AutismKB 2.0

Annotation Detail for PMS2


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Basic Information Top
Gene Symbol:PMS2 ( HNPCC4,PMS2CL,PMSL2 )
Gene Full Name: PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
Band: 7p22.1
Quick LinksEntrez ID:5395; OMIM: 600259; Uniprot ID:PMS2_HUMAN; ENSEMBL ID: ENSG00000122512; HGNC ID: 9122
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
181Phosphotyrosine (By similarity).
403Phosphoserine.
573Phosphothreonine.
Location(AA) Modifications Resource
403Phosphoserine.Swiss-Prot 53.0
573Phosphothreonine.Swiss-Prot 53.0
Location(AA) Modification Resource
6Phosphoserine(CK1)HMM predict
6Phosphoserine(CK2)HMM predict
6Phosphoserine(PKG)HMM predict
153MethylarginineHMM predict
155Phosphothreonine(PKC)HMM predict
155Phosphothreonine(PKA)HMM predict
181Phosphotyrosine(INSR)HMM predict
260Phosphoserine(ATM)HMM predict
335N-linkedHMM predict
337Phosphothreonine(CDC2)HMM predict
371N-linkedHMM predict
373Phosphoserine(ATM)HMM predict
436Phosphoserine(CDC2)HMM predict
439Phosphothreonine(MAPK)HMM predict
439Phosphothreonine(CDC2)HMM predict
439Phosphothreonine(CDK)HMM predict
445Phosphoserine(CDC2)HMM predict
459Phosphoserine(IKK)HMM predict
476O-linkedHMM predict
478O-linkedHMM predict
513Phosphoserine(IKK)HMM predict
517Phosphoserine(CK1)HMM predict
545Phosphoserine(IKK)HMM predict
573Phosphothreonine(MAPK)HMM predict
576Phosphothreonine(PKC)HMM predict
586Phosphoserine(CK1)HMM predict
645Phosphotyrosine(EGFR)HMM predict
730N-linkedHMM predict
735N-linkedHMM predict
762Phosphothreonine(PKC)HMM predict
775N-linkedHMM predict
793Phosphoserine(ATM)HMM predict
846GlycineHMM predict
848ProlineHMM predict
849Phosphothreonine(PKC)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000535
  • Location:chr7 5979396-6015262
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 6014851 6015787 936 57
Fos K562GSE19551 6014800 6015815 1015 45
TFAP2C MCF7GSE21234 6014783 6015780 997 19
hScc1 BcellGSE12603 6014782 6015787 1005 22
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 5990200 5990442 242 0
CTCF CD4GSE12889 6003408 6003717 309 0
CTCF CD4SISSRdata 5990200 5990442 242 0
CTCF CD4SISSRdata 6003408 6003717 309 0
CTCF G2GSE9613 5979867 5980843 976 0
CTCF G2GSE9613 5981256 5981642 386 0
CTCF G2GSE9613 5990427 5990639 212 0
CTCF G2GSE9613 5992025 5992342 317 0
CTCF G2GSE9613 6001833 6002384 551 0
CTCF G2GSE9613 6003387 6003659 272 0
FOXA1 MCF7GSE15244 5985798 5986539 741 0
FOXA1 MCF7GSE15244 6001503 6002318 815 0
H3ac HepG2E 6013556 6013988 432 0
H3ac HepG2E 6014581 6015334 753 0
Myc K562GSE19551 6003453 6003575 122 0
Oct1 HelaGSE14283 5990077 5990104 27 0
Oct1 HelaGSE14283 5992534 5992560 26 0
PHF8 HeLaGSE20725 6014457 6016020 1563 0
PHF8 Hs68plusFBSGSE20725 6014433 6015988 1555 0
RARA MCF7GSE15244 6001503 6002384 881 0
TAF HelaGSE8489 6001503 6002384 881 0
TAF HelaGSE8489 6002799 6003048 249 0
hScc1 BcellGSE12603 5979965 5980464 499 0
hScc1 BcellGSE12603 6003387 6003659 272 0
hScc1 CdLSGSE12603 6003387 6003659 272 0
hScc1 G2GSE9613 6003387 6003659 272 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


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