TRPC4AP
Transient Receptor Potential Cation Channel Subfamily C Member 4 Associated Protein
Gene Information Card
| Symbol | TRPC4AP |
|---|---|
| Full Name | Transient Receptor Potential Cation Channel Subfamily C Member 4 Associated Protein |
| Gene Type | Protein-coding |
| Chromosomal Location | 20q11.22 |
| NCBI Gene ID | 26133 ncbi.nlm.nih.gov/gene/26133 |
| Ensembl ID | ENSG00000100991 |
| UniProt ID | Q8TEL6 |
| OMIM ID | 608430 |
| HGNC ID | 16107 |
| Aliases | TRUSS, TRPC4AP, C20orf188 |
Description
TRPC4AP (Transient Receptor Potential Cation Channel Subfamily C Member 4 Associated Protein), also known as TRUSS, encodes a protein that interacts with TRPC4 and TRPC5 channels, modulating their surface expression and calcium signaling. The gene is located on chromosome 20q11.22 and is broadly expressed in human tissues. TRPC4AP is involved in receptor-mediated calcium entry and may play roles in immune response and cancer.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association reported in ClinVar or OMIM | Not established | No evidence |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 8.5 | Medium |
| Heart | 6.2 | Medium |
| Liver | 4.1 | Low |
| Kidney | 5.8 | Medium |
| Lung | 7.3 | Medium |
| Testis | 9.0 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.2 | High expression in RNA-seq |
| K562 | 6.5 | Moderate expression |
| HeLa | 7.8 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic mutations reported in ClinVar | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No known loss-of-function mutations
Gain of Function (GOF)
No known gain-of-function mutations
Dominant Negative (DN)
No known dominant-negative mutations
View complete mutation data：
Gene Ontology (GO)
| • GO:0005515 (GO:0005515) | • GO:0005737 (GO:0005737) |
| • GO:0005886 (GO:0005886) | • GO:0035255 (GO:0035255) |
| • GO:0070588 (GO:0070588) |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• TRP channel regulation
Protein Summary
The TRPC4AP protein (UniProt Q8TEL6) is a 729-amino acid protein that contains a C-terminal coiled-coil domain and interacts with TRPC4 and TRPC5 channels. It is localized to the cytoplasm and plasma membrane, and functions as a scaffold that regulates channel trafficking and calcium entry. Expression is detected in multiple tissues, with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRPC4AP Knockout HEK293 Cell Line | EDJ-KQ8423 | Human | 26133 | Details Get a Quote |
| TRPC4AP Knockout A-549 Cell Line | EDJ-KQ34517 | Human | 26133 | Details Get a Quote |
| TRPC4AP Knockout HCT 116 Cell Line | EDJ-KQ34518 | Human | 26133 | Details Get a Quote |
| TRPC4AP Knockout HeLa Cell Line | EDJ-KQ34519 | Human | 26133 | Details Get a Quote |
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