AFF3 Gene - AF4/FMR2 Family Member 3
Transcriptional regulator involved in lymphoid development and cancer
Gene Information Card
| Symbol | AFF3 |
|---|---|
| Full Name | AF4/FMR2 Family Member 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 2q11.2 |
| NCBI Gene ID | 3899 ncbi.nlm.nih.gov/gene/3899 |
| Ensembl ID | ENSG00000144218 |
| UniProt ID | P51826 |
| OMIM ID | 601464 |
| HGNC ID | 325 |
| Aliases | MLLT2-like, LAF4, MGC:133155 |
Description
AFF3 (AF4/FMR2 Family Member 3) encodes a nuclear protein that functions as a transcriptional activator. It is a member of the AF4/FMR2 family, which is involved in chromatin remodeling and transcriptional elongation. The gene is highly expressed in lymphoid tissues and plays a critical role in lymphocyte development and differentiation. Chromosomal rearrangements involving AFF3 have been implicated in acute lymphoblastic leukemia (ALL).
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute Lymphoblastic Leukemia | Chromosomal translocations (e.g., t(4;11)(q21;q23)) fuse AFF3 with MLL (KMT2A), generating oncogenic fusion proteins that deregulate gene expression. | COSMIC, ClinVar |
| B-cell lymphoma | Overexpression and rearrangements of AFF3 contribute to B-cell transformation. | COSMIC |
| Intellectual disability | Rare copy number variants and point mutations in AFF3 have been associated with neurodevelopmental phenotypes. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | High |
| Spleen | 10.2 | High |
| Bone marrow | 8.9 | Medium |
| Thymus | 7.4 | Medium |
| Brain | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (leukemia) | 15.3 | High expression |
| HEK 293 (embryonic kidney) | 4.2 | Moderate expression |
| HeLa (cervical cancer) | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Ter) | Nonsense | 0.02% | Loss of function |
| c.567_568insA (p.Glu190ArgfsTer5) | Frameshift | 0.01% | Loss of function |
| c.2101G>A (p.Gly701Arg) | Missense | 0.05% | Unknown |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to premature stop codons and truncated protein.
Gain of Function (GOF)
Fusion proteins with MLL (KMT2A) in leukemia act as gain-of-function transcriptional activators.
Dominant Negative (DN)
Not reported for AFF3.
View complete mutation data：
Gene Ontology (GO)
| • GO:0003713 - transcription coactivator activity | • GO:0005634 - nucleus |
| • GO:0006357 - regulation of transcription by RNA polymerase II | • GO:0045944 - positive regulation of transcription by RNA polymerase II |
Pathways
• Superpathway of gene expression (Reactome: R-HSA-74160)
• Transcriptional regulation by MLL fusion proteins (KEGG: hsa05202)
Protein Summary
The AFF3 protein is a 1275-amino acid nuclear transcriptional activator containing an N-terminal homology domain (NHD) and a C-terminal homology domain (CHD). It interacts with the positive transcription elongation factor b (P-TEFb) complex to regulate RNA polymerase II elongation. In leukemia, AFF3 fusions with MLL (KMT2A) result in aberrant transcriptional programs that drive leukemogenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AFF3 Knockout HEK293 Cell Line | EDJ-KQ5105 | Human | 3899 | Details Get a Quote |
| AFF3 Knockout HeLa Cell Line | EDJ-KQ28057 | Human | 3899 | Details Get a Quote |
| AFF3 Knockout A-549 Cell Line | EDJ-KQ62250 | Human | 3899 | Details Get a Quote |
| AFF3 Knockout HCT 116 Cell Line | EDJ-KQ70735 | Human | 3899 | Details Get a Quote |
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