AFF3 Gene Summary [Human]

This gene encodes a tissue-restricted nuclear transcriptional activator that is preferentially expressed in lymphoid tissue. Isolation of this protein initially defined a highly conserved LAF4/MLLT2 gene family of nuclear transcription factors that may function in lymphoid development and oncogenesis. In some ALL patients, this gene has been found fused to the gene for MLL. Multiple alternatively spliced transcript variants that encode different proteins have been found for this gene. [provided by RefSeq, Jul 2008]

Details

Type
Protein Coding
Official Symbol
AFF3
Official Name
AF4/FMR2 family member 3 [Source:HGNC Symbol;Acc:HGNC:6473]
Ensembl ID
ENSG00000144218
Bio databases IDs NCBI: 3899 Ensembl: ENSG00000144218
Aliases AF4/FMR2 family member 3, ALF transcription elongation factor 3
Synonyms 3222402O04Rik, A730046J16, AF4/FMR2 family, member 3, ALF transcription elongation factor 3, KINS, LAF-4, MLLT2-like
Species
Human, Homo sapiens
OrthologiesMouseRat

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 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
regulated by

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 human 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

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.