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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RUNX1T1 Gene

protein-coding GIFtS: 56
GCID: GC08M092971

runt-related transcription factor 1; translocated to, 1...

(Previous names: core-binding factor, runt domain, alpha subunit 2; translocated...)
(Previous symbols: AML1T1, CBFA2T1)

Explore 22 diseases affiliated with
RUNX1T1 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
Runt-Related Transcription Factor 1; Translocated To, 1 (Cyclin D-Related)¹ ²		Eight Twenty One Protein² ³
AML1T1¹ ² ³ ⁵		Zinc Finger MYND Domain-Containing Protein 2² ³
CBFA2T1¹ ² ³ ⁵		Acute Myelogenous Leukemia 1 Translocation 1, Cyclin-D Related²
ETO¹ ² ³ ⁵		Myeloid Translocation Gene On 8q22²
CDR¹ ² ³		Protein CBFA2T1²
MTG8¹ ² ³		Cyclin-D-Related Protein³
ZMYND2¹ ² ³		Protein ETO³
Core-Binding Factor, Runt Domain, Alpha Subunit 2; Translocated To, 1; Cyclin D-Related¹ ²		Protein MTG8³

External Ids:	HGNC: 1535¹	Entrez Gene: 862²	Ensembl: ENSG00000079102⁷	OMIM: 133435⁵	UniProtKB: Q06455³

Export aliases for RUNX1T1 gene to outside databases

Previous GC identifers: GC08M093041 GC08M088178

(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 RUNX1T1:

This gene encodes a member of the myeloid translocation gene family which interact with DNA-bound transcription factors

and recruit a range of corepressors to facilitate transcriptional repression. The t(8;21)(q22;q22) translocation is

one of the most frequent karyotypic abnormalities in acute myeloid leukemia. The translocation produces a chimeric

gene made up of the 5'-region of the runt-related transcription factor 1 gene fused to the 3'-region of this gene. The

chimeric protein is thought to associate with the nuclear corepressor/histone deacetylase complex to block

hematopoietic differentiation. Alternative splicing results in multiple transcript variants. (provided by RefSeq, Nov

2010)

UniProtKB/Swiss-Prot: MTG8_HUMAN, Q06455

Function: Transcription regulator that excerts its function by binding to histone deacetylases and transcription

factors. Can repress transactivation mediated by TCF12

Gene Wiki entry for RUNX1T1

(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_000008.10 NC_018919.1 NT_008046.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RUNX1T1 gene promoter:
AML1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RUNX1T1 promoter sequence

Search SABiosciences Chromatin IP Primers for RUNX1T1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RUNX1T1

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

Entrez Gene cytogenetic band: 8q22 Ensembl cytogenetic band: 8q21.3 HGNC cytogenetic band: 8q22

RUNX1T1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RUNX1T1 gene location

GeneLoc information about chromosome 8 GeneLoc Exon Structure

GeneLoc location for GC08M092971: view genomic region (about GC identifiers)

Start:	92,967,203 bp from pter	End:	93,115,514 bp from pter
Size:	148,312 bases	Orientation:	minus 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: MTG8_HUMAN, Q06455 (See protein sequence)

Recommended Name: Protein CBFA2T1

Size: 604 amino acids; 67566 Da

Subunit: Homotetramer. Heterotetramer with CBFA2T2 and CBFA2T3. Interacts with TCF12, SIN3A, HDAC1, HDAC2, HDAC3, NCOR1

and NCOR2. Interacts with ATN1 (via its N-terminus); the interaction enhances the transcriptional repression

Subcellular location: Nucleus. Note=Colocalizes with ATN1 in discrete nuclear dots

Sequence caution: Sequence=AAH05850.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

Sequence=BAA03247.1; Type=Erroneous initiation; Note=Translation N-terminally extended;

6/8 PDB 3D structures from and Proteopedia for RUNX1T1 (see all 8):

1WQ6 (3D)

2DJ8 (3D)

2H7B (3D)

2KNH (3D)

2KYG (3D)

2OD1 (3D)

Secondary accessions: B7Z4P4 E7EPN4 O14784 Q06456 Q14873 Q16239 Q16346 Q16347 Q6IBL1 Q6NXH1 Q7Z4J5

Q92479 Q9BRZ0

Alternative splicing: 4 isoforms: Q06455-1 Q06455-2 Q06455-3 Q06455-4

Explore the universe of human proteins at neXtProt for RUNX1T1: NX_Q06455

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q06455

RUNX1T1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (15 alternative transcripts):

NP_001185554.1 NP_001185555.1 NP_001185556.1 NP_001185557.1 NP_001185558.1 NP_001185559.1 NP_001185560.1 NP_001185561.1

NP_001185562.1 NP_001185563.1 NP_001185608.1 NP_004340.1 NP_783552.1 NP_783553.1 NP_783554.1

ENSEMBL proteins:

ENSP00000428543 ENSP00000379520 ENSP00000353504 ENSP00000390137 ENSP00000428742

ENSP00000430728 ENSP00000430778 ENSP00000429085 ENSP00000430863 ENSP00000429728

ENSP00000431094 ENSP00000427763 ENSP00000430204 ENSP00000429940 ENSP00000429532

ENSP00000429506 ENSP00000430637 ENSP00000428100 ENSP00000429137 ENSP00000430070

ENSP00000429118 ENSP00000430084 ENSP00000428475 ENSP00000429653 ENSP00000429062

ENSP00000429666 ENSP00000429587 ENSP00000429034 ENSP00000429375 ENSP00000429864

ENSP00000428297 ENSP00000430080 ENSP00000430334 ENSP00000429857 ENSP00000428408

ENSP00000428133 ENSP00000402257 ENSP00000265814

Human Recombinant Protein Products for RUNX1T1:

	Browse Purified and Recombinant Proteins at EMD Millipore
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	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Proteins (see all 2): RUNX1T1 OriGene Protein Over-expression Lysate (see all 4): RUNX1T1 OriGene Custom Protein Services for RUNX1T1
	GenScript Custom Purified and Recombinant Proteins Services for RUNX1T1
	Novus Biologicals RUNX1T1 Proteins Novus Biologicals RUNX1T1 Lysates
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Uscn Proteins for RUNX1T1

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	--	--
GO:0016363	nuclear matrix	IDA	10973986

RUNX1T1 for ontologies About GeneDecksing

RUNX1T1 Antibody Products:

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	GenScript Custom Superior Antibodies Services for RUNX1T1
	Novus Biologicals RUNX1T1 Antibodies
	Abcam antibodies for RUNX1T1
	Uscn Antibodies for RUNX1T1
	Search ThermoFisher Antibodies for RUNX1T1

Assay Products for RUNX1T1:

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for RUNX1T1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for RUNX1T1

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

RUNX1T1 for domains About GeneDecksing

5 InterPro domains/families:

IPR002893 Znf_MYND

IPR014896 NHR2

IPR013290 MTG8

IPR013289 ETO

IPR003894 TAFH_NHR1

Graphical View of Domain Structure for InterPro Entry Q06455

ProtoNet protein and cluster: Q06455

2 Blocks protein families:

IPB002893 Zn-finger

IPB003894 TAF-like region

UniProtKB/Swiss-Prot: MTG8_HUMAN, Q06455

Domain: The TAFH domain mediates interaction with transcription regulators

Similarity: Belongs to the CBFA2T family

Similarity: Contains 1 MYND-type zinc finger

Similarity: Contains 1 TAFH (NHR1) domain

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

Molecular Function:

UniProtKB/Swiss-Prot Summary: MTG8_HUMAN, Q06455

Function: Transcription regulator that excerts its function by binding to histone deacetylases and transcription

factors. Can repress transactivation mediated by TCF12

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): 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	IEA	--
GO:0005515	protein binding	IPI	12874834
GO:0008270	zinc ion binding	IEA	--
GO:0042802	identical protein binding	IPI	16616331

RUNX1T1 for ontologies About GeneDecksing

Phenotypes:
1 GenomeRNAi human phenotype for RUNX1T1:

Increased G2M DNA content

8 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Runx1t1):

behavior/neurological	cardiovascular system	digestive/alimentary	growth/size	integument
mortality/aging	normal	reproductive system

RUNX1T1 for phenotypes About GeneDecksing

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for RUNX1T1

miRNA Products:		OriGene 3'-UTR Clone (see all 4): RUNX1T1 Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RUNX1T1
		8/285 QIAGEN miScript miRNA Assays for microRNAs that regulate RUNX1T1 (see all 285):
		hsa-miR-579 hsa-miR-193a-3p hsa-miR-146a hsa-miR-605 hsa-miR-502-3p hsa-miR-3916 hsa-miR-3162-5p hsa-miR-1273d

		SwitchGear 3'UTR luciferase reporter plasmid: RUNX1T1 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 RUNX1T1 (see all 7) OriGene shRNA RFP: RUNX1T1 OriGene siRNA: RUNX1T1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat RUNX1T1
		Sirion Biotech Custom design and validation of potent shRNA sequences against RUNX1T1

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for RUNX1T1
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Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RUNX1T1 (see all 11) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RUNX1T1 (see all 5) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 15): RUNX1T1 (NM_004349)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for RUNX1T1
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RUNX1T1

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for RUNX1T1
		Search LifeMap BioReagents cell lines for RUNX1T1
		Sirion Biotech Customized stable knockdown cell line services for RUNX1T1 Sirion Biotech Customized inducible knockdown cell line services for RUNX1T1 Sirion Biotech Customized stable overexpressing cell line services for RUNX1T1 Sirion Biotech Customized inducible overexpressing cell line services for RUNX1T1

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RUNX1T1

(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

Lymphocyte Signaling

Lymphocyte Signaling

1.00

Pathways in cancer

Pathways in cancer

1.00

Endometrial cancer

Acute myeloid leukemia

0.39

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Cell Signaling Technology (CST) Pathway for RUNX1T1

Lymphocyte Signaling

2 Kegg Pathways (Kegg details for RUNX1T1):

	Pathways in cancer
	Acute myeloid leukemia

RUNX1T1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for RUNX1T1

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

5/61 Interacting proteins for RUNX1T1 (Q06455^{1, 2, 3} ENSP00000265814⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 61)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ATN1	P54259²^,³, ENSP00000349076⁴	MINT-2857407 I2D: score=4 STRING: ENSP00000349076
UBQLN4	Q9NRR5²^,³, ENSP00000357292⁴	MINT-2857388 I2D: score=3 STRING: ENSP00000357292
TCF12	Q99081³, ENSP00000331057⁴	I2D: score=6 STRING: ENSP00000331057
ABI3	Q9P2A4³, ENSP00000225941⁴	I2D: score=4 STRING: ENSP00000225941
HDAC3	O15379³, ENSP00000302967⁴	I2D: score=4 STRING: ENSP00000302967

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:0006091	generation of precursor metabolites and energy	TAS	9618262
GO:0006351	transcription, DNA-dependent	IEA	--
GO:0006355	regulation of transcription, DNA-dependent	--	--
GO:0045444	fat cell differentiation	--	--
GO:0051101	regulation of DNA binding	--	--

RUNX1T1 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

RUNX1T1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for RUNX1T1
5 Novoseek chemical compound relationships for RUNX1T1 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
zinc	32.2	9	15109542 (2), 8334990 (1), 15377655 (1), 7812194 (1) (see all 6)
proline	3.33	2	7812194 (1)
oligonucleotide	0	1	8499624 (1)
threonine	0	3	10076566 (2), 8781439 (1)
serine	0	3	10076566 (2), 8781439 (1)

Search CenterWatch for drugs/clinical trials and news about RUNX1T1 / MTG8

(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, Sirion Biotech, 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 RUNX1T1 gene (15 alternative transcripts):

NM_001198625.1 NM_001198626.1 NM_001198627.1 NM_001198628.1 NM_001198629.1 NM_001198630.1 NM_001198631.1 NM_001198632.1

NM_001198633.1 NM_001198634.1 NM_001198679.1 NM_004349.3 NM_175634.2 NM_175635.2 NM_175636.2

Unigene Cluster for RUNX1T1:

Runt-related transcription factor 1; translocated to, 1 (cyclin D-related)

Hs.368431 [show with all ESTs]

Unigene Representative Sequence: NM_001198625

18/47 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 47):

ENST00000523629(uc010man.2 uc003yfb.2 uc003yfc.2 uc010mam.3 uc003yfe.2 uc003yfd.3 uc022axo.1 uc010mao.3 uc011lgi.2 uc022axp.1 uc022axq.1 uc022axr.1 uc022axs.1 uc022axt.1 uc022axu.1 uc022axv.1)

ENST00000396218 ENST00000360348 ENST00000422361(uc003yfg.2) ENST00000520724

ENST00000521078 ENST00000518844 ENST00000521751 ENST00000520978 ENST00000518361

ENST00000520047 ENST00000521553(uc003yff.1) ENST00000522316 ENST00000518992

ENST00000521054 ENST00000523290 ENST00000519847 ENST00000517792

miRNA Products:		OriGene 3'-UTR Clone (see all 4): RUNX1T1 Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat RUNX1T1
		8/285 QIAGEN miScript miRNA Assays for microRNAs that regulate RUNX1T1 (see all 285):
		hsa-miR-579 hsa-miR-193a-3p hsa-miR-146a hsa-miR-605 hsa-miR-502-3p hsa-miR-3916 hsa-miR-3162-5p hsa-miR-1273d

		SwitchGear 3'UTR luciferase reporter plasmid: RUNX1T1 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 RUNX1T1 (see all 7) OriGene shRNA RFP: RUNX1T1 OriGene siRNA: RUNX1T1
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		Sirion Biotech Custom design and validation of potent shRNA sequences against RUNX1T1

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for RUNX1T1 (see all 11) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for RUNX1T1 (see all 5) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 15): RUNX1T1 (NM_004349)
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat RUNX1T1

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for RUNX1T1 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat RUNX1T1
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat RUNX1T1

Additional cDNA sequence:

AF018283.1 AF131817.1 AK297616.1 AK312592.1 AL049240.1 BC005850.1 BC067078.1 BT009871.1

CR456792.1 D14289.1 D14821.1 D43638.1 S82690.1 X79990.1 Z35296.1

24/27 DOTS entries (see all 27):

DT.95267502 DT.121484056 DT.95267501 DT.95267503 DT.92474135 DT.92474122 DT.65285691 DT.121484123

DT.121484036 DT.121484082 DT.121484113 DT.300587 DT.92474131 DT.121484027 DT.121484088 DT.215536

DT.100023769 DT.121484092 DT.121484105 DT.95207072 DT.121484035 DT.121484103 DT.121484135 DT.406088

24/83 AceView cDNA sequences (see all 83):

BT009871 CA844294 AI804854 BQ632275 NM_004349 NM_175635 AI264845 CA844355

AU117637 AA992855 CR619328 H94855 AK057707 H80492 AL536357 CA848975

F02579 CA849037 NM_175634 NM_175636 BC005850 X79990 H46979 BC067078

GeneLoc Exon Structure

5/26 Alternative Splicing Database (ASD) splice patterns (SP) for RUNX1T1 (see all 26) About this scheme

ExUns:	1a	·	1b	·	1c	·	1d	·	1e	^	2a	·	2b	·	2c	·	2d	^	3	^	4a	·	4b	^	5	^	6a	·	6b	^	7a	·	7b	^	8	^	9a	·	9b	·	9c	·	9d	·	9e	·	9f	^	10a	·	10b	·
SP1:																									-		-		-		-		-		-		-		-
SP2:																			-		-		-		-		-		-		-		-		-		-		-
SP3:																																			-		-		-
SP4:
SP5:											-		-		-				-						-		-		-		-		-		-		-		-

ExUns:	10c	·	10d	·	10e	·	10f	·	10g	^	11a	·	11b	^	12	^	13	^	14	^	15	^	16	^	17	^	18	^	19	^	20a	·	20b
SP1:													-						-
SP2:													-						-
SP3:													-						-
SP4:													-						-
SP5:

ECgene alternative splicing isoforms for RUNX1T1

(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

RUNX1T1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CTTTTGTCAG

About this image

RUNX1T1 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 3 LifeMap Cells

Name

Category

PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)

Heart, Myocardium, Smooth Muscle

PureStem™ progenitor EN2 (Embryonic Progenitor Cell)

Primordial germ cell-like cells (Reconstitution of mo...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See RUNX1T1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RUNX1T1

SOURCE GeneReport for Unigene cluster: Hs.368431

UniProtKB/Swiss-Prot: MTG8_HUMAN, Q06455

Tissue specificity: Most abundantly expressed in brain. Lower levels in lung, heart, testis and ovary

SABiosciences Expression via Pathway-Focused PCR Array including RUNX1T1:

Adipogenesis in human mouse rat

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(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 animals.

Orthologs for RUNX1T1 gene from 5/14 species (see all 14) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Runx1t1^{1 , 5}	runt-related transcription factor 1; translocated to, more^{1, 5}	91.9(n)¹ 99.13(a)¹		4 (5.88 cM)⁵ 12395¹ NM_001111027.1¹ NP_001104497.1¹ 13743436⁵
chicken (Gallus gallus)	Aves	RUNX1T1¹	runt-related transcription factor 1; translocated to, more	89.29(n) 96.87(a)		395503 NM_204744.1 NP_990075.1
lizard (Anolis carolinensis)	Reptilia	RUNX1T1⁶	--	94(a)	1 ↔ 1	4(17710844-17771938)
zebrafish (Danio rerio)	Actinopterygii	wufj53h11²	Transcribed sequence with strong similarity to protein more	78.35(n)		57077045
fruit fly (Drosophila melanogaster)	Insecta	nvy⁶	nervy	23(a)	1 → many	2R(20163258-20178607)

ENSEMBL Gene Tree for RUNX1T1 (if available)
TreeFam Gene Tree for RUNX1T1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for RUNX1T1 gene

CBFA2T3² CBFA2T2²

4 SIMAP similar genes for RUNX1T1 using alignment to 26 protein entries: MTG8_HUMAN (see all proteins):

MTG8 RUNX1/CBFA2T2 fusion CBFA2T2 CBFA2T3

RUNX1T1 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)
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SNP ID	Valid	Clinical significance	Chr 8 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs55748194^1,2	C,F	--	88174051(+)	`CCCCAT/CGTACA`	15	--	ds500¹		5	WA CSA	126
rs78029773^1,2	F	--	88174473(+)	`TATCCA/TCTTGA`	15	--	ut3¹		1	WA	118
rs77807575^1,2	F	--	88174533(+)	`GTCAAC/AGGGTT`	15	--	ut3¹		1	WA	118
rs16914664^1,2	C	--	88174563(+)	`TCTGGC/TCTTTT`	15	--	ut3¹		4	NA WA	260
rs77776670^1,2	C,F	--	88176222(+)	`CACATT/AAAAAA`	15	--	ut3¹		2	NA WA	4
rs3832564^1,2	C	--	88176753(-)	`AAAAAA/-TCCCT`	15	--	ut3¹		3	NA	6
rs13255690^1,2	C,H	--	88176808(+)	`GAGACG/ATACTG`	15	--	ut3¹		5	NS EA NA	416
rs73304081^1,2	C	--	88177366(+)	`CCAAAG/ACTAAT`	15	--	ut3¹		2	WA	120
rs2976513^1,2	H	--	88177453(+)	`GTTGTC/TTACAC`	15	--	ut3¹		4	NS EA	418
rs2737806^1,2	C,H	--	88177722(-)	`CTTTAA/CCACTG`	15	--	ut3¹		6	NS EA NA	414

HapMap Linkage Disequilibrium report for RUNX1T1 (92967203 - 93115514 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for RUNX1T1: --
Human Gene Mutation Database (HGMD): RUNX1T1

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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

RUNX1T1 for disorders About GeneDecksing

OMIM gene information: 133435 OMIM disorders: --

UniProtKB/Swiss-Prot: MTG8_HUMAN, Q06455

Note=A chromosomal aberration involving RUNX1T1 is a cause of acute myeloid leukemia (AML-M2). Translocation

t(8;21)(q22;q22) with RUNX1/AML1

Defects in RUNX1T1 may be a cause of colorectal cancer (CRC) [MIM:114500]

20/22 diseases for RUNX1T1 (see all 22): About MalaCards

acute myeloid leukemia leukemia myeloid leukemia williams-beuren syndrome

dna topoisomerase ii b-cell lymphomas chronic myeloid leukemia muscular dystrophy

acute leukemia myeloid malignancy lymphoblastic leukemia ovarian cancer

lung carcinoma anemia ataxia obesity

pneumonia melanoma carcinoma pancreatitis

1 disease from the University of Copenhagen DISEASES database for RUNX1T1:

Acute myeloid leukemia

10/11 Novoseek disease relationships for RUNX1T1 gene (see all 11) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
leukemogenesis	78.5	2	10076566 (1), 8781439 (1)
minimal residual disease	64	1	7553157 (1)
leukemia	62.5	11	15723339 (2), 15231665 (1), 16893685 (1), 17572682 (1) (see all 8)
chromosomal aberrations	55.7	2	15231665 (1), 8427996 (1)
myeloid leukemia	54.6	2	17572682 (1), 10675041 (1)
aml childhood	52.2	2	12557226 (1)
hematologic malignancies	47.3	1	14551142 (1)
promyelocytic leukemia	41.9	2	10688654 (1), 10951564 (1)
acute leukemia	36.2	1	14551142 (1)
leukemia promyelocytic acute	23.5	1	14551142 (1)

Export disorders for RUNX1T1 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)
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PubMed articles for RUNX1T1 gene, integrated from 9 sources (see all 200):
(articles sorted by number of sources associating them with RUNX1T1)

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

Identification of two transcripts of AML1/ETO-fused gene in t(8;21) leukemic cells and expression of wild-type ETO gene in hematopoietic cells. (PubMed id 7541640)^{1, 2, 9} Era T.... Takatsuki K. (1995)
Structure and expression of the human MTG8/ETO gene. (PubMed id 9661669)^{1, 2, 9} Wolford J.K. and Prochazka M. (1998)
CBFA2T1, a gene rearranged in human leukemia, is a member of a multigene family. (PubMed id 9790752)^{1, 3, 9} Calabi F. and Cilli V. (1998)
The t(8;21) translocation in acute myeloid leukemia results in production of an AML1-MTG8 fusion transcript. (PubMed id 8334990)^{1, 2, 9} Miyoshi H.... Ohki M. (1993)
Transcriptionally active chimeric gene derived from the fusion of the AML1 gene and a novel gene on chromosome 8 in t(8;21) leukemic cells. (PubMed id 1423235)^{1, 2, 9} Nisson P.E.... Sacchi N. (1992)
The tetramer structure of the Nervy homology two domain, NHR2, is critical for AML1/ETO's activity. (PubMed id 16616331)^{1, 2} Liu Y....Bushweller J.H. (2006)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
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 transcriptional corepressor MTG16a contains a novel nucleolar targeting sequence deranged in t(16; 21)-positive myeloid malignancies. (PubMed id 12242670)^{1, 2} Hoogeveen A.T.... Sacchi N. (2002)
Atrophin-1, the dentato-rubral and pallido-luysian atrophy gene product, interacts with ETO/MTG8 in the nuclear matrix and represses transcription. (PubMed id 10973986)^{1, 2} Wood J.D....Ross C.A. (2000)

(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)
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Entrez Gene: 862	HGNC: 1535	AceView: CBFA2T1	Ensembl:ENSG00000079102	euGenes: HUgn862
ECgene: RUNX1T1	Kegg: 862	H-InvDB: RUNX1T1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for RUNX1T1	Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for RUNX1T1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for RUNX1T1 gene
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Patent Information for RUNX1T1 gene:
Search GeneIP for patents involving RUNX1T1

GeneCards and IP:
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RUNX1T1 Gene

runt-related transcription factor 1; translocated to, 1...

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RUNX1T1 Gene

runt-related transcription factor 1; translocated to, 1...

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