Gene
|
Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
862 |
Gene nameGene Name - the full gene name approved by the HGNC.
|
RUNX1 partner transcriptional co-repressor 1 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
|
RUNX1T1 |
SynonymsGene synonyms aliases
|
AML1-MTG8, AML1T1, CBFA2T1, CDR, ETO, MTG8, ZMYND2 |
ChromosomeChromosome number
|
8 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
8q21.3 |
SummarySummary 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 |
SNPsSNP 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 |
|
miRNAmiRNA information provided by mirtarbase database.
|
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Transcription factors
|
Transcription factor |
Regulation |
Reference |
SMAD4 |
Activation |
21540640 |
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
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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 |
|
Sequence |
|
Sequence length |
604 |
Interactions |
View interactions |