TRPC6 - transient receptor potential cation channel subfamily C member 6 Gene
Also Known as TRP6; FSGS2
Species: Homo sapiens
About TRPC6
This gene has 7 transcripts (splice variants), 264 orthologues, 5 paralogues and is associated with 2 phenotypes. Broad expression in placenta (RPKM 7.7), lung (RPKM 7.3) and 18 other tissues.
Summary
The protein encoded by this gene forms a receptor-activated Calcium Channel in the cell membrane. The channel is activated by diacylglycerol and is thought to be under the control of a phosphatidylinositol second messenger system. Activation of this channel occurs independently of protein kinase C and is not triggered by low levels of intracellular calcium. Defects in this gene are a cause of focal segmental glomerulosclerosis 2 (FSGS2). [provided by RefSeq, Mar 2009]
TRPC6 Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_004621.6 | NP_004612.2 | short transient receptor potential channel 6 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables inositol 1,4,5 trisphosphate binding |
IDA
IDA: Inferred from direct assay
|
14505576 | GOA |
| enables monoatomic cation channel activity |
IDA
IDA: Inferred from direct assay
|
19936226 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15757897 | GOA |
| enables protein homodimerization activity |
IDA
IDA: Inferred from direct assay
|
23291369 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within positive regulation of calcium ion transport |
IDA
IDA: Inferred from direct assay
|
10998353 | GOA |
| acts upstream of or within positive regulation of ion transmembrane transporter activity |
IDA
IDA: Inferred from direct assay
|
10998353 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in cytoplasm |
IDA
IDA: Inferred from direct assay
|
23171048 | GOA |
| located in membrane |
IDA
IDA: Inferred from direct assay
|
23171048 | GOA |
| located in plasma membrane |
IDA
IDA: Inferred from direct assay
|
10998353 | GOA |
TRPC6 Protein Structure
Ank_2: Ankyrin repeats (3 copies) (105 - 183)
TRP_2: Transient receptor ion channel II (253 - 315)
Ion_trans: Ion transport protein (497 - 727)
- 0
- 200
- 400
- 600
- 800
- 931 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
short transient receptor potential channel 6 |
|
TRPC6 Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
TRPC6 | Q9Y210 | MX1 | Homo sapiens | P20591 | 15757897 | |
|
Intra
|
TRPC6 | Q9Y210 | MX1 | Homo sapiens | P20591 | 15757897 | |
|
Intra
|
TRPC6 | Q9Y210 | MX1 | Homo sapiens | P20591 | 15757897 |
TRPC6 Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P89598 | TRPC6 Antibody (YA8942) | WB, ICC/IF, IF-Tissue, IP, ELISA | human, mouse, rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Focal Segmental Glomerulosclerosis 2 |
|
|
| Nephrotic Syndrome |
|
|
| Genetic Steroid-Resistant Nephrotic Syndrome |
|
|
| Focal Segmental Glomerulosclerosis |
|
|
| Hypothalamic Neoplasm |
|
|
| Diencephalic Neoplasm |
|
|
| Pyloric Stenosis |
|
|
| End Stage Renal Disease |
|
|
| Kidney Disease |
|
|
| Familial Nephrotic Syndrome |
|
|
| Focal Segmental Glomerulosclerosis 5 |
|
|
| Glomerulonephritis |
|
|
| Progressive Familial Heart Block |
|
|
| Frasier Syndrome |
|
|
| Lipoid Nephrosis |
|
|
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
|
| Immunodeficiency 10 |
|
|
| Denys-Drash Syndrome |
|
|
| Autoimmune Glomerulonephritis |
|
|
| T Cell And Nk Cell Immunodeficiency |
|
|
| Nail-Patella Syndrome |
|
|
| Familial Episodic Pain Syndrome |
|
|
| Hypertrophic Pyloric Stenosis |
|
|
| Retinitis Pigmentosa 36 |
|
|
| Alport Syndrome |
|
|
| Hypertension, Essential |
|
|
| Galloway-Mowat Syndrome |
|
|
| Autosomal Dominant Polycystic Kidney Disease |
|
|
| Polycystic Kidney Disease |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | TRPC6 | VGNC | VGNC:36386 |
| Felis catus | TRPC6 | VGNC | VGNC:66586 |
| Macaca mulatta | TRPC6 | VGNC | VGNC:78654 |
| Rattus norvegicus | TRPC6 | RGD | RGD:619788 |
| Canis familiaris | TRPC6 | VGNC | VGNC:47871 |
| Mus musculus | TRPC6 | MGD | MGI:109523 |
| Others | TRPC6 | NCBI |