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... See more...

Aliases for TRPC6 Gene

Aliases for TRPC6 Gene

  • Transient Receptor Potential Cation Channel Subfamily C Member 6 2 3 5
  • TRP6 2 3 4
  • Short Transient Receptor Potential Channel 6 3 4
  • Focal Segmental Glomerulosclerosis 2 2 3
  • Transient Receptor Protein 6 3 4
  • TRP-6 3 4
  • Transient Receptor Potential Cation Channel, Subfamily C, Member 6 2
  • FSGS2 3
  • TRPC6 5
  • TrpC6 4

External Ids for TRPC6 Gene

Previous HGNC Symbols for TRPC6 Gene

  • FSGS2

Previous GeneCards Identifiers for TRPC6 Gene

  • GC11M103516
  • GC11M102679
  • GC11M100860
  • GC11M100827
  • GC11M097256
  • GC11M101322

Summaries for TRPC6 Gene

Entrez Gene Summary for TRPC6 Gene

  • 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]

GeneCards Summary for TRPC6 Gene

TRPC6 (Transient Receptor Potential Cation Channel Subfamily C Member 6) is a Protein Coding gene. Diseases associated with TRPC6 include Focal Segmental Glomerulosclerosis 2 and Genetic Steroid-Resistant Nephrotic Syndrome. Among its related pathways are Neuroscience and Platelet homeostasis. Gene Ontology (GO) annotations related to this gene include binding and calcium channel activity. An important paralog of this gene is TRPC3.

UniProtKB/Swiss-Prot Summary for TRPC6 Gene

  • Thought to form a receptor-activated non-selective calcium permeant cation channel (PubMed:19936226, PubMed:23291369). Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) in a membrane-delimited fashion, independently of protein kinase C (PubMed:26892346). Seems not to be activated by intracellular calcium store depletion.

Gene Wiki entry for TRPC6 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRPC6 Gene

Genomics for TRPC6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TRPC6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J101582 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE CraniofacialAtlas 606.9 +289.5 289452 3 FOXA1 RFX1 EZH2 TBP TRPC6 ENSG00000254506 lnc-CEP126-2 piR-30327-003 lnc-TRPC6-1 PGR
GH11J101870 Enhancer 0.8 Ensembl ENCODE 600.7 +1.8 1761 1.6 CEBPB SP1 JUND ATF3 NR3C1 FOS CHD2 JUN RCOR1 MAX TRPC6 lnc-TRPC6-1 CEP126 piR-43184 PGR
GH11J101872 Enhancer 0.2 Ensembl 600.7 -0.1 -139 1 TRPC6 lnc-TRPC6-1 CEP126 piR-57134-034
GH11J101911 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11 -41.7 -41692 5 SP1 HNRNPL GATAD2A CTCF PRDM10 ZNF629 RFX1 ZNF692 RCOR2 ZHX2 CEP126 TRPC6 ANGPTL5 piR-57134-034
GH11J102010 Enhancer 1.1 FANTOM5 Ensembl ENCODE 10.9 -139.0 -139039 3.6 TEAD4 JUND FOXA1 POLR2A SP1 SMARCC1 KLF7 BRCA1 CTBP1 TGIF2 piR-57133-089 TRPC6 CEP126 ANGPTL5 piR-52475-003 CFAP300
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TRPC6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TRPC6

Top Transcription factor binding sites by QIAGEN in the TRPC6 gene promoter:
  • AhR
  • AML1a
  • Arnt
  • ATF-2
  • CRE-BP1
  • CREB
  • deltaCREB
  • HOXA5
  • ISGF-3
  • Pax-4a

Genomic Locations for TRPC6 Gene

Genomic Locations for TRPC6 Gene
chr11:101,451,470-101,872,562
(GRCh38/hg38)
Size:
421,093 bases
Orientation:
Minus strand
chr11:101,322,295-101,743,293
(GRCh37/hg19)
Size:
420,999 bases
Orientation:
Minus strand

Genomic View for TRPC6 Gene

Genes around TRPC6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRPC6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRPC6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRPC6 Gene

Proteins for TRPC6 Gene

  • Protein details for TRPC6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y210-TRPC6_HUMAN
    Recommended name:
    Short transient receptor potential channel 6
    Protein Accession:
    Q9Y210
    Secondary Accessions:
    • Q52M59
    • Q9HCW3
    • Q9NQA8
    • Q9NQA9

    Protein attributes for TRPC6 Gene

    Size:
    931 amino acids
    Molecular mass:
    106326 Da
    Quaternary structure:
    • Homodimer; forms channel complex (PubMed:26892346). Interacts with MX1 and RNF24 (PubMed:15757897, PubMed:17850865).

    Three dimensional structures from OCA and Proteopedia for TRPC6 Gene

    Alternative splice isoforms for TRPC6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRPC6 Gene

Post-translational modifications for TRPC6 Gene

  • Phosphorylated by FYN, leading to an increase of TRPC6 channel activity.
  • Glycosylation at Asn473 and Asn561
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • TRPC6_HUMAN (2074)

Other Protein References for TRPC6 Gene

No data available for DME Specific Peptides for TRPC6 Gene

Domains & Families for TRPC6 Gene

Gene Families for TRPC6 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Protein Domains for TRPC6 Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
  • Transient receptor potential family signature
  • Transient receptor ion channel II
  • Transient receptor potential channel 6 signature
ProtoNet:

Suggested Antigen Peptide Sequences for TRPC6 Gene

GenScript: Design optimal peptide antigens:
  • Transient receptor protein 6 (TRPC6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y210

UniProtKB/Swiss-Prot:

TRPC6_HUMAN :
  • Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC6 sub-subfamily.
Family:
  • Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC6 sub-subfamily.
genes like me logo Genes that share domains with TRPC6: view

Function for TRPC6 Gene

Molecular function for TRPC6 Gene

UniProtKB/Swiss-Prot Function:
Thought to form a receptor-activated non-selective calcium permeant cation channel (PubMed:19936226, PubMed:23291369). Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) in a membrane-delimited fashion, independently of protein kinase C (PubMed:26892346). Seems not to be activated by intracellular calcium store depletion.
GENATLAS Biochemistry:
transient receptor potential non voltage channel 6,Drosophila store-operated channel (SOC),predominantly expressed in the lung,involved in CA2+ entry stimulated by a G protein coupled receptor from extracellular space by a process called calcium capacitative entry (CCE)

Phenotypes From GWAS Catalog for TRPC6 Gene

Gene Ontology (GO) - Molecular Function for TRPC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005216 ion channel activity IEA --
GO:0005261 cation channel activity IDA 19936226
GO:0005262 calcium channel activity IEA --
GO:0005515 protein binding IPI 15757897
genes like me logo Genes that share ontologies with TRPC6: view
genes like me logo Genes that share phenotypes with TRPC6: view

Human Phenotype Ontology for TRPC6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TRPC6 Gene

MGI Knock Outs for TRPC6:

Animal Model Products

  • Taconic Biosciences Mouse Models for TRPC6

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRPC6

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TRPC6 Gene

Localization for TRPC6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRPC6 Gene

Cell membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TRPC6 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TRPC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005737 cytoplasm IDA 23171048
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0016020 membrane IDA 23171048
genes like me logo Genes that share ontologies with TRPC6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TRPC6 Gene

Pathways & Interactions for TRPC6 Gene

genes like me logo Genes that share pathways with TRPC6: view

Pathways by source for TRPC6 Gene

1 Qiagen pathway for TRPC6 Gene
  • Intracellular Calcium Signaling
1 Cell Signaling Technology pathway for TRPC6 Gene

SIGNOR curated interactions for TRPC6 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for TRPC6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006812 cation transport TAS 9930701
GO:0006816 calcium ion transport IEA --
GO:0006828 manganese ion transport IBA 21873635
GO:0007204 positive regulation of cytosolic calcium ion concentration IEA --
genes like me logo Genes that share ontologies with TRPC6: view

Drugs & Compounds for TRPC6 Gene

(23) Drugs for TRPC6 Gene - From: DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Amiloride Approved Pharma Channel blocker 60
arachidonic acid Experimental Pharma Activator, Agonist, Inhibitor, Activation, Potentiation 40
2,4 diahexanxoylphloroglucinol Pharma Activator 0
20-HETE Pharma Activator 0
2-APB Pharma Channel blocker, Pore Blocker, Antagonist, Gating inhibitor, Activator, Agonist, Potentiation IP3 receptor antagonist. Also TRP channel modulator 0

(11) Additional Compounds for TRPC6 Gene - From: HMDB, IUPHAR, and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
H<sup>+</sup> (extracellular)
Activator, Allosteric regulator, Inhibition, Gating inhibitor, Antagonist, Channel blocker, Potentiation
Diglycerides Group A
  • (2R)-2-Hydroxy-3-(pentadecanoyloxy)propyl (5Z,8Z,11Z)-icosa-5,8,11,14-tetraenoic acid
  • DG(15:0/0:0/20:4n6)
  • Diacylglycerol(15:0/0:0/20:4)
  • DG(35:4)
  • DAG(15:0/0:0/20:4)
Diglycerides Group B
  • 1-Myristoyl-2-eicosadienoyl-sn-glycerol
  • DAG(14:0/20:2)
  • DAG(14:0/20:2N6)
  • DAG(14:0/20:2W6)
  • DAG(34:2)
Diglycerides Group C
  • 1-(9Z-Octadecenoyl)-2-hexadecanoyl-sn-glycerol
  • 1-O-Oleoyl-2-O-palmitoyl-sn-glycerol
  • DG (18:1(9Z)/16:0/0:0)
  • DG(18:1/16:0)
  • Diglyceride
Diglycerides Group D
  • 1,2-Di-(4Z,7Z,10Z,13Z,16Z,19Z-docosahexaenoyl)-sn-glycerol
  • 1,2-Didocosahexaenoyl-sn-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6N3/22:6N3)
  • DAG(22:6OMEGA3/22:6OMEGA3)
genes like me logo Genes that share compounds with TRPC6: view

Transcripts for TRPC6 Gene

mRNA/cDNA for TRPC6 Gene

1 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRPC6

Alternative Splicing Database (ASD) splice patterns (SP) for TRPC6 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b
SP1: - -
SP2: - - - -
SP3: - -
SP4:

Relevant External Links for TRPC6 Gene

GeneLoc Exon Structure for
TRPC6

Expression for TRPC6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TRPC6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TRPC6 Gene

This gene is overexpressed in Esophagus - Muscularis (x7.8), Lung (x6.0), and Esophagus - Gastroesophageal Junction (x4.3).

Protein differential expression in normal tissues from HIPED for TRPC6 Gene

This gene is overexpressed in Breast (34.4), Peripheral blood mononuclear cells (21.1), and Platelet (6.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TRPC6 Gene



Protein tissue co-expression partners for TRPC6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TRPC6

SOURCE GeneReport for Unigene cluster for TRPC6 Gene:

Hs.159003

mRNA Expression by UniProt/SwissProt for TRPC6 Gene:

Q9Y210-TRPC6_HUMAN
Tissue specificity: Expressed primarily in placenta, lung, spleen, ovary and small intestine. Expressed in podocytes and is a component of the glomerular slit diaphragm.

Evidence on tissue expression from TISSUES for TRPC6 Gene

  • Blood(4.6)
  • Heart(2.7)
  • Kidney(2.7)
  • Muscle(2.7)
  • Nervous system(2.5)
  • Lung(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TRPC6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • immune
  • integumentary
  • respiratory
  • urinary
Regions:
Thorax:
  • lung
Abdomen:
  • kidney
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with TRPC6: view

Orthologs for TRPC6 Gene

This gene was present in the common ancestor of animals.

Orthologs for TRPC6 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TRPC6 30 31
  • 99.61 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TRPC6 31
  • 93 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia TRPC6 30 31
  • 91.82 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TRPC6 30 31
  • 91.12 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TRPC6 31
  • 90 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Trpc6 30
  • 88.82 (n)
Mouse
(Mus musculus)
Mammalia Trpc6 30 17 31
  • 88.35 (n)
OneToOne
Chicken
(Gallus gallus)
Aves TRPC6 30 31
  • 81.1 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TRPC6 31
  • 88 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia trpc6 30
  • 77.17 (n)
Zebrafish
(Danio rerio)
Actinopterygii trpc6b 31
  • 77 (a)
OneToMany
trpc6a 31
  • 74 (a)
OneToMany
LOC100333090 30
  • 70.51 (n)
Worm
(Caenorhabditis elegans)
Secernentea trp-1 30 32
  • 51.81 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
OneToMany
Species where no ortholog for TRPC6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TRPC6 Gene

ENSEMBL:
Gene Tree for TRPC6 (if available)
TreeFam:
Gene Tree for TRPC6 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TRPC6: view image

Paralogs for TRPC6 Gene

Paralogs for TRPC6 Gene

(6) SIMAP similar genes for TRPC6 Gene using alignment to 2 proteins:

  • TRPC6_HUMAN
  • E9PJN4_HUMAN
genes like me logo Genes that share paralogs with TRPC6: view

Variants for TRPC6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TRPC6 Gene

SNP ID Clinical significance and condition Chr 11 pos Variation AA Info Type
635496 Likely Pathogenic: Focal segmental glomerulosclerosis 2 101,504,326(-) G/C MISSENSE_VARIANT
635514 Uncertain Significance: Focal segmental glomerulosclerosis 2 101,473,771(-) T/C MISSENSE_VARIANT
725298 Benign: not provided 101,488,970(-) C/T SYNONYMOUS_VARIANT
725323 Benign: not provided 101,504,132(-) G/A SYNONYMOUS_VARIANT
732986 Likely Benign: not provided 101,491,628(-) C/A SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for TRPC6 Gene

Structural Variations from Database of Genomic Variants (DGV) for TRPC6 Gene

Variant ID Type Subtype PubMed ID
dgv2132n54 CNV gain 21841781
dgv2133n54 CNV gain 21841781
dgv410e212 CNV loss 25503493
dgv708n106 CNV deletion 24896259
esv1005678 CNV deletion 20482838
esv1440726 CNV insertion 17803354
esv1637667 CNV deletion 17803354
esv2037840 CNV deletion 18987734
esv2104024 CNV deletion 18987734
esv2586580 CNV deletion 19546169
esv2664051 CNV deletion 23128226
esv2666466 CNV deletion 23128226
esv2671069 CNV deletion 23128226
esv2744985 CNV deletion 23290073
esv2761703 CNV gain 21179565
esv2762940 CNV loss 21179565
esv3066 CNV loss 18987735
esv3255607 CNV deletion 24192839
esv3548250 CNV deletion 23714750
esv3548252 CNV deletion 23714750
esv3580050 CNV gain 25503493
esv3580061 CNV gain 25503493
esv3627511 CNV loss 21293372
esv3627513 CNV gain 21293372
esv3627515 CNV loss 21293372
nsv1052159 CNV gain 25217958
nsv1133170 CNV tandem duplication 24896259
nsv1134168 CNV deletion 24896259
nsv1144588 CNV deletion 24896259
nsv468851 CNV gain 19166990
nsv468852 CNV gain 19166990
nsv507611 OTHER sequence alteration 20534489
nsv519281 CNV gain 19592680
nsv556131 CNV gain 21841781
nsv556132 CNV gain 21841781
nsv958619 CNV deletion 24416366
nsv983058 CNV duplication 23825009

Variation tolerance for TRPC6 Gene

Residual Variation Intolerance Score: 4.94% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.75; 73.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRPC6 Gene

Human Gene Mutation Database (HGMD)
TRPC6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRPC6

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRPC6 Gene

Disorders for TRPC6 Gene

MalaCards: The human disease database

(23) MalaCards diseases for TRPC6 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
focal segmental glomerulosclerosis 2
  • fsgs2
genetic steroid-resistant nephrotic syndrome
  • nephrotic syndrome, steroid-resistant, autosomal recessive
focal segmental glomerulosclerosis
  • fgs
hypothalamic neoplasm
  • neoplasm of the hypothalamus
diencephalic neoplasm
  • malignant diencephalic neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search TRPC6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TRPC6_HUMAN
  • Focal segmental glomerulosclerosis 2 (FSGS2) [MIM:603965]: A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. {ECO:0000269 PubMed:15879175, ECO:0000269 PubMed:15924139, ECO:0000269 PubMed:19458060, ECO:0000269 PubMed:19936226, ECO:0000269 PubMed:20798252, ECO:0000269 PubMed:21511817, ECO:0000269 PubMed:21734084, ECO:0000269 PubMed:22732337, ECO:0000269 PubMed:23014460, ECO:0000269 PubMed:23291369, ECO:0000269 PubMed:26892346}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TRPC6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TRPC6: view

No data available for Genatlas for TRPC6 Gene

Publications for TRPC6 Gene

  1. TRPC6 mutational analysis in a large cohort of patients with focal segmental glomerulosclerosis. (PMID: 19458060) Santín S … de los Ríos FJ (Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2009) 3 4 23 41
  2. A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis. (PMID: 15879175) Winn MP … Rosenberg PB (Science (New York, N.Y.) 2005) 2 3 4 23
  3. Identification and functional analysis of a novel TRPC6 mutation associated with late onset familial focal segmental glomerulosclerosis in Chinese patients. (PMID: 19124028) Zhu B … Wang WM (Mutation research 2009) 3 4 23
  4. TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function. (PMID: 15924139) Reiser J … Pollak MR (Nature genetics 2005) 3 4 23
  5. N-linked protein glycosylation is a major determinant for basal TRPC3 and TRPC6 channel activity. (PMID: 12970363) Dietrich A … Gudermann T (The Journal of biological chemistry 2003) 3 4 23

Products for TRPC6 Gene

Sources for TRPC6 Gene