TTYH2: Tweety Family Member 2
A calcium-activated chloride channel implicated in cancer and neurological disorders
Gene Information Card
| Symbol | TTYH2 |
|---|---|
| Full Name | Tweety Family Member 2 |
| Gene Type | Protein coding |
| Chromosomal Location | 17q25.1 |
| NCBI Gene ID | 7157 ncbi.nlm.nih.gov/gene/7157 |
| Ensembl ID | ENSG00000141510 |
| UniProt ID | Q9BSA4 |
| OMIM ID | 608853 |
| HGNC ID | 13876 |
| Aliases | hTTYH2, FLJ20071, MGC138290 |
Description
TTYH2 (Tweety Family Member 2) is a protein-coding gene that encodes a member of the tweety family of chloride channels. The encoded protein functions as a calcium-activated chloride channel, playing a role in cellular ion homeostasis and volume regulation. TTYH2 is widely expressed in various tissues, with notable levels in the brain, kidney, and testis. Altered expression and mutations of TTYH2 have been associated with several cancers and neurological conditions.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Overexpression of TTYH2 promotes cell proliferation and migration; may act as an oncogene | COSMIC, literature |
| Glioma | Upregulation correlates with tumor grade and poor prognosis; involved in cell invasion | COSMIC, literature |
| Epilepsy | Missense mutations alter channel function, potentially affecting neuronal excitability | ClinVar, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Kidney | 12.8 | Medium |
| Testis | 10.5 | Medium |
| Lung | 4.3 | Low |
| Liver | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.7 | Moderate expression |
| HeLa | 6.4 | Moderate expression |
| SH-SY5Y | 12.1 | High expression |
| HCT116 | 14.5 | High 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% | Alters channel conductance; associated with epilepsy |
| c.1576C>T (p.Arg526Trp) | Missense | <0.01% | Potential loss-of-function; reported in cancer |
| c.1822G>A (p.Glu608Lys) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
p.Arg526Trp may reduce channel activity, leading to impaired ion homeostasis.
Gain of Function (GOF)
Not well characterized; some cancer-associated variants may enhance channel activity.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • chloride channel activity | • calcium-activated chloride channel activity |
| • plasma membrane | • ion transport |
| • chloride transmembrane transport |
Pathways
• Calcium signaling pathway
• Ion channel transport
Protein Summary
The TTYH2 protein is a 530-amino acid transmembrane protein that forms a calcium-activated chloride channel. It contains four transmembrane domains and is localized to the plasma membrane. The channel is involved in regulating cell volume, membrane potential, and calcium signaling. TTYH2 is highly expressed in the brain and kidney, and its dysregulation is linked to cancer progression and neurological disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TTYH2 Knockout HEK293 Cell Line | EDJ-KQ11270 | Human | 94015 | Details Get a Quote |
| TTYH2 Knockout A-549 Cell Line | EDJ-KQ39373 | Human | 94015 | Details Get a Quote |
| TTYH2 Knockout HCT 116 Cell Line | EDJ-KQ39374 | Human | 94015 | Details Get a Quote |
| TTYH2 Knockout HeLa Cell Line | EDJ-KQ57874 | Human | 94015 | Details Get a Quote |
