YAF2: YY1-Associated Factor 2
A multifunctional transcriptional regulator involved in chromatin remodeling, cell cycle control, and cancer biology.
Gene Information Card
| Symbol | YAF2 |
|---|---|
| Full Name | YY1-associated factor 2 |
| Gene Type | Protein-coding |
| Chromosomal Location | 12q12 |
| NCBI Gene ID | 10138 ncbi.nlm.nih.gov/gene/10138 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q8IY23 |
| OMIM ID | 609484 |
| HGNC ID | 28923 |
| Aliases | MGC138290, MGC138291, YY1AF2 |
Description
YAF2 (YY1-associated factor 2) encodes a protein that interacts with the transcription factor YY1 and components of the Polycomb repressive complex. It functions as a transcriptional cofactor involved in chromatin modification, cell proliferation, and differentiation. YAF2 is implicated in several cancers and developmental processes.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | YAF2 overexpression may promote androgen receptor signaling and tumor growth | PMID: 23431128 |
| Colorectal cancer | YAF2 upregulation correlates with poor prognosis and enhanced cell proliferation | PMID: 28723890 |
| Breast cancer | YAF2 interacts with YY1 to modulate estrogen receptor signaling | PMID: 25636800 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Lymph node | 10.2 | Medium |
| Bone marrow | 9.8 | Medium |
| Brain | 6.3 | Low |
| Liver | 4.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | Embryonic kidney cells |
| HeLa | 12.3 | Cervical cancer cells |
| MCF7 | 11.8 | Breast cancer cells |
| HCT116 | 10.5 | Colorectal cancer cells |
| K562 | 9.2 | Leukemia cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.287G>A (p.Arg96Gln) | Missense | <0.01% | Altered protein interaction with YY1 |
| c.412C>T (p.Pro138Ser) | Missense | <0.01% | Unknown functional impact |
| c.523_524insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.523_524insA) are predicted to cause premature truncation and loss of YAF2 function.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in YAF2.
Dominant Negative (DN)
No evidence for dominant-negative effects in YAF2.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Polycomb repressive complex (PRC) pathway
• YY1-mediated transcription regulation
• Androgen receptor signaling pathway
Protein Summary
YAF2 is a 207-amino acid nuclear protein that contains a MYND-type zinc finger domain. It directly binds YY1 and components of the Polycomb group complexes, facilitating chromatin compaction and transcriptional repression. YAF2 also participates in the regulation of cell cycle genes and is overexpressed in multiple cancer types, suggesting an oncogenic role.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| YAF2 Knockout HEK293 Cell Line | EDJ-KQ6911 | Human | 10138 | Details Get a Quote |
| YAF2 Knockout A-549 Cell Line | EDJ-KQ31541 | Human | 10138 | Details Get a Quote |
| YAF2 Knockout HCT 116 Cell Line | EDJ-KQ31542 | Human | 10138 | Details Get a Quote |
| YAF2 Knockout HeLa Cell Line | EDJ-KQ31543 | Human | 10138 | Details Get a Quote |
