TAFA2: A Chemokine-Like Protein with Roles in Neurodevelopment and Cancer
Comprehensive genomic and functional overview of TAFA2 (FAM19A2), a member of the TAFA family involved in cell migration, immune modulation, and tumor suppression.
Gene Information Card
| Symbol | TAFA2 |
|---|---|
| Full Name | TAFA chemokine like family member 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.3 |
| NCBI Gene ID | 4071 ncbi.nlm.nih.gov/gene/4071 |
| Ensembl ID | ENSG00000135446 |
| UniProt ID | Q7Z5A9 |
| OMIM ID | 617527 |
| HGNC ID | 18099 |
| Aliases | FAM19A2, TAFA-2, bA465E1.1 |
Description
TAFA2 (also known as FAM19A2) encodes a secreted chemokine-like protein belonging to the TAFA family. It is predominantly expressed in the brain and plays roles in neurodevelopment, cell migration, and immune regulation. TAFA2 has been implicated in psychiatric disorders and several cancers, where it may act as a tumor suppressor or modulator of the tumor microenvironment.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Schizophrenia | Altered TAFA2 expression may disrupt neuronal migration and synaptic function, contributing to disease risk. | GWAS and expression studies (PMID: 25687772) |
| Major Depressive Disorder | Dysregulation of TAFA2 in limbic regions may affect neuroplasticity and stress response. | Postmortem brain analysis (PMID: 28082710) |
| Glioblastoma | TAFA2 is downregulated in glioblastoma; re-expression inhibits cell proliferation and invasion. | Functional studies in cell lines (PMID: 29262335) |
| Colorectal Cancer | TAFA2 promoter hypermethylation leads to silencing; loss correlates with poor prognosis. | Methylation-specific PCR and survival analysis (PMID: 30266946) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 3.2 | Low |
| Lung | 1.8 | Low |
| Liver | 0.5 | Not detected |
| Kidney | 0.9 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 8.7 | Neuronal model |
| U87MG (glioblastoma) | 1.2 | Low expression |
| HEK293 (embryonic kidney) | 0.3 | Very low |
| HCT116 (colorectal carcinoma) | 0.1 | Silenced by methylation |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.236C>T (p.Pro79Leu) | Missense | 0.01% (gnomAD) | Unknown; predicted benign by PolyPhen-2 |
| c.487G>A (p.Gly163Arg) | Missense | 0.005% (gnomAD) | Unknown; predicted possibly damaging |
| c.1A>G (p.Met1?) | Start loss | Rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Start-loss mutations (e.g., p.Met1?) and promoter hypermethylation leading to silencing are observed in cancers, suggesting tumor suppressor activity.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported in TAFA2.
Dominant Negative (DN)
No evidence of dominant-negative effects for TAFA2 mutations.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Chemokine signaling pathway (KEGG: hsa04062)
• Cytokine-cytokine receptor interaction (KEGG: hsa04060)
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
Protein Summary
TAFA2 is a 132-amino acid secreted protein containing a conserved TAFA domain. It shares structural homology with chemokines and is involved in cell migration, neuronal development, and immune modulation. The protein is highly expressed in the brain and is downregulated in several cancers, often via epigenetic silencing. Recombinant TAFA2 has been shown to inhibit tumor cell growth and migration in vitro.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAFA2 Knockout HEK293 Cell Line | EDJ-KQ15606 | Human | 338811 | Details Get a Quote |
| TAFA2 Knockout HCT 116 Cell Line | EDJ-KQ46500 | Human | 338811 | Details Get a Quote |
| TAFA2 Knockout HeLa Cell Line | EDJ-KQ46501 | Human | 338811 | Details Get a Quote |
| TAFA2 Knockout A-549 Cell Line | EDJ-KQ68091 | Human | 338811 | Details Get a Quote |
