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TRPC6 transient receptor potential cation channel subfamily C member 6 [ Homo sapiens (human) ]

Gene ID: 7225, updated on 8-Jul-2018
Official Symbol
TRPC6provided by HGNC
Official Full Name
transient receptor potential cation channel subfamily C member 6provided by HGNC
Primary source
HGNC:HGNC:12338
See related
Ensembl:ENSG00000137672 MIM:603652; Vega:OTTHUMG00000167483
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
TRP6; FSGS2
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]
Expression
Broad expression in placenta (RPKM 7.7), lung (RPKM 7.3) and 18 other tissues See more
Orthologs
See TRPC6 in Genome Data Viewer
Location:
11q22.1
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (101451470..101583928, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (101322295..101454687, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene myotubularin related protein 12 pseudogene Neighboring gene uncharacterized LOC105369458 Neighboring gene microRNA 3920 Neighboring gene KIAA1191 pseudogene Neighboring gene plastin 1 pseudogene

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

Description Tests
Focal segmental glomerulosclerosis 2
MedGen: C1858915 OMIM: 603965 GeneReviews: Not available
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NHGRI GWAS Catalog

Description
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog
  • Axon guidance, organism-specific biosystem (from KEGG)
    Axon guidance, organism-specific biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • Axon guidance, conserved biosystem (from KEGG)
    Axon guidance, conserved biosystemAxon guidance represents a key stage in the formation of neuronal network. Axons are guided by a variety of guidance factors, such as netrins, ephrins, Slits, and semaphorins. These guidance cues are...
  • Axon guidance, organism-specific biosystem (from REACTOME)
    Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
  • BDNF-TrkB Signaling, organism-specific biosystem (from WikiPathways)
    BDNF-TrkB Signaling, organism-specific biosystemBrain-derived neurotrophic factor (BDNF) is an important neurotrophin for the regulation of synaptic activity. BDNF-TrkB signaling, TrkB being the receptor of BDNF, is involved in transcription, tran...
  • Developmental Biology, organism-specific biosystem (from REACTOME)
    Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
  • EPO signaling pathway, organism-specific biosystem (from Pathway Interaction Database)
    EPO signaling pathway, organism-specific biosystem
    EPO signaling pathway
  • Effects of PIP2 hydrolysis, organism-specific biosystem (from REACTOME)
    Effects of PIP2 hydrolysis, organism-specific biosystemHydrolysis of phosphatidyl inositol-bisphosphate (PIP2) by phospholipase C (PLC) produces diacylglycerol (DAG) and inositol triphosphate (IP3). Both are potent second messengers. IP3 diffuses into th...
  • Elevation of cytosolic Ca2+ levels, organism-specific biosystem (from REACTOME)
    Elevation of cytosolic Ca2+ levels, organism-specific biosystemActivation of non- excitable cells involves the agonist-induced elevation of cytosolic Ca2+, an essential process for platelet activation. It occurs through Ca2+ release from intracellular stores and...
  • Endothelins, organism-specific biosystem (from Pathway Interaction Database)
    Endothelins, organism-specific biosystem
    Endothelins
  • G alpha (q) signalling events, organism-specific biosystem (from REACTOME)
    G alpha (q) signalling events, organism-specific biosystemThe classic signalling route for G alpha (q) is activation of phospholipase C beta thereby triggering phosphoinositide hydrolysis, calcium mobilization and protein kinase C activation. This provides ...
  • GPCR downstream signaling, organism-specific biosystem (from REACTOME)
    GPCR downstream signaling, organism-specific biosystemG protein-coupled receptors (GPCRs) are classically defined as the receptor, G-protein and downstream effectors, the alpha subunit of the G-protein being the primary signaling molecule. However, it h...
  • Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystem (from REACTOME)
    Gastrin-CREB signalling pathway via PKC and MAPK, organism-specific biosystemGastrin is a hormone whose main function is to stimulate secretion of hydrochloric acid by the gastric mucosa, which results in gastrin formation inhibition. This hormone also acts as a mitogenic fac...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Ion channel transport, organism-specific biosystem (from REACTOME)
    Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
  • Nephrin/Neph1 signaling in the kidney podocyte, organism-specific biosystem (from Pathway Interaction Database)
    Nephrin/Neph1 signaling in the kidney podocyte, organism-specific biosystem
    Nephrin/Neph1 signaling in the kidney podocyte
  • Netrin-1 signaling, organism-specific biosystem (from REACTOME)
    Netrin-1 signaling, organism-specific biosystemNetrins are secreted proteins that play a crucial role in neuronal migration and in axon guidance during the development of the nervous system. To date, several Netrins have been described in mouse a...
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Platelet calcium homeostasis, organism-specific biosystem (from REACTOME)
    Platelet calcium homeostasis, organism-specific biosystemCa2+ homeostasis is controlled by processes that elevate or counter the elevation of cytosolic Ca2+. During steady state conditions, cytoplasmic Ca2+ is reduced by the accumulation of Ca2+ in intrac...
  • Platelet homeostasis, organism-specific biosystem (from REACTOME)
    Platelet homeostasis, organism-specific biosystemUnder normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhesion and activation, suppresses coagulation, enhances fibrin cleavage and is anti-inflammatory in charact...
  • Primary Focal Segmental Glomerulosclerosis FSGS, organism-specific biosystem (from WikiPathways)
    Primary Focal Segmental Glomerulosclerosis FSGS, organism-specific biosystemPrimary or idiopathic focal segmental glomerulosclerosis (FSGS) a cause of nephrotic syndrome in children and adolescents, as well as an important cause of end stage renal disease in adults. FSGS is ...
  • Role of second messengers in netrin-1 signaling, organism-specific biosystem (from REACTOME)
    Role of second messengers in netrin-1 signaling, organism-specific biosystemThe levels of second messengers such as Ca+2, cAMP and cGMP may regulate the response of the growth cone to a particular cue. Netrin-1 as a guidance molecule depends on intracellular Ca+2 concentrati...
  • Signal Transduction, organism-specific biosystem (from REACTOME)
    Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
  • Signaling by GPCR, organism-specific biosystem (from REACTOME)
    Signaling by GPCR, organism-specific biosystemG protein-coupled receptors (GPCRs; 7TM receptors; seven transmembrane domain receptors; heptahelical receptors; G protein-linked receptors [GPLR]) are the largest family of transmembrane receptors i...
  • Stimuli-sensing channels, organism-specific biosystem (from REACTOME)
    Stimuli-sensing channels, organism-specific biosystemIon channels that mediate sensations such as pain, warmth, cold, taste pressure and vision. Channels that mediate these sensations include acid-sensing ion channels (ASICs) (Wang & Xu 2011, Qadri et ...
  • TRP channels, organism-specific biosystem (from REACTOME)
    TRP channels, organism-specific biosystemTransient receptor potential (TRP) channel proteins were first discovered in Drosophila melanogaster and have many homologues in other species including humans. TRPs form cationic channels that can ...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
  • cGMP-PKG signaling pathway, organism-specific biosystem (from KEGG)
    cGMP-PKG signaling pathway, organism-specific biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
  • cGMP-PKG signaling pathway, conserved biosystem (from KEGG)
    cGMP-PKG signaling pathway, conserved biosystemCyclic GMP (cGMP) is the intracellular second messenger that mediates the action of nitric oxide (NO) and natriuretic peptides (NPs), regulating a broad array of physiologic processes. The elevated i...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • FLJ11098, FLJ14863

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATPase binding IEA
Inferred from Electronic Annotation
more info
 
actin binding IEA
Inferred from Electronic Annotation
more info
 
actinin binding IEA
Inferred from Electronic Annotation
more info
 
calcium channel activity TAS
Traceable Author Statement
more info
 
cation channel activity IDA
Inferred from Direct Assay
more info
PubMed 
clathrin binding IEA
Inferred from Electronic Annotation
more info
 
inositol 1,4,5 trisphosphate binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inositol 1,4,5 trisphosphate binding IDA
Inferred from Direct Assay
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IDA
Inferred from Direct Assay
more info
PubMed 
store-operated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
aging IEA
Inferred from Electronic Annotation
more info
 
calcium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion transmembrane transport TAS
Traceable Author Statement
more info
 
cation transport TAS
Traceable Author Statement
more info
PubMed 
cellular response to hydrogen peroxide IEA
Inferred from Electronic Annotation
more info
 
cellular response to hypoxia IEA
Inferred from Electronic Annotation
more info
 
manganese ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of dendrite morphogenesis IEA
Inferred from Electronic Annotation
more info
 
neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
platelet activation TAS
Traceable Author Statement
more info
 
positive regulation of calcium ion transport IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cytosolic calcium ion concentration IEA
Inferred from Electronic Annotation
more info
 
positive regulation of ion transmembrane transporter activity IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of neuron differentiation IEA
Inferred from Electronic Annotation
more info
 
positive regulation of peptidyl-threonine phosphorylation IEA
Inferred from Electronic Annotation
more info
 
regulation of cytosolic calcium ion concentration IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
single fertilization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
slit diaphragm IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
short transient receptor potential channel 6
Names
TRP-6
focal segmental glomerulosclerosis 2
transient receptor protein 6

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011476.1 RefSeqGene

    Range
    5001..137365
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004621.5NP_004612.2  short transient receptor potential channel 6

    See identical proteins and their annotated locations for NP_004612.2

    Status: REVIEWED

    Source sequence(s)
    AJ006276, AK001960
    Consensus CDS
    CCDS8311.1
    UniProtKB/Swiss-Prot
    Q9Y210
    Related
    ENSP00000340913.3, OTTHUMP00000236028, ENST00000344327.7, OTTHUMT00000394770
    Conserved Domains (2) summary
    TIGR00870
    Location:82897
    trp; transient-receptor-potential calcium channel protein
    sd00045
    Location:132159
    ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    101451470..101583928 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017018221.2XP_016873710.1  short transient receptor potential channel 6 isoform X2

    UniProtKB/Swiss-Prot
    Q9Y210
    Related
    ENSP00000343672.4, OTTHUMP00000236030, ENST00000348423.8
    Conserved Domains (4) summary
    cd00204
    Location:105239
    ANK; ankyrin repeats; ankyrin repeats mediate protein-protein interactions in very diverse families of proteins. The number of ANK repeats in a protein can range from 2 to over 20 (ankyrins, for example). ANK repeats may occur in combinations with other ...
    TIGR00870
    Location:82781
    trp; transient-receptor-potential calcium channel protein
    pfam08344
    Location:253312
    TRP_2; Transient receptor ion channel II
    sd00045
    Location:132159
    ANK; ANK repeat [structural motif]
  2. XM_011542968.3XP_011541270.1  short transient receptor potential channel 6 isoform X1

    Conserved Domains (2) summary
    TIGR00870
    Location:27842
    trp; transient-receptor-potential calcium channel protein
    sd00045
    Location:77104
    ANK; ANK repeat [structural motif]

RNA

  1. XR_001747948.2 RNA Sequence

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