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

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; AllianceGenome:HGNC:12338
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: mouse all
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Genomic context

Location:: 11q22.1

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	11	NC_000011.10 (101451564..101584007, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	11	NC_060935.1 (101461274..101593486, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	11	NC_000011.9 (101322295..101454738, complement)

Chromosome 11 - NC_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Immunohistochemical expression of the cation channel TRPC6 in the submandibular and lacrimal gland and in salivary gland tumors.
Title: Immunohistochemical expression of the cation channel TRPC6 in the submandibular and lacrimal gland and in salivary gland tumors.
Renal ischaemia-reperfusion injury is promoted by transcription factor NF-kB p65, which inhibits TRPC6 expression by activating miR-150.
Title: Renal ischaemia-reperfusion injury is promoted by transcription factor NF-kB p65, which inhibits TRPC6 expression by activating miR-150.
[Expansion of the genotypic and phenotypic spectrum and treatment of four children with Steroid-resistant nephrotic syndrome due to variants of TRPC6 gene].
Title: [Expansion of the genotypic and phenotypic spectrum and treatment of four children with Steroid-resistant nephrotic syndrome due to variants of TRPC6 gene].
The Multifunctional TRPC6 Protein: Significance in the Field of Cardiovascular Studies.
Title: The Multifunctional TRPC6 Protein: Significance in the Field of Cardiovascular Studies.
TRPC6 Deletion Enhances eNOS Expression and Reduces LPS-Induced Acute Lung Injury.
Title: TRPC6 Deletion Enhances eNOS Expression and Reduces LPS-Induced Acute Lung Injury.
A Putative Role for TRPC6 in Immune-Mediated Kidney Injury.
Title: A Putative Role for TRPC6 in Immune-Mediated Kidney Injury.
An inactivating human TRPC6 channel mutation without focal segmental glomerulosclerosis.
Title: An inactivating human TRPC6 channel mutation without focal segmental glomerulosclerosis.
Familial systemic lupus erythematosus associated with a loss-of-function mutation in TRPC6.
Title: Familial systemic lupus erythematosus associated with a loss-of-function mutation in TRPC6.
Improvement of platelet preservation by inhibition of TRPC6.
Title: Improvement of platelet preservation by inhibition of TRPC6.
Is Zn[2+] the new Ca[2+] for TRPC6 channels in the myocardium?
Title: Is Zn(2+) the new Ca(2+) for TRPC6 channels in the myocardium?

Submit: New GeneRIF Correction See all GeneRIFs (198)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

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

EBI GWAS Catalog

Description
Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-57985 (e-PCR)
- UniSTS:6154

D11S2002 (e-PCR), detects polymorphism
- UniSTS:28329

D11S1986 (e-PCR)
- UniSTS:29393

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables calcium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables calcium channel activity	TAS Traceable Author Statement more info
enables inositol 1,4,5 trisphosphate binding	IBA Inferred from Biological aspect of Ancestor more info
enables inositol 1,4,5 trisphosphate binding	IDA Inferred from Direct Assay more info	PubMed
enables monoatomic cation channel activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein homodimerization activity	IDA Inferred from Direct Assay more info	PubMed
enables store-operated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info

Process	Evidence Code	Pubs
involved_in calcium ion transmembrane transport	IBA Inferred from Biological aspect of Ancestor more info
involved_in calcium ion transmembrane transport	TAS Traceable Author Statement more info
involved_in monoatomic cation transport	TAS Traceable Author Statement more info	PubMed
acts_upstream_of_or_within positive regulation of calcium ion transport	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of cytosolic calcium ion concentration	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within positive regulation of ion transmembrane transporter activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of cytosolic calcium ion concentration	IBA Inferred from Biological aspect of Ancestor more info
involved_in single fertilization	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
part_of cation channel complex	IBA Inferred from Biological aspect of Ancestor more info
located_in cytoplasm	IDA Inferred from Direct Assay more info	PubMed
located_in membrane	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in slit diaphragm	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: short transient receptor potential channel 6

Names: TRP-6; focal segmental glomerulosclerosis 2; transient receptor protein 6

NCBI Reference Sequences (RefSeq)

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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

NG_011476.2 RefSeqGene

Range

4922..137365

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_004621.6 → NP_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

Q52M59, Q9HCW3, Q9NQA8, Q9NQA9, Q9Y210

UniProtKB/TrEMBL

E9PJN4

Related

ENSP00000340913.3, ENST00000344327.8

Conserved Domains (2) summary

TIGR00870
Location:82 → 897

trp; transient-receptor-potential calcium channel protein

sd00045
Location:132 → 159

ANK; ANK repeat [structural motif]

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

101451564..101584007 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_047427509.1 → XP_047283465.1 short transient receptor potential channel 6 isoform X2

UniProtKB/TrEMBL

E9PJN4
XM_017018221.3 → XP_016873710.1 short transient receptor potential channel 6 isoform X4

UniProtKB/TrEMBL

E9PJN4

Related

ENSP00000343672.4, ENST00000348423.8

Conserved Domains (4) summary

cd00204
Location:105 → 239

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:82 → 781

trp; transient-receptor-potential calcium channel protein

pfam08344
Location:253 → 312

TRP_2; Transient receptor ion channel II

sd00045
Location:132 → 159

ANK; ANK repeat [structural motif]
XM_047427511.1 → XP_047283467.1 short transient receptor potential channel 6 isoform X2

UniProtKB/TrEMBL

E9PJN4
XM_011542968.4 → XP_011541270.1 short transient receptor potential channel 6 isoform X1

UniProtKB/TrEMBL

E9PJN4

Conserved Domains (2) summary

TIGR00870
Location:27 → 842

trp; transient-receptor-potential calcium channel protein

sd00045
Location:77 → 104

ANK; ANK repeat [structural motif]
XM_047427510.1 → XP_047283466.1 short transient receptor potential channel 6 isoform X3

UniProtKB/TrEMBL

E9PJN4

Alternate T2T-CHM13v2.0

Genomic

NC_060935.1 Alternate T2T-CHM13v2.0

Range

101461274..101593486 complement

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054369803.1 → XP_054225778.1 short transient receptor potential channel 6 isoform X4

UniProtKB/TrEMBL

E9PJN4
XM_054369801.1 → XP_054225776.1 short transient receptor potential channel 6 isoform X1

UniProtKB/TrEMBL

E9PJN4
XM_054369802.1 → XP_054225777.1 short transient receptor potential channel 6 isoform X3

UniProtKB/TrEMBL

E9PJN4