KMT2D H5059R [nucleoplasm]

Stable Identifier
R-HSA-9945066
Type
Protein [EntityWithAccessionedSequence]
Species
Homo sapiens
Compartment
nucleoplasm
Synonyms
MLL4 H5059R, KMT2D His5059Arg
Locations in the PathwayBrowser
Expand all
Literature References
PubMed ID Title Journal Year
30107592 Dissecting KMT2D missense mutations in Kabuki syndrome patients

Cocciadiferro, D, Augello, B, De Nittis, P, Zhang, J, Mandriani, B, Malerba, N, Squeo, GM, Romano, A, Piccinni, B, Verri, T, Micale, L, Pasqualucci, L, Merla, G

Hum Mol Genet 2018
External Reference Information
External Reference
UniProt:O14686 KMT2D
Gene Names
KMT2D, ALR, MLL2, MLL4
Chain
chain:1-5537
Reference Genes
BioGPS Gene:8085 KMT2D
COSMIC - genes:KMT2D KMT2D
CTD Gene:8085 KMT2D
dbSNP Gene:8085 KMT2D
ENSEMBL:ENSG00000167548 KMT2D
HGNC:7133 KMT2D
KEGG:hsa:8085 KMT2D
Monarch:8085 KMT2D
NCBI Gene:8085 KMT2D
OMIM:602113 KMT2D
UCSC:O14686 KMT2D
Reference Transcript
Other Identifiers
11743695_at
11748924_a_at
16764160
211790_PM_s_at
211790_s_at
227527_PM_at
227527_at
227528_PM_s_at
227528_s_at
231974_PM_at
231974_at
3453585
3453586
3453587
3453588
3453589
3453590
3453591
3453593
3453594
3453595
3453596
3453597
3453598
3453599
3453600
3453601
3453602
3453603
3453604
3453605
3453606
3453607
3453608
3453609
3453610
3453611
3453612
3453613
3453614
3453615
3453616
3453617
3453618
3453619
3453620
3453621
3453622
3453623
3453624
3453625
3453626
3453627
3453628
3453629
3453630
3453631
3453632
3453633
3453634
3453635
3453636
3453637
3453638
3453639
3453640
3453641
3453642
3453643
3453644
3453645
3453646
3453647
3453648
3453649
3453650
3453651
3453652
3453653
3453654
3453655
3453656
3453657
3453658
3453659
3453660
3453661
3453662
3453663
3453664
3453665
3453666
3453667
3453668
3453669
3453670
3453671
3453672
3453673
3453674
3453675
3453676
3453677
3453678
3453679
3453680
3453682
3453683
3453685
3453686
3453687
3453688
3453689
3453690
3453691
3453692
3453693
3453694
3453695
3453696
3453697
3453698
3453699
3453700
3453701
3453702
3453703
3453704
3453705
3453706
3453708
3453709
3453713
38165_s_at
38166_r_at
64110_at
7962951
8085
A_23_P13711
A_24_P212559
A_33_P3340254
GE81286
GO:0000976
GO:0001555
GO:0003677
GO:0003713
GO:0003824
GO:0005515
GO:0005634
GO:0005654
GO:0006325
GO:0006338
GO:0006355
GO:0008168
GO:0008270
GO:0008284
GO:0016740
GO:0016746
GO:0022414
GO:0031507
GO:0032259
GO:0033148
GO:0035097
GO:0042800
GO:0043627
GO:0044666
GO:0045944
GO:0046872
GO:0048477
GO:0048856
GO:0065003
GO:0140096
GO:0140945
GO:0140999
GO:1904837
HMNXSV003050202
Hs.3640.0.S1_3p_a_at
Hs.3640.0.S1_3p_at
Hs.3640.1.A1_3p_at
ILMN_1802743
PH_hs_0024422
TC12003277.hg
g2358286_3p_a_at
Participates
as a candidate of
Other forms of this molecule
KMT2D R5471M [nucleoplasm]
KMT2D W5217R [nucleoplasm]
KMT2D H5059P [nucleoplasm]
KMT2D R5340Q [nucleoplasm]
KMT2D R3321* [nucleoplasm]
KMT2D E5425K [nucleoplasm]
KMT2D Y5510D [nucleoplasm]
KMT2D M999Yfs*69 [nucleoplasm]
KMT2D K1885Qfs*18 [nucleoplasm]
KMT2D G5189R [nucleoplasm]
KMT2D T5098P [nucleoplasm]
KMT2D R2635* [nucleoplasm]
KMT2D R3707* [nucleoplasm]
KMT2D R5027* [nucleoplasm]
KMT2D E5008* [nucleoplasm]
KMT2D L449Vfs*5 [nucleoplasm]
KMT2D Q2004* [nucleoplasm]
KMT2D I1509Vfs*6 [nucleoplasm]
KMT2D R1687Tfs*4 [nucleoplasm]
KMT2D Q4230* [nucleoplasm]
KMT2D P235Afs*6 [nucleoplasm]
KMT2D E4887* [nucleoplasm]
KMT2D R2687* [nucleoplasm]
KMT2D Q1755* [nucleoplasm]
KMT2D H4132Pfs*10 [nucleoplasm]
KMT2D Q4101* [nucleoplasm]
KMT2D W2818* [nucleoplasm]
KMT2D Q3951* [nucleoplasm]
KMT2D W4730* [nucleoplasm]
KMT2D S1632* [nucleoplasm]
KMT2D Q2816Tfs*29 [nucleoplasm]
KMT2D N4861* [nucleoplasm]
KMT2D K4768* [nucleoplasm]
KMT2D L3564Efs*28 [nucleoplasm]
KMT2D Y1559* [nucleoplasm]
KMT2D M3295Lfs*39 [nucleoplasm]
KMT2D Q3524* [nucleoplasm]
KMT2D R2734* [nucleoplasm]
KMT2D Q3901* [nucleoplasm]
KMT2D A4824Pfs*34 [nucleoplasm]
KMT2D Q1717* [nucleoplasm]
KMT2D W1591Afs*11 [nucleoplasm]
KMT2D I182Lfs*25 [nucleoplasm]
KMT2D R4198* [nucleoplasm]
KMT2D P647Hfs*283 [nucleoplasm]
KMT2D K2985* [nucleoplasm]
KMT2D N4403Wfs*6 [nucleoplasm]
KMT2D E3008* [nucleoplasm]
KMT2D V1564Wfs*12 [nucleoplasm]
KMT2D E4409* [nucleoplasm]
KMT2D Q2237Tfs*28 [nucleoplasm]
KMT2D R5021* [nucleoplasm]
KMT2D S3614* [nucleoplasm]
KMT2D D704Sfs*26 [nucleoplasm]
KMT2D Q1922* [nucleoplasm]
KMT2D Q3878* [nucleoplasm]
KMT2D F2494Vfs*12 [nucleoplasm]
KMT2D E958Rfs*11 [nucleoplasm]
KMT2D G1811Rfs*15 [nucleoplasm]
KMT2D E4935* [nucleoplasm]
KMT2D S2251* [nucleoplasm]
KMT2D K3565Sfs*93 [nucleoplasm]
KMT2D Q3910* [nucleoplasm]
KMT2D V1064Sfs*55 [nucleoplasm]
KMT2D Q3934* [nucleoplasm]
KMT2D Q4329* [nucleoplasm]
KMT2D P2470Sfs*7 [nucleoplasm]
KMT2D K2755* [nucleoplasm]
KMT2D P2575Lfs*8 [nucleoplasm]
KMT2D V3809Cfs*21 [nucleoplasm]
KMT2D Q3400* [nucleoplasm]
KMT2D M999* [nucleoplasm]
KMT2D Q3964* [nucleoplasm]
KMT2D Q4503* [nucleoplasm]
KMT2D Q3949* [nucleoplasm]
KMT2D Q3991* [nucleoplasm]
KMT2D S4414* [nucleoplasm]
KMT2D Q3923Hfs*56 [nucleoplasm]
KMT2D C1403* [nucleoplasm]
KMT2D Q4103_Q4104delinsH* [nucleoplasm]
KMT2D V1381Gfs*50 [nucleoplasm]
KMT2D Q56* [nucleoplasm]
KMT2D C1408Vfs*9 [nucleoplasm]
KMT2D Q3499* [nucleoplasm]
KMT2D G1823* [nucleoplasm]
KMT2D P4918Lfs*77 [nucleoplasm]
KMT2D L2319Pfs*7 [nucleoplasm]
KMT2D Q1402* [nucleoplasm]
KMT2D Q3341* [nucleoplasm]
KMT2D S1722Rfs*9 [nucleoplasm]
KMT2D Q4223* [nucleoplasm]
KMT2D L2331Pfs*46 [nucleoplasm]
KMT2D F3699Lfs*14 [nucleoplasm]
KMT2D S1217Kfs*33 [nucleoplasm]
KMT2D Q3499Rfs*5 [nucleoplasm]
KMT2D H4460Ifs*59 [nucleoplasm]
KMT2D L289* [nucleoplasm]
KMT2D T4343Rfs*42 [nucleoplasm]
KMT2D Q3938* [nucleoplasm]
KMT2D Q4997* [nucleoplasm]
KMT2D Q3943* [nucleoplasm]
KMT2D L5020Tfs*2 [nucleoplasm]
KMT2D Q4270* [nucleoplasm]
KMT2D P2724Qfs*5 [nucleoplasm]
KMT2D G4112Vfs*8 [nucleoplasm]
KMT2D T698Hfs*6 [nucleoplasm]
KMT2D Q1893* [nucleoplasm]
KMT2D W141* [nucleoplasm]
KMT2D Q3756* [nucleoplasm]
KMT2D E722Sfs*208 [nucleoplasm]
KMT2D R2830* [nucleoplasm]
KMT2D Q3726Nfs*23 [nucleoplasm]
KMT2D E1072* [nucleoplasm]
KMT2D L2321* [nucleoplasm]
KMT2D Q3735* [nucleoplasm]
KMT2D H5059Y [nucleoplasm]
KMT2D L3432Ffs*36 [nucleoplasm]
KMT2D G3465Dfs*37 [nucleoplasm]
KMT2D K1466Qfs*25 [nucleoplasm]
KMT2D V3787Gfs*225 [nucleoplasm]
KMT2D Q4183Afs*151 [nucleoplasm]
KMT2D P4246Lfs*32 [nucleoplasm]
KMT2D S4958* [nucleoplasm]
KMT2D A4835Sfs*2 [nucleoplasm]
KMT2D L4901Wfs*94 [nucleoplasm]
KMT2D S4321* [nucleoplasm]
KMT2D R2099* [nucleoplasm]
KMT2D E4481* [nucleoplasm]
KMT2D E3046* [nucleoplasm]
KMT2D C197Afs*11 [nucleoplasm]
KMT2D Q2166* [nucleoplasm]
KMT2D P4750Qfs*47 [nucleoplasm]
KMT2D Q3839* [nucleoplasm]
KMT2D S146* [nucleoplasm]
KMT2D Q3604* [nucleoplasm]
KMT2D R466Tfs*7 [nucleoplasm]
KMT2D Q809Pfs*3 [nucleoplasm]
KMT2D Q3990* [nucleoplasm]
KMT2D R2282Gfs*4 [nucleoplasm]
KMT2D Q4233* [nucleoplasm]
KMT2D Q3956* [nucleoplasm]
KMT2D Q3919* [nucleoplasm]
KMT2D E605* [nucleoplasm]
KMT2D P1736Lfs*13 [nucleoplasm]
KMT2D E830* [nucleoplasm]
KMT2D K1712Rfs*22 [nucleoplasm]
KMT2D K287* [nucleoplasm]
KMT2D Q3993* [nucleoplasm]
KMT2D T1198Lfs*14 [nucleoplasm]
KMT2D L4302Pfs*32 [nucleoplasm]
KMT2D E4056Sfs*10 [nucleoplasm]
KMT2D R2460Vfs*25 [nucleoplasm]
KMT2D R1757* [nucleoplasm]
KMT2D S370Tfs*43 [nucleoplasm]
KMT2D Q2473* [nucleoplasm]
KMT2D L860Vfs*5 [nucleoplasm]
KMT2D D383Tfs*19 [nucleoplasm]
KMT2D G2224Ifs*17 [nucleoplasm]
KMT2D Q4239* [nucleoplasm]
KMT2D P2502Qfs*41 [nucleoplasm]
KMT2D E2081Dfs*22 [nucleoplasm]
KMT2D Q2208* [nucleoplasm]
KMT2D E1661Gfs*5 [nucleoplasm]
KMT2D E455* [nucleoplasm]
KMT2D P986Tfs*4 [nucleoplasm]
KMT2D Q4157* [nucleoplasm]
KMT2D R1709Hfs*25 [nucleoplasm]
KMT2D R4536* [nucleoplasm]
KMT2D Q3924* [nucleoplasm]
KMT2D L4449Pfs*70 [nucleoplasm]
KMT2D W91* [nucleoplasm]
KMT2D Q773Pfs*3 [nucleoplasm]
KMT2D Q3667* [nucleoplasm]
KMT2D K2548Nfs*35 [nucleoplasm]
KMT2D A4908Pfs*87 [nucleoplasm]
KMT2D S3239Yfs*3 [nucleoplasm]
KMT2D P2029Lfs*18 [nucleoplasm]
KMT2D S4948* [nucleoplasm]
KMT2D R1324* [nucleoplasm]
KMT2D Q3322* [nucleoplasm]
KMT2D V4139Cfs*29 [nucleoplasm]
KMT2D A4599Hfs*4 [nucleoplasm]
KMT2D L345Vfs*56 [nucleoplasm]
KMT2D R4319Tfs*14 [nucleoplasm]
KMT2D Y251Lfs*22 [nucleoplasm]
KMT2D K4527* [nucleoplasm]
KMT2D S3713* [nucleoplasm]
KMT2D Q4249* [nucleoplasm]
KMT2D G4023Sfs*18 [nucleoplasm]
KMT2D E2225Gfs*18 [nucleoplasm]
KMT2D R2645* [nucleoplasm]
KMT2D R1702* [nucleoplasm]
KMT2D P1580Qfs*13 [nucleoplasm]
KMT2D E1074* [nucleoplasm]
KMT2D R2915* [nucleoplasm]
KMT2D P886Lfs*44 [nucleoplasm]
KMT2D W2038* [nucleoplasm]
KMT2D L1264Afs*4 [nucleoplasm]
KMT2D S4507Afs*12 [nucleoplasm]
KMT2D Q3312* [nucleoplasm]
KMT2D M3894Wfs*85 [nucleoplasm]
KMT2D R4282* [nucleoplasm]
KMT2D Q3518* [nucleoplasm]
KMT2D G3819Afs*11 [nucleoplasm]
KMT2D E839* [nucleoplasm]
KMT2D S4124Hfs*14 [nucleoplasm]
KMT2D D5005Mfs*46 [nucleoplasm]
KMT2D M1379Vfs*52 [nucleoplasm]
KMT2D Q3759* [nucleoplasm]
KMT2D L256Rfs*5 [nucleoplasm]
KMT2D E4061Dfs*5 [nucleoplasm]
KMT2D K3258Rfs*72 [nucleoplasm]
KMT2D L434* [nucleoplasm]
KMT2D Q3898* [nucleoplasm]
KMT2D K417Nfs*3 [nucleoplasm]
KMT2D R1615* [nucleoplasm]
KMT2D L2104Pfs*40 [nucleoplasm]
KMT2D V3089Gfs*9 [nucleoplasm]
KMT2D Q3546Hfs*112 [nucleoplasm]
KMT2D Q4102* [nucleoplasm]
KMT2D A1109Gfs*2 [nucleoplasm]
KMT2D Q3911* [nucleoplasm]
KMT2D Q4322* [nucleoplasm]
KMT2D P498* [nucleoplasm]
KMT2D S2765Pfs*22 [nucleoplasm]
KMT2D Q3915* [nucleoplasm]
KMT2D L725Vfs*5 [nucleoplasm]
KMT2D C69* [nucleoplasm]
KMT2D R4904* [nucleoplasm]
KMT2D Y4896* [nucleoplasm]
KMT2D A4594Pfs*23 [nucleoplasm]
KMT2D G2114Afs*30 [nucleoplasm]
KMT2D S2590* [nucleoplasm]
KMT2D Q3961* [nucleoplasm]
KMT2D W4982* [nucleoplasm]
KMT2D D57Tfs*73 [nucleoplasm]
KMT2D W4987* [nucleoplasm]
KMT2D R755Pfs*3 [nucleoplasm]
KMT2D Q3755* [nucleoplasm]
KMT2D S609Pfs*321 [nucleoplasm]
KMT2D P1197Tfs*10 [nucleoplasm]
KMT2D S940* [nucleoplasm]
KMT2D A2058Pfs*36 [nucleoplasm]
KMT2D Q2796* [nucleoplasm]
KMT2D P4739Rfs*42 [nucleoplasm]
KMT2D G3844Vfs*37 [nucleoplasm]
KMT2D Q3453* [nucleoplasm]
KMT2D A1390Qfs*27 [nucleoplasm]
KMT2D R3982* [nucleoplasm]
KMT2D A2205Gfs*38 [nucleoplasm]
KMT2D L1461Tfs*30 [nucleoplasm]
KMT2D R4960* [nucleoplasm]
KMT2D N2025* [nucleoplasm]
KMT2D A4014Sfs*23 [nucleoplasm]
KMT2D R2471* [nucleoplasm]
KMT2D P1232Rfs*98 [nucleoplasm]
KMT2D Q4200* [nucleoplasm]
KMT2D Q3988* [nucleoplasm]
KMT2D S510* [nucleoplasm]
KMT2D W4856* [nucleoplasm]
KMT2D A2826Tfs*29 [nucleoplasm]
KMT2D P4976Sfs*31 [nucleoplasm]
KMT2D K1760* [nucleoplasm]
KMT2D E2676Afs*47 [nucleoplasm]
KMT2D T2323Dfs*3 [nucleoplasm]
KMT2D L434Pfs*12 [nucleoplasm]
KMT2D I4440* [nucleoplasm]
KMT2D E2476Kfs*9 [nucleoplasm]
KMT2D S4633Ifs*14 [nucleoplasm]
KMT2D Q3605* [nucleoplasm]
KMT2D Q3370Rfs*22 [nucleoplasm]
KMT2D L4992Rfs*3 [nucleoplasm]
KMT2D E4316* [nucleoplasm]
KMT2D Q3717* [nucleoplasm]
KMT2D K2985Sfs*19 [nucleoplasm]
KMT2D G202Afs*7 [nucleoplasm]
KMT2D Q3865Pfs*144 [nucleoplasm]
KMT2D S4010* [nucleoplasm]
KMT2D R2050Ifs*5 [nucleoplasm]
KMT2D C2395Tfs*29 [nucleoplasm]
KMT2D E2844Afs*4 [nucleoplasm]
KMT2D E1663* [nucleoplasm]
KMT2D E1957* [nucleoplasm]
KMT2D Q2682* [nucleoplasm]
KMT2D Q3799* [nucleoplasm]
KMT2D Q4335Pfs*48 [nucleoplasm]
KMT2D Q3796Rfs*34 [nucleoplasm]
KMT2D R2801* [nucleoplasm]
KMT2D R4666Gfs*23 [nucleoplasm]
KMT2D E4957Nfs*38 [nucleoplasm]
KMT2D E490Nfs*439 [nucleoplasm]
KMT2D L656Rfs*274 [nucleoplasm]
KMT2D S1263* [nucleoplasm]
KMT2D P544Hfs*383 [nucleoplasm]
KMT2D S4393Pfs*16 [nucleoplasm]
KMT2D D1121Tfs*43 [nucleoplasm]
KMT2D S2927* [nucleoplasm]
KMT2D L545Rfs*385 [nucleoplasm]
KMT2D D3005Gfs*2 [nucleoplasm]
KMT2D K2096* [nucleoplasm]
KMT2D Q2693* [nucleoplasm]
KMT2D S1037Pfs*30 [nucleoplasm]
KMT2D E1287Gfs*38 [nucleoplasm]
KMT2D Q3460* [nucleoplasm]
KMT2D A3552Cfs*4 [nucleoplasm]
KMT2D R2771* [nucleoplasm]
KMT2D T2827Sfs*19 [nucleoplasm]
KMT2D S102Efs*6 [nucleoplasm]
KMT2D Q4405* [nucleoplasm]
KMT2D S849* [nucleoplasm]
KMT2D Q1041* [nucleoplasm]
KMT2D A2119Rfs*36 [nucleoplasm]
KMT2D P4098Qfs*22 [nucleoplasm]
KMT2D S2839* [nucleoplasm]
KMT2D A2101Tfs*55 [nucleoplasm]
KMT2D Q3340* [nucleoplasm]
KMT2D Q4156Nfs*5 [nucleoplasm]
KMT2D V1078Sfs*5 [nucleoplasm]
KMT2D Q3842* [nucleoplasm]
KMT2D R4288Lfs*94 [nucleoplasm]
KMT2D L4941Ffs*3 [nucleoplasm]
KMT2D A422Qfs*13 [nucleoplasm]
KMT2D E3244* [nucleoplasm]
KMT2D Q3924Pfs*88 [nucleoplasm]
KMT2D E86* [nucleoplasm]
KMT2D Q2170Kfs*94 [nucleoplasm]
KMT2D Q4859* [nucleoplasm]
KMT2D Q4401* [nucleoplasm]
KMT2D T2949Nfs*24 [nucleoplasm]
KMT2D R4515Kfs*60 [nucleoplasm]
KMT2D L3880Dfs*131 [nucleoplasm]
KMT2D Q4315* [nucleoplasm]
KMT2D C346Sfs*17 [nucleoplasm]
KMT2D R1322Lfs*8 [nucleoplasm]
KMT2D Q4554* [nucleoplasm]
KMT2D C1489Vfs*17 [nucleoplasm]
KMT2D Q4007* [nucleoplasm]
KMT2D G3366Wfs*25 [nucleoplasm]
KMT2D V3073Efs*46 [nucleoplasm]
KMT2D E4943* [nucleoplasm]
KMT2D Q3826Cfs*3 [nucleoplasm]
KMT2D Q3936* [nucleoplasm]
KMT2D V2551Sfs*32 [nucleoplasm]
KMT2D T4890Sfs*104 [nucleoplasm]
KMT2D Q2876* [nucleoplasm]
KMT2D Q1185* [nucleoplasm]
KMT2D G4459Tfs*20 [nucleoplasm]
KMT2D Y4606* [nucleoplasm]
KMT2D L3542Vfs*13 [nucleoplasm]
KMT2D P99Lfs*31 [nucleoplasm]
KMT2D M2669Pfs*7 [nucleoplasm]
KMT2D P235Qfs*26 [nucleoplasm]
KMT2D Q4364Rfs*20 [nucleoplasm]
KMT2D Q2811Tfs*34 [nucleoplasm]
KMT2D P4630Hfs*10 [nucleoplasm]
KMT2D L4253Pfs*81 [nucleoplasm]
KMT2D P444Rfs*485 [nucleoplasm]
KMT2D Q1302Tfs*23 [nucleoplasm]
KMT2D Q3943Hfs*36 [nucleoplasm]
KMT2D H3824Qfs*187 [nucleoplasm]
KMT2D Y4758Lfs*24 [nucleoplasm]
KMT2D A2205Nfs*38 [nucleoplasm]
KMT2D G1235Vfs*95 [nucleoplasm]
KMT2D L4674Rfs*120 [nucleoplasm]
KMT2D W4982Gfs*13 [nucleoplasm]
KMT2D H4132Pfs*36 [nucleoplasm]
KMT2D P1196Tfs*11 [nucleoplasm]
KMT2D L4539Rfs*14 [nucleoplasm]
KMT2D P2662Qfs*29 [nucleoplasm]
KMT2D Q3276Afs*25 [nucleoplasm]
KMT2D A180Dfs*40 [nucleoplasm]
KMT2D V1851Rfs*9 [nucleoplasm]
KMT2D A28Cfs*3 [nucleoplasm]
KMT2D S3199Afs*3 [nucleoplasm]
KMT2D S1107Afs*12 [nucleoplasm]
KMT2D R5340L [nucleoplasm]
KMT2D G4299Dfs*85 [nucleoplasm]
KMT2D S2409Lfs*25 [nucleoplasm]
KMT2D T199Vfs*6 [nucleoplasm]
KMT2D E237Sfs*24 [nucleoplasm]
KMT2D P4909Hfs*86 [nucleoplasm]
KMT2D S102Afs*28 [nucleoplasm]
KMT2D K3235Dfs*15 [nucleoplasm]
KMT2D P2738Dfs*32 [nucleoplasm]
KMT2D L434Qfs*496 [nucleoplasm]
KMT2D I3420Nfs*3 [nucleoplasm]
KMT2D E4245Dfs*84 [nucleoplasm]
KMT2D R2428Gfs*57 [nucleoplasm]
KMT2D A2335Gfs*42 [nucleoplasm]
KMT2D S2269Pfs*15 [nucleoplasm]
KMT2D D2647Tfs*44 [nucleoplasm]
KMT2D A2496Sfs*10 [nucleoplasm]
KMT2D E1571Sfs*5 [nucleoplasm]
KMT2D L860Rfs*70 [nucleoplasm]
KMT2D L2331Rfs*8 [nucleoplasm]
KMT2D Y2199Lfs*3 [nucleoplasm]
KMT2D K1760Afs*26 [nucleoplasm]
KMT2D G1995* [nucleoplasm]
KMT2D A3552Sfs*4 [nucleoplasm]
KMT2D Q3950* [nucleoplasm]
KMT2D Q4905* [nucleoplasm]
KMT2D Q4429Sfs*3 [nucleoplasm]
KMT2D Y2199Ffs*65 [nucleoplasm]
KMT2D C2042* [nucleoplasm]
KMT2D E1171* [nucleoplasm]
KMT2D Q3904* [nucleoplasm]
KMT2D Q3892* [nucleoplasm]
KMT2D K1665Nfs*57 [nucleoplasm]
KMT2D E2476* [nucleoplasm]
KMT2D T4339Pfs*45 [nucleoplasm]
KMT2D L3564Afs*27 [nucleoplasm]
KMT2D Q2815Pfs*30 [nucleoplasm]
KMT2D S4669* [nucleoplasm]
KMT2D E446Sfs*484 [nucleoplasm]
KMT2D Q4687* [nucleoplasm]
KMT2D F2142Gfs*7 [nucleoplasm]
KMT2D Q3821* [nucleoplasm]
KMT2D Q3860* [nucleoplasm]
KMT2D R1252* [nucleoplasm]
KMT2D Y2199Ifs*65 [nucleoplasm]
KMT2D Q3279* [nucleoplasm]
KMT2D Q836Pfs*3 [nucleoplasm]
KMT2D Q4235Gfs*98 [nucleoplasm]
KMT2D E1588* [nucleoplasm]
KMT2D Q3774* [nucleoplasm]
KMT2D Q3609* [nucleoplasm]
KMT2D Q4221* [nucleoplasm]
KMT2D Q3364* [nucleoplasm]
KMT2D E156* [nucleoplasm]
KMT2D Q3570Sfs*89 [nucleoplasm]
KMT2D Q3683* [nucleoplasm]
KMT2D A1624Qfs*98 [nucleoplasm]
KMT2D Q3764* [nucleoplasm]
KMT2D A3103Lfs*16 [nucleoplasm]
KMT2D A2855Gfs*55 [nucleoplasm]
KMT2D S1180* [nucleoplasm]
KMT2D P1951Rfs*96 [nucleoplasm]
KMT2D K1301Nfs*29 [nucleoplasm]
KMT2D P1844Rfs*3 [nucleoplasm]
KMT2D W315* [nucleoplasm]
KMT2D Y1944* [nucleoplasm]
KMT2D G2262Wfs*37 [nucleoplasm]
KMT2D Q3274* [nucleoplasm]
KMT2D Q3968* [nucleoplasm]
KMT2D P1485Lfs*21 [nucleoplasm]
KMT2D R4484* [nucleoplasm]
KMT2D Q3916* [nucleoplasm]
KMT2D R2685* [nucleoplasm]
KMT2D A2294Gfs*5 [nucleoplasm]
KMT2D Y2060* [nucleoplasm]
KMT2D Q4090* [nucleoplasm]
KMT2D T2524Rfs*19 [nucleoplasm]
KMT2D R4319* [nucleoplasm]
KMT2D D1876Gfs*38 [nucleoplasm]
KMT2D A3808Lfs*22 [nucleoplasm]
KMT2D R2410* [nucleoplasm]
KMT2D L1366Sfs*9 [nucleoplasm]
KMT2D I182Hfs*38 [nucleoplasm]
KMT2D Q3277* [nucleoplasm]
KMT2D S3202Efs*13 [nucleoplasm]
KMT2D R5471K [nucleoplasm]
KMT2D R5471W [nucleoplasm]
KMT2D Q117* [nucleoplasm]
KMT2D R5471S [nucleoplasm]
KMT2D I4705Ffs*4 [nucleoplasm]
KMT2D L3657Qfs*89 [nucleoplasm]
KMT2D V4691Gfs*6 [nucleoplasm]
KMT2D R1903* [nucleoplasm]
KMT2D S4456* [nucleoplasm]
KMT2D P2400Lfs*26 [nucleoplasm]
KMT2D E730* [nucleoplasm]
KMT2D Y5510C [nucleoplasm]
KMT2D Y2060Tfs*34 [nucleoplasm]
KMT2D A1390Gfs*42 [nucleoplasm]
KMT2D Q1703* [nucleoplasm]
KMT2D T2191Hfs*11 [nucleoplasm]
KMT2D W3513* [nucleoplasm]
KMT2D Q2341* [nucleoplasm]
KMT2D P4945Nfs*13 [nucleoplasm]
KMT2D E2081Gfs*16 [nucleoplasm]
KMT2D E3004Rfs*3 [nucleoplasm]
KMT2D D1842Efs*10 [nucleoplasm]
KMT2D P3466Tfs*2 [nucleoplasm]
KMT2D S588Tfs*16 [nucleoplasm]
KMT2D L4551Cfs*2 [nucleoplasm]
KMT2D T4629Pfs*11 [nucleoplasm]
KMT2D Q2540Sfs*115 [nucleoplasm]
KMT2D G3316Vfs*14 [nucleoplasm]
KMT2D K4613Ifs*6 [nucleoplasm]
KMT2D R2771Dfs*16 [nucleoplasm]
KMT2D M1098Wfs*21 [nucleoplasm]
KMT2D A2119Lfs*25 [nucleoplasm]
KMT2D I4440Mfs*79 [nucleoplasm]
KMT2D R4975Vfs*20 [nucleoplasm]
KMT2D E524Kfs*406 [nucleoplasm]
KMT2D K4432Rfs*9 [nucleoplasm]
KMT2D P670Sfs*7 [nucleoplasm]
KMT2D K3140Rfs*2 [nucleoplasm]
KMT2D M1605Hfs*26 [nucleoplasm]
KMT2D A2058Sfs*10 [nucleoplasm]
KMT2D G2525Dfs*131 [nucleoplasm]
KMT2D G2668Vfs*4 [nucleoplasm]
KMT2D Q3867Afs*145 [nucleoplasm]
KMT2D P4454Lfs*65 [nucleoplasm]
KMT2D Q2109Afs*46 [nucleoplasm]
KMT2D V4139Ffs*28 [nucleoplasm]
KMT2D L238Cfs*23 [nucleoplasm]
KMT2D T5018Hfs*6 [nucleoplasm]
KMT2D E1661Sfs*61 [nucleoplasm]
KMT2D G398Vfs*4 [nucleoplasm]
KMT2D L3641Afs*34 [nucleoplasm]
KMT2D K2953Nfs*51 [nucleoplasm]
KMT2D Q3265Sfs*67 [nucleoplasm]
KMT2D S102Afs*28 [nucleoplasm]
KMT2D E4717Gfs*64 [nucleoplasm]
KMT2D Q3839Pfs*173 [nucleoplasm]
KMT2D P548Hfs*382 [nucleoplasm]
KMT2D R4433Kfs*54 [nucleoplasm]
KMT2D M4148Sfs*15 [nucleoplasm]
KMT2D M2784Gfs*60 [nucleoplasm]
KMT2D P583Lfs*347 [nucleoplasm]
KMT2D H4685Qfs*4 [nucleoplasm]
KMT2D T4629Hfs*18 [nucleoplasm]
KMT2D P411Tfs*7 [nucleoplasm]
KMT2D E3181Rfs*16 [nucleoplasm]
KMT2D T4271Afs*6 [nucleoplasm]
KMT2D P4293Qfs*86 [nucleoplasm]
KMT2D P1866Qfs*10 [nucleoplasm]
KMT2D S4907Lfs*84 [nucleoplasm]
KMT2D H4460Pfs*60 [nucleoplasm]
KMT2D G921Afs*40 [nucleoplasm]
KMT2D Q2876Sfs*34 [nucleoplasm]
KMT2D S1007Pfs*60 [nucleoplasm]
KMT2D A3593Qfs*65 [nucleoplasm]
KMT2D M2211Nfs*32 [nucleoplasm]
KMT2D T4787Sfs*29 [nucleoplasm]
KMT2D P763Rfs*167 [nucleoplasm]
KMT2D P3246Tfs*5 [nucleoplasm]
KMT2D C158Wfs*60 [nucleoplasm]
KMT2D S2431Lfs*53 [nucleoplasm]
KMT2D G3819Lfs*7 [nucleoplasm]
KMT2D [nucleoplasm]
KMT2D Q3913Hfs*66 [nucleoplasm]
KMT2D P1460Hfs*46 [nucleoplasm]
KMT2D P1607Tfs*24 [nucleoplasm]
KMT2D T2827Ifs*14 [nucleoplasm]
KMT2D L4993Cfs*2 [nucleoplasm]
KMT2D R4991Lfs*16 [nucleoplasm]
KMT2D P1181Hfs*31 [nucleoplasm]
KMT2D A254Pfs*7 [nucleoplasm]
KMT2D R845Gfs*85 [nucleoplasm]
KMT2D S4393Kfs*17 [nucleoplasm]
KMT2D E455Nfs*475 [nucleoplasm]
KMT2D K2089Rfs*5 [nucleoplasm]
KMT2D Q4202Rfs*15 [nucleoplasm]
KMT2D T382Lfs*20 [nucleoplasm]
KMT2D S2969Vfs*4 [nucleoplasm]
KMT2D C279Wfs*7 [nucleoplasm]
KMT2D C69Lfs*61 [nucleoplasm]
KMT2D G1467Afs*39 [nucleoplasm]
KMT2D S3075Ffs*3 [nucleoplasm]
KMT2D R3110Sfs*4 [nucleoplasm]
KMT2D C175Wfs*41 [nucleoplasm]
KMT2D E2339Gfs*36 [nucleoplasm]
Modified Residues
Name
L-histidine 5059 replaced with L-arginine
Coordinate
5059
PsiMod
L-arginine residue [MOD:00011]
A protein modification that effectively converts a source amino acid residue to an L-arginine.
L-histidine removal [MOD:01639]
A protein modification that effectively removes or replaces an L-histidine.
Disease
Name Identifier Synonyms
Kabuki syndrome DOID:0060473 KMS, Niikawa-Kuroki syndrome, Kabuki make up syndrome
Cross References
RefSeq
Guide to Pharmacology - Targets
OpenTargets
ENSEMBL
Mondo
ZINC - Substances
ZINC target
PRO
GlyGen
PDB
IntEnz
GeneCards
HPA
Pharos - Targets
Orphanet
ClinVar
HMDB Protein
Interactors (12)
Accession #Entities Entities Confidence Score Evidence (IntAct)
 UniProt:P61964 WDR5  1 0.914 11
 UniProt:Q9UBL3 ASH2L  1 0.892 11
 UniProt:Q15291 RBBP5  1 0.837 12
 UniProt:Q6ZW49 PAXIP1  1 0.643 8
 UniProt:Q9BTK6 PAGR1  1 0.643 4
 UniProt:P10275 AR  4 0.604 3
 UniProt:P62937 PPIA  5 0.558 2
 UniProt:O15550 KDM6A  1 0.527 7
 UniProt:Q6NZQ4 Paxip1  2 0.527 3
 UniProt:Q14686 NCOA6  1 0.527 5
 UniProt:P03372 ESR1  10 0.525 3
 UniProt:Q9UBL3-3 ASH2L      0.499 2
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