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HUMAN:KMT2D

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Species (Taxon ID) Homo sapiens (Human). (9606)
Gene Name(s) KMT2D (synonyms: ALR, MLL2, MLL4)
Protein Name(s) Histone-lysine N-methyltransferase 2D

Lysine N-methyltransferase 2D ALL1-related protein Myeloid/lymphoid or mixed-lineage leukemia protein 2

External Links
UniProt O14686
EMBL AF010403
AF010404
AC011603
CCDS CCDS44873.1
PIR T03454
T03455
RefSeq NP_003473.3
XP_005269219.1
XP_006719677.1
UniGene Hs.731384
PDB 3UVK
4ERQ
PDBsum 3UVK
4ERQ
ProteinModelPortal O14686
SMR O14686
BioGrid 113758
DIP DIP-37875N
IntAct O14686
MINT MINT-1192941
STRING 9606.ENSP00000301067
BindingDB O14686
ChEMBL CHEMBL2189114
PhosphoSite O14686
BioMuta KMT2D
MaxQB O14686
PaxDb O14686
PRIDE O14686
Ensembl ENST00000301067
GeneID 8085
KEGG hsa:8085
UCSC uc001rta.4
CTD 8085
GeneCards GC12M049413
GeneReviews KMT2D
HGNC HGNC:7133
HPA HPA035977
MIM 147920
602113
neXtProt NX_O14686
Orphanet 2322
PharmGKB PA30846
eggNOG COG2940
GeneTree ENSGT00760000119228
HOVERGEN HBG006738
InParanoid O14686
KO K09187
OMA PTQHSYT
OrthoDB EOG7N63KQ
PhylomeDB O14686
TreeFam TF354317
Reactome REACT_264178
REACT_264242
REACT_268728
GeneWiki MLL2
GenomeRNAi 8085
NextBio 30706
PRO PR:O14686
Proteomes UP000005640
Bgee O14686
CleanEx HS_MLL2
ExpressionAtlas O14686
Genevisible O14686
GO GO:0035097
GO:0005654
GO:0005634
GO:0003677
GO:0042800
GO:0044212
GO:0008270
GO:0006325
GO:0006342
GO:0051568
GO:0001701
GO:0001555
GO:0048477
GO:0008284
GO:0033148
GO:0045944
GO:0006355
GO:0043627
GO:0006351
Gene3D 3.30.40.10
InterPro IPR003889
IPR003888
IPR009071
IPR003616
IPR001214
IPR011011
IPR001965
IPR019787
IPR001841
IPR013083
Pfam PF05965
PF05964
PF00628
PF00856
SMART SM00542
SM00541
SM00398
SM00249
SM00508
SM00184
SM00317
SUPFAM SSF47095
SSF57903
PROSITE PS51543
PS51542
PS50868
PS50280
PS01359
PS50016
PS50089

Annotations

Qualifier GO ID GO term name Reference ECO ID ECO term name with/from Aspect Extension Notes Status
GO:0051568

histone H3-K4 methylation

PMID:26320581[1]

ECO:0000314

P

Figure 6e

complete
CACAO 11070

enables

GO:0000981

DNA-binding transcription factor activity, RNA polymerase II-specific

PMID:19274049[2]

ECO:0000255

match to sequence model evidence used in manual assertion

InterPro:IPR009071

F

Seeded From UniProt

complete

GO:0042800

histone methyltransferase activity (H3-K4 specific)

PMID:26320581[1]

ECO:0000314

F

Figure 6e

complete
CACAO 11073

part_of

GO:0044666

MLL3/4 complex

PMID:17500065[3]

ECO:0000314

direct assay evidence used in manual assertion

C

Seeded From UniProt

complete

GO:0044648

histone H3-K4 dimethylation

PMID:26320581[1]

ECO:0000314

P

Figure 6e

complete
CACAO 11074

involved_in

GO:0051568

histone H3-K4 methylation

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q6PDK2

P

Seeded From UniProt

complete

GO:0080182

histone H3-K4 trimethylation

PMID:26320581[1]

ECO:0000314

P

Figure 6e

complete
CACAO 11075

involved_in

GO:0051568

histone H3-K4 methylation

PMID:17178841[4]

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q6ZW49

P

Seeded From UniProt

complete

GO:0097692

histone H3-K4 monomethylation

PMID:26320581[1]

ECO:0000314

P

Figure 6e

complete
CACAO 11125

involved_in

GO:0048477

oogenesis

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q6PDK2

P

Seeded From UniProt

complete

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

PMID:16603732[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0044212

transcription regulatory region DNA binding

PMID:16603732[5]

ECO:0000314

direct assay evidence used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0043627

response to estrogen

PMID:16603732[5]

ECO:0000314

direct assay evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0033148

positive regulation of intracellular estrogen receptor signaling pathway

PMID:16603732[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0008284

positive regulation of cell population proliferation

PMID:16603732[5]

ECO:0000315

mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006355

regulation of transcription, DNA-templated

PMID:9247308[6]

ECO:0000303

author statement without traceable support used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0006342

chromatin silencing

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q6PDK2

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

PMID:9247308[6]

ECO:0000303

author statement without traceable support used in manual assertion

C

Seeded From UniProt

complete

enables

GO:0003677

DNA binding

PMID:9247308[6]

ECO:0000303

author statement without traceable support used in manual assertion

F

Seeded From UniProt

complete

involved_in

GO:0001555

oocyte growth

GO_REF:0000024

ECO:0000250

sequence similarity evidence used in manual assertion

UniProtKB:Q6PDK2

P

Seeded From UniProt

complete

involved_in

GO:0045944

positive regulation of transcription by RNA polymerase II

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0263667
PANTHER:PTN002505160
UniProtKB:O14686

P

Seeded From UniProt

complete

part_of

GO:0044666

MLL3/4 complex

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0023518
FB:FBgn0263667
PANTHER:PTN002505160
UniProtKB:O14686
UniProtKB:Q8NEZ4
WB:WBGene00011729

C

Seeded From UniProt

complete

enables

GO:0042800

histone methyltransferase activity (H3-K4 specific)

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0023518
PANTHER:PTN002505160
UniProtKB:Q8NEZ4
WB:WBGene00011729

F

Seeded From UniProt

complete

enables

GO:0042393

histone binding

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0263667
PANTHER:PTN002505160

F

Seeded From UniProt

complete

enables

GO:0003713

transcription coactivator activity

PMID:21873635[7]

ECO:0000318

biological aspect of ancestor evidence used in manual assertion

FB:FBgn0023518
PANTHER:PTN002505160

F

Seeded From UniProt

complete

part_of

GO:0035097

histone methyltransferase complex

PMID:14992727[8]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q9UBL3

C

Seeded From UniProt

complete

part_of

GO:0035097

histone methyltransferase complex

PMID:14992727[8]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:Q15291

C

Seeded From UniProt

complete

part_of

GO:0035097

histone methyltransferase complex

PMID:14992727[8]

ECO:0000353

physical interaction evidence used in manual assertion

UniProtKB:O00255

C

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR003888
InterPro:IPR003889

C

Seeded From UniProt

complete

part_of

GO:0035097

histone methyltransferase complex

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR037890

C

Seeded From UniProt

complete

enables

GO:0042800

histone methyltransferase activity (H3-K4 specific)

GO_REF:0000002

ECO:0000256

match to sequence model evidence used in automatic assertion

InterPro:IPR037890

F

Seeded From UniProt

complete

enables

GO:0018024

histone-lysine N-methyltransferase activity

GO_REF:0000003

ECO:0000501

evidence used in automatic assertion

EC:2.1.1.43

F

Seeded From UniProt

complete

involved_in

GO:1904837

beta-catenin-TCF complex assembly

Reactome:R-HSA-201722

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

involved_in

GO:0045652

regulation of megakaryocyte differentiation

Reactome:R-HSA-8936459

ECO:0000304

author statement supported by traceable reference used in manual assertion

P

Seeded From UniProt

complete

enables

GO:0042800

histone methyltransferase activity (H3-K4 specific)

Reactome:R-HSA-3364026

ECO:0000304

author statement supported by traceable reference used in manual assertion

F

Seeded From UniProt

complete

part_of

GO:0005654

nucleoplasm

Reactome:R-HSA-8937050
Reactome:R-HSA-8937037
Reactome:R-HSA-8937016
Reactome:R-HSA-8936979
Reactome:R-HSA-8936621
Reactome:R-HSA-8936616
Reactome:R-HSA-8936481
Reactome:R-HSA-8935740
Reactome:R-HSA-5637686
Reactome:R-HSA-5244692
Reactome:R-HSA-5159245
Reactome:R-HSA-3364042
Reactome:R-HSA-3364026
Reactome:R-HSA-3364014

ECO:0000304

author statement supported by traceable reference used in manual assertion














C

Seeded From UniProt

complete

enables

GO:0008168

methyltransferase activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0489

F

Seeded From UniProt

complete

involved_in

GO:0006325

chromatin organization

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0156

P

Seeded From UniProt

complete

part_of

GO:0005634

nucleus

GO_REF:0000037
GO_REF:0000039

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0539
UniProtKB-SubCell:SL-0191

C

Seeded From UniProt

complete

involved_in

GO:0032259

methylation

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0489

P

Seeded From UniProt

complete

enables

GO:0016740

transferase activity

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0808

F

Seeded From UniProt

complete

enables

GO:0046872

metal ion binding

GO_REF:0000037

ECO:0000322

imported manually asserted information used in automatic assertion

UniProtKB-KW:KW-0479

F

Seeded From UniProt

complete

edit table

Notes

References

See Help:References for how to manage references in GONUTS.

  1. ↑ 1.0 1.1 1.2 1.3 1.4 Zhang, Y et al. (2015) Evolving Catalytic Properties of the MLL Family SET Domain. Structure 23 1921-33 PubMed GONUTS page
  2. ↑ Vaquerizas, JM et al. (2009) A census of human transcription factors: function, expression and evolution. Nat. Rev. Genet. 10 252-63 PubMed GONUTS page
  3. ↑ Cho, YW et al. (2007) PTIP associates with MLL3- and MLL4-containing histone H3 lysine 4 methyltransferase complex. J. Biol. Chem. 282 20395-406 PubMed GONUTS page
  4. ↑ Issaeva, I et al. (2007) Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth. Mol. Cell. Biol. 27 1889-903 PubMed GONUTS page
  5. ↑ 5.0 5.1 5.2 5.3 5.4 Mo, R et al. (2006) Identification of the MLL2 complex as a coactivator for estrogen receptor alpha. J. Biol. Chem. 281 15714-20 PubMed GONUTS page
  6. ↑ 6.0 6.1 6.2 Prasad, R et al. (1997) Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax. Oncogene 15 549-60 PubMed GONUTS page
  7. ↑ 7.0 7.1 7.2 7.3 7.4 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page
  8. ↑ 8.0 8.1 8.2 Hughes, CM et al. (2004) Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus. Mol. Cell 13 587-97 PubMed GONUTS page
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