Gene Gene information from NCBI Gene database.
Entrez ID 7222
Gene name Transient receptor potential cation channel subfamily C member 3
Gene symbol TRPC3
Synonyms (NCBI Gene)
SCA41TRP3
Chromosome 4
Chromosome location 4q27
Summary 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.
1
SNP ID Visualize variation Clinical significance Consequence
rs142339351 C>T Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
214
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
602345 12335 ENSG00000138741
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
16
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Spinocerebellar ataxia type 41 Pathogenic rs2149125943 RCV001647209
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATAXIA, SPINOCEREBELLAR Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenocarcinoma of lung (disorder) Lung adenocarcinoma BEFREE 21603869
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 36809524 Associate
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 27903970
★☆☆☆☆
Found in Text Mining only
Arteriosclerosis Arteriosclerosis BEFREE 29290366, 29387339
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 16574942, 27317689 Associate
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Asthma Asthma BEFREE 28034747, 29624776
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Ataxia Ataxia Pubtator 21931279 Associate
★☆☆☆☆
Found in Text Mining only
Ataxia, Spinocerebellar Spinocerebellar Ataxia CTD_human_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Atherosclerosis Atherosclerosis BEFREE 29290366, 29387339
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation BEFREE 22992321, 30153442, 31680473
★★☆☆☆
Found in Text Mining + Unknown/Other Associations