AutismKB 2.0

Annotation Detail for MYL2


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Basic Information Top
Gene Symbol:MYL2 ( CMH10,DKFZp779C0562,MLC2 )
Gene Full Name: myosin, light chain 2, regulatory, cardiac, slow
Band: 12q24.11
Quick LinksEntrez ID:4633; OMIM: 160781; Uniprot ID:MLRV_HUMAN; ENSEMBL ID: ENSG00000111245; HGNC ID: 7583
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
2N,N,N-trimethylalanine (By similarity).
Location(AA) Modifications Resource
2N,N,N-trimethylalanine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
78N-linkedHMM predict
131Phosphoserine(CK1)HMM predict
152Phosphotyrosine(INSR)HMM predict
160ThreonineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000432
  • Location:chr12 109833032-109842763
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 109859208 109859663 455 16672
CTCF CD4SISSRdata 109859208 109859663 455 16672
CTCF HelaGSE12889 109859334 109859526 192 16667
CTCF G2GSE9613 109853695 109853875 180 11022
CTCF G2GSE9613 109854221 109854530 309 11612
CTCF G2GSE9613 109854934 109855124 190 12266
CTCF G2GSE9613 109858979 109859926 947 16689
FOXA1 MCF7GSE15244 109854187 109854490 303 11575
KLF4 hESGSE17917 109855720 109855879 159 13036
RARA MCF7GSE15244 109854187 109854530 343 11595
RARG MCF7GSE15244 109853945 109854530 585 11474
Rb SenescentGSE19898 109859317 109859671 354 16731
hScc1 BcellGSE12603 109853533 109853910 377 10958
hScc1 BcellGSE12603 109859093 109859695 602 16631
hScc1 CdLSGSE12603 109859054 109859658 604 16593
hScc1 G2GSE9613 109854221 109854530 309 11612
hScc1 G2GSE9613 109858979 109859658 679 16555
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 HelaGSE14283 109832215 109832249 34 801
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER Fulvestrant-MCF7GSE14664 109836504 109836539 35 0
NFkBII GM15510GSE19485 109835160 109836421 1261 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