ENSG00000137672


Homo sapiens

Features
Gene ID: ENSG00000137672
  
Biological name :TRPC6
  
Synonyms : Q9Y210 / transient receptor potential cation channel subfamily C member 6 / TRPC6
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 11
Strand: -1
Band: q22.1
Gene start: 101451564
Gene end: 101872562
  
Corresponding Affymetrix probe sets: 206528_at (Human Genome U133 Plus 2.0 Array)   217287_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000353687
Ensembl peptide - ENSP00000435574
Ensembl peptide - ENSP00000340913
Ensembl peptide - ENSP00000343672
NCBI entrez gene - 7225     See in Manteia.
OMIM - 603652
RefSeq - XM_017018221
RefSeq - XM_017018222
RefSeq - NM_004621
RefSeq - XM_011542968
RefSeq Peptide - NP_004612
swissprot - Q9Y210
swissprot - E9PJN4
Ensembl - ENSG00000137672
  
Related genetic diseases (OMIM): 603965 - Glomerulosclerosis, focal segmental, 2, 603965
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 trpc6aENSDARG00000056625Danio rerio
 trpc6bENSDARG00000067730Danio rerio
 TRPC6ENSGALG00000029416Gallus gallus
 Trpc6ENSMUSG00000031997Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TRPC7 / Q9HCX4 / transient receptor potential cation channel subfamily C member 7ENSG0000006901869
TRPC3 / Q13507 / transient receptor potential cation channel subfamily C member 3ENSG0000013874168
TRPC4 / Q9UBN4 / transient receptor potential cation channel subfamily C member 4ENSG0000013310735
TRPC5 / Q9UL62 / transient receptor potential cation channel subfamily C member 5ENSG0000007231534
TRPC1 / P48995 / transient receptor potential cation channel subfamily C member 1ENSG0000014493531


Protein motifs (from Interpro)
Interpro ID Name
 IPR002110  Ankyrin repeat
 IPR002153  Transient receptor potential channel, canonical
 IPR004729  Transient receptor potential channel
 IPR005462  Transient receptor potential channel, canonical 6
 IPR005821  Ion transport domain
 IPR013555  Transient receptor ion channel domain
 IPR020683  Ankyrin repeat-containing domain
 IPR036770  Ankyrin repeat-containing domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006811 ion transport IEA
 biological_processGO:0006812 cation transport TAS
 biological_processGO:0006816 calcium ion transport IEA
 biological_processGO:0006828 manganese ion transport IBA
 biological_processGO:0007204 positive regulation of cytosolic calcium ion concentration IEA
 biological_processGO:0007338 single fertilization IBA
 biological_processGO:0007568 aging IEA
 biological_processGO:0010800 positive regulation of peptidyl-threonine phosphorylation IEA
 biological_processGO:0030168 platelet activation TAS
 biological_processGO:0030182 neuron differentiation IEA
 biological_processGO:0032414 positive regulation of ion transmembrane transporter activity IDA
 biological_processGO:0045666 positive regulation of neuron differentiation IEA
 biological_processGO:0050774 negative regulation of dendrite morphogenesis IEA
 biological_processGO:0051480 regulation of cytosolic calcium ion concentration IBA
 biological_processGO:0051928 positive regulation of calcium ion transport IDA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0070301 cellular response to hydrogen peroxide IEA
 biological_processGO:0070588 calcium ion transmembrane transport TAS
 biological_processGO:0071456 cellular response to hypoxia IEA
 cellular_componentGO:0005737 cytoplasm IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IBA
 cellular_componentGO:0016020 membrane IDA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0036057 slit diaphragm IEA
 molecular_functionGO:0003779 actin binding IEA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005261 cation channel activity IDA
 molecular_functionGO:0005262 calcium channel activity TAS
 molecular_functionGO:0005515 protein binding IPI
 molecular_functionGO:0015279 store-operated calcium channel activity IBA
 molecular_functionGO:0030276 clathrin binding IEA
 molecular_functionGO:0042803 protein homodimerization activity IDA
 molecular_functionGO:0042805 actinin binding IEA
 molecular_functionGO:0051117 ATPase binding IEA
 molecular_functionGO:0070679 inositol 1,4,5 trisphosphate binding IDA


Pathways (from Reactome)
Pathway description
Effects of PIP2 hydrolysis
Elevation of cytosolic Ca2+ levels
TRP channels
Role of second messengers in netrin-1 signaling


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000093 Proteinuria 
Show

 HP:0000097 Focal segmental glomerulosclerosis 
Show

 HP:0000100 Nephrotic syndrome 
Show

 HP:0012622 Chronic kidney disease "Functional anomaly of the kidney persisting for at least three months." [Eurenomics:ewuehl]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000072315 TRPC5 / Q9UL62 / transient receptor potential cation channel subfamily C member 5  / complex
 ENSG00000144935 TRPC1 / P48995 / transient receptor potential cation channel subfamily C member 1  / complex
 ENSG00000133107 TRPC4 / Q9UBN4 / transient receptor potential cation channel subfamily C member 4  / complex






 

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