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Aliases for TRPC4 Gene

Aliases for TRPC4 Gene

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

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. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. 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 for TRPC4 Gene

  • Form 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 PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRPC4 Gene

Genomics for TRPC4 Gene

Regulatory Elements for TRPC4 Gene

Enhancers for TRPC4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around TRPC4 on UCSC Golden Path with GeneCards custom track

Promoters for TRPC4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

Genomic Location for TRPC4 Gene

Chromosome:
13
Start:
37,633,872 bp from pter
End:
37,870,425 bp from pter
Size:
236,554 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 cell membrane presentation, the calcium entry function and the interaction with junctional proteins (CTNNB1 and CDH5) are controlled by endothelial cell-cell contacts.
    • The interaction with spectrin is important in controlling the translocation of TRPC4 channels to the plasma membrane following EGF stimulation.

    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

Suggested Antigen Peptide Sequences for TRPC4 Gene

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.
  • Contains 4 ANK repeats.
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.
Similarity:
  • Contains 4 ANK repeats.
genes like me logo Genes that share domains with TRPC4: view

Function for TRPC4 Gene

Molecular function for TRPC4 Gene

UniProtKB/Swiss-Prot Function:
Form 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.

Gene Ontology (GO) - Molecular Function for TRPC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005262 calcium channel activity TAS --
GO:0005515 protein binding IPI 15757897
GO:0008013 beta-catenin binding IPI 19996314
GO:0015279 store-operated calcium channel activity IMP 16254212
GO:0045296 cadherin binding IPI 19996314
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

Clone Products

Flow Cytometry 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
Jensen Localization Image for TRPC4 Gene COMPARTMENTS Subcellular localization image for TRPC4 gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
cytosol 4
endoplasmic reticulum 2
extracellular 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TRPC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0005901 caveola IEA --
GO:0005911 colocalizes_with cell-cell junction IDA 19996314
GO:0009986 cell surface IDA 19996314
genes like me logo Genes that share ontologies with TRPC4: view

Pathways & Interactions for TRPC4 Gene

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

Pathways by source for TRPC4 Gene

Gene Ontology (GO) - Biological Process for TRPC4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006816 calcium ion transport TAS 8646775
GO:0006828 manganese ion transport IBA --
GO:0014051 gamma-aminobutyric acid secretion IEA --
GO:0048709 oligodendrocyte differentiation IEA --
GO:0051480 regulation of cytosolic calcium ion concentration IBA --
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

(19) 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 Approved Pharma Channel blocker Ca2+-activated Cl- channel blocker 0
2-APB Pharma Antagonist, Pore Blocker IP3 receptor antagonist. Also TRP channel modulator 0
La<sup>3+</sup> Pharma Pore Blocker 0
ML204 Pharma Channel blocker 0
SKF96365 Pharma Pore Blocker 0

(4) Additional Compounds for TRPC4 Gene - From: Novoseek and Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
M 084 hydrochloride

(5) Tocris Compounds for TRPC4 Gene

Compound Action Cas Number
Clemizole hydrochloride TRPC5 blocker; also H1 antagonist 1163-36-6
GsMTx4 TRPC1 and TRPC6 blocker; inhibits mechanosensitive ion channels
M 084 hydrochloride TRPC4/5 channel blocker; antidepressant and anxiolytic
ML 204 Selective TRPC4 blocker 5465-86-1
Pyr3 Selective TRPC3 blocker 1160514-60-2

(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

Transcripts for TRPC4 Gene

Unigene Clusters for TRPC4 Gene

Transient receptor potential cation channel, subfamily C, member 4:
Representative Sequences:

CRISPR Products

Clone Products

Flow Cytometry 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
ECgene alternative splicing isoforms for
TRPC4

Expression for TRPC4 Gene

mRNA expression in normal human tissues 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



NURSA nuclear receptor signaling pathways regulating expression of TRPC4 Gene:

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.
genes like me logo Genes that share expression patterns with TRPC4: view

Primer Products

No data available for Protein differential expression in normal tissues and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia TRPC4 34
  • 90.24 (n)
  • 97.13 (a)
TRPC4 35
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TRPC4 34
  • 92.36 (n)
  • 98.16 (a)
TRPC4 35
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Trpc4 34
  • 88.25 (n)
  • 97.33 (a)
Trpc4 16
Trpc4 35
  • 97 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia TRPC4 34
  • 99.93 (n)
  • 100 (a)
TRPC4 35
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Trpc4 34
  • 88.01 (n)
  • 97.23 (a)
oppossum
(Monodelphis domestica)
Mammalia TRPC4 35
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TRPC4 35
  • 88 (a)
OneToOne
chicken
(Gallus gallus)
Aves TRPC4 34
  • 79.12 (n)
  • 85.32 (a)
TRPC4 35
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TRPC4 35
  • 83 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trpc4 34
  • 74.99 (n)
  • 84.31 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.24084 34
trpc4 34
  • 70.8 (n)
  • 80.28 (a)
TRPC4 (2 of 2) 35
  • 71 (a)
OneToMany
trpc4b 35
  • 76 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta trp 36
  • 44 (a)
trpgamma 36
  • 52 (a)
trpl 36
  • 45 (a)
trpgamma 34
  • 55.71 (n)
  • 55.66 (a)
trp 35
  • 30 (a)
ManyToMany
trpgamma 35
  • 39 (a)
ManyToMany
trpl 35
  • 33 (a)
ManyToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008435 34
  • 56.49 (n)
  • 56.13 (a)
worm
(Caenorhabditis elegans)
Secernentea trp-1 36
  • 41 (a)
trp-2 34
  • 52.37 (n)
  • 48.24 (a)
trp-2 35
  • 42 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 25 (a)
ManyToMany
Species where no ortholog for TRPC4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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 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)

Paralogs for TRPC4 Gene

Paralogs for TRPC4 Gene

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

Pseudogenes.org Pseudogenes for TRPC4 Gene

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

Variants for TRPC4 Gene

Sequence variations from dbSNP and Humsavar for TRPC4 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
VAR_036452 A breast cancer sample
rs476995 -- 37,849,357(+) AAGGA(A/T)GACTG intron-variant
rs645363 -- 37,798,439(+) TTCAT(C/T)AAAAT intron-variant
rs648524 -- 37,814,628(+) tttca(C/T)ttgta intron-variant
rs651721 -- 37,815,298(-) gagac(A/G)tttag intron-variant

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)

Relevant External Links for TRPC4 Gene

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

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

Disorders for TRPC4 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TRPC4 Gene - From: DISEASES

Disorder Aliases PubMed IDs
photosensitive epilepsy
  • photogenic epilepsy
- elite association - COSMIC cancer census association via MalaCards
Search TRPC4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for TRPC4

Genetic Association Database (GAD)
TRPC4
Human Genome Epidemiology (HuGE) Navigator
TRPC4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TRPC4
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. 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. (J. Biol. Chem. 2010) 3 4 22 65
  2. The phospholipid-binding protein SESTD1 is a novel regulator of the transient receptor potential channels TRPC4 and TRPC5. (PMID: 20164195) Miehe S. … Strubing C. (J. Biol. Chem. 2010) 3 4 22 65
  3. Activation of the endothelial store-operated ISOC Ca2+ channel requires interaction of protein 4.1 with TRPC4. (PMID: 16254212) Cioffi D.L. … Stevens T. (Circ. Res. 2005) 3 4 22 65
  4. Functional differences between TRPC4 splice variants. (PMID: 11713258) Schaefer M. … Schultz G. (J. Biol. Chem. 2002) 3 4 22 65
  5. The PDZ-interacting domain of TRPC4 controls its localization and surface expression in HEK293 cells. (PMID: 12154080) Mery L. … Hoth M. (J. Cell Sci. 2002) 3 4 22 65

Products for TRPC4 Gene

Sources for TRPC4 Gene

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