Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
862
Gene name Gene Name - the full gene name approved by the HGNC.
RUNX1 partner transcriptional co-repressor 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
RUNX1T1
Synonyms (NCBI Gene) Gene synonyms aliases
AML1-MTG8, AML1T1, CBFA2T1, CDR, ETO, MTG8, ZMYND2
Chromosome Chromosome number
8
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
8q21.3
Summary Summary of gene provided in NCBI Entrez Gene.
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 fre
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs1563765580 ->A Pathogenic Non coding transcript variant, coding sequence variant, genic upstream transcript variant, frameshift variant
rs1587007112 T>G Likely-pathogenic Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020443 hsa-miR-106b-5p Microarray 17242205
MIRT027124 hsa-miR-103a-3p Sequencing 20371350
MIRT031791 hsa-miR-16-5p Sequencing 20371350
MIRT051459 hsa-let-7e-5p CLASH 23622248
MIRT521265 hsa-miR-5011-5p HITS-CLIP 21572407
Transcription factors
Transcription factor Regulation Reference
SMAD4 Activation 21540640
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003714 Function Transcription corepressor activity IBA 21873635
GO:0003714 Function Transcription corepressor activity TAS 23251453
GO:0005515 Function Protein binding IPI 10973986, 12874834, 17572682, 18519037, 18952841
GO:0005634 Component Nucleus IBA 21873635
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
133435 1535 ENSG00000079102
Protein
UniProt ID Q06455
Protein name Protein CBFA2T1 (Cyclin-D-related protein) (Eight twenty one protein) (Protein ETO) (Protein MTG8) (Zinc finger MYND domain-containing protein 2)
Protein function Transcriptional corepressor which facilitates transcriptional repression via its association with DNA-binding transcription factors and recruitment of other corepressors and histone-modifying enzymes (PubMed:10688654, PubMed:12559562, PubMed:152
PDB 1WQ6 , 2DJ8 , 2H7B , 2KNH , 2KYG , 2OD1 , 2ODD , 2PP4 , 4JOL
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07531 TAFH 122 211 NHR1 homology to TAF Family
PF08788 NHR2 337 403 NHR2 domain like Domain
PF01753 zf-MYND 515 551 MYND finger Domain
Tissue specificity TISSUE SPECIFICITY: Most abundantly expressed in brain. Lower levels in lung, heart, testis and ovary.
Sequence
MISVKRNTWRALSLVIGDCRKKGNFEYCQDRTEKHSTMPDSPVDVKTQSRLTPPTMPPPP
TTQGAPRTSSFTPTTLTNGTSHSPTALNGAPSPPNGFSNGPSSSSSSSLANQQLPPACGA
RQLSKLKRFLTTLQQFGNDISPEIGERVRTLVLGLVNSTLTIEEFHSKLQEATNFPLRPF
VIPFLKANLPLLQRELLHCARLAKQNPAQYL
AQHEQLLLDASTTSPVDSSELLLDVNENG
KRRTPDRTKENGFDREPLHSEHPSKRPCTISPGQRYSPNNGLSYQPNGLPHPTPPPPQHY
RLDDMAIAHHYRDSYRHPSHRDLRDRNRPMGLHGTRQEEMIDHRLTDREWAEEWKHLDHL
LNCIMDMVEKTRRSLTVLRRCQEADREELNYWIRRYSDAEDLK
KGGGSSSSHSRQQSPVN
PDPVALDAHREFLHRPASGYVPEEIWKKAEEAVNEVKRQAMTELQKAVSEAERKAHDMIT
TERAKMERTVAEAKRQAAEDALAVINQQEDSSESCWNCGRKASETCSGCNTARYCGSFCQ
HKDWEKHHHIC
GQTLQAQQQGDTPAVSSSVTPNSGAGSPMDTPPAATPRSTTPGTPSTIE
TTPR
Sequence length 604
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Pathways in cancer
Transcriptional misregulation in cancer
Acute myeloid leukemia
 
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Colorectal cancer Colorectal Carcinoma rs137854568, rs137854573, rs137854575, rs387906234, rs121908380, rs121908702, rs267606674, rs794729661, rs121909055, rs281865417, rs267606884, rs28934575, rs587776769, rs104893815, rs587776800
View all (467 more)
Leukemia Leukemia, Myelocytic, Acute, Acute Myeloid Leukemia (AML-M2) rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297 27798625, 18206229
Lung carcinoma Small cell carcinoma of lung rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355
View all (44 more)
22941189
Unknown
Disease term Disease name Evidence References Source
Neurodevelopmental Disorders neurodevelopmental disorder GenCC
Attention Deficit Hyperactivity Disorder Attention Deficit Hyperactivity Disorder GWAS
Metabolic Syndrome Metabolic Syndrome GWAS
Tourette Syndrome Tourette Syndrome GWAS
Associations from Text Mining
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 38243303
Acute erythroleukemia Associate 9432044
Anencephaly Associate 24634123
Attention Deficit Disorder with Hyperactivity Associate 29413154
beta Thalassemia Associate 38243303
Blast Crisis Associate 32366154
Blast Injuries Associate 18790797
Breast Neoplasms Associate 23251453
Carcinoma Associate 23251453
Carcinoma Renal Cell Stimulate 24783204