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Entry version 183 (11 Dec 2019)
Sequence version 1 (01 Nov 1999)
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Protein

Short transient receptor potential channel 6

Gene

TRPC6

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

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.3 Publications

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Molecular functionCalcium channel, Ion channel
Biological processCalcium transport, Ion transport, Transport
LigandCalcium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-114508 Effects of PIP2 hydrolysis
R-HSA-139853 Elevation of cytosolic Ca2+ levels
R-HSA-3295583 TRP channels
R-HSA-418890 Role of second messengers in netrin-1 signaling

SIGNOR Signaling Network Open Resource

More...
SIGNORi
Q9Y210

Protein family/group databases

Transport Classification Database

More...
TCDBi
1.A.4.1.5 the transient receptor potential ca(2+) channel (trp-cc) family

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Short transient receptor potential channel 6
Short name:
TrpC61 Publication
Alternative name(s):
Transient receptor protein 6
Short name:
TRP-6
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:TRPC61 PublicationImported
Synonyms:TRP61 Publication
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...
EuPathDBi
HostDB:ENSG00000137672.12

Human Gene Nomenclature Database

More...
HGNCi
HGNC:12338 TRPC6

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
603652 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9Y210

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 438CytoplasmicSequence analysisAdd BLAST438
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei439 – 459HelicalSequence analysisAdd BLAST21
Topological domaini460 – 487ExtracellularSequence analysisAdd BLAST28
Transmembranei488 – 508HelicalSequence analysisAdd BLAST21
Topological domaini509 – 521CytoplasmicSequence analysisAdd BLAST13
Transmembranei522 – 542HelicalSequence analysisAdd BLAST21
Topological domaini543 – 592ExtracellularSequence analysisAdd BLAST50
Transmembranei593 – 613HelicalSequence analysisAdd BLAST21
Topological domaini614 – 636CytoplasmicSequence analysisAdd BLAST23
Transmembranei637 – 657HelicalSequence analysisAdd BLAST21
Topological domaini658 – 706ExtracellularSequence analysisAdd BLAST49
Transmembranei707 – 727HelicalSequence analysisAdd BLAST21
Topological domaini728 – 931CytoplasmicSequence analysisAdd BLAST204

Keywords - Cellular componenti

Cell membrane, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Focal segmental glomerulosclerosis 2 (FSGS2)11 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_07978588F → FAYMF in FSGS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_079786109G → S in FSGS2; increases calcium ion transport. 2 Publications1
Natural variantiVAR_026730112P → Q in FSGS2; increases calcium ion transport. 2 PublicationsCorresponds to variant dbSNP:rs121434390EnsemblClinVar.1
Natural variantiVAR_067247125N → S in FSGS2; unknown pathological significance; decreases calcium ion transport. 3 PublicationsCorresponds to variant dbSNP:rs146776939Ensembl.1
Natural variantiVAR_026731143N → S in FSGS2; increases cation channel activity; does not change the outward peak current; increases significantly the inward peak current amplitude; increases calcium ion transport. 3 PublicationsCorresponds to variant dbSNP:rs121434391EnsemblClinVar.1
Natural variantiVAR_079787175R → Q in FSGS2; increases cation channel activity; does not change plasma membrane expression; increases calcium ion transport. 2 PublicationsCorresponds to variant dbSNP:rs1451194842Ensembl.1
Natural variantiVAR_067248218H → L in FSGS2; increases calcium ion transport. 2 PublicationsCorresponds to variant dbSNP:rs779430565Ensembl.1
Natural variantiVAR_026732270S → T in FSGS2. 3 PublicationsCorresponds to variant dbSNP:rs121434392EnsemblClinVar.1
Natural variantiVAR_079788360R → H in FSGS2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs777715086EnsemblClinVar.1
Natural variantiVAR_079789395L → A in FSGS2; unknown pathological significance; requires 2 nucleotide substitutions; decreases calcium ion transport. 2 Publications1
Natural variantiVAR_079790757G → D in FSGS2; decreases calcium ion transport; does not change localization at cell membrane; does not affect homodimer formation. 2 Publications1
Natural variantiVAR_079791780L → P in FSGS2; unknown pathological significance; decreases calcium ion transport. 2 PublicationsCorresponds to variant dbSNP:rs771594597Ensembl.1
Natural variantiVAR_079792874 – 931Missing in FSGS2. 1 PublicationAdd BLAST58
Natural variantiVAR_026733895R → C in FSGS2; increases cation channel activity; does not change plasma membrane expression; significantly reduces the ratio of cell-surface to total expression; increases calcium ion transport. 4 PublicationsCorresponds to variant dbSNP:rs121434394EnsemblClinVar.1
Natural variantiVAR_067249895R → L in FSGS2; decreases calcium ion transport. 2 Publications1
Natural variantiVAR_026734897E → K in FSGS2; increases calcium ion transport. 3 PublicationsCorresponds to variant dbSNP:rs121434395EnsemblClinVar.1
Natural variantiVAR_079793897Missing in FSGS2. 1 Publication1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi110N → H: Increases calcium ion transport. 1 Publication1
Mutagenesisi125N → A: No effect on RNF24-binding; when associated with A-127; A-128 and A-130. 1 Publication1
Mutagenesisi127N → A: No effect on RNF24-binding; when associated with A-125; A-128 and A-130. 1 Publication1
Mutagenesisi128C → A: No effect on RNF24-binding; when associated with A-125; A-127 and A-130. 1 Publication1
Mutagenesisi130D → A: No effect on RNF24-binding; when associated with A-125; A-127 and A-128. 1 Publication1
Mutagenesisi132M → T: Increases cation channel activity. Increases significantly inward and outward currents and does not show channel inactivation. Increases calcium ion transport. 2 Publications1
Mutagenesisi561N → Q: Constitutively activates channel. 1 Publication1
Mutagenesisi755 – 757EEG → KKR: Decreases calcium ion transport. 1 Publication3
Mutagenesisi755 – 756EE → KK: Increases calcium ion transport. 1 Publication2
Mutagenesisi826 – 827KK → EE: Decreases calcium ion transport. 1 Publication2
Mutagenesisi889Q → K: Increases calcium transport. Increases calcium ion transport. 2 Publications1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

More...
DisGeNETi
7225

MalaCards human disease database

More...
MalaCardsi
TRPC6
MIMi603965 phenotype

Open Targets

More...
OpenTargetsi
ENSG00000137672

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...
Orphaneti
93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...
PharmGKBi
PA37011

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...
Pharosi
Q9Y210 Tchem

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...
ChEMBLi
CHEMBL2417347

IUPHAR/BPS Guide to PHARMACOLOGY

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GuidetoPHARMACOLOGYi
491

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
TRPC6

Domain mapping of disease mutations (DMDM)

More...
DMDMi
6686048

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00002153221 – 931Short transient receptor potential channel 6Add BLAST931

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi473N-linked (GlcNAc...) asparagine1 Publication1
Glycosylationi561N-linked (GlcNAc...) asparagine1 Publication1
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei815PhosphoserineCombined sources1

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Phosphorylated by FYN, leading to an increase of TRPC6 channel activity.By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
Q9Y210

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9Y210

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q9Y210

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
Q9Y210

PeptideAtlas

More...
PeptideAtlasi
Q9Y210

PRoteomics IDEntifications database

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PRIDEi
Q9Y210

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
85580 [Q9Y210-1]
85581 [Q9Y210-2]
85582 [Q9Y210-3]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
2074

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9Y210

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...
PhosphoSitePlusi
Q9Y210

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Expressed primarily in placenta, lung, spleen, ovary and small intestine. Expressed in podocytes and is a component of the glomerular slit diaphragm.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000137672 Expressed in 113 organ(s), highest expression level in lower esophagus muscularis layer

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9Y210 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9Y210 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA045098

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer; forms channel complex (PubMed:26892346).

Interacts with MX1 and RNF24 (PubMed:15757897, PubMed:17850865).

3 Publications

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
P205914EBI-929362,EBI-929476

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
113076, 12 interactors

Protein interaction database and analysis system

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IntActi
Q9Y210, 2 interactors

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000340913

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q9Y210

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...
RNActi
Q9Y210 protein

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

SWISS-MODEL Repository - a database of annotated 3D protein structure models

More...
SMRi
Q9Y210

Database of comparative protein structure models

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ModBasei
Search...

Protein Data Bank in Europe - Knowledge Base

More...
PDBe-KBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati97 – 126ANK 1Add BLAST30
Repeati132 – 161ANK 2Add BLAST30
Repeati163 – 189ANK 3Add BLAST27
Repeati218 – 247ANK 4Add BLAST30

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Keywords - Domaini

ANK repeat, Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3609 Eukaryota
ENOG410XQ0Y LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00950000182670

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000020590

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9Y210

KEGG Orthology (KO)

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KOi
K04969

Identification of Orthologs from Complete Genome Data

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OMAi
QHDDFYA

Database of Orthologous Groups

More...
OrthoDBi
115892at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
Q9Y210

TreeFam database of animal gene trees

More...
TreeFami
TF313147

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

More...
Gene3Di
1.25.40.20, 1 hit

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR005821 Ion_trans_dom
IPR013555 TRP_dom
IPR005462 TRPC6_channel
IPR002153 TRPC_channel

The PANTHER Classification System

More...
PANTHERi
PTHR10117 PTHR10117, 1 hit
PTHR10117:SF7 PTHR10117:SF7, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF12796 Ank_2, 1 hit
PF00520 Ion_trans, 1 hit
PF08344 TRP_2, 1 hit

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01097 TRNSRECEPTRP
PR01647 TRPCHANNEL6

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00248 ANK, 3 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF48403 SSF48403, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS50297 ANK_REP_REGION, 2 hits
PS50088 ANK_REPEAT, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (3+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q9Y210-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the <div> <p><b>What is the canonical sequence?</b><p><a href='/help/canonical_and_isoforms' target='_top'>More...</a></p>canonicali sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MSQSPAFGPR RGSSPRGAAG AAARRNESQD YLLMDSELGE DGCPQAPLPC
60 70 80 90 100
YGYYPCFRGS DNRLAHRRQT VLREKGRRLA NRGPAYMFSD RSTSLSIEEE
110 120 130 140 150
RFLDAAEYGN IPVVRKMLEE CHSLNVNCVD YMGQNALQLA VANEHLEITE
160 170 180 190 200
LLLKKENLSR VGDALLLAIS KGYVRIVEAI LSHPAFAEGK RLATSPSQSE
210 220 230 240 250
LQQDDFYAYD EDGTRFSHDV TPIILAAHCQ EYEIVHTLLR KGARIERPHD
260 270 280 290 300
YFCKCNDCNQ KQKHDSFSHS RSRINAYKGL ASPAYLSLSS EDPVMTALEL
310 320 330 340 350
SNELAVLANI EKEFKNDYKK LSMQCKDFVV GLLDLCRNTE EVEAILNGDV
360 370 380 390 400
ETLQSGDHGR PNLSRLKLAI KYEVKKFVAH PNCQQQLLSI WYENLSGLRQ
410 420 430 440 450
QTMAVKFLVV LAVAIGLPFL ALIYWFAPCS KMGKIMRGPF MKFVAHAASF
460 470 480 490 500
TIFLGLLVMN AADRFEGTKL LPNETSTDNA KQLFRMKTSC FSWMEMLIIS
510 520 530 540 550
WVIGMIWAEC KEIWTQGPKE YLFELWNMLD FGMLAIFAAS FIARFMAFWH
560 570 580 590 600
ASKAQSIIDA NDTLKDLTKV TLGDNVKYYN LARIKWDPSD PQIISEGLYA
610 620 630 640 650
IAVVLSFSRI AYILPANESF GPLQISLGRT VKDIFKFMVI FIMVFVAFMI
660 670 680 690 700
GMFNLYSYYI GAKQNEAFTT VEESFKTLFW AIFGLSEVKS VVINYNHKFI
710 720 730 740 750
ENIGYVLYGV YNVTMVIVLL NMLIAMINSS FQEIEDDADV EWKFARAKLW
760 770 780 790 800
FSYFEEGRTL PVPFNLVPSP KSLFYLLLKL KKWISELFQG HKKGFQEDAE
810 820 830 840 850
MNKINEEKKL GILGSHEDLS KLSLDKKQVG HNKQPSIRSS EDFHLNSFNN
860 870 880 890 900
PPRQYQKIMK RLIKRYVLQA QIDKESDEVN EGELKEIKQD ISSLRYELLE
910 920 930
EKSQNTEDLA ELIRELGEKL SMEPNQEETN R
Length:931
Mass (Da):106,326
Last modified:November 1, 1999 - v1
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i7C955C2B0389AC47
GO
Isoform 2 (identifier: Q9Y210-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     316-431: Missing.

Show »
Length:815
Mass (Da):93,187
Checksum:i2E78B50F956CBF0D
GO
Isoform 3 (identifier: Q9Y210-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     377-431: Missing.

Show »
Length:876
Mass (Da):100,106
Checksum:i8A1F52196619E147
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
E9PJN4E9PJN4_HUMAN
Short transient receptor potential ...
TRPC6
853Annotation score:

Annotation score:2 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti336C → R in CAC01686 (PubMed:10816590).Curated1
Sequence conflicti585K → R in CAC06090 (Ref. 5) Curated1
Sequence conflicti613I → T in CAC01686 (PubMed:10816590).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07978415P → S Polymorphism. 2 PublicationsCorresponds to variant dbSNP:rs3802829EnsemblClinVar.1
Natural variantiVAR_07978588F → FAYMF in FSGS2; unknown pathological significance. 1 Publication1
Natural variantiVAR_079786109G → S in FSGS2; increases calcium ion transport. 2 Publications1
Natural variantiVAR_026730112P → Q in FSGS2; increases calcium ion transport. 2 PublicationsCorresponds to variant dbSNP:rs121434390EnsemblClinVar.1
Natural variantiVAR_067247125N → S in FSGS2; unknown pathological significance; decreases calcium ion transport. 3 PublicationsCorresponds to variant dbSNP:rs146776939Ensembl.1
Natural variantiVAR_026731143N → S in FSGS2; increases cation channel activity; does not change the outward peak current; increases significantly the inward peak current amplitude; increases calcium ion transport. 3 PublicationsCorresponds to variant dbSNP:rs121434391EnsemblClinVar.1
Natural variantiVAR_038419157N → T. Corresponds to variant dbSNP:rs35857503Ensembl.1
Natural variantiVAR_079787175R → Q in FSGS2; increases cation channel activity; does not change plasma membrane expression; increases calcium ion transport. 2 PublicationsCorresponds to variant dbSNP:rs1451194842Ensembl.1
Natural variantiVAR_067248218H → L in FSGS2; increases calcium ion transport. 2 PublicationsCorresponds to variant dbSNP:rs779430565Ensembl.1
Natural variantiVAR_026732270S → T in FSGS2. 3 PublicationsCorresponds to variant dbSNP:rs121434392EnsemblClinVar.1
Natural variantiVAR_079788360R → H in FSGS2; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs777715086EnsemblClinVar.1
Natural variantiVAR_079789395L → A in FSGS2; unknown pathological significance; requires 2 nucleotide substitutions; decreases calcium ion transport. 2 Publications1
Natural variantiVAR_061861404A → V Polymorphism; increases calcium ion transport. 3 PublicationsCorresponds to variant dbSNP:rs36111323EnsemblClinVar.1
Natural variantiVAR_079790757G → D in FSGS2; decreases calcium ion transport; does not change localization at cell membrane; does not affect homodimer formation. 2 Publications1
Natural variantiVAR_079791780L → P in FSGS2; unknown pathological significance; decreases calcium ion transport. 2 PublicationsCorresponds to variant dbSNP:rs771594597Ensembl.1
Natural variantiVAR_079792874 – 931Missing in FSGS2. 1 PublicationAdd BLAST58
Natural variantiVAR_026733895R → C in FSGS2; increases cation channel activity; does not change plasma membrane expression; significantly reduces the ratio of cell-surface to total expression; increases calcium ion transport. 4 PublicationsCorresponds to variant dbSNP:rs121434394EnsemblClinVar.1
Natural variantiVAR_067249895R → L in FSGS2; decreases calcium ion transport. 2 Publications1
Natural variantiVAR_026734897E → K in FSGS2; increases calcium ion transport. 3 PublicationsCorresponds to variant dbSNP:rs121434395EnsemblClinVar.1
Natural variantiVAR_079793897Missing in FSGS2. 1 Publication1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_006572316 – 431Missing in isoform 2. 1 PublicationAdd BLAST116
Alternative sequenceiVSP_006573377 – 431Missing in isoform 3. 1 PublicationAdd BLAST55

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF080394 mRNA Translation: AAC63289.2
AJ006276 mRNA Translation: CAA06943.1
AJ271066 mRNA Translation: CAC01684.1
AJ271067 mRNA Translation: CAC01685.1
AJ271068 mRNA Translation: CAC01686.1
BC093658 mRNA Translation: AAH93658.1
BC093660 mRNA Translation: AAH93660.1
AJ007018 mRNA Translation: CAC06090.1

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS8311.1 [Q9Y210-1]

NCBI Reference Sequences

More...
RefSeqi
NP_004612.2, NM_004621.5 [Q9Y210-1]
XP_016873710.1, XM_017018221.1 [Q9Y210-2]

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000344327; ENSP00000340913; ENSG00000137672 [Q9Y210-1]
ENST00000348423; ENSP00000343672; ENSG00000137672 [Q9Y210-2]
ENST00000360497; ENSP00000353687; ENSG00000137672 [Q9Y210-3]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
7225

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:7225

UCSC genome browser

More...
UCSCi
uc001pgk.4 human [Q9Y210-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF080394 mRNA Translation: AAC63289.2
AJ006276 mRNA Translation: CAA06943.1
AJ271066 mRNA Translation: CAC01684.1
AJ271067 mRNA Translation: CAC01685.1
AJ271068 mRNA Translation: CAC01686.1
BC093658 mRNA Translation: AAH93658.1
BC093660 mRNA Translation: AAH93660.1
AJ007018 mRNA Translation: CAC06090.1
CCDSiCCDS8311.1 [Q9Y210-1]
RefSeqiNP_004612.2, NM_004621.5 [Q9Y210-1]
XP_016873710.1, XM_017018221.1 [Q9Y210-2]

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5YX9electron microscopy3.80A/B/C/D1-931[»]
SMRiQ9Y210
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGridi113076, 12 interactors
IntActiQ9Y210, 2 interactors
STRINGi9606.ENSP00000340913

Chemistry databases

BindingDBiQ9Y210
ChEMBLiCHEMBL2417347
GuidetoPHARMACOLOGYi491

Protein family/group databases

TCDBi1.A.4.1.5 the transient receptor potential ca(2+) channel (trp-cc) family

PTM databases

GlyConnecti2074
iPTMnetiQ9Y210
PhosphoSitePlusiQ9Y210

Polymorphism and mutation databases

BioMutaiTRPC6
DMDMi6686048

Proteomic databases

EPDiQ9Y210
jPOSTiQ9Y210
MassIVEiQ9Y210
PaxDbiQ9Y210
PeptideAtlasiQ9Y210
PRIDEiQ9Y210
ProteomicsDBi85580 [Q9Y210-1]
85581 [Q9Y210-2]
85582 [Q9Y210-3]

Genome annotation databases

EnsembliENST00000344327; ENSP00000340913; ENSG00000137672 [Q9Y210-1]
ENST00000348423; ENSP00000343672; ENSG00000137672 [Q9Y210-2]
ENST00000360497; ENSP00000353687; ENSG00000137672 [Q9Y210-3]
GeneIDi7225
KEGGihsa:7225
UCSCiuc001pgk.4 human [Q9Y210-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
7225
DisGeNETi7225
EuPathDBiHostDB:ENSG00000137672.12

GeneCards: human genes, protein and diseases

More...
GeneCardsi
TRPC6
HGNCiHGNC:12338 TRPC6
HPAiHPA045098
MalaCardsiTRPC6
MIMi603652 gene
603965 phenotype
neXtProtiNX_Q9Y210
OpenTargetsiENSG00000137672
Orphaneti93213 Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
PharmGKBiPA37011

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3609 Eukaryota
ENOG410XQ0Y LUCA
GeneTreeiENSGT00950000182670
HOGENOMiHOG000020590
InParanoidiQ9Y210
KOiK04969
OMAiQHDDFYA
OrthoDBi115892at2759
PhylomeDBiQ9Y210
TreeFamiTF313147

Enzyme and pathway databases

ReactomeiR-HSA-114508 Effects of PIP2 hydrolysis
R-HSA-139853 Elevation of cytosolic Ca2+ levels
R-HSA-3295583 TRP channels
R-HSA-418890 Role of second messengers in netrin-1 signaling
SIGNORiQ9Y210

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
TRPC6 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
TRPC6

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
7225
PharosiQ9Y210 Tchem

Protein Ontology

More...
PROi
PR:Q9Y210
RNActiQ9Y210 protein

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000137672 Expressed in 113 organ(s), highest expression level in lower esophagus muscularis layer
ExpressionAtlasiQ9Y210 baseline and differential
GenevisibleiQ9Y210 HS

Family and domain databases

Gene3Di1.25.40.20, 1 hit
InterProiView protein in InterPro
IPR002110 Ankyrin_rpt
IPR020683 Ankyrin_rpt-contain_dom
IPR036770 Ankyrin_rpt-contain_sf
IPR005821 Ion_trans_dom
IPR013555 TRP_dom
IPR005462 TRPC6_channel
IPR002153 TRPC_channel
PANTHERiPTHR10117 PTHR10117, 1 hit
PTHR10117:SF7 PTHR10117:SF7, 1 hit
PfamiView protein in Pfam
PF12796 Ank_2, 1 hit
PF00520 Ion_trans, 1 hit
PF08344 TRP_2, 1 hit
PRINTSiPR01097 TRNSRECEPTRP
PR01647 TRPCHANNEL6
SMARTiView protein in SMART
SM00248 ANK, 3 hits
SUPFAMiSSF48403 SSF48403, 1 hit
PROSITEiView protein in PROSITE
PS50297 ANK_REP_REGION, 2 hits
PS50088 ANK_REPEAT, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiTRPC6_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9Y210
Secondary accession number(s): Q52M59
, Q9HCW3, Q9NQA8, Q9NQA9
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: May 30, 2000
Last sequence update: November 1, 1999
Last modified: December 11, 2019
This is version 183 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Reference proteome

Documents

  1. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  2. SIMILARITY comments
    Index of protein domains and families
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
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