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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MLL3 Gene

protein-coding GIFtS: 61
GCID: GC07M151832

myeloid/lymphoid or mixed-lineage leukemia 3

Explore 7 diseases affiliated with
MLL3 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
Myeloid/Lymphoid Or Mixed-Lineage Leukemia 3¹ ²		Myeloid/Lymphoid Or Mixed-Lineage Leukemia Protein 3² ³
HALR¹ ² ³		EC 2.1.1.43³ ⁸
KMT2C¹ ² ³		ALR-Like Protein²
KIAA1506¹ ³ ⁵		Histone-Lysine N-Methyltransferase MLL3²
Homologous To ALR Protein² ³		Histone-Lysine N-Methyltransferase, H3 Lysine-4 Specific²
Lysine N-Methyltransferase 2C² ³

External Ids:	HGNC: 13726¹	Entrez Gene: 58508²	Ensembl: ENSG00000055609⁷	OMIM: 606833⁵	UniProtKB: Q8NEZ4³

Export aliases for MLL3 gene to outside databases

Previous GC identifers: GC07M150080 GC07M151146 GC07M151225 GC07M151223 GC07M151271 GC07M151462

(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 MLL3:

This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a nuclear protein with

an AT hook DNA-binding domain, a DHHC-type zinc finger, six PHD-type zinc fingers, a SET domain, a post-SET domain and

a RING-type zinc finger. This protein is a member of the ASC-2/NCOA6 complex (ASCOM), which possesses histone

methylation activity and is involved in transcriptional coactivation. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: MLL3_HUMAN, Q8NEZ4

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

for epigenetic transcriptional activation. Central component of the MLL2/3 complex, a coactivator complex of nuclear

receptors, involved in transcriptional coactivation. MLL3 may be a catalytic subunit of this complex. May be involved

in leukemogenesis and developmental disorder

Gene Wiki entry for MLL3

(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_000007.13 NC_018918.1 NT_007914.15 NT_079596.2

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MLL3 gene promoter:
HOXA9B HOXA9 HTF AP-4 Meis-1b POU2F1 POU2F1a POU2F1b POU2F1c Meis-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 8): MLL3 promoter sequence

Search SABiosciences Chromatin IP Primers for MLL3

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MLL3

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

Entrez Gene cytogenetic band: 7q36.1 Ensembl cytogenetic band: 7q36.1 HGNC cytogenetic band: 7q36

MLL3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MLL3 gene location

GeneLoc information about chromosome 7 GeneLoc Exon Structure

GeneLoc location for GC07M151832: view genomic region (about GC identifiers)

Start:	151,832,010 bp from pter	End:	152,133,090 bp from pter
Size:	301,081 bases	Orientation:	minus strand

1 alternative location:

Chr7-,CRA_TCAG 151,159,181-151,460,261

(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: MLL3_HUMAN, Q8NEZ4 (See protein sequence)

Recommended Name: Histone-lysine N-methyltransferase MLL3

Size: 4911 amino acids; 541370 Da

Subunit: Component of the MLL2/3 complex (also named ASCOM complex), at least composed of MLL2/ALR or MLL3, ASH2L,

RBBP5, WDR5, NCOA6, DPY30, KDM6A, PAXIP1/PTIP, PAGR1 and alpha- and beta-tubulin. Interacts with histone H3

Subcellular location: Nucleus (Probable)

Miscellaneous: Found in a critical region of chromosome 7, which is commonly deleted in malignant myeloid disorders.

Partial duplication of the MLL3 gene are found in the juxtacentromeric region of chromosomes 1, 2, 13 and 21.

Juxtacentromeric reshuffling of the MLL3 gene has generated the BAGE genes

4 PDB 3D structures from and Proteopedia for MLL3:

2YSM (3D)

2YUK (3D)

3UVL (3D)

4ERY (3D)

Secondary accessions: Q8NC02 Q8NDF6 Q9H9P4 Q9NR13 Q9P222 Q9UDR7

Alternative splicing: 3 isoforms: Q8NEZ4-1 Q8NEZ4-2 Q8NEZ4-3 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MLL3: NX_Q8NEZ4

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q8NEZ4

4 DME Specific Peptides for MLL3 (Q8NEZ4)

TGCARSE

ELKVTVK

WVHLNCALWS

PYSKQFVHSKSSQY

MLL3 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_733751.2

ENSEMBL proteins:

ENSP00000353218 ENSP00000453752 ENSP00000262189 ENSP00000410411 ENSP00000408001

ENSP00000454058 ENSP00000403483 ENSP00000410239 ENSP00000347325 ENSP00000439909

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	Browse ProSpec Recombinant Proteins
	Uscn Proteins for MLL3

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	IDA	17500065
GO:0035097	histone methyltransferase complex	IDA	17500065

MLL3 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for MLL3

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

MLL3 for domains About GeneDecksing

5/14 InterPro domains/families (see all 14):

IPR001594 Znf_DHHC_palmitoyltrfase

IPR017956 AT_hook_DNA-bd_motif

IPR001214 SET_dom

IPR001841 Znf_RING

IPR003889 FYrich_C

Graphical View of Domain Structure for InterPro Entry Q8NEZ4

ProtoNet protein and cluster: Q8NEZ4

3 Blocks protein families:

IPB001214 Nuclear protein SET

IPB001594 Zn-finger

IPB001841 Zn-finger

UniProtKB/Swiss-Prot: MLL3_HUMAN, Q8NEZ4

Domain: The SET domain interacts with histone H3 but not H2A, H2B and H4, and may have a H3 lysine specific methylation

activity

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

Similarity: Contains 1 A.T hook DNA-binding domain

Similarity: Contains 1 DHHC-type zinc finger

Similarity: Contains 1 FYR C-terminal domain

Similarity: Contains 1 FYR N-terminal domain

Similarity: Contains 6 PHD-type zinc fingers

Similarity: Contains 1 post-SET domain

Similarity: Contains 1 RING-type zinc finger

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: MLL3_HUMAN, Q8NEZ4

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

for epigenetic transcriptional activation. Central component of the MLL2/3 complex, a coactivator complex of nuclear

receptors, involved in transcriptional coactivation. MLL3 may be a catalytic subunit of this complex. May be involved

in leukemogenesis and developmental disorder

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

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MLL3
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		hsa-miR-194* hsa-miR-576-3p hsa-miR-106a hsa-miR-128 hsa-miR-1273d hsa-miR-200b hsa-miR-130b hsa-miR-490-5p

		SwitchGear 3'UTR luciferase reporter plasmid: MLL3 3' UTR sequence

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLL3

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:0005515	protein binding	IPI	17021013
GO:0008168	methyltransferase activity	--	--
GO:0008270	zinc ion binding	IEA	--
GO:0042800	histone methyltransferase activity (H3-K4 specific)	IDA	17500065

MLL3 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out Mll3^tm1.1Jwle for MLL3
     6 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Mll3):

cellular	growth/size	mortality/aging	no phenotypic analysis	reproductive system
vision/eye

MLL3 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 MLL3):

Lysine degradation

MLL3 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for MLL3

STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

5/31 Interacting proteins for MLL3 (Q8NEZ4^{1, 2, 3} ENSP00000262189⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 31)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HIST2H3C	Q71DI3³, ENSP00000358154⁴	I2D: score=1 STRING: ENSP00000358154
HIST2H3A	Q71DI3³	I2D: score=1
HIST2H3D	Q71DI3³	I2D: score=1
NCOA6	Q14686¹^,³, ENSP00000351894⁴	EBI-1042997,EBI-78670 I2D: score=1 STRING: ENSP00000351894
H3F3A	P84243³, ENSP00000355778⁴	I2D: score=1 STRING: ENSP00000355778

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	IEA	--
GO:0016571	histone methylation	--	--
GO:0035556	intracellular signal transduction	IEA	--
GO:0051568	histone H3-K4 methylation	IDA	17500065

MLL3 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 MLL3

2 HMDB Compounds for MLL3 About this table

Compound	Synonyms	CAS #	PubMed Ids
L-Lysine	(+)-S-Lysine (see all 25)	56-87-1	--
S-Adenosylmethionine	(3S)-5'-[(3-amino-3-carboxypropyl)methylsulfonio]-5'-deoxyadenosine (see all 16)	29908-03-0	--

Search CenterWatch for drugs/clinical trials and news about MLL3

(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 MLL3 gene (2 alternative transcripts):

NM_170606.2 NM_021230.2

Unigene Cluster for MLL3:

Myeloid/lymphoid or mixed-lineage leukemia 3

Hs.647120 [show with all ESTs]

Unigene Representative Sequence: NM_170606

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

ENST00000360104(uc003wky.3) ENST00000558084 ENST00000262189(uc003wla.3)

ENST00000424877 ENST00000473186 ENST00000485241 ENST00000418061 ENST00000558665

ENST00000489110 ENST00000418673 ENST00000490130 ENST00000452749 ENST00000355193(uc003wkx.3 uc003wkz.3)

ENST00000485655

miRNA Products:		OriGene 3'-UTR Clone: MLL3 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat MLL3
		8/145 QIAGEN miScript miRNA Assays for microRNAs that regulate MLL3 (see all 145):
		hsa-miR-194* hsa-miR-576-3p hsa-miR-106a hsa-miR-128 hsa-miR-1273d hsa-miR-200b hsa-miR-130b hsa-miR-490-5p

		SwitchGear 3'UTR luciferase reporter plasmid: MLL3 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 MLL3 (see all 4) OriGene shRNA RFP: MLL3 OriGene siRNA: MLL3
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Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for MLL3 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for MLL3 OriGene custom cloning services � gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector: MLL3 (NM_170606)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for MLL3
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MLL3

Additional cDNA sequence:

AB040939.2 AF264750.2 AK022687.1 AK025553.1 AK025911.1 AK075113.1 AK095628.1 AL833924.1

AY024361.1 BC011921.2 BC151837.1 L37701.1 Y08836.1

24/26 DOTS entries (see all 26):

DT.97847767 DT.95103217 DT.100026463 DT.100778031 DT.95266799 DT.121049396 DT.202872 DT.95360250

DT.75105674 DT.91667202 DT.97858133 DT.121049363 DT.121049386 DT.121049395 DT.121049467 DT.121049474

DT.40106284 DT.75167662 DT.91716434 DT.91881889 DT.121049448 DT.207110 DT.40125873 DT.91917762

24/366 AceView cDNA sequences (see all 366):

BM702778 BU729354 CD513584 AA595504 BG059617 AW864964 AI473663 AV723842

AI540051 AI247296 AA234595 AA629736 CB178817 AI370312 AI739379 AY024361

AA599219 AL833924 AI681382 BX280607 BX645616 AA904722 AI214982 BX952086

GeneLoc Exon Structure

(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

MLL3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ATGTATTTTT

About this image

MLL3 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

4 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Limb

Limb Bud

Limb Bud Mesenchyme Cells

Mesoderm

Heart

Atrioventricular Canal

Atrioventricular Canal Cells

Myocardium

Testis

Heart

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See MLL3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MLL3

SOURCE GeneReport for Unigene cluster: Hs.647120

UniProtKB/Swiss-Prot: MLL3_HUMAN, Q8NEZ4

Tissue specificity: Highly expressed in testis and ovary, followed by brain and liver. Also expressed in placenta,

peripherical blood, fetal thymus, heart, lung and kidney. Within brain, expression was highest in hippocampus, caudate

nucleus, and substantia nigra. Not detected in skeletal muscle and fetal liver

SABiosciences Expression via Pathway-Focused PCR Arrays including MLL3:

Epigenetic Chromatin Modification Enzymes in human mouse rat

Polycomb & Trithorax Complexes in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat MLL3

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MLL3

(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 MLL3 gene from 8/21 species (see all 21) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	MLL3¹	myeloid/lymphoid or mixed-lineage leukemia 3	75.4(n) 75.63(a)		420437 XM_418542.3 XP_418542.3
lizard (Anolis carolinensis)	Reptilia	MLL3⁶	--	68(a)	1 ↔ 1	6(4259531-4402658)
tropical clawed frog (Xenopus tropicalis)	Amphibia	Str.11992²	Transcribed sequence with strong similarity to protein more	84.21(n)		BX745905.1
zebrafish (Danio rerio)	Actinopterygii	Dr.18611²	Transcribed sequence with moderate similarity to protein more	73.12(n)		BQ449912.1
fruit fly (Drosophila melanogaster)	Insecta	trr³	eye morphogenesis (sensu Drosophila) DNA binding	53(a)		2B14 --
worm (Caenorhabditis elegans)	Secernentea	set-16⁶	--	22(a)	1 → many	III(13643817-13656684)
thale cress (Arabidopsis thaliana)	eudicotyledons	SDG29⁶ ATX4⁶ (see all 5)	histone-lysine N-methyltransferase ATX4 (see all 5)	9(a) 9(a) (see all 5)	many ↔ many many ↔ many (see all 5)	5(21677146-21683494) 4(13894694-13900474)
rice (Oryza sativa)	Liliopsida	-- -- (see all 3)	SET domain containing protein, expressed histone-lysine N-methyltransferase ATX5, putative,... (see all 3)	9(a) 9(a) (see all 3)	many ↔ many many ↔ many (see all 3)	1(26590911-26598590) 1(6506356-6513891)

ENSEMBL Gene Tree for MLL3 (if available)
TreeFam Gene Tree for MLL3 (if available)

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

Paralogs for MLL3 gene

MLL2² MLL4² MLL² SETD1B² SETD1A²

2 SIMAP similar genes for MLL3 using alignment to 10 protein entries: MLL3_HUMAN (see all proteins):

DKFZp686C08112 MLL2

MLL3 for paralogs About GeneDecksing

3 Pseudogenes.org Pseudogenes for MLL3
PGOHUM00000244981 PGOHUM00000250157 PGOHUM00000240175

(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 7 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs181821585^1,2		--	151831559(+)	`TTCTGA/GGCAGT`	1	--	ds500¹		0	--	--	--	--
rs185403144^1,2		--	151831576(+)	`CTTAAA/CCCCTT`	1	--	ds500¹		0	--	--	--	--
rs143678525^1,2		--	151831594(+)	`AATACA/GTTAAA`	1	--	ds500¹		0	--	--	--	--
rs28644349^1,2	C,F	--	151831673(+)	`AAAAAC/AAAAAA`	1	--	ds500¹		2		NA	4
rs59868883^1,2	C	--	151831673(+)	`AAAAAC/-AAAAA`	1	--	ds500¹		1		NA	2
rs58198556^1,2	F,	--	151831715(+)	`CCAATT/CAAACA`	1	--	ds500¹		1		WA	118
rs189657311^1,2		--	151831729(+)	`ACAGGA/CTTTGA`	1	--	ds500¹		0	--	--	--	--
rs141006362^1,2		--	151831741(+)	`CAAGGA/CACCAA`	1	--	ds500¹		0	--	--	--	--
rs77014940^1,2	C	--	151831786(+)	`TACAGA/GAGTTC`	1	--	ds500¹		0	--	--	--	--
rs77782142^1,2	C	--	151831789(+)	`AGAAGG/TTCCCT`	1	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for MLL3 (151832010 - 152082010 bp, first 250kb of MLL3)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 34 variations for MLL3
15/32 CNVs (see all 32): 100173 70082 94970 82265 94966 94965 82269 94969 64985 70084 94972 31401 82266 52157 22675
2 Indels: 100172 47269
Human Gene Mutation Database (HGMD): MLL3

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

MLL3 for disorders           About GeneDecksing

OMIM gene information: 606833    OMIM disorders: --

7 diseases for MLL3:    About MalaCards

leukemia homocysteine colorectal cancer breast cancer

carcinoma bipolar disorder schizophrenia

2 Novoseek disease relationships for MLL3 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
leukemia	37.8	7	11718452 (2), 18082152 (1), 11891048 (1)
cancer	0	1	11718452 (1)

Human Genome Epidemiology (HuGE) Navigator: MLL3 (6 documents)

Export disorders for MLL3 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 MLL3 gene, integrated from 9 sources (see all 55):
(articles sorted by number of sources associating them with MLL3)

Utopia: connect your pdf to the dynamic
world of online information

Prediction of the coding sequences of unidentified human genes. XVII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10819331)^{1, 2, 3} Nagase T.... Ohara O. (2000)
Novel human HALR (MLL3) gene encodes a protein homologous to ALR and to ALL-1 involved in leukemia, and maps to chromosome 7q36 associated with leukemia and developmental defects. (PubMed id 11718452)^{1, 2, 9} Tan Y.C. and Chow V.T. (2001)
MLL3, a new human member of the TRX/MLL gene family, maps to 7q36, a chromosome region frequently deleted in myeloid leukaemia. (PubMed id 11891048)^{1, 2, 9} Ruault M.... De Sario A. (2002)
Activating signal cointegrator 2 belongs to a novel steady-state complex that contains a subset of trithorax group proteins. (PubMed id 12482968)^{1, 2, 9} Goo Y.-H....Lee J.W. (2003)
PTIP Associates with MLL3- and MLL4-containing Histone H3 Lysine 4 Methyltransferase Complex. (PubMed id 17500065)^{1, 2} Cho Y.W.... Ge K. (2007)
Coactivator as a target gene specificity determinant for histone H3 lysine 4 methyltransferases. (PubMed id 17021013)^{1, 2} Lee S....Lee J.W. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
The DNA sequence of human chromosome 7. (PubMed id 12853948)^{1, 2} Hillier L.W.... Wilson R.K. (2003)
Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)^{1, 2} Nakajima D.... Nagase T. (2002)
Crucial roles for interactions between MLL3/4 and INI1 in nuclear receptor transactivation. (PubMed id 19221051)^{1, 9} Lee S....Lee J.W. (2009)

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

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 58508	HGNC: 13726	AceView: MLL3	Ensembl:ENSG00000055609	euGenes: HUgn58508
ECgene: MLL3	Kegg: 58508	H-InvDB: MLL3

(According to HUGE)
About This Section

HUGE: KIAA1506

(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

Name	Description
PharmGKB entry for MLL3	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for MLL3	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for MLL3 gene
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Patent Information for MLL3 gene:
Search GeneIP for patents involving MLL3

GeneCards and IP:
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