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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MLL4 Gene

protein-coding GIFtS: 53
GCID: GC19P036211

MLL4

Explore 10 diseases affiliated with
MLL4 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Lysine N-Methyltransferase 2B² ³		KIAA0304³ ⁵
Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 4² ³		KMT2D²
Trithorax Homolog 2² ³		WBP7²
HRX2² ³		Histone-Lysine N-Methyltransferase MLL4²
KMT2B² ³		Lysine N-Methyltransferase 2D²
MLL2² ³		Mixed Lineage Leukemia Gene Homolog 2²
TRX2² ³		Myeloid/Lymphoid Or Mixed-Lineage Leukemia 4²
WBP-7² ³		Trithorax Homologue 2²
WW Domain-Binding Protein 7² ³		WW Domain Binding Protein 7²
EC 2.1.1.43³ ⁸

External Ids:	Entrez Gene: 9757²	Ensembl: ENSG00000105663⁷	OMIM: 606834⁵	UniProtKB: Q9UMN6³

Export aliases for MLL4 gene to outside databases

Previous GC identifers: GC19P036657 GC19P040884 GC19P040900 GC19P036209 GC19P032713

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for MLL4:

This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two

FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a

conserved C-terminal domain that characterizes proteins of the MLL (mixed-lineage leukemia) family. This gene is

ubiquitously expressed in adult tissues. It is also amplified in solid tumor cell lines, and may be involved in human

cancer. Two alternatively spliced transcript variants encoding distinct isoforms have been reported for this gene,

however, the full length nature of the shorter transcript is not known. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: MLL4_HUMAN, Q9UMN6

Function: Histone methyltransferase. Methylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag

for epigenetic transcriptional activation. Plays a central role in beta-globin locus transcription regulation by being

recruited by NFE2. Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation

development. Required during the transcriptionally active period of oocyte growth for the establishment and/or

maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of

meiosis, oocyte survival and normal zygotic genome activation

Gene Wiki entry for MLL4

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000019.9 NC_018930.1 NT_011109.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MLL4 gene promoter:
GATA-3 CUTL1 AP-2gamma Tal-1beta E47 Roaz MZF-1 Ik-2 NF-kappaB1 c-Myc
Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids

Search SABiosciences Chromatin IP Primers for MLL4

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MLL4

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.1 Ensembl cytogenetic band: 19q13.12

MLL4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MLL4 gene location

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P036211: view genomic region (about GC identifiers)

Start:	36,208,921 bp from pter	End:	36,229,779 bp from pter
Size:	20,859 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MLL4_HUMAN, Q9UMN6 (See protein sequence)

Recommended Name: Histone-lysine N-methyltransferase MLL4

Size: 2715 amino acids; 293515 Da

Subunit: Component of the menin-associated histone methyltransferase complex, at least composed of MLL4/WBP7, ASH2L,

RBBP5, WDR5, DPY30, MEN1; the complex interacts with POLR2A and POLR2B via MEN1. Interacts with NFE2. Interacts with

KDM6B

Subcellular location: Nucleus (By similarity)

Caution: This protein was first named MLL2 by PubMed:10637508 and PubMed:10409430. MLL2 corresponds to another protein

located on chromosome 12 (see AC O14686). Thus, MLL4 is often referred to as MLL2 and vice versa in the literature

2 PDB 3D structures from and Proteopedia for MLL4:

3UVM (3D)

4ERZ (3D)

Secondary accessions: O15022 O95836 Q96GP2 Q96IP3 Q9UK25 Q9Y668 Q9Y669

Alternative splicing: 2 isoforms: Q9UMN6-1 Q9UMN6-2

Explore the universe of human proteins at neXtProt for MLL4: NX_Q9UMN6

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9UMN6

3 DME Specific Peptides for MLL4 (Q9UMN6)

EELTYDY

GIGCYMF

NHSCEPN

MLL4 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_055542.1

ENSEMBL proteins:

ENSP00000345761 ENSP00000222270 ENSP00000468005 ENSP00000467254 ENSP00000468147

ENSP00000398837

Human Recombinant Protein Products:

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	Uscn Proteins for MLL4

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	NAS	--
GO:0035097	histone methyltransferase complex	IDA	17500065

MLL4 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for MLL4

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MLL4 for domains About GeneDecksing

5/12 InterPro domains/families (see all 12):

IPR017956 AT_hook_DNA-bd_motif

IPR001214 SET_dom

IPR003889 FYrich_C

IPR016569 MeTrfase_trithorax

IPR001965 Znf_PHD

Graphical View of Domain Structure for InterPro Entry Q9UMN6

ProtoNet protein and cluster: Q9UMN6

5 Blocks protein families:

IPB001214 Nuclear protein SET

IPB001965 Zn-finger-like

IPB002857 Zn-finger

IPB003616 SET-related region

IPB003888 FY-rich domain

UniProtKB/Swiss-Prot: MLL4_HUMAN, Q9UMN6

Similarity: Belongs to the histone-lysine methyltransferase family. TRX/MLL subfamily

Similarity: Contains 3 A.T hook DNA-binding domains

Similarity: Contains 1 CXXC-type zinc finger

Similarity: Contains 1 FYR C-terminal domain

Similarity: Contains 1 FYR N-terminal domain

Similarity: Contains 3 PHD-type zinc fingers

Similarity: Contains 1 post-SET domain

Similarity: Contains 1 SET domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: MLL4_HUMAN, Q9UMN6

Function: Histone methyltransferase. Methylates 'Lys-4' of histone H3. H3 'Lys-4' methylation represents a specific tag

for epigenetic transcriptional activation. Plays a central role in beta-globin locus transcription regulation by being

recruited by NFE2. Plays an important role in controlling bulk H3K4me during oocyte growth and preimplantation

development. Required during the transcriptionally active period of oocyte growth for the establishment and/or

maintenance of bulk H3K4 trimethylation (H3K4me3), global transcriptional silencing that preceeds resumption of

meiosis, oocyte survival and normal zygotic genome activation

Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +

N(6)-methyl-L-lysine-[histone]

Enzyme Number (IUBMB): EC 2.1.1.43¹ ²

miRNA Products:		OriGene 3'-UTR Clone: MLL4 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MLL4
		8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate MLL4 (see all 23):
		hsa-miR-1224-3p hsa-miR-106a hsa-miR-1260b hsa-let-7a-2* hsa-miR-519a hsa-miR-3154 hsa-miR-93 hsa-let-7g*

		SwitchGear 3'UTR luciferase reporter plasmid: MLL4 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MLL4 (see all 4) OriGene shRNA RFP: MLL4 OriGene siRNA: MLL4
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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLL4

Gene Ontology (GO): 5 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0003700	sequence-specific DNA binding transcription factor activity	NAS	10409430
GO:0005515	protein binding	IPI	17474147
GO:0008270	zinc ion binding	NAS	--
GO:0042800	histone methyltransferase activity (H3-K4 specific)	IDA	17500065

MLL4 for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for MLL4:

Increased cell number in G2M,

Increased gamma-H2AX phosphory

Animal Models:
Mouse knock-outs for MLL4: Wbp7^tm1.2Afst Wbp7^tm1Afst
9 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Wbp7):

cellular	embryogenesis	endocrine/exocrine gland	growth/size	homeostasis/metabolism
mortality/aging	nervous system	normal	reproductive system

MLL4 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Lysine degradation

Lysine degradation

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Kegg Pathway (Kegg details for MLL4):

Lysine degradation

MLL4 for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MLL4

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/45 Interacting proteins for MLL4 (Q9UMN6^{1, 2, 3} ENSP00000222270⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 45)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ABL1	P00519²^,³, ENSP00000361423⁴	MINT-8110539 I2D: score=3 STRING: ENSP00000361423
ATXN1	P54253²^,³, ENSP00000244769⁴	MINT-2867463 I2D: score=3 STRING: ENSP00000244769
FYN	P06241²^,³, ENSP00000357656⁴	MINT-8111367 I2D: score=3 STRING: ENSP00000357656
NREP	Q16612²^,³, ENSP00000403383⁴	MINT-8249964 I2D: score=2 STRING: ENSP00000403383
SMN1	Q16637²^,³	MINT-8271300 I2D: score=2

About this table

Gene Ontology (GO): 5/10 biological process terms (GO ID links to tree view) (see all 10): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001541	ovarian follicle development	IEA	--
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0009994	oocyte differentiation	IEA	--
GO:0016458	gene silencing	IEA	--
GO:0030728	ovulation	IEA	--

MLL4 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MLL4
Search CenterWatch for drugs/clinical trials and news about MLL4

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MLL4 gene:

NM_014727.1

Unigene Clusters for MLL4:

Myeloid/lymphoid or mixed-lineage leukemia 4

Hs.92236 [show with all ESTs], Hs.676457

Unigene Representative Sequences: AJ007041, AF105279

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000341701 ENST00000222270 ENST00000592092 ENST00000585476 ENST00000586308

ENST00000420124(uc021usu.1 uc021usv.1)

miRNA Products:		OriGene 3'-UTR Clone: MLL4 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MLL4
		8/23 QIAGEN miScript miRNA Assays for microRNAs that regulate MLL4 (see all 23):
		hsa-miR-1224-3p hsa-miR-106a hsa-miR-1260b hsa-let-7a-2* hsa-miR-519a hsa-miR-3154 hsa-miR-93 hsa-let-7g*

		SwitchGear 3'UTR luciferase reporter plasmid: MLL4 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MLL4 (see all 4) OriGene shRNA RFP: MLL4 OriGene siRNA: MLL4
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat MLL4

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		GenScript: all cDNA clones in your preferred vector: MLL4 (NM_014727)
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Additional cDNA sequence: AF105279.1

7 DOTS entries:

DT.91813368 DT.100752190 DT.444864 DT.40131858 DT.102828417 DT.92021957 DT.100752192

24/436 AceView cDNA sequences (see all 436):

BM713215 BM851769 BG152857 BM930790 CA412737 AV682591 CF124998 AJ007041

CA433512 AB002302 AL044104 BU783750 F06418 BU849201 AI539429 BC007353

AI422717 CB118374 AF105279 AW204883 AA234185 BC008939 CA312649 BU074254

GeneLoc Exon Structure

5/10 Alternative Splicing Database (ASD) splice patterns (SP) for MLL4 (see all 10) About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7a	·	7b	^	8	^	9a	·	9b	^	10	^	11	^	12a	·	12b	^	13	^	14	^	15	^	16	^	17a	·	17b	^	18	^	19	^	20	^	21	^	22a	·
SP1:
SP2:
SP3:
SP4:
SP5:

ExUns:	22b	^	23	^	24	^	25a	·	25b	^	26	^	27a	·	27b	^	28a	·	28b	^	29	^	30	^	31a	·	31b
SP1:							-										-
SP2:
SP3:
SP4:																	-
SP5:

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MLL4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CAGGTGACAA

About this image
See MLL4 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MLL4

SOURCE GeneReport for Unigene clusters: Hs.92236 Hs.676457

UniProtKB/Swiss-Prot: MLL4_HUMAN, Q9UMN6

Tissue specificity: Widely expressed. Highest levels in testis. Also found in brain, bone marrow, heart, muscle,

kidney, placenta, spleen, thymus, prostate, ovary, intestine, colon, peripheral blood lymphocytes and pancreas. Often

amplified in pancreatic carcinomas

SABiosciences Expression via Pathway-Focused PCR Array including MLL4:

Polycomb & Trithorax Complexes in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLL4

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for MLL4 gene from 6/22 species (see all 22) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
lizard (Anolis carolinensis)	Reptilia	--	--	50(a)	1 ↔ 1	GL343276.1(1487877-1523466)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.7192²	Transcribed sequence with weak similarity to protein more	76.69(n)		AL859437.2
zebrafish (Danio rerio)	Actinopterygii	mll4a⁶ mll4b⁶	myeloid/lymphoid or mixed-lineage leukemia 4b	30(a) 26(a)	1 ↔ many 1 ↔ many	19(9855212-9897776) 15(36155425-36242250)
fruit fly (Drosophila melanogaster)	Insecta	trx³	positive regulation of transcription by homeotic more	47(a)		3 88B1 --
thale cress (Arabidopsis thaliana)	eudicotyledons	SDG29⁶ SDG27⁶ (see all 5)	histone-lysine N-methyltransferase ATX1 (see all 5)	11(a) 11(a) (see all 5)	many ↔ many possible ortholog (see all 5)	5(21677146-21683494) 2(13455272-13462181)
rice (Oryza sativa)	Liliopsida	-- -- (see all 3)	histone-lysine N-methyltransferase ATX5, putative,... histone-lysine N-methyltransferase, H3 lysine-4 sp... (see all 3)	9(a) 11(a) (see all 3)	many ↔ many possible ortholog (see all 3)	1(6506356-6513891) 9(2600650-2614934)

ENSEMBL Gene Tree for MLL4 (if available)
TreeFam Gene Tree for MLL4 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MLL4 gene

MLL2² MLL² SETD1B² MLL3² SETD1A²

3 SIMAP similar genes for MLL4 using alignment to 3 protein entries: K7EP72_HUMAN (see all proteins):

DKFZp686C08112 MLL2 SUV39H2

MLL4 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs2234371^1,2	C,F,	--	36206986(+)	`AGTTGG/ACGCTG`	2	--	us2k¹ int¹ tfbs³		8		NA CSA WA EA	368
rs201490110^1,2		--	36206987(+)	`GTTGGA/CGCTGG`	2	--	int¹ us2k¹		0	--	--	--	--
rs199720480^1,2		--	36207231(+)	`TGTCGC/GCTTTC`	2	--	int¹ us2k¹		0	--	--	--	--
rs201608304^1,2		--	36207248(+)	`ACTCCA/GCTCCT`	2	--	int¹ us2k¹		0	--	--	--	--
rs187428056^1,2		--	36207251(+)	`CCGCTA/CCTGAG`	2	--	us2k¹ int¹		0	--	--	--	--
rs2234375^1,2	C,F,	--	36207336(+)	`TCGCCG/CCCTTC`	2	--	us2k¹ int¹		5		WA NA EA EU	953
rs142256633^1,2	C,F	--	36207652(+)	`CCACCT/AGACGG`	3	/R /*	us2k¹ stop-lost		2		NA EU	5653
rs2234376^1,2	C,F,H,	--	36207704(+)	`AAAAGC/TGGGCC`	2	--	ut3¹ us2k¹		5		EA NS NA	512
rs145598634^1,2		--	36207780(+)	`AGGAAA/GGGCGC`	2	--	ut3¹ us2k¹		0	--	--	--	--
rs73048513^1,2	C,F,	--	36207893(+)	`GGAGAT/CTGTCG`	2	--	ut3¹ us2k¹		1		NA	120

HapMap Linkage Disequilibrium report for MLL4 (36208921 - 36229779 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for MLL4
1 CNV: 50138

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

MLL4 for disorders           About GeneDecksing

OMIM gene information: 606834    OMIM disorders: --

10 diseases for MLL4:    About MalaCards

leukemia hepatitis b homocysteine hepatocellular carcinoma

pancreatic carcinoma pancreatitis ataxia hepatitis

carcinoma prostatitis

Export disorders for MLL4 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for MLL4 gene, integrated from 9 sources (see all 43):
(articles sorted by number of sources associating them with MLL4)

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world of online information

MLL2, the second human homolog of the Drosophila trithorax gene, maps to 19q13.1 and is amplified in solid tumor cell lines. (PubMed id 10637508)^{1, 2, 9} Huntsman D.G.... Caldas C. (1999)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
The DNA sequence and biology of human chromosome 19. (PubMed id 15057824)^{1, 2} Grimwood J.... Lucas S.M. (2004)
MLL2: a new mammalian member of the trx/MLL family of genes. (PubMed id 10409430)^{1, 2} FitzGerald K.T. and Diaz M.O. (1999)
Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9205841)^{1, 2} Nagase T.... Ohara O. (1997)
Structural basis for WDR5 interaction (Win) motif reco gnition in human SET1 family histone methyltransferases. (PubMed id 22665483)¹ Dharmarajan V....Cosgrove M.S. (2012)
Mixed lineage leukaemia-4 regulates cell-cycle progres sion and cell viability and its depletion suppresses growth of xenografted tumou r in vivo. (PubMed id 22713656)¹ Ansari K.I....Mandal S.S. (2012)
Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)¹ Lin Y.Y....Boeke J.D. (2012)
The plasticity of WDR5 peptide-binding cleft enables t he binding of the SET1 family of histone methyltransferases. (PubMed id 22266653)¹ Zhang P....Couture J.F. (2012)
Histone demethylase JMJD2B coordinates H3K4/H3K9 meth ylation and promotes hormonally responsive breast carcinogenesis. (PubMed id 21502505)¹ Shi L....Shang Y. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 9757

AceView: MLL4andF25965andPEN2

Ensembl:ENSG00000105663

euGenes: HUgn9757

Kegg: 9757

(According to HUGE)
About This Section

HUGE: KIAA0304

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Intellectual Property for MLL4 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for MLL4 gene:
Search GeneIP for patents involving MLL4

GeneCards and IP:
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MLL4 (Gene Symbol)
Lysine N-Methyltransferase 2B
Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 4
Trithorax Homolog 2
HRX2
KMT2B
MLL2
TRX2
WBP-7
WW Domain-Binding Protein 7
EC 2.1.1.43
KIAA0304
KMT2D
WBP7
Histone-Lysine N-Methyltransferase MLL4
Lysine N-Methyltransferase 2D
Mixed Lineage Leukemia Gene Homolog 2
Myeloid/Lymphoid Or Mixed-Lineage Leukemia 4
Trithorax Homologue 2
WW Domain Binding Protein 7

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