Human Gene TRPC4 (ENST00000379705.8_9) from GENCODE V47lift37
  Description: transient receptor potential cation channel subfamily C member 4, transcript variant 1 (from RefSeq NM_016179.4)
Gencode Transcript: ENST00000379705.8_9
Gencode Gene: ENSG00000133107.15_12
Transcript (Including UTRs)
   Position: hg19 chr13:38,206,200-38,443,909 Size: 237,710 Total Exon Count: 11 Strand: -
Coding Region
   Position: hg19 chr13:38,211,040-38,357,470 Size: 146,431 Coding Exon Count: 10 

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Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr13:38,206,200-38,443,909)mRNA (may differ from genome)Protein (977 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCHuman Cortex Gene ExpressionMalacardsMGIOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TRPC4_HUMAN
DESCRIPTION: RecName: Full=Short transient receptor potential channel 4; Short=TrpC4; AltName: Full=Trp-related protein 4; Short=hTrp-4; Short=hTrp4;
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.
SUBUNIT: 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.
INTERACTION: P20591:MX1; NbExp=2; IntAct=EBI-929504, EBI-929476;
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein. Note=Enhanced insertion into the cell membrane after activation of the EGF receptor.
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.
DOMAIN: The protein 4.1-binding domain (654-685) is required for binding to EPB41L2 and channel activation.
DOMAIN: The calmodulin- and inositol 1,4,5-trisphosphate receptor- binding (CIRB) domain (695-724) is sufficient for the interaction with SESTD1.
DOMAIN: The spectrin-binding domain (730-758) is required for binding to SPTAN1 and SPTBN5.
PTM: Phosphorylation modulates TRPC channel function by regulating the level of TRPC4 at the cell surface and by increasing the association with SLC9A3R1/NHERF.
MISCELLANEOUS: The interaction with spectrin is important in controlling the translocation of TRPC4 channels to the plasma membrane following EGF stimulation.
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.
SIMILARITY: Belongs to the transient receptor (TC 1.A.4) family. STrpC subfamily. TRPC4 sub-subfamily.
SIMILARITY: Contains 4 ANK repeats.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: TRPC4
Diseases sorted by gene-association score: photosensitive epilepsy (6)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 6.69 RPKM in Uterus
Total median expression: 36.13 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -63.90205-0.312 Picture PostScript Text
3' UTR -1044.704840-0.216 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002110 - Ankyrin_rpt
IPR020683 - Ankyrin_rpt-contain_dom
IPR005821 - Ion_trans_dom
IPR004729 - TRP_channel
IPR013555 - TRP_dom
IPR005460 - TRPC4_channel
IPR002153 - TRPC_channel

Pfam Domains:
PF00520 - Ion transport protein
PF08344 - Transient receptor ion channel II

SCOP Domains:
140860 - Pseudo ankyrin repeat-like
56112 - Protein kinase-like (PK-like)
48403 - Ankyrin repeat

ModBase Predicted Comparative 3D Structure on Q9UBN4
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details Gene Details  
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005216 ion channel activity
GO:0005262 calcium channel activity
GO:0005515 protein binding
GO:0008013 beta-catenin binding
GO:0015279 store-operated calcium channel activity
GO:0045296 cadherin binding
GO:0070679 inositol 1,4,5 trisphosphate binding

Biological Process:
GO:0006811 ion transport
GO:0006816 calcium ion transport
GO:0006828 manganese ion transport
GO:0014051 gamma-aminobutyric acid secretion
GO:0048709 oligodendrocyte differentiation
GO:0051480 regulation of cytosolic calcium ion concentration
GO:0055085 transmembrane transport
GO:0070509 calcium ion import
GO:0070588 calcium ion transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0005901 caveola
GO:0009986 cell surface
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016323 basolateral plasma membrane
GO:0030863 cortical cytoskeleton
GO:0032991 macromolecular complex
GO:0034704 calcium channel complex
GO:0045121 membrane raft
GO:0005911 cell-cell junction


-  Descriptions from all associated GenBank mRNAs
  KJ892321 - Synthetic construct Homo sapiens clone ccsbBroadEn_01715 TRPC4 gene, encodes complete protein.
BX648312 - Homo sapiens mRNA; cDNA DKFZp686M09131 (from clone DKFZp686M09131).
AF175406 - Homo sapiens transient receptor potential 4 (TRP4) mRNA, complete cds.
AF421358 - Homo sapiens transient receptor potential channel 4 alpha splice variant (TRPC4) mRNA, complete cds; alternatively spliced.
AF421359 - Homo sapiens transient receptor potential channel 4 beta splice variant (TRPC4) mRNA, complete cds; alternatively spliced.
AF421360 - Homo sapiens transient receptor potential channel 4 epsilon splice variant (TRPC4) mRNA, complete cds; alternatively spliced.
AF421361 - Homo sapiens transient receptor potential channel 4 eta splice variant (TRPC4) mRNA, complete cds; alternatively spliced.
AF421362 - Homo sapiens transient receptor potential channel 4 zeta splice variant (TRPC4) mRNA, complete cds; alternatively spliced.
BC104725 - Homo sapiens transient receptor potential cation channel, subfamily C, member 4, mRNA (cDNA clone MGC:119571 IMAGE:40008478), complete cds.
BC105306 - Homo sapiens transient receptor potential cation channel, subfamily C, member 4, mRNA (cDNA clone IMAGE:40008479), complete cds.
BC105641 - Homo sapiens transient receptor potential cation channel, subfamily C, member 4, mRNA (cDNA clone MGC:119573 IMAGE:40008481), complete cds.
BC105917 - Homo sapiens transient receptor potential cation channel, subfamily C, member 4, mRNA (cDNA clone MGC:119570 IMAGE:40008477), complete cds.
AF063822 - Homo sapiens trp-related protein 4 mRNA, complete cds.
AF063823 - Homo sapiens trp-related protein 4 truncated variant beta mRNA, complete cds.
AF063824 - Homo sapiens trp-related protein 4 truncated variant delta mRNA, complete cds.
AF063825 - Homo sapiens trp-related protein 4 truncated variant gamma mRNA, complete cds.
AK312524 - Homo sapiens cDNA, FLJ92890, highly similar to Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), mRNA.
AB384899 - Synthetic construct DNA, clone: pF1KB4108, Homo sapiens TRPC4 gene for short transient receptor potential channel 4, complete cds, without stop codon, in Flexi system.
JD323749 - Sequence 304773 from Patent EP1572962.
JD359397 - Sequence 340421 from Patent EP1572962.
U40983 - Human trp-related protein 4 mRNA, partial cds.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_raccPathway - Ion Channels and Their Functional Role in Vascular Endothelium

Reactome (by CSHL, EBI, and GO)

Protein Q9UBN4 (Reactome details) participates in the following event(s):

R-HSA-3295579 TRPs transport extracellular Ca2+ to cytosol
R-HSA-3295583 TRP channels
R-HSA-418890 Role of second messengers in netrin-1 signaling
R-HSA-2672351 Stimuli-sensing channels
R-HSA-373752 Netrin-1 signaling
R-HSA-983712 Ion channel transport
R-HSA-422475 Axon guidance
R-HSA-382551 Transport of small molecules
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: B1ALE0, B1ALE1, B1ALE2, ENST00000379705.1, ENST00000379705.2, ENST00000379705.3, ENST00000379705.4, ENST00000379705.5, ENST00000379705.6, ENST00000379705.7, NM_016179, Q15721, Q3SWS6, Q96P03, Q96P04, Q96P05, Q9UBN4, Q9UIB0, Q9UIB1, Q9UIB2, TRPC4_HUMAN, uc318pdh.1, uc318pdh.2
UCSC ID: ENST00000379705.8_9
RefSeq Accession: NM_016179.4
Protein: Q9UBN4 (aka TRPC4_HUMAN or TRP4_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.