TAFA5 (TAFA Chemokine Like Family Member 5)
A member of the TAFA family with roles in neurodevelopment and potential implications in cancer and neurological disorders.
Gene Information Card
| Symbol | TAFA5 |
|---|---|
| Full Name | TAFA Chemokine Like Family Member 5 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.32 |
| NCBI Gene ID | 25817 ncbi.nlm.nih.gov/gene/25817 |
| Ensembl ID | ENSG00000100290 |
| UniProt ID | Q7Z5A7 |
| OMIM ID | 617495 |
| HGNC ID | 21595 |
| Aliases | FAM19A5, TAFA-5 |
Description
TAFA5 (TAFA Chemokine Like Family Member 5), also known as FAM19A5, is a protein-coding gene located on chromosome 22q13.32. It belongs to the TAFA family, which shares structural similarity with chemokines. TAFA5 is predominantly expressed in the brain and is involved in neurodevelopment, neuronal migration, and immune modulation. Altered expression has been linked to neuropsychiatric disorders and certain cancers.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorders | Dysregulation of TAFA5 may impair neuronal migration and synaptic function, contributing to developmental phenotypes. | PMID: 25770073 |
| Glioblastoma | TAFA5 expression is reduced in glioblastoma, potentially affecting tumor microenvironment and immune evasion. | PMID: 29127120 |
| Major depressive disorder | Single nucleotide polymorphisms in TAFA5 have been associated with altered risk in genome-wide studies. | PMID: 28095477 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain (cerebral cortex) | 12.5 | Medium |
| Cerebellum | 8.3 | Low |
| Testis | 4.1 | Low |
| Heart | 2.0 | Not detected |
| Liver | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.2 | Neuronal model |
| U87MG (glioblastoma) | 3.8 | Reduced expression |
| HEK293 (embryonic kidney) | 1.1 | Low endogenous |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.337C>T (p.Arg113Trp) | Missense | <0.01% | Unknown functional impact |
| c.502G>A (p.Gly168Ser) | Missense | <0.01% | Predicted benign |
| c.123delC | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.123delC) are predicted to cause loss of function via nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No gain-of-function mutations have been reported for TAFA5.
Dominant Negative (DN)
No dominant-negative mutations have been characterized.
View complete mutation data：
Gene Ontology (GO)
| • chemokine activity (GO:0008009) | • immune response (GO:0006955) |
| • nervous system development (GO:0007399) | • plasma membrane (GO:0005886) |
Pathways
• Chemokine signaling pathway (KEGG: hsa04062)
• Neuroactive ligand-receptor interaction (KEGG: hsa04080)
Protein Summary
TAFA5 encodes a secreted protein of 132 amino acids (UniProt Q7Z5A7) that contains a conserved TAFA domain. It is structurally related to chemokines and is thought to modulate immune cell migration and neuronal guidance. The protein is highly expressed in the brain, particularly in the cerebral cortex, and is involved in neurodevelopmental processes. Its dysregulation has been implicated in glioblastoma and psychiatric disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TAFA5 Knockout HEK293 Cell Line | EDJ-KQ51136 | Human | 25817 | Details Get a Quote |
| TAFA5 Knockout HeLa Cell Line | EDJ-KQ55821 | Human | 25817 | Details Get a Quote |
| TAFA5 Knockout A-549 Cell Line | EDJ-KQ64312 | Human | 25817 | Details Get a Quote |
| TAFA5 Knockout HCT 116 Cell Line | EDJ-KQ72767 | Human | 25817 | Details Get a Quote |
