AFF4 (ALF transcription elongation factor 4)
| Gene | |
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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27125 |
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Gene name
Gene Name - the full gene name approved by the HGNC.
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ALF transcription elongation factor 4 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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AFF4 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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AF5Q31, CHOPS, MCEF |
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Chromosome
Chromosome number
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5 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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5q31.1 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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The protein encoded by this gene belongs to the AF4 family of transcription factors involved in leukemia. It is a component of the positive transcription elongation factor b (P-TEFb) complex. A chromosomal translocation involving this gene and MLL gene on |
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SNPs
SNP information provided by dbSNP.
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miRNA
miRNA information provided by mirtarbase database.
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Gene ontology (GO)
Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDs
Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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| Protein | |||||||||||||||||||||
| UniProt ID | Q9UHB7 | ||||||||||||||||||||
| Protein name | AF4/FMR2 family member 4 (ALL1-fused gene from chromosome 5q31 protein) (Protein AF-5q31) (Major CDK9 elongation factor-associated protein) | ||||||||||||||||||||
| Protein function | Key component of the super elongation complex (SEC), a complex required to increase the catalytic rate of RNA polymerase II transcription by suppressing transient pausing by the polymerase at multiple sites along the DNA. In the SEC complex, AFF | ||||||||||||||||||||
| PDB | 4IMY , 4OGR , 4OR5 , 5JW9 , 5L1Z , 6CYT , 6K7P , 6KN5 , 6R80 | ||||||||||||||||||||
| Family and domains |
Pfam
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| Tissue specificity | TISSUE SPECIFICITY: Ubiquitously expressed. Strongly expressed in heart, placenta, skeletal muscle, pancreas and to a lower extent in brain. {ECO:0000269|PubMed:10588740, ECO:0000269|PubMed:12065898}. | ||||||||||||||||||||
| Sequence | |||||||||||||||||||||
| Sequence length | 1163 | ||||||||||||||||||||
| Interactions | View interactions | ||||||||||||||||||||
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Pathways
Pathway information has different metabolic/signaling pathways associated with genes.
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Associated diseases
Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
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