ENSG00000138741


Homo sapiens

Features
Gene ID: ENSG00000138741
  
Biological name :TRPC3
  
Synonyms : Q13507 / transient receptor potential cation channel subfamily C member 3 / TRPC3
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 4
Strand: -1
Band: q27
Gene start: 121879027
Gene end: 121951754
  
Corresponding Affymetrix probe sets: 206425_s_at (Human Genome U133 Plus 2.0 Array)   210814_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000426899
Ensembl peptide - ENSP00000368966
Ensembl peptide - ENSP00000422214
Ensembl peptide - ENSP00000423866
Ensembl peptide - ENSP00000264811
NCBI entrez gene - 7222     See in Manteia.
OMIM - 602345
RefSeq - XM_017008579
RefSeq - NM_001130698
RefSeq - NM_003305
RefSeq - XM_011532217
RefSeq - XM_011532218
RefSeq - XM_017008578
RefSeq Peptide - NP_003296
RefSeq Peptide - NP_001124170
swissprot - D6RC49
swissprot - J3QTB0
swissprot - Q13507
swissprot - D6R902
Ensembl - ENSG00000138741
  
Related genetic diseases (OMIM): 616410 - ?Spinocerebellar ataxia 41, 616410
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
 trpc3ENSDARG00000098291Danio rerio
 TRPC3ENSGALG00000011875Gallus gallus
 Trpc3ENSMUSG00000027716Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
TRPC7 / Q9HCX4 / transient receptor potential cation channel subfamily C member 7ENSG0000006901874
TRPC6 / Q9Y210 / transient receptor potential cation channel subfamily C member 6ENSG0000013767269
TRPC5 / Q9UL62 / transient receptor potential cation channel subfamily C member 5ENSG0000007231535
TRPC4 / Q9UBN4 / transient receptor potential cation channel subfamily C member 4ENSG0000013310734
TRPC1 / P48995 / transient receptor potential cation channel subfamily C member 1ENSG0000014493530


Protein motifs (from Interpro)
Interpro ID Name
 IPR002110  Ankyrin repeat
 IPR002153  Transient receptor potential channel, canonical
 IPR004729  Transient receptor potential channel
 IPR005459  Transient receptor potential channel, canonical 3
 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:0006816 calcium ion transport TAS
 biological_processGO:0006828 manganese ion transport IBA
 biological_processGO:0007338 single fertilization IBA
 biological_processGO:0007602 phototransduction TAS
 biological_processGO:0010524 positive regulation of calcium ion transport into cytosol IDA
 biological_processGO:0030168 platelet activation TAS
 biological_processGO:0033198 response to ATP IDA
 biological_processGO:0051592 response to calcium ion IDA
 biological_processGO:0055085 transmembrane transport IEA
 biological_processGO:0070588 calcium ion transmembrane transport IEA
 biological_processGO:1903244 positive regulation of cardiac muscle hypertrophy in response to stress IDA
 cellular_componentGO:0005886 plasma membrane TAS
 cellular_componentGO:0005887 integral component of plasma membrane IDA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 molecular_functionGO:0005216 ion channel activity IEA
 molecular_functionGO:0005262 calcium channel activity IEA
 molecular_functionGO:0005515 protein binding IEA
 molecular_functionGO:0015279 store-operated calcium channel activity TAS
 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:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
Show

 HP:0001272 Cerebellar atrophy 
Show

 HP:0002066 Gait ataxia "Impairment of the ability to coordinate the movements required for normal walking." [HPO:curators]
Show

 HP:0002172 Postural instability 
Show

 HP:0002317 Unsteady gait 
Show

 HP:0003581 Onset in adulthood 
Show

 HP:0003676 Progressive disorder 
Show

 HP:0006855 Cerebellar vermis atrophy 
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






 

0 s.

 
External programs and data are copyrighted by and are the property of their respective authors.
The Manteia system, data and analyses are provided "as is" with no warranties, expressed or implied as to capabilities or accuracy. User assumes the entire risk as to the results and performance of the software, data and documentation


                   

© Olivier Tassy / Olivier Pourquie 2007-2024
contact: otassy@igbmc.fr