Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7225
Gene name	Transient receptor potential cation channel subfamily C member 6
Gene symbol	TRPC6
Synonyms (NCBI Gene)	FSGS2TRP6
Chromosome	11
Chromosome location	11q22.1
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 chann

Show/Hide all (47)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121434390	G>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121434391	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs121434392	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121434393	T>A	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant
rs121434394	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs121434395	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs145077205	C>A,G,T	Likely-benign, drug-response, benign	Coding sequence variant, synonymous variant, non coding transcript variant
rs768210838	G>A,C,T	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, synonymous variant, missense variant
rs878853179	G>A	Drug-response	Non coding transcript variant, 3 prime UTR variant
rs878853180	A>G	Drug-response	Intron variant
rs878853181	C>A	Drug-response	Intron variant
rs878853182	G>A,T	Drug-response	Intron variant
rs878853183	G>C	Drug-response	Intron variant
rs878853184	A>G	Drug-response	Intron variant
rs878853185	T>C	Drug-response	Intron variant
rs878853186	T>C	Drug-response	Non coding transcript variant, coding sequence variant, synonymous variant
rs878853187	G>A	Drug-response	Missense variant, non coding transcript variant, coding sequence variant
rs878853188	A>G	Drug-response	Missense variant, non coding transcript variant, coding sequence variant
rs878853189	A>G	Drug-response	Intron variant
rs878853190	A>G	Drug-response	Non coding transcript variant, coding sequence variant, synonymous variant
rs878853191	A>G	Drug-response	Intron variant
rs878853192	T>A	Drug-response	Intron variant
rs878853193	G>C	Drug-response	Missense variant, non coding transcript variant, coding sequence variant
rs878853194	A>T	Drug-response	Intron variant
rs878853195	T>C	Drug-response	Non coding transcript variant, coding sequence variant, synonymous variant
rs878853196	A>G	Drug-response	Intron variant
rs878853197	T>C	Drug-response	Non coding transcript variant, coding sequence variant, synonymous variant
rs878853198	A>T	Drug-response	Intron variant
rs878853199	A>G	Drug-response	Intron variant
rs878853200	C>A	Drug-response	Intron variant
rs878853201	A>G	Drug-response	Intron variant
rs878853202	A>G	Drug-response	Intron variant
rs878853203	A>G	Drug-response	Intron variant
rs878853204	T>A	Drug-response	Intron variant
rs878853205	G>A	Drug-response	Intron variant
rs878853206	A>G,T	Drug-response	Missense variant, non coding transcript variant, coding sequence variant
rs878853207	A>G	Drug-response	Missense variant, non coding transcript variant, coding sequence variant
rs878853208	G>T	Drug-response	Missense variant, non coding transcript variant, coding sequence variant
rs878853209	C>T	Drug-response	Intron variant
rs878853210	A>G	Drug-response	Intron variant
rs1165923760	A>C	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1451194842	C>T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1555003819	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1565206758	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1565221486	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1565221699	C>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1591517929	C>T	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant

Show/Hide all (53)

miRTarBase ID	miRNA	Experiments	Reference
MIRT022827	hsa-miR-124-3p	Microarray	18668037
MIRT1457256	hsa-miR-1289	CLIP-seq
MIRT1457257	hsa-miR-181a	CLIP-seq
MIRT1457258	hsa-miR-181b	CLIP-seq
MIRT1457259	hsa-miR-181c	CLIP-seq
MIRT1457260	hsa-miR-181d	CLIP-seq
MIRT1457261	hsa-miR-1909	CLIP-seq
MIRT1457262	hsa-miR-208a	CLIP-seq
MIRT1457263	hsa-miR-208b	CLIP-seq
MIRT1457264	hsa-miR-214	CLIP-seq
MIRT1457265	hsa-miR-2355-5p	CLIP-seq
MIRT1457266	hsa-miR-23a	CLIP-seq
MIRT1457267	hsa-miR-23b	CLIP-seq
MIRT1457268	hsa-miR-23c	CLIP-seq
MIRT1457269	hsa-miR-3151	CLIP-seq
MIRT1457270	hsa-miR-3192	CLIP-seq
MIRT1457271	hsa-miR-3617	CLIP-seq
MIRT1457272	hsa-miR-3619-5p	CLIP-seq
MIRT1457273	hsa-miR-3658	CLIP-seq
MIRT1457274	hsa-miR-383	CLIP-seq
MIRT1457275	hsa-miR-4262	CLIP-seq
MIRT1457276	hsa-miR-4447	CLIP-seq
MIRT1457277	hsa-miR-4450	CLIP-seq
MIRT1457278	hsa-miR-4472	CLIP-seq
MIRT1457279	hsa-miR-4487	CLIP-seq
MIRT1457280	hsa-miR-4530	CLIP-seq
MIRT1457281	hsa-miR-4717-3p	CLIP-seq
MIRT1457282	hsa-miR-4772-5p	CLIP-seq
MIRT1457283	hsa-miR-491-5p	CLIP-seq
MIRT1457284	hsa-miR-499-5p	CLIP-seq
MIRT1457285	hsa-miR-595	CLIP-seq
MIRT1457286	hsa-miR-641	CLIP-seq
MIRT1457287	hsa-miR-761	CLIP-seq
MIRT1457269	hsa-miR-3151	CLIP-seq
MIRT2137112	hsa-miR-329	CLIP-seq
MIRT2137113	hsa-miR-3607-3p	CLIP-seq
MIRT2137114	hsa-miR-362-3p	CLIP-seq
MIRT2137115	hsa-miR-3686	CLIP-seq
MIRT2137116	hsa-miR-3941	CLIP-seq
MIRT1457276	hsa-miR-4447	CLIP-seq
MIRT1457278	hsa-miR-4472	CLIP-seq
MIRT2137117	hsa-miR-4643	CLIP-seq
MIRT2137118	hsa-miR-466	CLIP-seq
MIRT2137119	hsa-miR-4672	CLIP-seq
MIRT2137120	hsa-miR-4789-3p	CLIP-seq
MIRT1457283	hsa-miR-491-5p	CLIP-seq
MIRT2137121	hsa-miR-603	CLIP-seq
MIRT1457273	hsa-miR-3658	CLIP-seq
MIRT2357913	hsa-miR-4436b-3p	CLIP-seq
MIRT2357914	hsa-miR-4761-3p	CLIP-seq
MIRT2357915	hsa-miR-562	CLIP-seq
MIRT2357916	hsa-miR-587	CLIP-seq
MIRT2357917	hsa-miR-654-3p	CLIP-seq

Show/Hide all (45)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003779	Function	Actin binding	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005261	Function	Monoatomic cation channel activity	IDA	19936226, 23291369
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005262	Function	Calcium channel activity	IDA	9930701
GO:0005262	Function	Calcium channel activity	IEA
GO:0005262	Function	Calcium channel activity	IMP	26892346
GO:0005262	Function	Calcium channel activity	TAS
GO:0005515	Function	Protein binding	IPI	15757897, 23171048
GO:0005737	Component	Cytoplasm	IDA	23171048
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	10998353, 23291369
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS	9930701
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006812	Process	Monoatomic cation transport	TAS	9930701
GO:0006816	Process	Calcium ion transport	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IEA
GO:0007338	Process	Single fertilization	IBA
GO:0015279	Function	Store-operated calcium channel activity	IBA
GO:0015279	Function	Store-operated calcium channel activity	IEA
GO:0016020	Component	Membrane	IDA	23171048
GO:0016020	Component	Membrane	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0030276	Function	Clathrin binding	IEA
GO:0032414	Process	Positive regulation of ion transmembrane transporter activity	IDA	10998353
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0034703	Component	Cation channel complex	IBA
GO:0036057	Component	Slit diaphragm	IEA
GO:0042803	Function	Protein homodimerization activity	IDA	23291369
GO:0042805	Function	Actinin binding	IEA
GO:0045666	Process	Positive regulation of neuron differentiation	IEA
GO:0050774	Process	Negative regulation of dendrite morphogenesis	IEA
GO:0051117	Function	ATPase binding	IEA
GO:0051480	Process	Regulation of cytosolic calcium ion concentration	IBA
GO:0051928	Process	Positive regulation of calcium ion transport	IDA	10998353
GO:0055085	Process	Transmembrane transport	IEA
GO:0070301	Process	Cellular response to hydrogen peroxide	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IBA
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	TAS
GO:0070679	Function	Inositol 1,4,5 trisphosphate binding	IBA
GO:0070679	Function	Inositol 1,4,5 trisphosphate binding	IDA	14505576
GO:0071456	Process	Cellular response to hypoxia	IEA

MIM	HGNC	e!Ensembl
603652	12338	ENSG00000137672

Q9Y210

Protein name

Short transient receptor potential channel 6 (TrpC6) (Transient receptor protein 6) (TRP-6)

Protein function

Forms a receptor-activated non-selective calcium permeant cation channel (PubMed:19936226, PubMed:23291369, PubMed:26892346, PubMed:9930701). Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine k

PDB

5YX9 , 6UZ8 , 6UZA , 7A6U , 7DXF , 7DXG

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF12796	Ank_2	102 → 191	Ankyrin repeats (3 copies)	Repeat
PF08344	TRP_2	253 → 315	Transient receptor ion channel II	Family
PF00520	Ion_trans	441 → 739	Ion transport protein	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed primarily in placenta, lung, spleen, ovary and small intestine. Expressed in podocytes and is a component of the glomerular slit diaphragm. {ECO:0000269|PubMed:15924139}.

Sequence

MSQSPAFGPRRGSSPRGAAGAAARRNESQDYLLMDSELGEDGCPQAPLPCYGYYPCFRGS
DNRLAHRRQTVLREKGRRLANRGPAYMFSDRSTSLSIEEERFLDAAEYGNIPVVRKMLEE
CHSLNVNCVDYMGQNALQLAVANEHLEITELLLKKENLSRVGDALLLAISKGYVRIVEAI
LSHPAFAEGKRLATSPSQSELQQDDFYAYDEDGTRFSHDVTPIILAAHCQEYEIVHTLLR
KGARIERPHDYFCKCNDCNQKQKHDSFSHSRSRINAYKGLASPAYLSLSSEDPVMTALEL
SNELAVLANIEKEFKNDYKKLSMQCKDFVVGLLDLCRNTEEVEAILNGDVETLQSGDHGR
PNLSRLKLAIKYEVKKFVAHPNCQQQLLSIWYENLSGLRQQTMAVKFLVVLAVAIGLPFL
ALIYWFAPCSKMGKIMRGPFMKFVAHAASFTIFLGLLVMNAADRFEGTKLLPNETSTDNA
KQLFRMKTSCFSWMEMLIISWVIGMIWAECKEIWTQGPKEYLFELWNMLDFGMLAIFAAS
FIARFMAFWHASKAQSIIDANDTLKDLTKVTLGDNVKYYNLARIKWDPSDPQIISEGLYA
IAVVLSFSRIAYILPANESFGPLQISLGRTVKDIFKFMVIFIMVFVAFMIGMFNLYSYYI
GAKQNEAFTTVEESFKTLFWAIFGLSEVKSVVINYNHKFIENIGYVLYGVYNVTMVIVLL
NMLIAMINSSFQEIEDDADVEWKFARAKLWFSYFEEGRTLPVPFNLVPSPKSLFYLLLKL
KKWISELFQGHKKGFQEDAEMNKINEEKKLGILGSHEDLSKLSLDKKQVGHNKQPSIRSS
EDFHLNSFNNPPRQYQKIMKRLIKRYVLQAQIDKESDEVNEGELKEIKQDISSLRYELLE
EKSQNTEDLAELIRELGEKLSMEPNQEETNR

Sequence length

931

Interactions

View interactions

	KEGG		Reactome
	cGMP-PKG signaling pathway Axon guidance		Effects of PIP2 hydrolysis Elevation of cytosolic Ca2+ levels TRP channels

292

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Focal segmental glomerulosclerosis	Likely pathogenic	rs1218485537	RCV002294624
Focal segmental glomerulosclerosis 2	Pathogenic; Likely pathogenic	rs1591517912, rs121434390, rs121434392, rs121434394, rs121434395, rs869025541, rs2497277601, rs2497323385, rs2496173240, rs2497337197, rs2496173855, rs2496224973, rs2496225413, rs2497277391, rs1451194842 View all (3 more)	RCV002489901 RCV000006526 RCV000006528 RCV000006530 RCV000006531 RCV001336716 RCV003236648 RCV003314356 RCV003337973 RCV004577599 RCV004577600 RCV004577601 RCV004547352 RCV004555415 RCV001029759 RCV001281330 RCV001281329 RCV001391126
Nephrotic syndrome	Pathogenic; Likely pathogenic	rs1591517912, rs121434394, rs869025541, rs1860201767	RCV001849651 RCV001328174 RCV000208455 RCV001328109
TRPC6-related disorder	Pathogenic; Likely pathogenic	rs1591517912, rs121434394, rs869025541	RCV003401759 RCV004751205 RCV003422116

Show/Hide Unknown Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Atypical hemolytic-uremic syndrome	Benign	rs3824934	RCV002294262
Cervical cancer	Conflicting classifications of pathogenicity	rs138155461	RCV005907459
Corticosteroids response	drug response; Uncertain significance	rs1859343311, rs1231955948, rs145580926, rs200841275	RCV001254652 RCV001261434 RCV001261435 RCV001261436
Kidney disorder	Conflicting classifications of pathogenicity; Uncertain significance; Benign; Likely benign	rs199810047, rs1306324106, rs200806868, rs2497345484, rs191383391	RCV002294625 RCV002294674 RCV002294676 RCV002294730 RCV002294261
Nonpapillary renal cell carcinoma	Likely benign	rs199786058	RCV005926655
Prednisolone response	drug response; Benign; Likely benign	rs878853179, rs878853180, rs878853181, rs878853182, rs878853183, rs878853184, rs878853185, rs878853186, rs878853187, rs878853188, rs878853189, rs145077205, rs878853190, rs878853191, rs878853192 View all (18 more)	RCV000225008 RCV000225047 RCV000225088 RCV000225006 RCV000225044 RCV000225085 RCV000225029 RCV000225057 RCV000225084 RCV000225025 RCV000225054 RCV000225092 RCV000225021 RCV000225061 RCV000225090 RCV000225032 RCV000225072 RCV000225100 RCV000225030 RCV000225067 RCV000225011 RCV000225052 RCV000225065 RCV000225010 RCV000225049 RCV000225078 RCV000225018 RCV000225046 RCV000225086 RCV000225016 RCV000225058 RCV000225098 RCV000225027
Sarcoma	Conflicting classifications of pathogenicity	rs138155461	RCV005907460
Thyroid cancer, nonmedullary, 1	-	rs199611561	RCV006040492

Show/Hide Text Mining Associations (64)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Albuminuria	Associate	24103534
Asthma	Associate	27317689
Atrial Fibrillation	Associate	28839241
Autism Spectrum Disorder	Associate	37552395
Autistic Disorder	Associate	37552395
Breast Neoplasms	Stimulate	18452628
Breast Neoplasms	Associate	30321616, 35882306
Carcinoma Hepatocellular	Associate	27011063
Carcinoma Non Small Cell Lung	Associate	23840757, 28030826
Carcinoma Ovarian Epithelial	Associate	29321518
Cardiomegaly	Associate	23171048
Cardiotoxicity	Associate	35882306
COVID 19	Associate	35598647
Diabetes Mellitus Type 2	Stimulate	18258814, 20068131
Diabetes Mellitus Type 2	Associate	24551085
Drug Related Side Effects and Adverse Reactions	Associate	31266804
Endometrial Neoplasms	Associate	34337010
Endometriosis	Associate	30134548, 39689787
Familial Primary Pulmonary Hypertension	Associate	15358862, 19380626, 25603901
Fatigue Syndrome Chronic	Associate	27834303
Glioblastoma	Stimulate	26088448
Glioma	Associate	18211288
Glomerulonephritis	Associate	20961851
Glomerulonephritis Membranous	Associate	25019165
Glomerulosclerosis Focal Segmental	Associate	15924139, 19129465, 19936226, 20540633, 21426891, 23171048, 25019165, 28629718, 29138824, 31266804, 35300969, 36958215, 37615749, 39349897, 39999713
Heart Failure	Associate	35882306
Hematuria Benign Familial	Associate	29138824
Hereditary Breast and Ovarian Cancer Syndrome	Associate	18452628
Hyperglycemia	Stimulate	18258814
Hyperkinesis	Associate	37552395
Hypertension	Associate	30380548
Hypertension Pulmonary	Associate	23171048
Hypertrophy	Stimulate	15358862
Hypoxia	Stimulate	29351410
Inflammation	Associate	19380626, 22566504, 35598647
Intervertebral Disc Degeneration	Associate	31827137
Ischemia	Associate	26913924
Kidney Diseases	Associate	19129465, 24196483, 26913924
Kidney Failure Chronic	Associate	23663351, 24551085, 39999713
Lung Neoplasms	Associate	23840757
Lymphoma B Cell	Associate	24518247
Necrosis	Associate	26913924
Neoplasm Metastasis	Associate	24418082
Neoplasms	Associate	23497198, 28030826, 33380424
Nephrosis congenital	Associate	28204945
Nephrosis Lipoid	Associate	22980509, 23663351
Nephrotic Syndrome	Associate	19936226, 20798252, 24196483, 28204945, 28921387, 35920919, 39349897
Nerve Degeneration	Associate	37552395
Pain	Associate	31827137
Persistent Fetal Circulation Syndrome	Associate	31382961
Pre Eclampsia	Associate	30380548, 37285119
Prostatic Hyperplasia	Associate	19701218
Prostatic Neoplasms	Associate	16489003, 19701218, 20835261, 21623387, 24418082
Proteinuria	Associate	20540633, 23663351, 30380548, 31937884
Pulmonary Arterial Hypertension	Associate	25603901, 35968892
Pulmonary Disease Chronic Obstructive	Associate	36833211
Renal Insufficiency	Associate	15924139
Renal Insufficiency Chronic	Associate	23663351
Skin Diseases	Associate	18818211
Squamous Cell Carcinoma of Head and Neck	Associate	23497198
Triple Negative Breast Neoplasms	Associate	33380424
Uterine Diseases	Associate	39689787
Vascular Remodeling	Associate	35968892
Wounds and Injuries	Associate	26913924, 30380548

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