Gene Gene information from NCBI Gene database.
Entrez ID 862
Gene name RUNX1 partner transcriptional co-repressor 1
Gene symbol RUNX1T1
Synonyms (NCBI Gene)
AML1-MTG8AML1T1CBFA2T1CDRETOMTG8ZMYND2
Chromosome 8
Chromosome location 8q21.3
Summary 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.
2
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.
699
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 factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
SMAD4 Activation 21540640
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003714 Function Transcription corepressor activity IBA
GO:0003714 Function Transcription corepressor activity IDA 10688654
GO:0003714 Function Transcription corepressor activity IEA
GO:0003714 Function Transcription corepressor activity TAS 23251453
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
133435 1535 ENSG00000079102
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
13
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
NK-cell enteropathy Likely pathogenic rs1587007112 RCV000791310
Short stature Pathogenic rs1563765580 RCV000736228
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
RUNX1T1-related disorder Likely benign; Benign rs138740592, rs371638102, rs1458893765, rs201692462, rs187239022, rs73306020, rs145648715, rs143607818, rs34991280, rs138291681, rs2197274 RCV003909248
RCV003967334
RCV003909806
RCV003949372
RCV003932045
RCV003962186
RCV003905919
RCV003955841
RCV003910627
RCV003912846
RCV003926264
Associations from Text MiningDisease associations identified through Pubtator
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