Aff3 Gene Summary [Mouse]
Enables DNA-binding transcription factor activity and double-stranded DNA binding activity. Involved in embryonic hindlimb morphogenesis and regulation of DNA-templated transcription. Located in nucleus. Is expressed in several structures, including alimentary system; genitourinary system; limb bud; nervous system; and sensory organ. Used to study KINSSHIP syndrome. Human ortholog(s) of this gene implicated in KINSSHIP syndrome. Orthologous to human AFF3 (ALF transcription elongation factor 3). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Aff3 |
| Official Name | AF4/FMR2 family, member 3 [Source:MGI Symbol;Acc:MGI:106927] |
| Ensembl ID | ENSMUSG00000037138 |
| Bio databases IDs | |
| Aliases | AF4/FMR2 family, member 3 |
| Synonyms | 3222402O04Rik, A730046J16, AF4/FMR2 family, member 3, ALF transcription elongation factor 3, KINS, LAF-4, MLLT2-like |
| Species | Mouse, Mus musculus |
| 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 mouse Aff3 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
- double-stranded DNA binding
- AF-4 proto-oncoprotein C-terminal region
- transcription factor activity
- 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
- metabolic syndrome X
- non-insulin-dependent diabetes mellitus
- systemic lupus erythematosus
- IgA nephropathy
- schizophrenia
- pain
- chronic obstructive pulmonary disease
- pervasive developmental disorder
- rheumatoid arthritis
- androgenic alopecia
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
- cytosol
- nucleoplasm
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Aff3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of gene expression
- regulation of transcription, DNA-dependent
- embryonic hindlimb morphogenesis
- response to tumor necrosis factor
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear body
- cytosol
- ELL-EAF complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- sequence-specific DNA binding transcription factor activity
- double-stranded DNA binding