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

Gene ID: 7225, updated on 1-Jun-2020

Summary

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
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

Genomic context

See TRPC6 in Genome Data Viewer
Location:
11q22.1
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (101451470..101584007, 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

Genomic regions, transcripts, and products

Expression

  • 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Focal segmental glomerulosclerosis 2
MedGen: C1858915 OMIM: 603965 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche.
NHGRI GWA Catalog

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

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
 
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
cation channel complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cell IEA
Inferred from Electronic Annotation
more info
 
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
 

General protein information

Preferred Names
short transient receptor potential channel 6
Names
TRP-6
focal segmental glomerulosclerosis 2
transient receptor protein 6

NCBI Reference Sequences (RefSeq)

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_011476.2 RefSeqGene

    Range
    4922..137365
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_004621.6NP_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, AP003080
    Consensus CDS
    CCDS8311.1
    UniProtKB/Swiss-Prot
    Q9Y210
    Related
    ENSP00000340913.3, ENST00000344327.8
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    101451470..101584007 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, 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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