TRPM2 transient receptor potential cation channel subfamily M member 2 [Homo sapiens (human)] - Gene

Summary

Official Symbol: TRPM2provided by HGNC
Official Full Name: transient receptor potential cation channel subfamily M member 2provided by HGNC
Primary source: HGNC:HGNC:12339
See related: Ensembl:ENSG00000142185 MIM:603749; AllianceGenome:HGNC:12339
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: KNP3; EREG1; TRPC7; LTRPC2; NUDT9H; LTrpC-2; NUDT9L1
Summary: 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]
Expression: Broad expression in bone marrow (RPKM 4.5), brain (RPKM 2.6) and 21 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 21q22.3

Exon count:: 35

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	21	NC_000021.9 (44353621..44442644)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	21	NC_060945.1 (42704215..42803115)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	21	NC_000021.8 (45773504..45862527)

Chromosome 21 - NC_000021.9 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Targeting Transient Receptor Potential Melastatin-2 (TRPM2) Enhances Therapeutic Efficacy of Third Generation EGFR Inhibitors against EGFR Mutant Lung Cancer.
Title: Targeting Transient Receptor Potential Melastatin-2 (TRPM2) Enhances Therapeutic Efficacy of Third Generation EGFR Inhibitors against EGFR Mutant Lung Cancer.
Evolutionary trajectory of TRPM2 channel activation by adenosine diphosphate ribose and calcium.
Title: Evolutionary trajectory of TRPM2 channel activation by adenosine diphosphate ribose and calcium.
Identification of Ligands for Ion Channels: TRPM2.
Title: Identification of Ligands for Ion Channels: TRPM2.
TRPM2 as a conserved gatekeeper determines the vulnerability of DA neurons by mediating ROS sensing and calcium dyshomeostasis.
Title: TRPM2 as a conserved gatekeeper determines the vulnerability of DA neurons by mediating ROS sensing and calcium dyshomeostasis.
TRPM2-L Participates in the Interleukin-6 Pathway to Enhance Tumor Growth in Prostate Cancer by Hypoxia-Inducible Factor-1alpha.
Title: TRPM2-L Participates in the Interleukin-6 Pathway to Enhance Tumor Growth in Prostate Cancer by Hypoxia-Inducible Factor-1α.
Endoplasmic Reticulum Stress-Related Ten-Biomarker Risk Classifier for Survival Evaluation in Epithelial Ovarian Cancer and TRPM2: A Potential Therapeutic Target of Ovarian Cancer.
Title: Endoplasmic Reticulum Stress-Related Ten-Biomarker Risk Classifier for Survival Evaluation in Epithelial Ovarian Cancer and TRPM2: A Potential Therapeutic Target of Ovarian Cancer.
Knockdown of TRPM2 promotes osteogenic differentiation of human periodontal ligament stem cells by modulating NF-kappaB /NLRP3 pathway.
Title: Knockdown of TRPM2 promotes osteogenic differentiation of human periodontal ligament stem cells by modulating NF-κB /NLRP3 pathway.
TRPM2-mediated Ca[2+] signaling as a potential therapeutic target in cancer treatment: an updated review of its role in survival and proliferation of cancer cells.
Title: TRPM2-mediated Ca(2+) signaling as a potential therapeutic target in cancer treatment: an updated review of its role in survival and proliferation of cancer cells.
TRPM2 facilitates tumor progression of clear cell renal cell carcinoma by relieving Endoplasmic Reticulum Stress.
Title: TRPM2 facilitates tumor progression of clear cell renal cell carcinoma by relieving Endoplasmic Reticulum Stress.
The human ion channel TRPM2 modulates migration and invasion in neuroblastoma through regulation of integrin expression.
Title: The human ion channel TRPM2 modulates migration and invasion in neuroblastoma through regulation of integrin expression.

Submit: New GeneRIF Correction See all GeneRIFs (143)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D21S1870 (e-PCR)
- UniSTS:53776

STS_CEB243 (e-PCR)
- UniSTS:255248

STS_CEB244 (e-PCR)
- UniSTS:255249

STS_CEB245 (e-PCR)
- UniSTS:255250

SHGC-87688 (e-PCR)
- UniSTS:73285

SHGC-51813 (e-PCR)
- UniSTS:11097

Trpm2 (e-PCR), detects polymorphism
- UniSTS:259162

SHGC-154943 (e-PCR)
- UniSTS:183548

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
NOT enables ADP-ribose diphosphatase activity	IDA Inferred from Direct Assay more info	PubMed
enables calcium channel activity	TAS Traceable Author Statement more info
enables calcium ion binding	IDA Inferred from Direct Assay more info	PubMed
enables calcium ion binding	IMP Inferred from Mutant Phenotype more info	PubMed
NOT enables hydrolase activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables intracellularly gated calcium channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables ligand-gated calcium channel activity	IBA Inferred from Biological aspect of Ancestor more info
enables ligand-gated calcium channel activity	IDA Inferred from Direct Assay more info	PubMed
enables manganese ion transmembrane transporter activity	IEA Inferred from Electronic Annotation more info
enables mono-ADP-D-ribose binding	IDA Inferred from Direct Assay more info	PubMed
enables monoatomic cation channel activity	IMP Inferred from Mutant Phenotype more info	PubMed
enables sodium channel activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in calcium ion import across plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
involved_in calcium ion transmembrane import into cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in calcium ion transmembrane transport	IDA Inferred from Direct Assay more info	PubMed
involved_in calcium ion transmembrane transport	TAS Traceable Author Statement more info
involved_in calcium ion transport	TAS Traceable Author Statement more info	PubMed
involved_in calcium-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in cellular response to calcium ion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to hydrogen peroxide	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to temperature stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in dendritic cell chemotaxis	ISS Inferred from Sequence or Structural Similarity more info
involved_in dendritic cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in manganese ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in protein homotetramerization	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of actin cytoskeleton organization	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of filopodium assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in release of sequestered calcium ion into cytosol	IBA Inferred from Biological aspect of Ancestor more info
involved_in release of sequestered calcium ion into cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in release of sequestered calcium ion into cytosol	ISS Inferred from Sequence or Structural Similarity more info
involved_in response to heat	IEA Inferred from Electronic Annotation more info
involved_in response to hydroperoxide	IEA Inferred from Electronic Annotation more info
involved_in response to purine-containing compound	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in sodium ion transmembrane transport	IEA Inferred from Electronic Annotation more info
involved_in temperature homeostasis	ISS Inferred from Sequence or Structural Similarity more info
involved_in zinc ion transmembrane transport	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cytoplasmic vesicle membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in ficolin-1-rich granule membrane	TAS Traceable Author Statement more info
located_in lysosomal membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in lysosome	IDA Inferred from Direct Assay more info	PubMed
located_in perikaryon	IEA Inferred from Electronic Annotation more info
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	IMP Inferred from Mutant Phenotype more info	PubMed
located_in plasma membrane	ISS Inferred from Sequence or Structural Similarity more info
located_in plasma membrane	TAS Traceable Author Statement more info
located_in specific granule membrane	TAS Traceable Author Statement more info
located_in tertiary granule membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: transient receptor potential cation channel subfamily M member 2

Names: estrogen-responsive element-associated gene 1 protein; long transient receptor potential channel 2; transient receptor potential channel 7; transient receptor potential melastatin 2

NP_001307279.2

EC 3.6.1.13

NP_001307280.2

EC 3.6.1.13

NP_001307281.1

EC 3.6.1.13

NP_003298.2

EC 3.6.1.13

XP_011528038.1

EC 3.6.1.13

XP_016883946.1

EC 3.6.1.13

XP_047296933.1

EC 3.6.1.13

XP_047296934.1

EC 3.6.1.13

XP_047296935.1

EC 3.6.1.13

XP_054180807.1

EC 3.6.1.13

XP_054180808.1

EC 3.6.1.13

XP_054180809.1

EC 3.6.1.13

XP_054180810.1

EC 3.6.1.13

XP_054180811.1

EC 3.6.1.13

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_022913.2 RefSeqGene

Range

5002..94025

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001320350.2 → NP_001307279.2 transient receptor potential cation channel subfamily M member 2 isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (3) contains an additional in-frame exon in the 3' coding region, compared to variant 1, which results in a longer isoform (2), compared to isoform 1.

Source sequence(s)

AP001063, AP001064, AP001065

Consensus CDS

CCDS82681.1

UniProtKB/TrEMBL

E9PGK7, Q14DR2

Related

ENSP00000381026.2, ENST00000397932.6

Conserved Domains (3) summary

cd03670
Location:1376 → 1549

ADPRase_NUDT9; ADP-ribose pyrophosphatase (ADPRase) catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. Like other members of the Nudix hydrolase superfamily of enzymes, it is thought to require a divalent cation, such as Mg2+, for its activity. It also ...

pfam00520
Location:803 → 979

Ion_trans; Ion transport protein

cl39032
Location:141 → 364

LSDAT_euk; SLOG in TRPM
NM_001320351.2 → NP_001307280.2 transient receptor potential cation channel subfamily M member 2 isoform 3

Status: REVIEWED

Description

Transcript Variant: This variant (4) lacks an in-frame exon in the 3' coding region, compared to variant 1, which results in a shorter isoform (3), compared to isoform 1.

Source sequence(s)

AP001063, AP001064, AP001065

UniProtKB/TrEMBL

Q14DR2

Related

ENSP00000300481.9, ENST00000300481.13

Conserved Domains (3) summary

cd03670
Location:1292 → 1465

ADPRase_NUDT9; ADP-ribose pyrophosphatase (ADPRase) catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. Like other members of the Nudix hydrolase superfamily of enzymes, it is thought to require a divalent cation, such as Mg2+, for its activity. It also ...

pfam00520
Location:803 → 979

Ion_trans; Ion transport protein

cl39032
Location:141 → 364

LSDAT_euk; SLOG in TRPM
NM_001320352.3 → NP_001307281.1 transient receptor potential cation channel subfamily M member 2 isoform 4

Status: REVIEWED

Description

Transcript Variant: This variant (5) represents use of an alternate promoter and therefore differs in the 5' UTR and 5' coding region, compared to variant 1. These differences cause translation initiation at a downstream start codon and result in an isoform (4) with a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AP001065

UniProtKB/TrEMBL

B4DVI8

Conserved Domains (1) summary

cd03670
Location:7 → 180

ADPRase_NUDT9; ADP-ribose pyrophosphatase (ADPRase) catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. Like other members of the Nudix hydrolase superfamily of enzymes, it is thought to require a divalent cation, such as Mg2+, for its activity. It also ...
NM_001433516.1 → NP_001420445.1 transient receptor potential cation channel subfamily M member 2 isoform 1

Status: REVIEWED

Source sequence(s)

AP001063, AP001064, AP001065
NM_003307.4 → NP_003298.2 transient receptor potential cation channel subfamily M member 2 isoform 1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes isoform 1.

Source sequence(s)

AP001063, AP001064, AP001065

Consensus CDS

CCDS13710.1

UniProtKB/Swiss-Prot

D3DSL6, O94759, Q5KTC2, Q6J3P5, Q96KN6, Q96Q93

UniProtKB/TrEMBL

Q14DR2

Related

ENSP00000381023.1, ENST00000397928.6

Conserved Domains (3) summary

cd03670
Location:1326 → 1499

ADPRase_NUDT9; ADP-ribose pyrophosphatase (ADPRase) catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. Like other members of the Nudix hydrolase superfamily of enzymes, it is thought to require a divalent cation, such as Mg2+, for its activity. It also ...

pfam00520
Location:803 → 979

Ion_trans; Ion transport protein

cl39032
Location:141 → 364

LSDAT_euk; SLOG in TRPM

RNA

NR_038257.2 RNA Sequence

Status: REVIEWED

Description

Transcript Variant: This variant (2) uses an alternate in-frame splice junction at the 5' end of an exon compared to variant 1. This results in the introduction of a premature stop codon and renders the transcript a nonsense-mediated mRNA decay (NMD) candidate. Therefore, this transcript is not thought to be protein-coding.

Source sequence(s)

AP001063, AP001064, AP001065

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

NC_000021.9 Reference GRCh38.p14 Primary Assembly

Range

44353621..44442644

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_011529736.3 → XP_011528038.1 transient receptor potential cation channel subfamily M member 2 isoform X1

UniProtKB/TrEMBL

Q14DR2

Conserved Domains (2) summary

cd03670
Location:1356 → 1529

ADPRase_NUDT9; ADP-ribose pyrophosphatase (ADPRase) catalyzes the hydrolysis of ADP-ribose to AMP and ribose-5-P. Like other members of the Nudix hydrolase superfamily of enzymes, it is thought to require a divalent cation, such as Mg2+, for its activity. It also ...

pfam00520
Location:810 → 979

Ion_trans; Ion transport protein
XM_017028457.3 → XP_016883946.1 transient receptor potential cation channel subfamily M member 2 isoform X2

UniProtKB/TrEMBL

Q14DR2
XM_047440977.1 → XP_047296933.1 transient receptor potential cation channel subfamily M member 2 isoform X3
XM_047440978.1 → XP_047296934.1 transient receptor potential cation channel subfamily M member 2 isoform X4
XM_047440979.1 → XP_047296935.1 transient receptor potential cation channel subfamily M member 2 isoform X5

Alternate T2T-CHM13v2.0

Genomic

NC_060945.1 Alternate T2T-CHM13v2.0

Range

42704215..42803115

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054324832.1 → XP_054180807.1 transient receptor potential cation channel subfamily M member 2 isoform X6
XM_054324833.1 → XP_054180808.1 transient receptor potential cation channel subfamily M member 2 isoform X2
XM_054324834.1 → XP_054180809.1 transient receptor potential cation channel subfamily M member 2 isoform X3
XM_054324835.1 → XP_054180810.1 transient receptor potential cation channel subfamily M member 2 isoform X4
XM_054324836.1 → XP_054180811.1 transient receptor potential cation channel subfamily M member 2 isoform X5

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

NM_001001188.3: Suppressed sequence

Description

NM_001001188.3: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.