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Aliases for TRPC3 Gene

Aliases for TRPC3 Gene

  • Transient Receptor Potential Cation Channel Subfamily C Member 3 2 3 5
  • Transient Receptor Protein 3 3 4
  • HTrp-3 3 4
  • TRP3 3 4
  • Transient Receptor Potential Cation Channel Subfamily C Member 3 Variant C 3
  • Transient Receptor Potential Cation Channel, Subfamily C, Member 3 2
  • Short Transient Receptor Potential Channel 3 3
  • SCA41 3
  • TRP-3 4
  • TrpC3 4
  • HTrp3 4

External Ids for TRPC3 Gene

Previous GeneCards Identifiers for TRPC3 Gene

  • GC04M123725
  • GC04M123079
  • GC04M123193
  • GC04M123259
  • GC04M123158
  • GC04M122800
  • GC04M118526

Summaries for TRPC3 Gene

Entrez Gene Summary for TRPC3 Gene

  • The protein encoded by this gene is a membrane protein that can form a non-selective channel permeable to calcium and other cations. The encoded protein appears to be induced to form channels by a receptor tyrosine kinase-activated phosphatidylinositol second messenger system and also by depletion of intracellular calcium stores. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]

GeneCards Summary for TRPC3 Gene

TRPC3 (Transient Receptor Potential Cation Channel Subfamily C Member 3) is a Protein Coding gene. Diseases associated with TRPC3 include Spinocerebellar Ataxia 41 and Sialolithiasis. Among its related pathways are Platelet homeostasis and Response to elevated platelet cytosolic Ca2+. Gene Ontology (GO) annotations related to this gene include binding and calcium channel activity. An important paralog of this gene is TRPC7.

UniProtKB/Swiss-Prot for TRPC3 Gene

  • Thought to form a receptor-activated non-selective calcium permeant cation channel. 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, and by inositol 1,4,5-triphosphate receptors (ITPR) with bound IP3. May also be activated by internal calcium store depletion.

Gene Wiki entry for TRPC3 Gene

Additional gene information for TRPC3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRPC3 Gene

Genomics for TRPC3 Gene

GeneHancer (GH) Regulatory Elements for TRPC3 Gene

Promoters and enhancers for TRPC3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04I121951 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE 550.8 +0.1 91 0.8 MXI1 KLF1 SUZ12 ZNF223 ZNF76 ZIC2 ZNF335 ZFHX2 GLIS2 VEZF1 LOC102724158 TRPC3
GH04I121950 Promoter/Enhancer 1.3 Ensembl ENCODE 555.9 +1.1 1129 1 KLF17 ZNF48 RAD21 ZNF335 GLIS2 ZNF143 ZNF654 SP3 REST NR2F2 TRPC3 LOC102724158 GC04P121927
GH04I122731 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.1 -781.3 -781312 2.9 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 YY1 POLR2B ZNF143 FOS CETN4P BBS12 EXOSC9 SPATA5 KIAA1109 BBS7 ENSG00000273007 TRPC3 LOC727709
GH04I122578 Enhancer 0.7 Ensembl ENCODE 11.3 -626.8 -626798 1.1 CTCF POLR2A ZNF10 TRIM22 HMBOX1 RUNX3 IL21-AS1 TRPC3 IL2
GH04I122576 Enhancer 0.5 ENCODE 11.3 -625.1 -625130 0.1 CC2D1A CTCF ZNF654 AFF1 SMC3 REST RAD21 TRPC3 IL21-AS1 IL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TRPC3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TRPC3 gene promoter:

Genomic Locations for TRPC3 Gene

Genomic Locations for TRPC3 Gene
chr4:121,879,027-121,951,891
(GRCh38/hg38)
Size:
72,865 bases
Orientation:
Minus strand
chr4:122,800,182-122,872,909
(GRCh37/hg19)

Genomic View for TRPC3 Gene

Genes around TRPC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRPC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRPC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRPC3 Gene

Proteins for TRPC3 Gene

  • Protein details for TRPC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13507-TRPC3_HUMAN
    Recommended name:
    Short transient receptor potential channel 3
    Protein Accession:
    Q13507
    Secondary Accessions:
    • A7VJS1
    • E9PCJ9
    • O00593
    • Q15660
    • Q52M35
    • Q5G1L5

    Protein attributes for TRPC3 Gene

    Size:
    836 amino acids
    Molecular mass:
    96009 Da
    Quaternary structure:
    • Interacts with TRPC1, ITPR1, ITPR3, MX1 and RNF24. Interacts with JPH2; the interaction is involved in maintaining Ca(2+) homeostasis in skeletal muscle and is mediated by JPH2 Ser-165 phosphorylation.

    Alternative splice isoforms for TRPC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRPC3 Gene

Post-translational modifications for TRPC3 Gene

  • Glycosylation at isoforms=2, 3404

No data available for DME Specific Peptides for TRPC3 Gene

Domains & Families for TRPC3 Gene

Gene Families for TRPC3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Graphical View of Domain Structure for InterPro Entry

Q13507

UniProtKB/Swiss-Prot:

TRPC3_HUMAN :
  • Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC3 sub-subfamily.
Family:
  • Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC3 sub-subfamily.
genes like me logo Genes that share domains with TRPC3: view

Function for TRPC3 Gene

Molecular function for TRPC3 Gene

UniProtKB/Swiss-Prot Function:
Thought to form a receptor-activated non-selective calcium permeant cation channel. 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, and by inositol 1,4,5-triphosphate receptors (ITPR) with bound IP3. May also be activated by internal calcium store depletion.

Phenotypes From GWAS Catalog for TRPC3 Gene

Gene Ontology (GO) - Molecular Function for TRPC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005262 calcium channel activity TAS,IEA --
GO:0005515 protein binding IPI 10611319
GO:0015279 store-operated calcium channel activity TAS 9215637
GO:0070679 inositol 1,4,5 trisphosphate binding IDA 14505576
genes like me logo Genes that share ontologies with TRPC3: view
genes like me logo Genes that share phenotypes with TRPC3: view

Human Phenotype Ontology for TRPC3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TRPC3 Gene

MGI Knock Outs for TRPC3:

Clone Products

  • Addgene plasmids for TRPC3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for TRPC3 Gene

Localization for TRPC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRPC3 Gene

Membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TRPC3 gene
Compartment Confidence
plasma membrane 5
extracellular 2
endoplasmic reticulum 2
cytosol 2
cytoskeleton 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for TRPC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IDA 9368034
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with TRPC3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TRPC3 Gene

Pathways & Interactions for TRPC3 Gene

genes like me logo Genes that share pathways with TRPC3: view

Pathways by source for TRPC3 Gene

1 KEGG pathway for TRPC3 Gene
1 GeneGo (Thomson Reuters) pathway for TRPC3 Gene
1 Qiagen pathway for TRPC3 Gene

SIGNOR curated interactions for TRPC3 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for TRPC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport TAS 9215637
GO:0006828 manganese ion transport IBA --
GO:0007338 single fertilization IBA --
genes like me logo Genes that share ontologies with TRPC3: view

Drugs & Compounds for TRPC3 Gene

(21) Drugs for TRPC3 Gene - From: ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0
2-APB Pharma Antagonist, Pore Blocker IP3 receptor antagonist. Also TRP channel modulator 0
ACAA Pharma Channel blocker 0
BTP2 Pharma Antagonist, Pore Blocker 0
Gd<sup>3+</sup> Pharma Channel blocker 0

(13) Additional Compounds for TRPC3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Diglycerides Group A
  • 1-Myristoyl-2-pentadecanoyl-sn-glycerol
  • DAG(14:0/15:0)
  • DAG(29:0)
  • DG(14:0/15:0)
  • DG(29:0)
Diglycerides Group B
  • 1-Palmitoleoyl-2-arachidonoyl-sn-glycerol
  • DAG(16:1/20:4)
  • DAG(16:1n7/20:4n6)
  • DAG(16:1w7/20:4w6)
  • DAG(36:5)
Diglycerides Group C
  • 1-Pentadecanoyl-3-behenoyl-sn-glycerol
  • 1-Pentadecanoyl-3-docosanoyl-sn-glycerol
  • DAG(15:0/0:0/22:0)
  • DAG(37:0)
  • DG(37:0)
Diglycerides Group D
  • 1,2-Didocosahexaenoyl-rac-glycerol
  • DAG(22:6/22:6)
  • DAG(22:6n3/22:6n3)
  • DAG(22:6w3/22:6w3)
  • DAG(44:12)

(1) ApexBio Compounds for TRPC3 Gene

Compound Action Cas Number
SKF 96365 hydrochloride SOCE inhibitor 130495-35-1
genes like me logo Genes that share compounds with TRPC3: view

Drug Products

Transcripts for TRPC3 Gene

Unigene Clusters for TRPC3 Gene

Transient receptor potential cation channel, subfamily C, member 3:
Representative Sequences:

Clone Products

  • Addgene plasmids for TRPC3

Alternative Splicing Database (ASD) splice patterns (SP) for TRPC3 Gene

No ASD Table

Relevant External Links for TRPC3 Gene

GeneLoc Exon Structure for
TRPC3
ECgene alternative splicing isoforms for
TRPC3

Expression for TRPC3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TRPC3 Gene

mRNA differential expression in normal tissues according to GTEx for TRPC3 Gene

This gene is overexpressed in Pituitary (x8.5), Brain - Putamen (basal ganglia) (x6.0), Brain - Caudate (basal ganglia) (x4.4), and Brain - Cerebellum (x4.1).

Protein differential expression in normal tissues from HIPED for TRPC3 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TRPC3 Gene



Protein tissue co-expression partners for TRPC3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TRPC3 Gene:

TRPC3

SOURCE GeneReport for Unigene cluster for TRPC3 Gene:

Hs.150981

mRNA Expression by UniProt/SwissProt for TRPC3 Gene:

Q13507-TRPC3_HUMAN
Tissue specificity: Expressed predominantly in brain and at much lower levels in ovary, colon, small intestine, lung, prostate, placenta and testis.

Evidence on tissue expression from TISSUES for TRPC3 Gene

  • Nervous system(4.4)
  • Muscle(2.5)
  • Blood(2.2)
  • Heart(2.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TRPC3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • head
Limb:
  • lower limb
General:
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with TRPC3: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for TRPC3 Gene

Orthologs for TRPC3 Gene

This gene was present in the common ancestor of animals.

Orthologs for TRPC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TRPC3 33 34
  • 99.64 (n)
dog
(Canis familiaris)
Mammalia TRPC3 33 34
  • 93.52 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia TRPC3 34
  • 93 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TRPC3 33 34
  • 92.72 (n)
oppossum
(Monodelphis domestica)
Mammalia TRPC3 34
  • 90 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Trpc3 33
  • 87.86 (n)
mouse
(Mus musculus)
Mammalia Trpc3 33 16 34
  • 87.14 (n)
chicken
(Gallus gallus)
Aves TRPC3 33 34
  • 81.84 (n)
lizard
(Anolis carolinensis)
Reptilia TRPC3 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trpc3 33
  • 76.78 (n)
zebrafish
(Danio rerio)
Actinopterygii TRPC3 34
  • 83 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.5785 33
worm
(Caenorhabditis elegans)
Secernentea trp-1 35
  • 36 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 45 (a)
OneToMany
Species where no ortholog for TRPC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TRPC3 Gene

ENSEMBL:
Gene Tree for TRPC3 (if available)
TreeFam:
Gene Tree for TRPC3 (if available)

Paralogs for TRPC3 Gene

Paralogs for TRPC3 Gene

(5) SIMAP similar genes for TRPC3 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for TRPC3 Gene

genes like me logo Genes that share paralogs with TRPC3: view

Variants for TRPC3 Gene

Sequence variations from dbSNP and Humsavar for TRPC3 Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs142339351 pathogenic, Spinocerebellar ataxia 41 121,903,030(-) C/T coding_sequence_variant, missense_variant
VAR_073835 Spinocerebellar ataxia 41 (SCA41) [MIM:616410] p.Arg762His
rs1000034923 -- 121,921,724(-) A/G intron_variant
rs1000084641 -- 121,888,057(-) T/A intron_variant
rs1000108917 -- 121,911,051(-) T/C intron_variant

Structural Variations from Database of Genomic Variants (DGV) for TRPC3 Gene

Variant ID Type Subtype PubMed ID
esv24000 CNV loss 19812545
nsv1014729 CNV loss 25217958
nsv997539 CNV gain 25217958

Variation tolerance for TRPC3 Gene

Residual Variation Intolerance Score: 15.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.89; 35.23% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRPC3 Gene

Human Gene Mutation Database (HGMD)
TRPC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRPC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRPC3 Gene

Disorders for TRPC3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TRPC3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TRPC3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TRPC3_HUMAN
  • Spinocerebellar ataxia 41 (SCA41) [MIM:616410]: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. {ECO:0000269 PubMed:25477146}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TRPC3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TRPC3: view

No data available for Genatlas for TRPC3 Gene

Publications for TRPC3 Gene

  1. The TRPC3 channel has a large internal chamber surrounded by signal sensing antennas. (PMID: 17258231) Mio K … Sato C (Journal of molecular biology 2007) 3 4 22 58
  2. Receptor-activated Ca2+ influx via human Trp3 stably expressed in human embryonic kidney (HEK)293 cells. Evidence for a non-capacitative Ca2+ entry. (PMID: 9417057) Zhu X … Birnbaumer L (The Journal of biological chemistry 1998) 3 4 22 58
  3. trp, a novel mammalian gene family essential for agonist-activated capacitative Ca2+ entry. (PMID: 8646775) Zhu X … Birnbaumer L (Cell 1996) 2 3 4 58
  4. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M … Tokunaga K (Human genetics 2010) 3 44 58
  5. S165F mutation of junctophilin 2 affects Ca2+ signalling in skeletal muscle. (PMID: 20095964) Woo JS … Lee EH (The Biochemical journal 2010) 3 4 58

Products for TRPC3 Gene

  • Addgene plasmids for TRPC3

Sources for TRPC3 Gene

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