AutismKB 2.0

Annotation Detail for ATP6V1B2


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Basic Information Top
Gene Symbol:ATP6V1B2 ( ATP6B1B2,ATP6B2,HO57,VATB,VPP3,Vma2 )
Gene Full Name: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2
Band: 8p21.3
Quick LinksEntrez ID:526; OMIM: 606939; Uniprot ID:VATB2_HUMAN; ENSEMBL ID: ENSG00000147416; HGNC ID: 854
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
404Phosphoserine (By similarity).
498Phosphoserine (By similarity).
Location(AA) Modifications Resource
498Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
41Phosphoserine(ATM)HMM predict
46Phosphothreonine(PKC)HMM predict
121Phosphothreonine(MAPK)HMM predict
133N-linkedHMM predict
251N-linkedHMM predict
256N-linkedHMM predict
326Phosphotyrosine(INSR)HMM predict
345N-linkedHMM predict
371Phosphotyrosine(INSR)HMM predict
389Phosphotyrosine(EGFR)HMM predict
445Phosphothreonine(CK2)HMM predict
470N-linkedHMM predict
495IsoleucineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001693
  • Location:chr8 20098983-20123484
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
NRSF mAbJurkat 20098553 20098995 442 210
NRSF-poly JurkatQuESTdata 20098536 20099429 893 1
Rb GrowingGSE19898 20098818 20099039 221 55
USF1 HepG2E 20098553 20098861 308 277
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 20133593 20133810 217 10217
CTCF CD4SISSRdata 20133593 20133810 217 10217
CTCF G2GSE9613 20125007 20126016 1009 2027
CTCF G2GSE9613 20133453 20134462 1009 10473
P300 T30-glioblastomaGSE21026 20123986 20124644 658 831
hScc1 BcellGSE12603 20133453 20134462 1009 10473
hScc1 CdLSGSE12603 20125525 20125957 432 2257
hScc1 CdLSGSE12603 20133453 20134307 854 10396
hScc1 G2GSE9613 20124935 20126016 1081 1991
hScc1 G2GSE9613 20133453 20134462 1009 10473
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
H3K4me3 colorectalcancer 20099298 20100856 1558 0
H3K4me3 colorectalcancer 20101111 20101354 243 0
H3ac HepG2E 20099298 20100896 1598 0
NFkBII GM12892GSE19485 20098583 20099869 1286 0
NRSF JurkatGSE13047 20098554 20099632 1078 0
NRSF-mono JurkatQuESTdata 20098559 20099802 1243 0
PHF8 293TGSE20725 20098937 20099772 835 0
PHF8 HeLaGSE20725 20098689 20099567 878 0
TAF HelaGSE8489 20099334 20101147 1813 0
TAF k562GSE8489 20099219 20101354 2135 0
USF1 HepG2E 20100112 20101073 961 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-let-7a hsa-let-7a-1 9 20144220
hsa-let-7a hsa-let-7a-2 11 20144220
hsa-let-7a hsa-let-7a-3 22 20144220
hsa-let-7a* hsa-let-7a-1 9 20144220
hsa-let-7a* hsa-let-7a-3 22 20144220
hsa-let-7b hsa-let-7b 22 20144220
hsa-let-7b* hsa-let-7b 22 20144220
hsa-let-7c hsa-let-7c 21 20144220
hsa-let-7c* hsa-let-7c 21 20144220
hsa-let-7d hsa-let-7d 9 20144220
hsa-let-7d* hsa-let-7d 9 20144220
hsa-let-7e hsa-let-7e 19 20144220
hsa-let-7e* hsa-let-7e 19 20144220
hsa-let-7f hsa-let-7f-1 9 20144220
hsa-let-7f hsa-let-7f-2 X 20144220
hsa-let-7f-1* hsa-let-7f-1 9 20144220
hsa-let-7f-2* hsa-let-7f-2 X 20144220
hsa-let-7g hsa-let-7g 3 20144220
hsa-let-7g* hsa-let-7g 3 20144220
hsa-let-7i hsa-let-7i 12 20144220
hsa-let-7i* hsa-let-7i 12 20144220
hsa-miR-1 hsa-mir-1-2 18 20144220
hsa-miR-1 hsa-mir-1-1 20 20144220
hsa-miR-124 hsa-mir-124-1 8 20144220
hsa-miR-124 hsa-mir-124-2 8 20144220
hsa-miR-124 hsa-mir-124-3 20 20144220
hsa-miR-34a hsa-mir-34a 1 20144220
hsa-miR-34a* hsa-mir-34a 1 20144220
hsa-miR-34b hsa-mir-34b 11 20144220
hsa-miR-34b* hsa-mir-34b 11 20144220
hsa-miR-34c-3p hsa-mir-34c 11 20144220
hsa-miR-34c-5p hsa-mir-34c 11 20144220
No data
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


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