TTYH3
Tweety Family Member 3
Gene Information Card
| Symbol | TTYH3 |
|---|---|
| Full Name | Tweety Family Member 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 7p22.3 |
| NCBI Gene ID | 80727 ncbi.nlm.nih.gov/gene/80727 |
| Ensembl ID | ENSG00000136295 |
| UniProt ID | Q9H0U4 |
| OMIM ID | 610083 |
| HGNC ID | 13806 |
| Aliases | hTTYH3, FLJ22386 |
Description
TTYH3 (Tweety Family Member 3) is a protein-coding gene that encodes a member of the tweety family of proteins. The encoded protein functions as a calcium-activated chloride channel and is involved in cellular ion homeostasis. TTYH3 is expressed in various tissues and has been implicated in cancer and other diseases.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (general) | Overexpression may promote tumor growth; exact mechanism under investigation | COSMIC |
| Glioma | Altered expression linked to tumor progression | COSMIC |
| Colorectal cancer | Upregulated in tumor tissues | COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Lung | 8.5 | Low |
| Colon | 12.1 | Medium |
| Kidney | 6.3 | Low |
| Testis | 20.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 18.0 | High expression |
| HeLa | 9.5 | Moderate expression |
| A549 | 7.2 | Low expression |
| HCT116 | 14.8 | High expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional impact |
| c.1234G>A (p.Gly412Ser) | Missense | <0.01% | Unknown functional impact |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No confirmed dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • Calcium-activated chloride channel activity | • Chloride channel activity |
| • Plasma membrane | • Integral component of membrane |
| • Ion transport |
Pathways
• Calcium signaling pathway
• Ion channel transport
Protein Summary
The TTYH3 protein is a calcium-activated chloride channel localized to the plasma membrane. It mediates chloride ion flux in response to intracellular calcium elevation, playing a role in cellular excitability, volume regulation, and secretion. The protein is widely expressed, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TTYH3 Knockout HEK293 Cell Line | EDJ-KQ9551 | Human | 80727 | Details Get a Quote |
| TTYH3 Knockout A-549 Cell Line | EDJ-KQ36344 | Human | 80727 | Details Get a Quote |
| TTYH3 Knockout HCT 116 Cell Line | EDJ-KQ36345 | Human | 80727 | Details Get a Quote |
| TTYH3 Knockout HeLa Cell Line | EDJ-KQ36346 | Human | 80727 | Details Get a Quote |
