Human Gene TRPM3 (ENST00000361823.9) from GENCODE V44
  Description: Homo sapiens transient receptor potential cation channel subfamily M member 3 (TRPM3), transcript variant 7, mRNA. (from RefSeq NM_206948)
RefSeq Summary (NM_206948): The product of this gene belongs to the family of transient receptor potential (TRP) channels. TRP channels are cation-selective channels important for cellular calcium signaling and homeostasis. The protein encoded by this gene mediates calcium entry, and this entry is potentiated by calcium store depletion. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008].
Gencode Transcript: ENST00000361823.9
Gencode Gene: ENSG00000083067.26
Transcript (Including UTRs)
   Position: hg38 chr9:70,783,860-70,869,029 Size: 85,170 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg38 chr9:70,784,101-70,862,910 Size: 78,810 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
RNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther SpeciesGO Annotations
mRNA DescriptionsPathwaysOther NamesGeneReviewsMethods
Data last updated at UCSC: 2023-08-18 00:09:47

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:70,783,860-70,869,029)mRNA (may differ from genome)Protein (230 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGencodeGeneCards
HGNCLynxMalacardsMGIneXtProtOMIM
PubMedReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TRPM3_HUMAN
DESCRIPTION: RecName: Full=Transient receptor potential cation channel subfamily M member 3; AltName: Full=Long transient receptor potential channel 3; Short=LTrpC-3; Short=LTrpC3; AltName: Full=Melastatin-2; Short=MLSN2;
FUNCTION: Calcium channel mediating constitutive calcium ion entry. Its activity is increased by reduction in extracellular osmolarity, by store depletion and muscarinic receptor activation.
SUBCELLULAR LOCATION: Membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Expressed primarily in the kidney and, at lower levels, in brain, testis, ovary, pancreas and spinal cord. Expression in the brain and kidney was determined at protein level. In the kidney, expressed predominantly in the collecting tubular epithelium in the medulla, medullary rays, and periglomerular regions; in the brain, highest levels are found in the cerebellum, choroid plexus, the locus coeruleus, the posterior thalamus and the substantia nigra. Down-regulated in renal tumors compared to normal kidney.
SIMILARITY: Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM3 sub-subfamily.
SEQUENCE CAUTION: Sequence=CAB66480.2; Type=Miscellaneous discrepancy; Note=Cloning artifact in C-terminus; Sequence=CAM13096.1; Type=Erroneous gene model prediction; Sequence=CAM13169.1; Type=Erroneous gene model prediction; Sequence=CAM15782.1; Type=Erroneous gene model prediction; Sequence=CAM17596.1; Type=Erroneous gene model prediction; Sequence=CAM22746.1; Type=Erroneous gene model prediction;

-  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: TRPM3
Diseases sorted by gene-association score: dentin sensitivity (8), chronic fatigue syndrome (6)

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.25 RPKM in Brain - Cerebellum
Total median expression: 43.69 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 -86.60326-0.266 Picture PostScript Text
3' UTR -54.90241-0.228 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
IPR005821 - Ion_trans_dom

Pfam Domains:
PF00520 - Ion transport protein

ModBase Predicted Comparative 3D Structure on Q9HCF6
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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
Genome BrowserGenome BrowserNo orthologNo orthologNo orthologNo ortholog
Gene Details     
Gene Sorter     
MGIRGD    
Protein SequenceProtein Sequence    
AlignmentAlignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005216 ion channel activity
GO:0005227 calcium activated cation channel activity
GO:0005261 cation channel activity
GO:0005262 calcium channel activity

Biological Process:
GO:0006811 ion transport
GO:0006812 cation transport
GO:0006816 calcium ion transport
GO:0016048 detection of temperature stimulus
GO:0034220 ion transmembrane transport
GO:0050951 sensory perception of temperature stimulus
GO:0051262 protein tetramerization
GO:0055085 transmembrane transport
GO:0070588 calcium ion transmembrane transport

Cellular Component:
GO:0005886 plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AL136545 - Homo sapiens mRNA; cDNA DKFZp761A19121 (from clone DKFZp761A19121).
AJ505026 - Homo sapiens mRNA for long transient receptor potential channel 3 (TRPM3 gene).
AJ505025 - Homo sapiens mRNA for long transient receptor potential channel 3 (TRPM3 gene), splice variant longer variant.
AB099661 - Homo sapiens mRNA for hypothetical protein, complete cds, clone: pFCP161615.
AB099662 - Homo sapiens mRNA for hypothetical protein, complete cds, clone: pFCP161643.
AB099663 - Homo sapiens mRNA for hypothetical protein, complete cds, clone: pFCP161638.
AB099664 - Homo sapiens mRNA for hypothetical protein, complete cds, clone: pFCP161626.
AB099665 - Homo sapiens mRNA for hypothetical protein, complete cds, clone: pFCP161632.
AF536748 - Homo sapiens calcium-permeable store-operated channel TRPM3a mRNA, complete cds; alternatively spliced.
AF536749 - Homo sapiens calcium-permeable store-operated channel TRPM3b mRNA, complete cds; alternatively spliced.
AF536750 - Homo sapiens calcium-permeable store-operated channel TRPM3c mRNA, complete cds; alternatively spliced.
AF536751 - Homo sapiens calcium-permeable store-operated channel TRPM3d mRNA, complete cds; alternatively spliced.
AF536752 - Homo sapiens calcium-permeable store-operated channel TRPM3e mRNA, complete cds; alternatively spliced.
AF536753 - Homo sapiens calcium-permeable store-operated channel TRPM3f mRNA, complete cds; alternatively spliced.
BC172350 - Synthetic construct Homo sapiens clone IMAGE:100069044, MGC:199055 transient receptor potential cation channel, subfamily M, member 3 (TRPM3) mRNA, encodes complete protein.
AK308682 - Homo sapiens cDNA, FLJ98723.
BC094699 - Homo sapiens transient receptor potential cation channel, subfamily M, member 3, mRNA (cDNA clone IMAGE:30716887), complete cds.
KF987075 - Homo sapiens transient receptor potential cation channel subfamily M member 3 mRNA, partial cds.
BC022454 - Homo sapiens transient receptor potential cation channel, subfamily M, member 3, mRNA (cDNA clone IMAGE:4817012), partial cds.
AK225732 - Homo sapiens mRNA for Melastatin 2 variant, clone: TST02376.
AF325212 - Homo sapiens melastatin 2 (MLSN2) mRNA, partial cds.
BC142972 - Homo sapiens transient receptor potential cation channel, subfamily M, member 3, mRNA (cDNA clone IMAGE:8860394), complete cds.
BC067733 - Homo sapiens transient receptor potential cation channel, subfamily M, member 3, mRNA (cDNA clone IMAGE:5277420), partial cds.
BC121821 - Homo sapiens transient receptor potential cation channel, subfamily M, member 3, mRNA (cDNA clone IMAGE:40109237), complete cds.
BC134414 - Homo sapiens transient receptor potential cation channel, subfamily M, member 3, mRNA (cDNA clone IMAGE:40109229), complete cds.
AK021788 - Homo sapiens cDNA FLJ11726 fis, clone HEMBA1005367, weakly similar to Homo sapiens melastatin 1 (MLSN1) mRNA.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein Q9HCF6 (Reactome details) participates in the following event(s):

R-HSA-3295579 TRPs transport extracellular Ca2+ to cytosol
R-HSA-3295583 TRP channels
R-HSA-2672351 Stimuli-sensing channels
R-HSA-983712 Ion channel transport
R-HSA-382551 Transport of small molecules

-  Other Names for This Gene
  Alternate Gene Symbols: A2A3F6, A9Z1Y7, ENST00000361823.1, ENST00000361823.2, ENST00000361823.3, ENST00000361823.4, ENST00000361823.5, ENST00000361823.6, ENST00000361823.7, ENST00000361823.8, KIAA1616, LTRPC3, NM_206948, Q5VW02, Q5VW03, Q5VW04, Q5W5T7, Q86SH0, Q86SH6, Q86UL0, Q86WK1, Q86WK2, Q86WK3, Q86WK4, Q86YZ9, Q86Z00, Q86Z01, Q9H0X2, Q9HCF6, TRPM3_HUMAN, uc004aig.1, uc004aig.2, uc004aig.3, uc004aig.4
UCSC ID: ENST00000361823.9
RefSeq Accession: NM_206948
Protein: Q9HCF6 (aka TRPM3_HUMAN or TRL3_HUMAN)
CCDS: CCDS6637.1

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene TRPM3:
trpm3-ndd (TRPM3-Related Neurodevelopmental Disorder)

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