVILGIVQMVFGVILSL    491 - 560
FNHIYFRRTLNIILQFIPEMIFILCLFGYLVFMIIFKWCCFDVHVSQHAPSILIHFINMFLFNYSDSSNA    561 - 630
PLYKHQQEVQSFFVVMALISVPWMLLIKPFILRASHRKSQLQASRIQEDATENIEGDSSSPSSRSGQRTS    631 - 700
ADTHGALDDHGEEFNFGDVFVHQAIHTIEYCLGCISNTASYLRLWALSLAHAQLSEVLWTMVMNSGLQTR    701 - 770
GWGGIVGVFIIFAVFAVLTVAILLIMEGLSAFLHALRLHWVEFQNKFYVGDGYKFSPFSFKHILDGTAEE    771 - 840
//

Text Mined References (49)

PMID Year Title
25951193 2015 The integral membrane protein ITM2A, a transcriptional target of PKA-CREB, regulates autophagic flux via interaction with the vacuolar ATPase.
25910425 2015 Subcellular quantitative proteomic analysis reveals host proteins involved in human cytomegalovirus infection.
25572248 2014 A novel splice-site mutation in ATP6V0A4 gene in two brothers with distal renal tubular acidosis from a consanguineous Tunisian family.
25285676 2014 Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutations.
24975934 2014 Mutation analysis and audiologic assessment in six Chinese children with primary distal renal tubular acidosis.
24252324 2013 Molecular diagnosis of distal renal tubular acidosis in Tunisian patients: proposed algorithm for Northern Africa populations for the ATP6V1B1, ATP6V0A4 and SCL4A1 genes.
24072707 2013 The function of vacuolar ATPase (V-ATPase) a subunit isoforms in invasiveness of MCF10a and MCF10CA1a human breast cancer cells.
23729491 2013 Mutational analyses of the ATP6V1B1 and ATP6V0A4 genes in patients with primary distal renal tubular acidosis.
22854161 2014 Novel ATP6V0A4 mutation described in a Tunisian patient with distal renal tubular acidosis.
22460948 2012 The renal v-ATPase a4 subunit is expressed in specific subtypes of human gliomas.
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