AutismKB 2.0

Annotation Detail for MSH2


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Basic Information Top
Gene Symbol:MSH2 ( COCA1,FCC1,HNPCC,HNPCC1,LCFS2 )
Gene Full Name: mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
Band: 2p21-p16.3
Quick LinksEntrez ID:4436; OMIM: 609309; Uniprot ID:MSH2_HUMAN; ENSEMBL ID: ENSG00000095002; HGNC ID: 7325
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
555N6-acetyllysine.
635N6-acetyllysine.
860Phosphoserine.
Location(AA) Modifications Resource
Location(AA) Modification Resource
32Phosphothreonine(PKC)HMM predict
127N-linkedHMM predict
238Phosphotyrosine(EGFR)HMM predict
238Phosphotyrosine(Jak)HMM predict
299Phosphotyrosine(Syk)HMM predict
299Phosphotyrosine(INSR)HMM predict
538N-linkedHMM predict
566N-linkedHMM predict
570Phosphotyrosine(EGFR)HMM predict
570Phosphotyrosine(INSR)HMM predict
570Phosphotyrosine(Syk)HMM predict
678Phosphotyrosine(EGFR)HMM predict
703Phosphoserine(IKK)HMM predict
717Phosphoserine(ATM)HMM predict
863Phosphotyrosine(INSR)HMM predict
863Phosphotyrosine(Syk)HMM predict
863Phosphotyrosine(SRC)HMM predict
919N-linkedHMM predict
920N-linkedHMM predict
924N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000251
  • Location:chr2 47483766-47563863
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ETS1 JurkatGSE17954 47483293 47484100 807 70
Fos K562GSE19551 47483025 47484090 1065 209
KLF4 hESGSE17917 47483489 47483932 443 56
Rb GrowingGSE19898 47483409 47483881 472 122
p130 shRbQuiescentGSE19898 47483207 47484207 1000 60
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 47483122 47484811 1689 0
H3K4me3 colorectalcancer 47484263 47485306 1043 0
H3ac HepG2E 47484191 47485306 1115 0
Nanog ESGSE20650 47545415 47545982 567 0
Nanog hESGSE18292 47545407 47545848 441 0
Oct1 HelaGSE14283 47529653 47529681 28 0
P300 T30-glioblastomaGSE21026 47502989 47503736 747 0
PHF8 HeLaGSE20725 47483311 47484352 1041 0
Rb QuiescentGSE19898 47483439 47484299 860 0
Rb SenescentGSE19898 47483303 47484296 993 0
Rb shRbQuiescentGSE19898 47483585 47483960 375 0
Rb shRbSenescenceGSE19898 47483474 47484172 698 0
SRF HelaGSE8489 47538664 47538915 251 0
SRF k562GSE8489 47538664 47538915 251 0
Sox2 hESGSE18292 47518001 47518234 233 0
TAF HelaGSE8489 47538664 47538915 251 0
TAF HelaGSE8489 47549316 47549571 255 0
TAF k562GSE8489 47538664 47538915 251 0
p130 QuiescentGSE19898 47483527 47484337 810 0
p130 SenescentGSE19898 47483436 47484341 905 0
p130 shRbSenescentGSE19898 47483409 47484556 1147 0
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-155 hsa-mir-155 21 20351277
hsa-miR-155* hsa-mir-155 21 20351277
hsa-miR-15a hsa-mir-15a 13 18362358
hsa-miR-15a* hsa-mir-15a 13 18362358
hsa-miR-16 hsa-mir-16-1 13 18362358
hsa-miR-16 hsa-mir-16-2 3 18362358
hsa-miR-16-1* hsa-mir-16-1 13 18362358
hsa-miR-183 hsa-mir-183 7 19047896
hsa-miR-183* hsa-mir-183 7 19047896
hsa-miR-192 hsa-mir-192 11 19047896
hsa-miR-192* hsa-mir-192 11 19047896
hsa-miR-21 hsa-mir-21 17 21078976
hsa-miR-21 hsa-mir-21 17 21047769
hsa-miR-21* hsa-mir-21 17 21078976
hsa-miR-21* hsa-mir-21 17 21047769
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