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Aliases for TRPM2 Gene

Aliases for TRPM2 Gene

  • Transient Receptor Potential Cation Channel Subfamily M Member 2 2 3 5
  • Estrogen-Responsive Element-Associated Gene 1 Protein 3 4
  • Long Transient Receptor Potential Channel 2 3 4
  • Transient Receptor Potential Melastatin 2 3 4
  • Transient Receptor Potential Channel 7 3 4
  • LTrpC-2 3 4
  • LTRPC2 3 4
  • TrpC7 3 4
  • EREG1 3 4
  • KNP3 3 4
  • Transient Receptor Potential Cation Channel, Subfamily M, Member 2 2
  • NUDT9L1 3
  • NUDT9H 3

External Ids for TRPM2 Gene

Previous HGNC Symbols for TRPM2 Gene

  • TRPC7

Previous GeneCards Identifiers for TRPM2 Gene

  • GC21P042282
  • GC21P044629
  • GC21P044597
  • GC21P045770
  • GC21P031143

Summaries for TRPM2 Gene

Entrez Gene Summary for TRPM2 Gene

  • The protein encoded by this gene forms a tetrameric cation channel that is permeable to calcium, sodium, and potassium and is regulated by free intracellular ADP-ribose. The encoded protein is activated by oxidative stress and confers susceptibility to cell death. Alternative splicing results in multiple transcript variants encoding distinct protein isoforms. Additional transcript variants of this gene have been described, but their full-length nature is not known. [provided by RefSeq, Feb 2016]

GeneCards Summary for TRPM2 Gene

TRPM2 (Transient Receptor Potential Cation Channel Subfamily M Member 2) is a Protein Coding gene. Among its related pathways are Ion channel transport and Immune System. GO annotations related to this gene include hydrolase activity and calcium channel activity. An important paralog of this gene is TRPM8.

UniProtKB/Swiss-Prot for TRPM2 Gene

  • Isoform 1: Nonselective, voltage-independent cation channel that mediates Na(+) and Ca(2+) influx, leading to increased cytoplasmic Ca(2+) levels (PubMed:11960981, PubMed:12594222, PubMed:11385575, PubMed:11509734, PubMed:11804595, PubMed:15561722, PubMed:16601673, PubMed:19171771, PubMed:20660597, PubMed:27383051, PubMed:27068538). Extracellular calcium passes through the channel and increases channel activity by binding to the cytoplasmic domain and stabilizing the channel in an open conformation (PubMed:19171771). Also contributes to Ca(2+) release from intracellular stores in response to ADP-ribose (PubMed:19454650). Plays a role in numerous processes that involve signaling via intracellular Ca(2+) levels (Probable). Besides, mediates the release of lysosomal Zn(2+) stores in response to reactive oxygen species, leading to increased cytosolic Zn(2+) levels (PubMed:25562606, PubMed:27068538). Activated by moderate heat (35 to 40 degrees Celsius) (PubMed:16601673). Activated by intracellular ADP-ribose, beta-NAD (NAD(+)) and similar compounds, and by oxidative stress caused by reactive oxygen or nitrogen species (PubMed:11960981, PubMed:11385575, PubMed:11509734, PubMed:11804595, PubMed:15561722, PubMed:16601673, PubMed:19171771, PubMed:27383051, PubMed:27068538). The precise physiological activators are under debate; the true, physiological activators may be ADP-ribose and ADP-ribose-2-phosphate (PubMed:20650899, PubMed:25918360). Activation by ADP-ribose and beta-NAD is strongly increased by moderate heat (35 to 40 degrees Celsius) (PubMed:16601673). Likewise, reactive oxygen species lower the threshold for activation by moderate heat (37 degrees Celsius) (PubMed:22493272). Plays a role in mediating behavorial and physiological responses to moderate heat and thereby contributes to body temperature homeostasis. Plays a role in insulin secretion, a process that requires increased cytoplasmic Ca(2+) levels (By similarity). Required for normal IFNG and cytokine secretion and normal innate immune immunity in response to bacterial infection. Required for normal phagocytosis and cytokine release by macrophages exposed to zymosan (in vitro). Plays a role in dendritic cell differentiation and maturation, and in dendritic cell chemotaxis via its role in regulating cytoplasmic Ca(2+) levels (By similarity). Plays a role in the regulation of the reorganization of the actin cytoskeleton and filopodia formation in response to reactive oxygen species via its role in increasing cytoplasmic Ca(2+) and Zn(2+) levels (PubMed:27068538). Confers susceptibility to cell death following oxidative stress (PubMed:12594222, PubMed:25562606).

  • Isoform 2: Lacks cation channel activity. Does not mediate cation transport in response to oxidative stress or ADP-ribose.

  • Isoform 3: Lacks cation channel activity and negatively regulates the channel activity of isoform 1. Negatively regulates susceptibility to cell death in reposponse to oxidative stress.

Gene Wiki entry for TRPM2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRPM2 Gene

Genomics for TRPM2 Gene

Regulatory Elements for TRPM2 Gene

Enhancers for TRPM2 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
GH21F044368 1.5 FANTOM5 Ensembl ENCODE 17.3 +20.0 20001 3.1 PKNOX1 MLX SIN3A ZNF48 GLIS2 KLF7 FOS ZNF263 SP3 SP5 TRPM2 TSPEAR-AS1 ICOSLG TRAPPC10 PIR42451 TRPM2-AS
GH21F044352 0.8 ENCODE 30.8 +3.9 3863 3.8 ELF3 TFAP4 ZNF146 SAP130 ZMYM3 MAX CEBPG RARA POLR2A SCRT2 TRPM2 PIR42451
GH21F043724 1.7 FANTOM5 Ensembl ENCODE 9.2 -617.2 -617227 17.4 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF263 U2AF1 ENSG00000233754 WDR4 PWP2 PDXK RRP1B HSF2BP TRPM2 CSTB H2BFS
GH21F044337 1.1 ENCODE 13.6 -10.8 -10783 3.1 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF143 C21orf2 TRPM2 LRRC3 ENSG00000184441 MTND5P1 SSR4P1 ENSG00000232969
GH21F044374 0.8 Ensembl ENCODE 17.2 +25.1 25075 1.2 MAX ETV6 MYC SPI1 TRPM2 TSPEAR-AS1 C21orf2 PIR42451 TRPM2-AS
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TRPM2 on UCSC Golden Path with GeneCards custom track

Genomic Location for TRPM2 Gene

Chromosome:
21
Start:
44,350,126 bp from pter
End:
44,443,081 bp from pter
Size:
92,956 bases
Orientation:
Plus strand

Genomic View for TRPM2 Gene

Genes around TRPM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRPM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRPM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRPM2 Gene

Proteins for TRPM2 Gene

  • Protein details for TRPM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O94759-TRPM2_HUMAN
    Recommended name:
    Transient receptor potential cation channel subfamily M member 2
    Protein Accession:
    O94759
    Secondary Accessions:
    • D3DSL6
    • Q5KTC2
    • Q6J3P5
    • Q96KN6
    • Q96Q93

    Protein attributes for TRPM2 Gene

    Size:
    1503 amino acids
    Molecular mass:
    171198 Da
    Quaternary structure:
    • Isoform 1 can interact with isoform 3. This interaction decreases calcium influx through isoform 1 and suppresses susceptibility to oxidative stress-induced cell death.
    SequenceCaution:
    • Sequence=BAB64300.1; Type=Frameshift; Positions=1227, 1237; Evidence={ECO:0000305};

    Alternative splice isoforms for TRPM2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for TRPM2 Gene

Post-translational modifications for TRPM2 Gene

  • Ubiquitination at Lys 307
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TRPM2 Gene

Domains & Families for TRPM2 Gene

Graphical View of Domain Structure for InterPro Entry

O94759

UniProtKB/Swiss-Prot:

TRPM2_HUMAN :
  • The cytosolic nudix box binds ADP-ribose and is required for channel activation by ADP-ribose (PubMed:15561722, PubMed:16601673).
  • Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM2 sub-subfamily.
Domain:
  • The cytosolic nudix box binds ADP-ribose and is required for channel activation by ADP-ribose (PubMed:15561722, PubMed:16601673).
  • Contains 1 nudix hydrolase domain.
Family:
  • Belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM2 sub-subfamily.
genes like me logo Genes that share domains with TRPM2: view

Function for TRPM2 Gene

Molecular function for TRPM2 Gene

UniProtKB/Swiss-Prot EnzymeRegulation:
Inactivated by exposure to extracellular pH between 4.0 and 6.5; irreversibly inactivated when open channels are exposed to extracellular pH between 4.0 and 6.5, while pre-exposure of closed channels to extracellular pH 5.5 gives rise to currents that rapidly inactivate, but protects against irreversible inactivation (PubMed:20660597). Inactivated by intracellular ATP (PubMed:11509734). Activated by arachidonic acid (PubMed:11804595).
UniProtKB/Swiss-Prot Function:
Isoform 1: Nonselective, voltage-independent cation channel that mediates Na(+) and Ca(2+) influx, leading to increased cytoplasmic Ca(2+) levels (PubMed:11960981, PubMed:12594222, PubMed:11385575, PubMed:11509734, PubMed:11804595, PubMed:15561722, PubMed:16601673, PubMed:19171771, PubMed:20660597, PubMed:27383051, PubMed:27068538). Extracellular calcium passes through the channel and increases channel activity by binding to the cytoplasmic domain and stabilizing the channel in an open conformation (PubMed:19171771). Also contributes to Ca(2+) release from intracellular stores in response to ADP-ribose (PubMed:19454650). Plays a role in numerous processes that involve signaling via intracellular Ca(2+) levels (Probable). Besides, mediates the release of lysosomal Zn(2+) stores in response to reactive oxygen species, leading to increased cytosolic Zn(2+) levels (PubMed:25562606, PubMed:27068538). Activated by moderate heat (35 to 40 degrees Celsius) (PubMed:16601673). Activated by intracellular ADP-ribose, beta-NAD (NAD(+)) and similar compounds, and by oxidative stress caused by reactive oxygen or nitrogen species (PubMed:11960981, PubMed:11385575, PubMed:11509734, PubMed:11804595, PubMed:15561722, PubMed:16601673, PubMed:19171771, PubMed:27383051, PubMed:27068538). The precise physiological activators are under debate; the true, physiological activators may be ADP-ribose and ADP-ribose-2-phosphate (PubMed:20650899, PubMed:25918360). Activation by ADP-ribose and beta-NAD is strongly increased by moderate heat (35 to 40 degrees Celsius) (PubMed:16601673). Likewise, reactive oxygen species lower the threshold for activation by moderate heat (37 degrees Celsius) (PubMed:22493272). Plays a role in mediating behavorial and physiological responses to moderate heat and thereby contributes to body temperature homeostasis. Plays a role in insulin secretion, a process that requires increased cytoplasmic Ca(2+) levels (By similarity). Required for normal IFNG and cytokine secretion and normal innate immune immunity in response to bacterial infection. Required for normal phagocytosis and cytokine release by macrophages exposed to zymosan (in vitro). Plays a role in dendritic cell differentiation and maturation, and in dendritic cell chemotaxis via its role in regulating cytoplasmic Ca(2+) levels (By similarity). Plays a role in the regulation of the reorganization of the actin cytoskeleton and filopodia formation in response to reactive oxygen species via its role in increasing cytoplasmic Ca(2+) and Zn(2+) levels (PubMed:27068538). Confers susceptibility to cell death following oxidative stress (PubMed:12594222, PubMed:25562606).
UniProtKB/Swiss-Prot Function:
Isoform 2: Lacks cation channel activity. Does not mediate cation transport in response to oxidative stress or ADP-ribose.
UniProtKB/Swiss-Prot Function:
Isoform 3: Lacks cation channel activity and negatively regulates the channel activity of isoform 1. Negatively regulates susceptibility to cell death in reposponse to oxidative stress.

Gene Ontology (GO) - Molecular Function for TRPM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005216 ion channel activity IEA --
GO:0005261 cation channel activity IEA,IMP 27068538
GO:0005262 calcium channel activity IEA,TAS --
GO:0005272 sodium channel activity IEA --
GO:0005509 calcium ion binding IMP 19171771
genes like me logo Genes that share ontologies with TRPM2: view
genes like me logo Genes that share phenotypes with TRPM2: view

Animal Models for TRPM2 Gene

MGI Knock Outs for TRPM2:

Animal Model Products

  • Taconic Biosciences Mouse Models for TRPM2

miRNA for TRPM2 Gene

miRTarBase miRNAs that target TRPM2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for TRPM2 Gene

Localization for TRPM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRPM2 Gene

Cell membrane; Multi-pass membrane protein. Perikaryon. Cell projection. Cytoplasmic vesicle. Lysosome. Note=Detected at the cell membrane and in intracellular vesicles in cortical neurons. Detected on neuronal cell bodies and neurites (By similarity). Detected on the cell membrane in polymorphonuclear neutrophils. Detected on cytoplasmic vesicles and lysosomes in immature bone marrow dendritic cells (By similarity). {ECO:0000250 UniProtKB:E9PTA2, ECO:0000250 UniProtKB:Q91YD4}.
Isoform 1: Cell membrane; Multi-pass membrane protein.
Isoform 2: Cell membrane; Multi-pass membrane protein.
Isoform 3: Cell membrane; Multi-pass membrane protein.

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 TRPM2 gene
Compartment Confidence
plasma membrane 5
lysosome 5
nucleus 2
cytosol 1

Gene Ontology (GO) - Cellular Components for TRPM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IDA 27068538
GO:0005765 lysosomal membrane ISS --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TRPM2: view

Pathways & Interactions for TRPM2 Gene

genes like me logo Genes that share pathways with TRPM2: view

Gene Ontology (GO) - Biological Process for TRPM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001659 temperature homeostasis ISS --
GO:0002407 dendritic cell chemotaxis ISS --
GO:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
genes like me logo Genes that share ontologies with TRPM2: view

No data available for SIGNOR curated interactions for TRPM2 Gene

Drugs & Compounds for TRPM2 Gene

(22) Drugs for TRPM2 Gene - From: DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Clotrimazole Approved, Vet_approved Pharma Inhibition, Pore Blocker, inhibitor Cytochrome P450 inhibitor; antifungal 35
Econazole Approved Pharma Antagonist, Pore Blocker, inhibitor 7
Miconazole Approved, Investigational, Vet_approved Pharma Antagonist, Pore Blocker, inhibitor 3624
Water Approved Pharma 0
Adenosine monophosphate Approved Nutra 0

(7) Additional Compounds for TRPM2 Gene - From: HMDB, IUPHAR, and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
H<sup>+</sup> (extracellular)
Activator
Adenosine diphosphate ribose
  • (Rib5)ppA
  • 5-(Adenosine 5'-pyrophosphoryl)-D-ribose
  • A5'pp5Rib
  • Adenosine 5'-diphosphoribose
  • Adenosine diphosphate ribose
20762-30-5
D-Ribose 5-phosphate
  • D-Ribose 5-phosphate
  • D-Ribose-5-P
  • D-Ribose-5-phosphate
  • D-Ribose-5-phosphorate
  • D-Ribose-5-phosphoric acid
3615-55-2
sodium
  • Sodium
  • Sodium ion
7440-23-5
genes like me logo Genes that share compounds with TRPM2: view

Transcripts for TRPM2 Gene

Unigene Clusters for TRPM2 Gene

Transient receptor potential cation channel, subfamily M, member 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TRPM2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22a · 22b ^ 23a ·
SP1: -
SP2:
SP3: -
SP4: -
SP5:

ExUns: 23b ^ 24a · 24b ^ 25a · 25b ^ 26a · 26b ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33a · 33b
SP1: -
SP2: -
SP3:
SP4:
SP5:

Relevant External Links for TRPM2 Gene

GeneLoc Exon Structure for
TRPM2
ECgene alternative splicing isoforms for
TRPM2

Expression for TRPM2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TRPM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TRPM2 Gene

This gene is overexpressed in Whole Blood (x6.9).

Protein differential expression in normal tissues from HIPED for TRPM2 Gene

This gene is overexpressed in Testis (56.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for TRPM2 Gene



Protein tissue co-expression partners for TRPM2 Gene

NURSA nuclear receptor signaling pathways regulating expression of TRPM2 Gene:

TRPM2

SOURCE GeneReport for Unigene cluster for TRPM2 Gene:

Hs.369759

mRNA Expression by UniProt/SwissProt for TRPM2 Gene:

O94759-TRPM2_HUMAN
Tissue specificity: Highly expressed in brain and peripheral blood cells, such as neutrophils. Also detected in bone marrow, spleen, heart, liver and lung. Isoform 2 is found in neutrophil granulocytes.
genes like me logo Genes that share expression patterns with TRPM2: view

Primer Products

Orthologs for TRPM2 Gene

This gene was present in the common ancestor of animals.

Orthologs for TRPM2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TRPM2 34 35
  • 98.8 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 90 (a)
OneToMany
-- 35
  • 80 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia TRPM2 35
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TRPM2 34
  • 85.36 (n)
-- 35
  • 80 (a)
OneToMany
-- 35
  • 78 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Trpm2 34
  • 83.79 (n)
mouse
(Mus musculus)
Mammalia Trpm2 34 16 35
  • 83.5 (n)
cow
(Bos Taurus)
Mammalia TRPM2 34 35
  • 83.43 (n)
chicken
(Gallus gallus)
Aves TRPM2 34 35
  • 76.27 (n)
lizard
(Anolis carolinensis)
Reptilia TRPM2 35
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trpm2 34
  • 64.05 (n)
zebrafish
(Danio rerio)
Actinopterygii trpm2 35
  • 51 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta trpm 35
  • 20 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea gtl-2 35
  • 25 (a)
ManyToMany
gtl-1 35
  • 20 (a)
ManyToMany
gon-2 35
  • 18 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 34 (a)
OneToMany
Species where no ortholog for TRPM2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 TRPM2 Gene

ENSEMBL:
Gene Tree for TRPM2 (if available)
TreeFam:
Gene Tree for TRPM2 (if available)

Paralogs for TRPM2 Gene

Paralogs for TRPM2 Gene

(7) SIMAP similar genes for TRPM2 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with TRPM2: view

Variants for TRPM2 Gene

Sequence variations from dbSNP and Humsavar for TRPM2 Gene

SNP ID Clin Chr 21 pos Sequence Context AA Info Type
rs1005172 -- 44,414,441(+) TCATG(A/G)GCTCA intron-variant, downstream-variant-500B
rs1005173 -- 44,415,083(+) GCTCC(A/G)ATCCA intron-variant
rs1011557 -- 44,402,723(+) tGCCC(C/T)CCAGG intron-variant
rs10154041 -- 44,429,272(+) ttttt(C/T)ttttt intron-variant
rs10211867 -- 44,399,284(+) CTCAT(A/G)TCTCC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TRPM2 Gene

Variant ID Type Subtype PubMed ID
nsv956730 CNV deletion 24416366
nsv953646 CNV deletion 24416366
nsv817934 CNV loss 17921354
nsv587801 CNV loss 21841781
nsv587800 CNV gain 21841781
nsv587797 CNV loss 21841781
nsv587795 CNV gain+loss 21841781
nsv587785 CNV gain 21841781
nsv587782 CNV loss 21841781
nsv587781 CNV loss 21841781
nsv587740 CNV loss 21841781
nsv519245 CNV loss 19592680
nsv509800 CNV insertion 20534489
nsv3539 CNV insertion 18451855
nsv1149549 CNV deletion 26484159
nsv1114297 CNV deletion 24896259
nsv1076525 CNV duplication 25765185
nsv1071760 CNV deletion 25765185
nsv1058359 CNV gain 25217958
esv6021 CNV loss 19470904
esv3568215 CNV loss 25503493
esv3557806 CNV deletion 23714750
esv33817 CNV loss 17666407
esv3375 CNV loss 18987735
esv27471 CNV gain 19812545
esv27433 CNV gain+loss 19812545
esv2723658 CNV deletion 23290073
esv2723657 CNV deletion 23290073
esv2723656 CNV deletion 23290073
esv2723655 CNV deletion 23290073
esv2723654 CNV deletion 23290073
esv2723653 CNV deletion 23290073
esv2723652 CNV deletion 23290073
esv2723651 CNV deletion 23290073
esv2723649 CNV deletion 23290073
esv2723648 CNV deletion 23290073
esv2723647 CNV deletion 23290073
esv2723646 CNV deletion 23290073
esv2723645 CNV deletion 23290073
esv2723644 CNV deletion 23290073
esv2723638 CNV deletion 23290073
esv2678126 CNV deletion 23128226
esv2673819 CNV deletion 23128226
esv2636773 CNV deletion 19546169
esv2549295 CNV deletion 19546169
esv23823 CNV loss 19812545
esv2310692 CNV deletion 18987734
esv2299983 CNV deletion 18987734
esv1585847 CNV deletion 17803354
esv1540187 CNV deletion 17803354
esv1238729 CNV deletion 17803354
esv1217346 CNV deletion 17803354
esv1196219 CNV deletion 17803354
dgv7890n54 CNV loss 21841781
dgv7889n54 CNV gain+loss 21841781
dgv7888n54 CNV loss 21841781
dgv7887n54 CNV gain 21841781
dgv2505e59 CNV duplication 20981092
dgv2401n106 CNV duplication 24896259

Variation tolerance for TRPM2 Gene

Residual Variation Intolerance Score: 97.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.29; 76.53% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TRPM2 Gene

Human Gene Mutation Database (HGMD)
TRPM2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRPM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRPM2 Gene

Disorders for TRPM2 Gene

Relevant External Links for TRPM2

Genetic Association Database (GAD)
TRPM2
Human Genome Epidemiology (HuGE) Navigator
TRPM2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TRPM2

No disorders were found for TRPM2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for TRPM2 Gene

Publications for TRPM2 Gene

  1. Accumulation of free ADP-ribose from mitochondria mediates oxidative stress-induced gating of TRPM2 cation channels. (PMID: 15561722) Perraud A.L. … Scharenberg A.M. (J. Biol. Chem. 2005) 3 4 22 64
  2. Characterization of human and mouse TRPM2 genes: identification of a novel N-terminal truncated protein specifically expressed in human striatum. (PMID: 15708008) Uemura T. … Shimizu N. (Biochem. Biophys. Res. Commun. 2005) 3 4 22 64
  3. A novel TRPM2 isoform inhibits calcium influx and susceptibility to cell death. (PMID: 12594222) Zhang W. … Miller B.A. (J. Biol. Chem. 2003) 3 4 22 64
  4. LTRPC2 Ca2+-permeable channel activated by changes in redox status confers susceptibility to cell death. (PMID: 11804595) Hara Y. … Mori Y. (Mol. Cell 2002) 3 4 22 64
  5. ADP-ribose gating of the calcium-permeable LTRPC2 channel revealed by Nudix motif homology. (PMID: 11385575) Perraud A.-L. … Scharenberg A.M. (Nature 2001) 2 3 4 64

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