AFF4 Gene Summary [Human]
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 chromosome 11 is found in infant acute lymphoblastic leukemia with ins(5;11)(q31;q31q23). [provided by RefSeq, Oct 2011]
Details
| Type | Protein Coding |
| Official Symbol | AFF4 |
| Official Name | AF4/FMR2 family member 4 [Source:HGNC Symbol;Acc:HGNC:17869] |
| Ensembl ID | ENSG00000072364 |
| Bio databases IDs | |
| Aliases | AF4/FMR2 family member 4, ALF transcription elongation factor 4, ALL1 fused gene from 5q31 |
| Synonyms | AF4/FMR2 family, member 4, AF5, AF5Q31, Alf4, ALF transcription elongation factor 4, CHOPS, Laf4l, MCEF, XSG6 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human AFF4 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- transcription regulator
- AF4 interaction motif
- AFF4 C-terminal homology domain
- AF-4 proto-oncoprotein C-terminal region
- protein binding
- AF-4 proto-oncoprotein N-terminal region
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- neoplasia
- organismal death
- weight gain
- CHOPS syndrome
- acute myeloid leukemia
- growth failure
- azoospermia
role in cell
- expression in
- proliferation
- differentiation
- cell cycle progression
- transformation
- size
- colony formation
- development
- formation by
- number
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- fibrillar center
- nucleoplasm
- nuclear bodies
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human AFF4 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- spermatid development
- regulation of gene expression
- response to endoplasmic reticulum stress
Cellular Component
Where in the cell the gene product is active
- euchromatin
- transcription elongation factor complex
- ELL-EAF complex
- fibrillar center
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- protein binding