TRPC6 (transient receptor potential cation channel subfamily C member 6)

2008-08-01  

Identity

HGNC
TRPC6
LOCATION
11q22.1
LOCUSID
7225
ALIAS
FSGS2,TRP6
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 7225
MIM: 603652
HGNC: 12338
Ensembl: ENSG00000137672

Variants:

dbSNP: 7225
ClinVar: 7225
TCGA: ENSG00000137672
COSMIC: TRPC6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000137672ENST00000344327Q9Y210
ENSG00000137672ENST00000348423Q9Y210
ENSG00000137672ENST00000360497Q9Y210
ENSG00000137672ENST00000532133E9PJN4

Expression (GTEx)

0
5
10
15
20
25
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Axon guidanceKEGGko04360
Axon guidanceKEGGhsa04360
cGMP-PKG signaling pathwayKEGGhsa04022
cGMP-PKG signaling pathwayKEGGko04022
HemostasisREACTOMER-HSA-109582
Platelet homeostasisREACTOMER-HSA-418346
Platelet calcium homeostasisREACTOMER-HSA-418360
Elevation of cytosolic Ca2+ levelsREACTOMER-HSA-139853
Platelet activation, signaling and aggregationREACTOMER-HSA-76002
Effects of PIP2 hydrolysisREACTOMER-HSA-114508
Signal TransductionREACTOMER-HSA-162582
Signaling by GPCRREACTOMER-HSA-372790
GPCR downstream signalingREACTOMER-HSA-388396
G alpha (q) signalling eventsREACTOMER-HSA-416476
Gastrin-CREB signalling pathway via PKC and MAPKREACTOMER-HSA-881907
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351
TRP channelsREACTOMER-HSA-3295583
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
Netrin-1 signalingREACTOMER-HSA-373752
Role of second messengers in netrin-1 signalingREACTOMER-HSA-418890

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
158791752005A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.355
159241392005TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function.273
120323052002Subunit composition of mammalian transient receptor potential channels in living cells.218
153588622004Enhanced expression of transient receptor potential channels in idiopathic pulmonary arterial hypertension.149
173605842007Orai proteins interact with TRPC channels and confer responsiveness to store depletion.117
173176232007Integration of phosphoinositide- and calmodulin-mediated regulation of TRPC6.106
179573832008Revisiting TRPC1 and TRPC6 mechanosensitivity.80
171974452007Galphaq-TRPC6-mediated Ca2+ entry induces RhoA activation and resultant endothelial cell shape change in response to thrombin.77
253853662015Modeling non-syndromic autism and the impact of TRPC6 disruption in human neurons.71
193806262009A functional single-nucleotide polymorphism in the TRPC6 gene promoter associated with idiopathic pulmonary arterial hypertension.69

Citation

Dessen P

TRPC6 (transient receptor potential cation channel subfamily C member 6)

Atlas Genet Cytogenet Oncol Haematol. 2008-08-01

Online version: http://atlasgeneticsoncology.org/gene/50292/trpc6