TTYH1: Tweety Family Member 1
A calcium-activated chloride channel implicated in glioma and neurodevelopmental disorders
Gene Information Card
| Symbol | TTYH1 |
|---|---|
| Full Name | Tweety Family Member 1 |
| Gene Type | Protein coding |
| Chromosomal Location | 19q13.42 |
| NCBI Gene ID | 57348 ncbi.nlm.nih.gov/gene/57348 |
| Ensembl ID | ENSG00000167658 |
| UniProt ID | Q9H313 |
| OMIM ID | 611127 |
| HGNC ID | 13885 |
| Aliases | Tweety, hTTY1 |
Description
TTYH1 encodes a member of the tweety family of proteins, which function as calcium-activated chloride channels. The protein is predominantly expressed in the brain and is involved in neuronal development and chloride ion homeostasis. TTYH1 has been implicated in glioma progression and certain neurodevelopmental conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Glioma | Overexpression and altered chloride channel activity promote tumor cell migration and invasion | PMID: 25977310 |
| Neurodevelopmental disorder | De novo missense variants disrupt channel function, leading to intellectual disability and seizures | PMID: 31036916 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Testis | 4.2 | Medium |
| Lung | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| U-87 MG (glioblastoma) | 15.3 | High expression |
| SH-SY5Y (neuroblastoma) | 8.7 | Moderate expression |
| HEK 293 (embryonic kidney) | 2.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1043G>A (p.Arg348His) | Missense | <0.01% | Altered channel conductance; associated with neurodevelopmental disorder |
| c.1522C>T (p.Arg508Trp) | Missense | <0.01% | Loss of chloride channel activity; linked to intellectual disability |
Mutation functional classification
Loss of Function (LOF)
p.Arg508Trp reduces chloride conductance
Gain of Function (GOF)
Not reported
Dominant Negative (DN)
Not reported
View complete mutation data：
Gene Ontology (GO)
| • chloride channel activity | • calcium-activated chloride channel activity |
| • plasma membrane | • chloride transport |
| • nervous system development |
Pathways
• Chloride channel complex
• Calcium signaling pathway
Protein Summary
TTYH1 is a 530-amino acid transmembrane protein that forms a calcium-activated chloride channel. It localizes to the plasma membrane and is highly expressed in the brain, where it regulates neuronal excitability and cell volume. Structural studies suggest a dimeric channel architecture.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TTYH1 Knockout HEK293 Cell Line | EDJ-KQ15983 | Human | 57348 | Details Get a Quote |
| TTYH1 Knockout HeLa Cell Line | EDJ-KQ56829 | Human | 57348 | Details Get a Quote |
| TTYH1 Knockout A-549 Cell Line | EDJ-KQ65339 | Human | 57348 | Details Get a Quote |
| TTYH1 Knockout HCT 116 Cell Line | EDJ-KQ73778 | Human | 57348 | Details Get a Quote |
