Gene Gene information from NCBI Gene database.
Entrez ID 863
Gene name CBFA2/RUNX1 partner transcriptional co-repressor 3
Gene symbol CBFA2T3
Synonyms (NCBI Gene)
ETO2MTG16MTGR2RUNX1T3ZMYND4
Chromosome 16
Chromosome location 16q24.3
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(16;21)(q24;q22) translocation is one of the less co
miRNA miRNA information provided by mirtarbase database.
702
miRTarBase ID miRNA Experiments Reference
MIRT688804 hsa-miR-4768-3p HITS-CLIP 23313552
MIRT688803 hsa-miR-4459 HITS-CLIP 23313552
MIRT688802 hsa-miR-4433a-3p HITS-CLIP 23313552
MIRT688801 hsa-miR-4635 HITS-CLIP 23313552
MIRT688800 hsa-miR-15b-3p HITS-CLIP 23313552
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
26
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0001666 Process Response to hypoxia IDA 23840896
GO:0003714 Function Transcription corepressor activity IBA
GO:0003714 Function Transcription corepressor activity IEA
GO:0003714 Function Transcription corepressor activity TAS 23251453, 25974097
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603870 1537 ENSG00000129993
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75081
Protein name Protein CBFA2T3 (MTG8-related protein 2) (Myeloid translocation gene on chromosome 16 protein) (hMTG16) (Zinc finger MYND domain-containing protein 4)
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). Can repre
PDB 9DE2
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07531 TAFH 173 262 NHR1 homology to TAF Family
PF08788 NHR2 379 445 NHR2 domain like Domain
PF01753 zf-MYND 556 592 MYND finger Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed with higher expression in heart, pancreas, skeletal muscle, spleen, thymus and peripheral blood leukocytes. Expressed in hematopoietic cells (at protein level). {ECO:0000269|PubMed:15231665, ECO:0000269|PubMed:9596646,
Sequence
MPASRLRDRAASSASGSTCGSMSQTHPVLESGLLASAGCSAPRGPRKGGPAPVDRKAKAS
AMPDSPAEVKTQPRSTPPSMPPPPPAASQGATRPPSFTPHTHREDGPATLPHGRFHGCLK
WSMVCLLMNGSSHSPTAINGAPCTPNGFSNGPATSSTASLSTQHLPPACGARQLSKLKRF
LTTLQQFGSDISPEIGERVRTLVLGLVNSTLTIEEFHSKLQEATNFPLRPFVIPFLKANL
PLLQRELLHCARLAKQTPAQYL
AQHEQLLLDASASSPIDSSELLLEVNENGKRRTPDRTK
ENGSDRDPLHPEHLSKRPCTLNPAQRYSPSNGPPQPTPPPHYRLEDIAMAHHFRDAYRHP
DPRELRERHRPLVVPGSRQEEVIDHKLTEREWAEEWKHLNNLLNCIMDMVEKTRRSLTVL
RRCQEADREELNHWARRYSDAEDTK
KGPAPAAARPRSSSAGPEGPQLDVPREFLPRTLTG
YVPEDIWRKAEEAVNEVKRQAMSELQKAVSDAERKAHELITTERAKMERALAEAKRQASE
DALTVINQQEDSSESCWNCGRKASETCSGCNAARYCGSFCQHRDWEKHHHVCGQSLQGPT
AVVADPVPGPPEAAHSLGPSLPVGAASPSEAGSAGPSRPGSPSPPGPLDTVPR
Sequence length 653
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
14
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
ATHEROSCLEROSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DUODENAL ULCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
EYE DISEASE 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
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 24064250
★☆☆☆☆
Found in Text Mining only
Acute megakaryoblastic leukemia without Down syndrome Megakaryoblastic Leukemia Without Down Syndrome Orphanet
★☆☆☆☆
Found in Text Mining only
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 23407549, 31474360, 31662298, 31719049
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 31040112
★☆☆☆☆
Found in Text Mining only
Acute Undifferentiated Leukemia Leukemia BEFREE 31040112
★☆☆☆☆
Found in Text Mining only
Adult Hodgkin Lymphoma Hodgkin Lymphoma BEFREE 20436485
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 31370031 Associate
★☆☆☆☆
Found in Text Mining only
Atrophy Atrophy Pubtator 31370031 Associate
★☆☆☆☆
Found in Text Mining only
B-Cell Lymphomas B-Cell Lymphoma BEFREE 22420028
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 12183414, 27572702, 29358956
★☆☆☆☆
Found in Text Mining only