Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7222
Gene name Gene Name - the full gene name approved by the HGNC.
Transient receptor potential cation channel subfamily C member 3
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TRPC3
Synonyms (NCBI Gene) Gene synonyms aliases
SCA41, TRP3
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4q27
Summary Summary of gene provided in NCBI Entrez 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 se
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs142339351 C>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT020161 hsa-miR-130b-3p Sequencing 20371350
MIRT024166 hsa-miR-221-3p Sequencing 20371350
MIRT026076 hsa-miR-196a-5p Sequencing 20371350
MIRT031132 hsa-miR-19b-3p Sequencing 20371350
MIRT611905 hsa-miR-548ac HITS-CLIP 23824327
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0005216 Function Monoatomic ion channel activity IEA
GO:0005227 Function Calcium-activated cation channel activity IEA
GO:0005262 Function Calcium channel activity IDA 9417057, 9930701, 29726814, 30139744, 35051376
GO:0005262 Function Calcium channel activity IEA
GO:0005262 Function Calcium channel activity TAS 9930701
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
602345 12335 ENSG00000138741
Protein
UniProt ID Q13507
Protein name Short transient receptor potential channel 3 (TrpC3) (Transient receptor protein 3) (TRP-3) (hTrp-3) (hTrp3)
Protein function Forms a receptor-activated non-selective calcium permeant cation channel (PubMed:29726814, PubMed:30139744, PubMed:35051376, PubMed:9417057, PubMed:9930701, PubMed:10611319). {ECO:0000269|PubMed:10611319, ECO:0000269|PubMed:29726814, ECO:0000269
PDB 5ZBG , 6CUD , 6D7L , 6DJS , 7DXB , 7DXC , 7DXD , 7DXE
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08344 TRP_2 182 244 Transient receptor ion channel II Family
PF00520 Ion_trans 372 670 Ion transport protein Family
Tissue specificity TISSUE SPECIFICITY: Expressed predominantly in brain and at much lower levels in ovary, colon, small intestine, lung, prostate, placenta and testis.
Sequence
MREKGRRQAVRGPAFMFNDRGTSLTAEEERFLDAAEYGNIPVVRKMLEESKTLNVNCVDY
MGQNALQLAVGNEHLEVTELLLKKENLARIGDALLLAISKGYVRIVEAILNHPGFAASKR
LTLSPCEQELQDDDFYAYDEDGTRFSPDITPIILAAHCQKYEVVHMLLMKGARIERPHDY
FCKCGDCMEKQRHDSFSHSRSRINAYKGLASPAYLSLSSEDPVLTALELSNELAKLANIE
KEFK
NDYRKLSMQCKDFVVGVLDLCRDSEEVEAILNGDLESAEPLEVHRHKASLSRVKLA
IKYEVKKFVAHPNCQQQLLTIWYENLSGLREQTIAIKCLVVLVVALGLPFLAIGYWIAPC
SRLGKILRSPFMKFVAHAASFIIFLGLLVFNASDRFEGITTLPNITVTDYPKQIFRVKTT
QFTWTEMLIMVWVLGMMWSECKELWLEGPREYILQLWNVLDFGMLSIFIAAFTARFLAFL
QATKAQQYVDSYVQESDLSEVTLPPEIQYFTYARDKWLPSDPQIISEGLYAIAVVLSFSR
IAYILPANESFGPLQISLGRTVKDIFKFMVLFIMVFFAFMIGMFILYSYYLGAKVNAAFT
TVEESFKTLFWSIFGLSEVTSVVLKYDHKFIENIGYVLYGIYNVTMVVVLLNMLIAMINS
SYQEIEDDSD
VEWKFARSKLWLSYFDDGKTLPPPFSLVPSPKSFVYFIMRIVNFPKCRRR
RLQKDIEMGMGNSKSRLNLFTQSNSRVFESHSFNSILNQPTRYQQIMKRLIKRYVLKAQV
DKENDEVNEGELKEIKQDISSLRYELLEDKSQATEELAILIHKLSEKLNPSMLRCE
Sequence length 836
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Axon guidance
Spinocerebellar ataxia
Pathways of neurodegeneration - multiple diseases
  Effects of PIP2 hydrolysis
Elevation of cytosolic Ca2+ levels
TRP channels
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Asthma Asthma, Atopic asthma N/A N/A GWAS
Spinocerebellar Ataxia spinocerebellar ataxia type 41 N/A N/A ClinVar, GenCC
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 36809524
Asthma Associate 16574942, 27317689
Ataxia Associate 21931279
Atrial Fibrillation Associate 28839241
Breast Neoplasms Associate 22692672
Carcinogenesis Associate 35870973
Carcinoma Non Small Cell Lung Associate 23840757
Carcinoma Ovarian Epithelial Associate 32087757
Cardiomegaly Associate 21931279
Cerebellar Ataxia Associate 21931279