AutismKB 2.0

Annotation Detail for MLL2


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Basic Information Top
Gene Symbol:MLL2 ( AAD10,ALR,CAGL114,KMT2B,KMT2D,MLL4,TNRC21 )
Gene Full Name: myeloid/lymphoid or mixed-lineage leukemia 2
Band: 12q12-q14
Quick LinksEntrez ID:8085; OMIM: 602113; Uniprot ID:MLL2_HUMAN; ENSEMBL ID: ENSG00000167548; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
1671Phosphoserine.
1820Phosphoserine.
1865Phosphothreonine.
2155Phosphoserine.
2246N6-acetyllysine.
2274Phosphoserine.
2296Phosphoserine.
2309Phosphoserine.
2311Phosphoserine.
2323Phosphothreonine.
2468N6-acetyllysine.
2690LXXLL motif 1.
3042LXXLL motif 2.
3130Phosphoserine.
3155N6-acetyllysine.
3197Phosphothreonine.
3199Phosphoserine.
3433N6-acetyllysine.
4215Phosphoserine.
4236LXXLL motif 3.
4257LXXLL motif 4.
4465N6-acetyllysine.
4467LXXLL motif 5.
4516N6-acetyllysine.
4738Phosphoserine.
4776N6-acetyllysine.
4822Phosphoserine.
4994LXXLL motif 6.
5276N6-acetyllysine.
Location(AA) Modifications Resource
2855Phosphoserine.Swiss-Prot 53.0
2855PhosphoserinePhospho.ELM 6.0
4463Phosphoserine.Swiss-Prot 53.0
4463PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
13Phosphoserine(ATM)HMM predict
23O-linkedHMM predict
27Phosphoserine(CK1)HMM predict
27Phosphoserine(IKK)HMM predict
98O-linkedHMM predict
102O-linkedHMM predict
102Phosphoserine(CDC2)HMM predict
116Phosphoserine(ATM)HMM predict
125Phosphothreonine(MAPK)HMM predict
189S-palmitoylHMM predict
199O-linkedHMM predict
203O-linkedHMM predict
203Phosphoserine(IKK)HMM predict
247S-palmitoylHMM predict
281MethyllysineHMM predict
284N-linkedHMM predict
342N-linkedHMM predict
349S-palmitoylHMM predict
357Phosphothreonine(PKC)HMM predict
380Phosphothreonine(MAPK)HMM predict
450O-linkedHMM predict
450Phosphoserine(CDC2)HMM predict
450Phosphoserine(MAPK)HMM predict
450Phosphoserine(ATM)HMM predict
458O-linkedHMM predict
459O-linkedHMM predict
459Phosphoserine(CDC2)HMM predict
459Phosphoserine(MAPK)HMM predict
459Phosphoserine(ATM)HMM predict
459Phosphoserine(IKK)HMM predict
465O-linkedHMM predict
468Phosphoserine(MAPK)HMM predict
477Phosphoserine(CDC2)HMM predict
477Phosphoserine(MAPK)HMM predict
492Phosphoserine(CDK)HMM predict
492Phosphoserine(IKK)HMM predict
495Phosphoserine(CDC2)HMM predict
495Phosphoserine(MAPK)HMM predict
495Phosphoserine(ATM)HMM predict
504O-linkedHMM predict
504Phosphoserine(CDC2)HMM predict
504Phosphoserine(MAPK)HMM predict
504Phosphoserine(ATM)HMM predict
513Phosphoserine(CDC2)HMM predict
513Phosphoserine(MAPK)HMM predict
518Phosphoserine(CDK)HMM predict
518Phosphoserine(IKK)HMM predict
521Phosphoserine(CDC2)HMM predict
521Phosphoserine(MAPK)HMM predict
521Phosphoserine(ATM)HMM predict
529O-linkedHMM predict
529Phosphoserine(CDC2)HMM predict
529Phosphoserine(MAPK)HMM predict
529PhosphoserineHMM predict
534Phosphothreonine(MAPK)HMM predict
534Phosphothreonine(CDK)HMM predict
537O-linkedHMM predict
537Phosphoserine(CDC2)HMM predict
537Phosphoserine(MAPK)HMM predict
537Phosphoserine(ATM)HMM predict
537PhosphoserineHMM predict
543O-linkedHMM predict
543Phosphoserine(CDC2)HMM predict
546Phosphoserine(MAPK)HMM predict
552Phosphoserine(CDK)HMM predict
555Phosphoserine(CDC2)HMM predict
555Phosphoserine(MAPK)HMM predict
555Phosphoserine(ATM)HMM predict
563O-linkedHMM predict
564O-linkedHMM predict
564Phosphoserine(CDC2)HMM predict
564Phosphoserine(MAPK)HMM predict
564Phosphoserine(ATM)HMM predict
570O-linkedHMM predict
573O-linkedHMM predict
573Phosphoserine(MAPK)HMM predict
582O-linkedHMM predict
582Phosphoserine(MAPK)HMM predict
582Phosphoserine(ATM)HMM predict
582Phosphoserine(IKK)HMM predict
591O-linkedHMM predict
591Phosphoserine(MAPK)HMM predict
591Phosphoserine(ATM)HMM predict
591Phosphoserine(IKK)HMM predict
606Phosphoserine(CDK)HMM predict
609O-linkedHMM predict
609Phosphoserine(CDC2)HMM predict
609Phosphoserine(MAPK)HMM predict
609Phosphoserine(ATM)HMM predict
618O-linkedHMM predict
618Phosphoserine(CDC2)HMM predict
618Phosphoserine(MAPK)HMM predict
618Phosphoserine(ATM)HMM predict
624O-linkedHMM predict
627O-linkedHMM predict
627Phosphoserine(MAPK)HMM predict
636O-linkedHMM predict
636Phosphoserine(MAPK)HMM predict
645O-linkedHMM predict
645Phosphoserine(MAPK)HMM predict
645Phosphoserine(ATM)HMM predict
645Phosphoserine(IKK)HMM predict
654O-linkedHMM predict
654Phosphoserine(CDC2)HMM predict
654Phosphoserine(MAPK)HMM predict
660O-linkedHMM predict
663O-linkedHMM predict
663Phosphoserine(CDC2)HMM predict
663Phosphoserine(MAPK)HMM predict
672O-linkedHMM predict
672Phosphoserine(MAPK)HMM predict
672Phosphoserine(ATM)HMM predict
672Phosphoserine(IKK)HMM predict
677Phosphoserine(CDC2)HMM predict
677Phosphoserine(MAPK)HMM predict
692Phosphoserine(CK2)HMM predict
708Phosphoserine(CDC2)HMM predict
708Phosphoserine(MAPK)HMM predict
708Phosphoserine(ATM)HMM predict
714N-linkedHMM predict
729O-linkedHMM predict
729Phosphoserine(CDC2)HMM predict
729Phosphoserine(ATM)HMM predict
732O-linkedHMM predict
732Phosphoserine(CDC2)HMM predict
732Phosphoserine(CDK)HMM predict
732Phosphoserine(IKK)HMM predict
765O-linkedHMM predict
765Phosphoserine(IKK)HMM predict
775Phosphoserine(ATM)HMM predict
775Phosphoserine(IKK)HMM predict
778Phosphoserine(CDC2)HMM predict
781Phosphoserine(CDC2)HMM predict
781Phosphoserine(CDK)HMM predict
790Phosphoserine(CK2)HMM predict
816O-linkedHMM predict
817O-linkedHMM predict
817Phosphoserine(CDC2)HMM predict
817Phosphoserine(MAPK)HMM predict
817Phosphoserine(CDK)HMM predict
817Phosphoserine(IKK)HMM predict
817PhosphoserineHMM predict
821O-linkedHMM predict
858Phosphoserine(ATM)HMM predict
858Phosphoserine(IKK)HMM predict
865O-linkedHMM predict
865Phosphothreonine(MAPK)HMM predict
889Phosphothreonine(MAPK)HMM predict
920Phosphothreonine(MAPK)HMM predict
920Phosphothreonine(CDK)HMM predict
937Phosphoserine(ATM)HMM predict
954Phosphoserine(CDC2)HMM predict
1018Phosphoserine(PKA)HMM predict
1018Phosphoserine(PKG)HMM predict
1019Phosphoserine(CAMK2)HMM predict
1019Phosphoserine(CDC2)HMM predict
1019Phosphoserine(CDK)HMM predict
1019Phosphoserine(IKK)HMM predict
1019Phosphoserine(PKB)HMM predict
1032Phosphoserine(IKK)HMM predict
1032Phosphoserine(PKB)HMM predict
1040MethylarginineHMM predict
1049MethylarginineHMM predict
1051MethylarginineHMM predict
1056Phosphoserine(IKK)HMM predict
1056Phosphoserine(PKB)HMM predict
1072Phosphoserine(CDC2)HMM predict
1074Phosphoserine(CK1)HMM predict
1264Phosphothreonine(CK2)HMM predict
1327N-linkedHMM predict
1372Phosphothreonine(CK2)HMM predict
1396Phosphoserine(MAPK)HMM predict
1447Phosphoserine(CK1)HMM predict
1487Phosphoserine(PKG)HMM predict
1545Phosphoserine(ATM)HMM predict
1568Phosphothreonine(CDC2)HMM predict
1568Phosphothreonine(MAPK)HMM predict
1579Phosphoserine(CDC2)HMM predict
1590Phosphothreonine(MAPK)HMM predict
1604Phosphoserine(CK1)HMM predict
1644Phosphothreonine(MAPK)HMM predict
1644Phosphothreonine(CDK)HMM predict
1701O-linkedHMM predict
1704O-linkedHMM predict
1705O-linkedHMM predict
1707O-linkedHMM predict
1707O-linkedHMM predict
1708O-linkedHMM predict
1711O-linkedHMM predict
1711Phosphothreonine(MAPK)HMM predict
1713O-linkedHMM predict
1744Phosphoserine(MAPK)HMM predict
1840O-linkedHMM predict
1853O-linkedHMM predict
1874O-linkedHMM predict
1880Phosphoserine(CDC2)HMM predict
1898Phosphoserine(ATM)HMM predict
1926O-linkedHMM predict
1926Phosphoserine(CDC2)HMM predict
1926Phosphoserine(CDK)HMM predict
1928O-linkedHMM predict
1928O-linkedHMM predict
1953O-linkedHMM predict
1954O-linkedHMM predict
1958O-linkedHMM predict
1958Phosphothreonine(MAPK)HMM predict
1958Phosphothreonine(CDK)HMM predict
1965Phosphothreonine(MAPK)HMM predict
1976Phosphoserine(PKA)HMM predict
1999Phosphoserine(MAPK)HMM predict
1999Phosphoserine(ATM)HMM predict
2021O-linkedHMM predict
2023O-linkedHMM predict
2024Phosphotyrosine(SRC)HMM predict
2024Phosphotyrosine(INSR)HMM predict
2036Phosphoserine(CK1)HMM predict
2057Phosphothreonine(MAPK)HMM predict
2061Phosphoserine(PKG)HMM predict
2086Phosphoserine(ATM)HMM predict
2098Phosphoserine(IKK)HMM predict
2099Phosphotyrosine(INSR)HMM predict
2103Phosphotyrosine(Syk)HMM predict
2109Phosphothreonine(MAPK)HMM predict
2139Phosphoserine(CDC2)HMM predict
2139Phosphoserine(CDK)HMM predict
2139Phosphoserine(IKK)HMM predict
2142Phosphoserine(IKK)HMM predict
2144Phosphoserine(IKK)HMM predict
2146O-linkedHMM predict
2146Phosphoserine(ATM)HMM predict
2148Phosphoserine(CDC2)HMM predict
2148Phosphoserine(CDK)HMM predict
2148Phosphoserine(IKK)HMM predict
2151Phosphothreonine(MAPK)HMM predict
2163Phosphoserine(CDC2)HMM predict
2171Phosphoserine(CDK)HMM predict
2175Phosphotyrosine(Abl)HMM predict
2175Phosphotyrosine(Syk)HMM predict
2180Phosphoserine(IKK)HMM predict
2246Phosphoserine(CDC2)HMM predict
2271O-linkedHMM predict
2296Phosphothreonine(PKC)HMM predict
2304N-linkedHMM predict
2315O-linkedHMM predict
2317Phosphoserine(CDC2)HMM predict
2323O-linkedHMM predict
2325Phosphoserine(IKK)HMM predict
2333Phosphoserine(CDC2)HMM predict
2333Phosphoserine(CDK)HMM predict
2339O-linkedHMM predict
2339Phosphoserine(PKC)HMM predict
2352Phosphotyrosine(Jak)HMM predict
2365Phosphoserine(CDC2)HMM predict
2365Phosphoserine(MAPK)HMM predict
2398Phosphoserine(ATM)HMM predict
2451Phosphoserine(CDC2)HMM predict
2451Phosphoserine(MAPK)HMM predict
2498O-linkedHMM predict
2505Phosphothreonine(MAPK)HMM predict
2507O-linkedHMM predict
2564Phosphoserine(IKK)HMM predict
2565Phosphothreonine(MAPK)HMM predict
2583O-linkedHMM predict
2628MethylarginineHMM predict
2660O-linkedHMM predict
2668N-linkedHMM predict
2669N-linkedHMM predict
2777Phosphotyrosine(INSR)HMM predict
2838Phosphoserine(PKG)HMM predict
2855Phosphoserine(PKB)HMM predict
2899O-linkedHMM predict
2900O-linkedHMM predict
2900Phosphoserine(CDK)HMM predict
2901Phosphoserine(CK2)HMM predict
2922Phosphothreonine(MAPK)HMM predict
2922Phosphothreonine(CDK)HMM predict
2924Phosphoserine(CDC2)HMM predict
2924Phosphoserine(MAPK)HMM predict
3030O-linkedHMM predict
3030Phosphoserine(IKK)HMM predict
3034Phosphoserine(ATM)HMM predict
3103Phosphoserine(ATM)HMM predict
3181Phosphoserine(IKK)HMM predict
3213Phosphoserine(ATM)HMM predict
3235SulfotyrosineHMM predict
3235Phosphotyrosine(Syk)HMM predict
3345Phosphoserine(CDC2)HMM predict
3347Phosphoserine(ATM)HMM predict
3381MethylarginineHMM predict
3516Phosphoserine(CDC2)HMM predict
3516Phosphoserine(CDK)HMM predict
3561Phosphoserine(CK1)HMM predict
3562Phosphoserine(CDC2)HMM predict
3607Phosphoserine(CK1)HMM predict
3609Phosphoserine(ATM)HMM predict
3704N-linkedHMM predict
3711Phosphoserine(CDC2)HMM predict
3736Phosphoserine(MAPK)HMM predict
3759O-linkedHMM predict
3763O-linkedHMM predict
3795Phosphoserine(CK1)HMM predict
3812O-linkedHMM predict
3846Phosphoserine(IKK)HMM predict
3850O-linkedHMM predict
3854Phosphoserine(CK1)HMM predict
3854Phosphoserine(ATM)HMM predict
3872Phosphoserine(IKK)HMM predict
3891N-linkedHMM predict
3892N-linkedHMM predict
3965Phosphothreonine(MAPK)HMM predict
3968Phosphotyrosine(SRC)HMM predict
4022O-linkedHMM predict
4033O-linkedHMM predict
4033O-linkedHMM predict
4033Phosphothreonine(CDC2)HMM predict
4033Phosphothreonine(MAPK)HMM predict
4033PhosphothreonineHMM predict
4033Phosphothreonine(CDK)HMM predict
4037O-linkedHMM predict
4037O-linkedHMM predict
4038O-linkedHMM predict
4038Phosphoserine(CDC2)HMM predict
4038Phosphoserine(CDK)HMM predict
4050Phosphoserine(CDC2)HMM predict
4050Phosphoserine(MAPK)HMM predict
4050Phosphoserine(CDK)HMM predict
4050Phosphoserine(IKK)HMM predict
4052O-linkedHMM predict
4053Phosphoserine(IKK)HMM predict
4057O-linkedHMM predict
4068O-linkedHMM predict
4068Phosphothreonine(MAPK)HMM predict
4068Phosphothreonine(CDK)HMM predict
4075O-linkedHMM predict
4084Phosphoserine(CDC2)HMM predict
4244Phosphothreonine(MAPK)HMM predict
4331SulfotyrosineHMM predict
4340N-linkedHMM predict
4343N-linkedHMM predict
4346Phosphothreonine(MAPK)HMM predict
4346Phosphothreonine(CDK)HMM predict
4346PhosphothreonineHMM predict
4349O-linkedHMM predict
4350O-linkedHMM predict
4354O-linkedHMM predict
4354Phosphothreonine(MAPK)HMM predict
4354PhosphothreonineHMM predict
4368Phosphothreonine(MAPK)HMM predict
4407Phosphothreonine(MAPK)HMM predict
4407Phosphothreonine(CDK)HMM predict
4411N-linkedHMM predict
4424Phosphoserine(ATM)HMM predict
4426Phosphoserine(ATM)HMM predict
4426Phosphoserine(IKK)HMM predict
4426PhosphoserineHMM predict
4435Phosphoserine(CDC2)HMM predict
4435Phosphoserine(CDK)HMM predict
4463Phosphoserine(CDC2)HMM predict
4547Phosphoserine(CDC2)HMM predict
4553Phosphothreonine(PKC)HMM predict
4622N-linkedHMM predict
4625N-linkedHMM predict
4640O-linkedHMM predict
4640Phosphoserine(IKK)HMM predict
4644O-linkedHMM predict
4644Phosphoserine(CDC2)HMM predict
4649O-linkedHMM predict
4649Phosphoserine(CDC2)HMM predict
4649Phosphoserine(CDK)HMM predict
4649Phosphoserine(IKK)HMM predict
4652Phosphoserine(CDC2)HMM predict
4652Phosphoserine(MAPK)HMM predict
4652Phosphoserine(IKK)HMM predict
4673O-linkedHMM predict
4673Phosphoserine(CDC2)HMM predict
4680Phosphoserine(CDC2)HMM predict
4680Phosphoserine(CDK)HMM predict
4795Phosphotyrosine(Syk)HMM predict
5059N-linkedHMM predict
5081N-linkedHMM predict
5083O-linkedHMM predict
5099Phosphothreonine(CDC2)HMM predict
5099Phosphothreonine(MAPK)HMM predict
5168Phosphotyrosine(SRC)HMM predict
5199N-linkedHMM predict
5205N-linkedHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003482
  • Location:chr12 47701831-47735373
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 47736094 47736248 154 798
ETS1 JurkatGSE17954 47735891 47737189 1298 1167
H3K4me2 HCT116GSE10453 47736320 47738335 2015 1954
H3K4me3 colorectalcancer 47737658 47739866 2208 3389
H3ac HepG2E 47736320 47739696 3376 2635
RARG MCF7GSE15244 47737729 47738069 340 2526
TAF HelaGSE8489 47736058 47738480 2422 1896
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 47701163 47701806 643 347
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 47723882 47724187 305 0
CTCF CD4SISSRdata 47723882 47724187 305 0
CTCF G2GSE9613 47702432 47702774 342 0
CTCF G2GSE9613 47708957 47709138 181 0
CTCF G2GSE9613 47711790 47712365 575 0
CTCF G2GSE9613 47713192 47713889 697 0
CTCF G2GSE9613 47717359 47718075 716 0
CTCF G2GSE9613 47718510 47718858 348 0
CTCF G2GSE9613 47721327 47721650 323 0
CTCF G2GSE9613 47722859 47725105 2246 0
CTCF G2GSE9613 47725979 47726868 889 0
CTCF G2GSE9613 47729162 47729700 538 0
CTCF G2GSE9613 47730451 47730817 366 0
CTCF G2GSE9613 47731313 47731921 608 0
CTCF G2GSE9613 47732290 47732650 360 0
CTCF G2GSE9613 47732957 47733252 295 0
CTCF G2GSE9613 47734043 47734683 640 0
NRSF pAbJurkat 47711209 47711999 790 0
NRSF pAbJurkat 47725979 47726868 889 0
Oct1 HelaGSE14283 47734873 47734928 55 0
hScc1 CdLSGSE12603 47723849 47724208 359 0
hScc1 G2GSE9613 47730311 47731956 1645 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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