AutismKB 2.0

Annotation Detail for ATP6V0A2


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Basic Information Top
Gene Symbol:ATP6V0A2 ( A2,ARCL,ATP6A2,ATP6N1D,J6B7,RTF,STV1,TJ6,TJ6M,TJ6S,VPH1,WSS )
Gene Full Name: ATPase, H+ transporting, lysosomal V0 subunit a2
Band: 12q24.31
Quick LinksEntrez ID:23545; OMIM: 611716; Uniprot ID:VPP2_HUMAN; ENSEMBL ID: ENSG00000185344; HGNC ID: 18481
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
177Phosphoserine.
279N6-acetyllysine.
695Phosphoserine.
700Phosphoserine.
704Phosphoserine.
Location(AA) Modifications Resource
43N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
177Phosphoserine.Swiss-Prot 53.0
177PhosphoserinePhospho.ELM 6.0
484N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
505N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
684N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
695Phosphoserine.Swiss-Prot 53.0
695PhosphoserinePhospho.ELM 6.0
700Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
23Phosphotyrosine(INSR)HMM predict
43N-linkedHMM predict
85PhosphoserineHMM predict
85O-linkedHMM predict
85Phosphoserine(IKK)HMM predict
85Phosphoserine(ATM)HMM predict
149Phosphotyrosine(EGFR)HMM predict
149Phosphotyrosine(SRC)HMM predict
159Phosphoserine(CK1)HMM predict
163Phosphotyrosine(INSR)HMM predict
210Phosphoserine(CK1)HMM predict
365Phosphothreonine(CDK)HMM predict
365Phosphothreonine(MAPK)HMM predict
365Phosphothreonine(PKA)HMM predict
440Phosphoserine(ATM)HMM predict
473Phosphoserine(CK1)HMM predict
492O-linkedHMM predict
505N-linkedHMM predict
684N-linkedHMM predict
688Phosphotyrosine(INSR)HMM predict
695PhosphoserineHMM predict
695Phosphoserine(PKG)HMM predict
700Phosphoserine(CK1)HMM predict
704Phosphoserine(ATM)HMM predict
844LeucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_012463
  • Location:chr12 122762817-122810390
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 HeLaGSE20725 122761951 122763507 1556 89
Rb QuiescentGSE19898 122762487 122762865 378 142
Rb SenescentGSE19898 122762531 122762956 425 74
Rb shRbQuiescentGSE19898 122762536 122762738 202 181
Rb shRbSenescenceGSE19898 122762425 122762754 329 228
p130 QuiescentGSE19898 122762508 122762804 296 162
p130 SenescentGSE19898 122762406 122762776 370 227
p130 shRbSenescentGSE19898 122762505 122762850 345 140
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 122812617 122812763 146 2300
hScc1 BcellGSE12603 122812165 122812984 819 2184
hScc1 CdLSGSE12603 122812201 122812984 783 2202
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF HelaGSE12889 122795466 122795665 199 0
CTCF G2GSE9613 122792424 122792709 285 0
CTCF G2GSE9613 122804789 122805044 255 0
FOXA1 MCF7GSE15244 122763427 122763807 380 0
GABP k562GSE8489 122763631 122765258 1627 0
GATA3 MCF7GSE15244 122763463 122764982 1519 0
Gata1 K562GSE18868 122770005 122770603 598 0
Gata2 K562GSE18868 122769912 122770592 680 0
H3K4me2 HCT116GSE10453 122764350 122765014 664 0
H3K4me3 colorectalcancer 122763558 122764023 465 0
H3K4me3 colorectalcancer 122764454 122764815 361 0
H3ac HepG2E 122763355 122765052 1697 0
Myc K562GSE19551 122793491 122793951 460 0
NFkBII GM10847GSE19485 122762180 122764263 2083 0
NFkBII GM12878GSE19485 122787540 122789175 1635 0
PHF8 Hs68plusFBSGSE20725 122762039 122763689 1650 0
RARA MCF7GSE15244 122763664 122764780 1116 0
hScc1 BcellGSE12603 122762598 122763664 1066 0
p130 SenescentGSE19898 122763028 122763387 359 0
p130 shRbSenescentGSE19898 122763093 122763292 199 0
Validated miRNA targets Top
Cis-Nats regulation Top

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018