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Gene id

864

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

RUNX3 Gene UCSC Ensembl

Aliases

AML2, CBFA3, PEBP2aC

Gene name

runt related transcription factor 3

Alternate names

runt-related transcription factor 3, CBF-alpha-3, PEA2 alpha C, PEBP2 alpha C, SL3-3 enhancer factor 1 alpha C subunit, SL3/AKV core-binding factor alpha C subunit, acute myeloid leukemia 2 protein, acute myeloid leukemia gene 2, core-binding factor subunit alpha,

Gene location

1p36.11 (24965157: 24899510) Exons: 8 NC_000001.11

Gene summary(Entrez)

This gene encodes a member of the runt domain-containing family of transcription factors. A heterodimer of this protein and a beta subunit forms a complex that binds to the core DNA sequence 5'-PYGPYGGT-3' found in a number of enhancers and promoters, and can either activate or suppress transcription. It also interacts with other transcription factors. It functions as a tumor suppressor, and the gene is frequently deleted or transcriptionally silenced in cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

OMIM

600210

Protein Summary

Protein general information

Q13761

Name: Runt related transcription factor 3 (Acute myeloid leukemia 2 protein) (Core binding factor subunit alpha 3) (CBF alpha 3) (Oncogene AML 2) (Polyomavirus enhancer binding protein 2 alpha C subunit) (PEA2 alpha C) (PEBP2 alpha C) (SL3 3 enhancer factor 1 a

Length: 415 Mass: 44,356

Tissue specificity: Expressed in gastric cancer tissues (at protein level). {ECO

Sequence

MRIPVDPSTSRRFTPPSPAFPCGGGGGKMGENSGALSAQAAVGPGGRARPEVRSMVDVLADHAGELVRTDSPNFL
CSVLPSHWRCNKTLPVAFKVVALGDVPDGTVVTVMAGNDENYSAELRNASAVMKNQVARFNDLRFVGRSGRGKSF
TLTITVFTNPTQVATYHRAIKVTVDGPREPRRHRQKLEDQTKPFPDRFGDLERLRMRVTPSTPSPRGSLSTTSHF
SSQPQTPIQGTSELNPFSDPRQFDRSFPTLPTLTESRFPDPRMHYPGAMSAAFPYSATPSGTSISSLSVAGMPAT
SRFHHTYLPPPYPGAPQNQSGPFQANPSPYHLYYGTSSGSYQFSMVAGSSSGGDRSPTRMLASCTSSAASVAAGN
LMNPSLGGQSDGVEADGSHSNSPTALSTPGRMDEAVWRPY

Structural information

Protein Domains	Runt. (54-182)
Interpro:	IPR000040 IPR008967 IPR012346 IPR013524 IPR027384 IPR013711
Prosite:	PS51062
Pfam:	PF00853 PF08504
MINT:	6774046
STRING:	ENSP00000343477;

Other Databases

GeneCards: RUNX3; Malacards: RUNX3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0000790	nuclear chromatin	ISS	cellular_component
GO:0000977	RNA polymerase II regulat ory region sequence-speci fic DNA binding	ISS	molecular_function
GO:0000981	RNA polymerase II transcr iption factor activity, s equence-specific DNA bind ing	ISS	molecular_function
GO:0000981	RNA polymerase II transcr iption factor activity, s equence-specific DNA bind ing	IBA	molecular_function
GO:0001503	ossification	IBA	biological_process
GO:0002062	chondrocyte differentiati on	IBA	biological_process
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005524	ATP binding	NAS	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006355	regulation of transcripti on, DNA-templated	NAS	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	IBA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	TAS	biological_process
GO:0006468	protein phosphorylation	IDA	biological_process
GO:0030097	hemopoiesis	IBA	biological_process
GO:0045595	regulation of cell differ entiation	IBA	biological_process
GO:0045786	negative regulation of ce ll cycle	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0048935	peripheral nervous system neuron development	TAS	biological_process
GO:0050680	negative regulation of ep ithelial cell proliferati on	ISS	biological_process
GO:0071559	response to transforming growth factor beta	IDA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0000790	nuclear chromatin	ISS	cellular_component
GO:0000977	RNA polymerase II regulat ory region sequence-speci fic DNA binding	ISS	molecular_function
GO:0000981	RNA polymerase II transcr iption factor activity, s equence-specific DNA bind ing	ISS	molecular_function
GO:0000981	RNA polymerase II transcr iption factor activity, s equence-specific DNA bind ing	IBA	molecular_function
GO:0001503	ossification	IBA	biological_process
GO:0002062	chondrocyte differentiati on	IBA	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005524	ATP binding	IEA	molecular_function
GO:0005524	ATP binding	NAS	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	NAS	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	IBA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	TAS	biological_process
GO:0006468	protein phosphorylation	IDA	biological_process
GO:0030097	hemopoiesis	IBA	biological_process
GO:0045595	regulation of cell differ entiation	IBA	biological_process
GO:0045786	negative regulation of ce ll cycle	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0048935	peripheral nervous system neuron development	TAS	biological_process
GO:0050680	negative regulation of ep ithelial cell proliferati on	ISS	biological_process
GO:0071559	response to transforming growth factor beta	IDA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	ISS	biological_process
GO:0000790	nuclear chromatin	ISS	cellular_component
GO:0000977	RNA polymerase II regulat ory region sequence-speci fic DNA binding	ISS	molecular_function
GO:0000981	RNA polymerase II transcr iption factor activity, s equence-specific DNA bind ing	ISS	molecular_function
GO:0000981	RNA polymerase II transcr iption factor activity, s equence-specific DNA bind ing	IBA	molecular_function
GO:0001503	ossification	IBA	biological_process
GO:0002062	chondrocyte differentiati on	IBA	biological_process
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005524	ATP binding	NAS	molecular_function
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0006355	regulation of transcripti on, DNA-templated	NAS	biological_process
GO:0006357	regulation of transcripti on from RNA polymerase II promoter	IBA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	TAS	biological_process
GO:0006468	protein phosphorylation	IDA	biological_process
GO:0030097	hemopoiesis	IBA	biological_process
GO:0045595	regulation of cell differ entiation	IBA	biological_process
GO:0045786	negative regulation of ce ll cycle	ISS	biological_process
GO:0045893	positive regulation of tr anscription, DNA-template d	IDA	biological_process
GO:0048935	peripheral nervous system neuron development	TAS	biological_process
GO:0050680	negative regulation of ep ithelial cell proliferati on	ISS	biological_process
GO:0071559	response to transforming growth factor beta	IDA	biological_process

KEGG pathways

hsa04658 Th1 and Th2 cell differentiation

Diseases

Associated diseases	References
Ankylosing spondylitis	PMID: 21743469
Celiac disease	PMID: 20190752
Endometrial cancer	PMID: 21914347
Endometriosis	PMID: 25333219
Endometriosis-associated ovarian carcinoma	INFBASE25333219
Endometriosis	INFBASE25333219
Ovarian endometriosis	INFBASE25298284
Ovarian endometriosis	PMID: 25298284

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
25333219	Endometrio sis			123 (30 maligna nt ovarian endo metriotic cyst tissues, 30 cor responding euto pic endometrium tissues from t he endometriosi s-associated ov arian carcinoma (EAOC) group, 19 benign ovari an endometrioti c cyst tissues, 22 correspondi ng eutopic endo metrium tissues			Show abstract
25298284	Endometrio sis (ovari an)			30 EMS-associat ed ovarian carc inoma (18 Ovari an endometrioid cancer, 12 ova rian clear cell cancer)	Female infertility	RASSF2 RUNX3 GSTZ1 CYP2A GBGT1 NDUFS1 SPOCK2 ADAM22 and TRIM36	Show abstract