AutismKB 2.0

Annotation Detail for PPP6R2


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Basic Information Top
Gene Symbol:PPP6R2 ( KIAA0685,PP6R2,SAP190,SAPS2,dJ579N16.1 )
Gene Full Name: protein phosphatase 6, regulatory subunit 2
Band: 22q13.33
Quick LinksEntrez ID:9701; OMIM: 610877; Uniprot ID:PP6R2_HUMAN; ENSEMBL ID: ENSG00000100239; HGNC ID: 19253
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
289Phosphoserine.
770Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_014678
  • Location:chr22 49128625-49230379
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 49127621 49127968 347 831
CTCF CD4SISSRdata 49127621 49127968 347 831
CTCF HelaGSE12889 49127696 49127992 296 782
PHF8 HeLaGSE20725 49127755 49128965 1210 266
Rb GrowingGSE19898 49127622 49127881 259 874
Rb GrowingGSE19898 49128346 49128514 168 196
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 49185071 49185220 149 0
CTCF CD4GSE12889 49199537 49199695 158 0
CTCF CD4SISSRdata 49185071 49185220 149 0
CTCF CD4SISSRdata 49199537 49199695 158 0
CTCF HelaGSE12889 49185058 49185277 219 0
CTCF JurkatGSE12889 49199617 49199706 89 0
CTCF G2GSE9613 49184963 49185308 345 0
CTCF G2GSE9613 49190558 49191520 962 0
CTCF G2GSE9613 49221711 49222036 325 0
CTCF G2GSE9613 49225801 49226170 369 0
ER MCF7GSE19013 49181974 49182793 819 0
FOXA1 MCF7GSE15244 49182001 49183061 1060 0
FoxA1 MCF7MACSdata 49182332 49182757 425 0
H3ac HepG2E 49172652 49173069 417 0
H3ac HepG2E 49178496 49179586 1090 0
H3ac HepG2E 49190100 49191900 1800 0
KLF4 hESGSE17917 49199619 49199773 154 0
KLF4 hESGSE17917 49202295 49202448 153 0
Myc K562GSE19551 49184937 49185390 453 0
Myc hESGSE17917 49146779 49147095 316 0
Oct4 hESGSE17917 49199551 49199765 214 0
RARA MCF7GSE15244 49182043 49183313 1270 0
RARG MCF7GSE15244 49182001 49182854 853 0
USF2 HepG2E 49172652 49173069 417 0
USF2 HepG2E 49182001 49183313 1312 0
hScc1 BcellGSE12603 49184963 49185308 345 0
hScc1 BcellGSE12603 49199010 49199312 302 0
hScc1 BcellGSE12603 49199878 49200434 556 0
hScc1 BcellGSE12603 49209401 49209872 471 0
hScc1 BcellGSE12603 49222871 49223648 777 0
hScc1 BcellGSE12603 49225678 49226203 525 0
hScc1 BcellGSE12603 49229274 49229481 207 0
hScc1 CdLSGSE12603 49182001 49182136 135 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
17667 mRNA KIAA0685 chr22 49071903 49173658 350 EST chr22 49173201 49174318Sense/Antisense (SA) pairs

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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