AutismKB 2.0

Annotation Detail for MTMR2


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Basic Information Top
Gene Symbol:MTMR2 ( CMT4B,CMT4B1,KIAA1073 )
Gene Full Name: myotubularin related protein 2
Band: 11q21
Quick LinksEntrez ID:8898; OMIM: 603557; Uniprot ID:MTMR2_HUMAN; ENSEMBL ID: ENSG00000087053; HGNC ID: 7450
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
58Phosphoserine.
Location(AA) Modifications Resource
637PhosphothreoninePhospho.ELM 6.0
Location(AA) Modification Resource
5Phosphoserine(IKK)HMM predict
9Phosphoserine(CK1)HMM predict
9Phosphoserine(IKK)HMM predict
12Phosphoserine(ATM)HMM predict
21Phosphoserine(IKK)HMM predict
24Phosphoserine(CK1)HMM predict
24O-linkedHMM predict
26O-linkedHMM predict
27O-linkedHMM predict
31Phosphoserine(IKK)HMM predict
33Phosphoserine(IKK)HMM predict
36Phosphoserine(CK1)HMM predict
41O-linkedHMM predict
43Phosphoserine(IKK)HMM predict
46O-linkedHMM predict
49O-linkedHMM predict
49Phosphoserine(CK1)HMM predict
51Phosphoserine(CK1)HMM predict
104O-linkedHMM predict
149Phosphotyrosine(SRC)HMM predict
171Phosphothreonine(PKC)HMM predict
222N-linkedHMM predict
296Phosphoserine(PKG)HMM predict
296PhosphoserineHMM predict
302Phosphotyrosine(EGFR)HMM predict
337Phosphotyrosine(INSR)HMM predict
343Phosphotyrosine(SRC)HMM predict
343Phosphotyrosine(EGFR)HMM predict
343Phosphotyrosine(INSR)HMM predict
343Phosphotyrosine(Syk)HMM predict
546Phosphoserine(ATM)HMM predict
620N-linkedHMM predict
625Phosphoserine(CK1)HMM predict
626O-linkedHMM predict
630Phosphoserine(CK1)HMM predict
631Phosphoserine(PKB)HMM predict
631Phosphoserine(IKK)HMM predict
635S-farnesylHMM predict
637O-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_016156
  • Location:chr11 95205693-95296918
  • strand:-
No data
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T30-glioblastomaGSE21026 95249840 95250829 989 0
CTCF CD4GSE12889 95208902 95209221 319 0
CTCF CD4SISSRdata 95208902 95209221 319 0
ER E2-MCF7GSE14664 95229683 95229715 32 0
ER E2-MCF7GSE14664 95275896 95275934 38 0
ER Fulvestrant-MCF7GSE14664 95243634 95243682 48 0
ER Fulvestrant-MCF7GSE14664 95275895 95275935 40 0
FOXA1 DLD1GSE12801 95205363 95206138 775 0
FOXA1 DLD1GSE12801 95265668 95266430 762 0
FOXA1 DLD1GSE12801 95276983 95277161 178 0
FOXA1 DLD1GSE12801 95290039 95290261 222 0
FOXA1 MCF7GSE15244 95290072 95290261 189 0
H3K4me3 colorectalcancer 95295988 95297767 1779 0
H3ac HepG2E 95295349 95296638 1289 0
Myc hESGSE17917 95296729 95296933 204 0
Nanog ESGSE20650 95290855 95291249 394 0
Oct1 H2O2-HelaGSE14283 95218730 95218762 32 0
Oct1 H2O2-HelaGSE14283 95222695 95222727 32 0
Oct1 H2O2-HelaGSE14283 95224756 95224790 34 0
Oct1 H2O2-HelaGSE14283 95237088 95237120 32 0
Oct1 H2O2-HelaGSE14283 95253879 95253914 35 0
Oct1 HelaGSE14283 95218730 95218762 32 0
Oct1 HelaGSE14283 95224752 95224791 39 0
Oct1 HelaGSE14283 95239567 95239597 30 0
Oct1 HelaGSE14283 95241173 95241209 36 0
Oct1 HelaGSE14283 95253869 95253916 47 0
Oct1 HelaGSE14283 95275894 95275958 64 0
Oct1 HelaGSE14283 95286385 95286422 37 0
Oct4 hESGSE17917 95208915 95209135 220 0
P300 T0-glioblastomaGSE21026 95208572 95209614 1042 0
P300 T30-glioblastomaGSE21026 95249656 95250935 1279 0
PHF8 293TGSE20725 95296154 95297394 1240 0
PHF8 HeLaGSE20725 95296334 95297385 1051 0
PHF8 Hs68plusFBSGSE20725 95296001 95297649 1648 0
RARA MCF7GSE15244 95289965 95290261 296 0
RARG MCF7GSE15244 95290107 95290261 154 0
Rb GrowingGSE19898 95208782 95209007 225 0
TAF HelaGSE8489 95295387 95296454 1067 0
hScc1 BcellGSE12603 95208834 95209269 435 0
hScc1 CdLSGSE12603 95208351 95209269 918 0
hScc1 CdLSGSE12603 95221760 95222193 433 0
hScc1 G2GSE9613 95208387 95209269 882 0
p130 SenescentGSE19898 95296766 95297050 284 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
5061 EST chr11 95207716 95208003 287 mRNA MTMR2 chr11 95205693 95296919Sense/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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