Gene Gene information from NCBI Gene database.
Entrez ID 9139
Gene name CBFA2/RUNX1 partner transcriptional co-repressor 2
Gene symbol CBFA2T2
Synonyms (NCBI Gene)
EHTMTGR1ZMYND3p85
Chromosome 20
Chromosome location 20q11.21-q11.22
Summary In acute myeloid leukemia, especially in the M2 subtype, the t(8;21)(q22;q22) translocation is one of the most frequent karyotypic abnormalities. The translocation produces a chimeric gene made up of the 5`-region of the RUNX1 (AML1) gene fused to the 3`-
miRNA miRNA information provided by mirtarbase database.
954
miRTarBase ID miRNA Experiments Reference
MIRT027387 hsa-miR-101-3p Sequencing 20371350
MIRT049423 hsa-miR-92a-3p CLASH 23622248
MIRT044277 hsa-miR-106b-5p CLASH 23622248
MIRT634788 hsa-miR-512-5p HITS-CLIP 23824327
MIRT634787 hsa-miR-510-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0000122 Process Negative regulation of transcription by RNA polymerase II IEA
GO:0003714 Function Transcription corepressor activity IBA
GO:0003714 Function Transcription corepressor activity IDA 19026687
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
603672 1536 ENSG00000078699
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43439
Protein name Protein CBFA2T2 (ETO homologous on chromosome 20) (MTG8-like protein) (MTG8-related protein 1) (Myeloid translocation-related protein 1) (p85)
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:12559562, PubMed:15203199). Via assoc
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07531 TAFH 115 204 NHR1 homology to TAF Family
PF08788 NHR2 331 397 NHR2 domain like Domain
PF01753 zf-MYND 507 543 MYND finger Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed in fetal and adult tissues. Highly expressed in adult brain, heart, lung, kidney, lymph node, appendix, thymus, testis, uterus, small intestine, prostate and thymus. {ECO:0000269|PubMed:10675041, ECO:0000269|PubM
Sequence
MAKESGISLKEIQVLARQWKVGPEKRVPAMPGSPVEVKIQSRSSPPTMPPLPPINPGGPR
PVSFTPTALSNGINHSPPTLNGAPSPPQRFSNGPASSTSSALTNQQLPATCGARQLSKLK
RFLTTLQQFGNDISPEIGEKVRTLVLALVNSTVTIEEFHCKLQEATNFPLRPFVIPFLKA
NLPLLQRELLHCARAAKQTPSQYL
AQHEHLLLNTSIASPADSSELLMEVHGNGKRPSPER
REENSFDRDTIAPEPPAKRVCTISPAPRHSPALTVPLMNPGGQFHPTPPPLQHYTLEDIA
TSHLYREPNKMLEHREVRDRHHSLGLNGGYQDELVDHRLTEREWADEWKHLDHALNCIME
MVEKTRRSMAVLRRCQESDREELNYWKRRYNENTELR
KTGTELVSRQHSPGSADSLSNDS
QREFNSRPGTGYVPVEFWKKTEEAVNKVKIQAMSEVQKAVAEAEQKAFEVIATERARMEQ
TIADVKRQAAEDAFLVINEQEESTENCWNCGRKASETCSGCNIARYCGSFCQHKDWERHH
RLC
GQNLHGQSPHGQGRPLLPVGRGSSARSADCSVPSPALDKTSATTSRSSTPASVTAID
TNGL
Sequence length 604
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BENIGN PROSTATIC HYPERPLASIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma Adenocarcinoma BEFREE 1310887
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 23234880
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 16579640, 21118977, 23222510, 28027535
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Carcinoma of lung Lung carcinoma BEFREE 1310887
★☆☆☆☆
Found in Text Mining only
Cerebrovascular accident Stroke BEFREE 11224002
★☆☆☆☆
Found in Text Mining only
Chronic Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 22623730
★☆☆☆☆
Found in Text Mining only
Colitis Colitis BEFREE 21303973
★☆☆☆☆
Found in Text Mining only
Colon Carcinoma Colon Carcinoma BEFREE 26864651, 7541019
★☆☆☆☆
Found in Text Mining only
Colorectal Carcinoma Colorectal Cancer BEFREE 27270437, 31217502
★☆☆☆☆
Found in Text Mining only
Conventional (Clear Cell) Renal Cell Carcinoma Renal Carcinoma BEFREE 29162985, 29288416, 29782581
★☆☆☆☆
Found in Text Mining only