This gene encodes a member of the canonical subfamily of transient receptor potential cation channels. The encoded protein forms a non-selective calcium-permeable cation channel that is activated by Gq-coupled receptors and tyrosine kinases, and plays a role in multiple processes including endothelial permeability, vasodilation, neurotransmitter release and cell proliferation. ... See more...

Aliases for TRPC4 Gene

Aliases for TRPC4 Gene

  • Transient Receptor Potential Cation Channel Subfamily C Member 4 2 3 5
  • Short Transient Receptor Potential Channel 4 3 4
  • Trp-Related Protein 4 3 4
  • HTRP4 2 3
  • TRP4 2 3
  • Transient Receptor Potential Cation Channel, Subfamily C, Member 4 2
  • HTRP-4 3
  • HTrp-4 4
  • TRPC4 5
  • TrpC4 4
  • HTrp4 4

External Ids for TRPC4 Gene

Previous GeneCards Identifiers for TRPC4 Gene

  • GC13M036197
  • GC13M032197
  • GC13M037147
  • GC13M036008
  • GC13M037108
  • GC13M038210
  • GC13M019010

Summaries for TRPC4 Gene

Entrez Gene Summary for TRPC4 Gene

  • This gene encodes a member of the canonical subfamily of transient receptor potential cation channels. The encoded protein forms a non-selective calcium-permeable cation channel that is activated by Gq-coupled receptors and tyrosine kinases, and plays a role in multiple processes including endothelial permeability, vasodilation, neurotransmitter release and cell proliferation. Single nucleotide polymorphisms in this gene may be associated with generalized epilepsy with photosensitivity. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]

GeneCards Summary for TRPC4 Gene

TRPC4 (Transient Receptor Potential Cation Channel Subfamily C Member 4) is a Protein Coding gene. Diseases associated with TRPC4 include Photosensitive Epilepsy and Darier-White Disease. Among its related pathways are Netrin-1 signaling and Axon guidance. Gene Ontology (GO) annotations related to this gene include ion channel activity and calcium channel activity. An important paralog of this gene is TRPC5.

UniProtKB/Swiss-Prot Summary for TRPC4 Gene

  • Forms a receptor-activated non-selective calcium permeant cation channel. Acts as a cell-cell contact-dependent endothelial calcium entry channel. Probably operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Mediates cation entry, with an enhanced permeability to barium over calcium. May also be activated by intracellular calcium store depletion.

Tocris Summary for TRPC4 Gene

  • The classical or canonical transient receptor potential (TRPC) channels are the subfamily most closely related to the founding member of the TRP family, the Drosophila TRP channel. TRPC channels have seven TRPC genes that encode the channel protein (TRPC1-7).

Gene Wiki entry for TRPC4 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRPC4 Gene

Genomics for TRPC4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TRPC4 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
GH13J037868 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +1.1 1101 5.4 CTCF ATF7 TEAD4 FOXA1 ZIC2 ZSCAN4 PATZ1 REST ZNF600 ZNF341 ENSG00000287477 TRPC4 RF00001-097 POSTN
GH13J037594 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 4.9 +272.7 272746 6.1 MNT JUND CEBPB POLR2A SMARCA4 NANOG POU5F1 POSTN HSALNG0096438 TRPC4 MN298678-021 CSNK1A1L
GH13J037914 Enhancer 0.6 ENCODE 11.5 -45.2 -45154 1.6 KDM1A CEBPB YY1 POLR2A TAF1 ZFP36 TBP SP1 JUND ZNF680 LINC02334 TRPC4 LINC00571 ENSG00000287477 UFM1
GH13J037616 Enhancer 0.9 FANTOM5 Ensembl ENCODE 5 +252.0 251986 3.6 ZIC2 SP1 JUND CEBPB ESR1 OSR2 JUN EP300 TCF7L2 FEZF1 TRPC4 POSTN HSALNG0096438 hsa-miR-5095-117 MN298678-021
GH13J037601 Enhancer 0.7 Ensembl ENCODE dbSUPER 5.3 +267.7 267726 1.5 CTCF RAD21 ATF2 POSTN TRPC4 HSALNG0096438 hsa-miR-5095-117 MN298678-021
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TRPC4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TRPC4

Top Transcription factor binding sites by QIAGEN in the TRPC4 gene promoter:
  • CREB
  • deltaCREB
  • Egr-1
  • Egr-3
  • FOXD1
  • HOXA9
  • HOXA9B
  • HSF1 (long)
  • Meis-1

Genomic Locations for TRPC4 Gene

Genomic Locations for TRPC4 Gene
chr13:37,632,063-37,869,802
(GRCh38/hg38)
Size:
237,740 bases
Orientation:
Minus strand
chr13:38,210,773-38,444,562
(GRCh37/hg19)
Size:
233,790 bases
Orientation:
Minus strand

Genomic View for TRPC4 Gene

Genes around TRPC4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRPC4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRPC4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRPC4 Gene

Proteins for TRPC4 Gene

  • Protein details for TRPC4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UBN4-TRPC4_HUMAN
    Recommended name:
    Short transient receptor potential channel 4
    Protein Accession:
    Q9UBN4
    Secondary Accessions:
    • B1ALE0
    • B1ALE1
    • B1ALE2
    • Q15721
    • Q3SWS6
    • Q96P03
    • Q96P04
    • Q96P05
    • Q9UIB0
    • Q9UIB1
    • Q9UIB2

    Protein attributes for TRPC4 Gene

    Size:
    977 amino acids
    Molecular mass:
    112101 Da
    Quaternary structure:
    • Interacts with TRPC4AP (By similarity). Homotetramer and heterotetramer with TRPC1 and/or TRPC5. Isoform alpha but not isoform beta associates with inositol 1,4,5-trisphosphate receptor (ITPR). Interacts with (via PDZ-binding domain) with SLC9A3R1/NHERF. Interacts with MX1 and RNF24. Interacts (via CIRB domain) with SESTD1 (via spectrin 1 repeat). Interacts with CDH5 and CTNNB1. Interacts with SPTAN1 (via C-terminal spectrin repeats) and SPTBN5 (via C-terminus). Interacts (via protein 4.1-binding domain) with EPB41L2.
    Miscellaneous:
    • The interaction with spectrin is important in controlling the translocation of TRPC4 channels to the plasma membrane following EGF stimulation.
    • The cell membrane presentation, the calcium entry function and the interaction with junctional proteins (CTNNB1 and CDH5) are controlled by endothelial cell-cell contacts.

    Alternative splice isoforms for TRPC4 Gene

neXtProt entry for TRPC4 Gene

Post-translational modifications for TRPC4 Gene

  • Phosphorylation modulates TRPC channel function by regulating the level of TRPC4 at the cell surface and by increasing the association with SLC9A3R1/NHERF.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for TRPC4 Gene

Domains & Families for TRPC4 Gene

Gene Families for TRPC4 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Protein Domains for TRPC4 Gene

InterPro:
Blocks:
  • Ankyrin repeat signature
  • Transient receptor potential family signature
  • Transient receptor ion channel II
  • Transient receptor potential channel 4 signature
ProtoNet:

Suggested Antigen Peptide Sequences for TRPC4 Gene

GenScript: Design optimal peptide antigens:
  • Transient receptor potential 4 (Q2M2U7_HUMAN)
  • TRPC4 protein (Q3KR50_HUMAN)
  • Trp-related protein 4 (TRPC4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UBN4

UniProtKB/Swiss-Prot:

TRPC4_HUMAN :
  • The protein 4.1-binding domain (654-685) is required for binding to EPB41L2 and channel activation.
  • Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC4 sub-subfamily.
Domain:
  • The protein 4.1-binding domain (654-685) is required for binding to EPB41L2 and channel activation.
  • The calmodulin- and inositol 1,4,5-trisphosphate receptor-binding (CIRB) domain (695-724) is sufficient for the interaction with SESTD1.
  • The spectrin-binding domain (730-758) is required for binding to SPTAN1 and SPTBN5.
Family:
  • Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC4 sub-subfamily.
genes like me logo Genes that share domains with TRPC4: view

Function for TRPC4 Gene

Molecular function for TRPC4 Gene

UniProtKB/Swiss-Prot Function:
Forms a receptor-activated non-selective calcium permeant cation channel. Acts as a cell-cell contact-dependent endothelial calcium entry channel. Probably operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Mediates cation entry, with an enhanced permeability to barium over calcium. May also be activated by intracellular calcium store depletion.

Phenotypes From GWAS Catalog for TRPC4 Gene

Gene Ontology (GO) - Molecular Function for TRPC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005262 calcium channel activity IEA --
GO:0005515 protein binding IEA,IPI 15757897
GO:0008013 beta-catenin binding IPI 19996314
GO:0015279 store-operated calcium channel activity IMP 16254212
genes like me logo Genes that share ontologies with TRPC4: view
genes like me logo Genes that share phenotypes with TRPC4: view

Animal Models for TRPC4 Gene

MGI Knock Outs for TRPC4:

Animal Model Products

  • Taconic Biosciences Mouse Models for TRPC4

CRISPR Products

miRNA for TRPC4 Gene

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRPC4

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TRPC4 Gene

Localization for TRPC4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRPC4 Gene

Membrane. Multi-pass membrane protein. Cell membrane. Multi-pass membrane protein. Note=Enhanced insertion into the cell membrane after activation of the EGF receptor.

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 TRPC4 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 5
extracellular 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for TRPC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0005901 caveola IEA --
GO:0005911 colocalizes_with cell-cell junction IDA 19996314
genes like me logo Genes that share ontologies with TRPC4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TRPC4 Gene

Pathways & Interactions for TRPC4 Gene

genes like me logo Genes that share pathways with TRPC4: view

Pathways by source for TRPC4 Gene

1 Qiagen pathway for TRPC4 Gene
  • Intracellular Calcium Signaling

Gene Ontology (GO) - Biological Process for TRPC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006811 ion transport IEA --
GO:0006816 calcium ion transport TAS 8646775
GO:0006828 manganese ion transport IBA 21873635
GO:0014051 gamma-aminobutyric acid secretion IEA --
GO:0048709 oligodendrocyte differentiation IEA --
genes like me logo Genes that share ontologies with TRPC4: view

No data available for SIGNOR curated interactions for TRPC4 Gene

Drugs & Compounds for TRPC4 Gene

(17) Drugs for TRPC4 Gene - From: ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Niflumic acid Experimental Pharma Channel blocker, Activator, Positive Ca2+-activated Cl- channel blocker, Cyclooxygenase-2 (COX-2) inhibitor; GPR35 agonist 0
SKF 96365 hydrochloride Pharma SOCE inhibitor, TRPC channel blocker; also inhibits store-operated Ca2+ entry 0
2-APB Pharma Channel blocker, Pore Blocker, Antagonist, Gating inhibitor, Activator, Agonist, Potentiation IP3 receptor antagonist. Also TRP channel modulator 0
La<sup>3+</sup> Pharma Channel blocker, Pore Blocker, Antagonist, Activator 0
ML204 Pharma Channel blocker 0

(3) Additional Compounds for TRPC4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(3) Tocris Compounds for TRPC4 Gene

Compound Action Cas Number
Clemizole hydrochloride TRPC5 blocker; also H1 antagonist 1163-36-6
Pyr3 Selective TRPC3 blocker 1160514-60-2
SKF 96365 hydrochloride TRPC channel blocker; also inhibits store-operated Ca2+ entry 130495-35-1

(4) ApexBio Compounds for TRPC4 Gene

Compound Action Cas Number
HC-030031 TRPA1 channel blocker,potent and selective 349085-38-7
Optovin 348575-88-2
SKF 96365 hydrochloride SOCE inhibitor 130495-35-1
WS 3 39711-79-0
genes like me logo Genes that share compounds with TRPC4: view

Drug Products

Transcripts for TRPC4 Gene

mRNA/cDNA for TRPC4 Gene

9 REFSEQ mRNAs :
21 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRPC4

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TRPC4 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b
SP1: -
SP2: - - -
SP3: -
SP4: - -
SP5: - -
SP6:
SP7: - -
SP8: - -

Relevant External Links for TRPC4 Gene

GeneLoc Exon Structure for
TRPC4

Expression for TRPC4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TRPC4 Gene

mRNA differential expression in normal tissues according to GTEx for TRPC4 Gene

This gene is overexpressed in Uterus (x7.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TRPC4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TRPC4

SOURCE GeneReport for Unigene cluster for TRPC4 Gene:

Hs.262960

mRNA Expression by UniProt/SwissProt for TRPC4 Gene:

Q9UBN4-TRPC4_HUMAN
Tissue specificity: Strongly expressed in placenta. Expressed at lower levels in heart, pancreas, kidney and brain. Expressed in endothelial cells. Isoform alpha was found to be the predominant isoform. Isoform beta was not found in pancreas and brain.

Evidence on tissue expression from TISSUES for TRPC4 Gene

  • Kidney(4.4)
  • Nervous system(2.9)
  • Heart(2.3)
  • Muscle(2.3)
genes like me logo Genes that share expression patterns with TRPC4: view

No data available for Protein differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for TRPC4 Gene

Orthologs for TRPC4 Gene

This gene was present in the common ancestor of animals.

Orthologs for TRPC4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia TRPC4 30 31
  • 99.93 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TRPC4 30 31
  • 92.36 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia TRPC4 31
  • 91 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia TRPC4 30 31
  • 90.24 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Trpc4 30 17 31
  • 88.25 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Trpc4 30
  • 88.01 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia TRPC4 31
  • 88 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TRPC4 30 31
  • 79.12 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TRPC4 31
  • 83 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia trpc4 30
  • 74.99 (n)
Zebrafish
(Danio rerio)
Actinopterygii trpc4b 31
  • 76 (a)
OneToMany
TRPC4 (2 of 2) 31
  • 71 (a)
OneToMany
trpc4 30
  • 70.8 (n)
Dr.24084 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008435 30
  • 56.49 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta trpgamma 30 31 32
  • 55.71 (n)
ManyToMany
trpl 31 32
  • 33 (a)
ManyToMany
trp 31 32
  • 30 (a)
ManyToMany
Worm
(Caenorhabditis elegans)
Secernentea trp-2 30 31
  • 52.37 (n)
OneToMany
trp-1 32
  • 41 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 25 (a)
ManyToMany
Species where no ortholog for TRPC4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 TRPC4 Gene

ENSEMBL:
Gene Tree for TRPC4 (if available)
TreeFam:
Gene Tree for TRPC4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TRPC4: view image

Paralogs for TRPC4 Gene

Paralogs for TRPC4 Gene

(6) SIMAP similar genes for TRPC4 Gene using alignment to 4 proteins:

  • TRPC4_HUMAN
  • Q2M2U7_HUMAN
  • Q3KR50_HUMAN
  • Q3MHB9_HUMAN

Pseudogenes.org Pseudogenes for TRPC4 Gene

genes like me logo Genes that share paralogs with TRPC4: view

Variants for TRPC4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TRPC4 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
778695 Benign: not provided 37,636,909(-) T/C SYNONYMOUS_VARIANT
787106 Benign: not provided 37,692,234(-) A/G SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
rs193920981 Uncertain Significance: Malignant tumor of prostate 37,746,311(-) G/A MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT,INTRON_VARIANT
VAR_036452 A breast cancer sample p.Glu138Lys

Additional dbSNP identifiers (rs#s) for TRPC4 Gene

Structural Variations from Database of Genomic Variants (DGV) for TRPC4 Gene

Variant ID Type Subtype PubMed ID
dgv983e59 CNV insertion 20981092
esv1262429 CNV insertion 17803354
esv2661529 CNV deletion 23128226
esv2668113 CNV deletion 23128226
esv3302581 CNV tandem duplication 20981092
esv3304452 CNV mobile element insertion 20981092
esv33246 CNV gain 17666407
esv34109 CNV loss 18971310
esv3419690 CNV insertion 20981092
esv3435362 CNV insertion 20981092
esv3631804 CNV loss 21293372
esv3631805 CNV loss 21293372
esv3631806 CNV loss 21293372
esv3631808 CNV loss 21293372
esv3631809 CNV loss 21293372
esv3631810 CNV loss 21293372
nsv1113558 CNV deletion 24896259
nsv1142828 CNV tandem duplication 24896259
nsv471935 CNV novel sequence insertion 20440878
nsv64068 CNV insertion 16902084
nsv64072 CNV insertion 16902084
nsv826617 CNV loss 20364138
nsv983740 CNV duplication 23825009

Variation tolerance for TRPC4 Gene

Residual Variation Intolerance Score: 6.96% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.08; 22.08% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TRPC4 Gene

Human Gene Mutation Database (HGMD)
TRPC4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRPC4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRPC4 Gene

Disorders for TRPC4 Gene

MalaCards: The human disease database

(6) MalaCards diseases for TRPC4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
photosensitive epilepsy
  • photoparoxysmal response 1
darier-white disease
  • dar
eosinophilia-myalgia syndrome
  • eosinophilia myalgia syndrome
epilepsy
  • epilepsy syndrome
myopathy, tubular aggregate, 1
  • tam
- elite association - COSMIC cancer census association via MalaCards
Search TRPC4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for TRPC4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with TRPC4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for TRPC4 Gene

Publications for TRPC4 Gene

  1. The phospholipid-binding protein SESTD1 is a novel regulator of the transient receptor potential channels TRPC4 and TRPC5. (PMID: 20164195) Miehe S … Strübing C (The Journal of biological chemistry 2010) 3 4 23
  2. Cell-cell contact formation governs Ca2+ signaling by TRPC4 in the vascular endothelium: evidence for a regulatory TRPC4-beta-catenin interaction. (PMID: 19996314) Graziani A … Groschner K (The Journal of biological chemistry 2010) 3 4 23
  3. Activation of the endothelial store-operated ISOC Ca2+ channel requires interaction of protein 4.1 with TRPC4. (PMID: 16254212) Cioffi DL … Stevens T (Circulation research 2005) 3 4 23
  4. The PDZ-interacting domain of TRPC4 controls its localization and surface expression in HEK293 cells. (PMID: 12154080) Mery L … Hoth M (Journal of cell science 2002) 3 4 23
  5. Functional differences between TRPC4 splice variants. (PMID: 11713258) Schaefer M … Schultz G (The Journal of biological chemistry 2002) 3 4 23

Products for TRPC4 Gene

Sources for TRPC4 Gene