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

Gene ID: 7226, updated on 1-Aug-2020

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
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

Genomic context

See TRPM2 in Genome Data Viewer
Location:
21q22.3
Exon count:
35
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (44350112..44443081)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (45770046..45862964)

Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene phosphofructokinase, liver type Neighboring gene cilia and flagella associated protein 410 Neighboring gene TRPM2 antisense RNA Neighboring gene LRRC3 divergent transcript Neighboring gene leucine rich repeat containing 3

Genomic regions, transcripts, and products

Expression

  • Project title: 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC133383

Gene Ontology Provided by GOA

Function Evidence Code Pubs
NOT ADP-ribose diphosphatase activity IDA
Inferred from Direct Assay
more info
PubMed 
calcium channel activity TAS
Traceable Author Statement
more info
PubMed 
calcium ion binding IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
calcium-release channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
cation channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cation channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
NOT hydrolase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
ligand-gated calcium channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ligand-gated calcium channel activity IDA
Inferred from Direct Assay
more info
PubMed 
mono-ADP-D-ribose binding IDA
Inferred from Direct Assay
more info
PubMed 
sodium channel activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
calcium ion import across plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
calcium ion transmembrane import into cytosol IMP
Inferred from Mutant Phenotype
more info
PubMed 
calcium ion transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
calcium ion transmembrane transport IDA
Inferred from Direct Assay
more info
PubMed 
calcium ion transmembrane transport TAS
Traceable Author Statement
more info
 
calcium ion transport TAS
Traceable Author Statement
more info
PubMed 
calcium-mediated signaling using intracellular calcium source ISS
Inferred from Sequence or Structural Similarity
more info
 
cation transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
cellular response to calcium ion IMP
Inferred from Mutant Phenotype
more info
PubMed 
cellular response to hydrogen peroxide IDA
Inferred from Direct Assay
more info
PubMed 
cellular response to purine-containing compound ISS
Inferred from Sequence or Structural Similarity
more info
 
cellular response to temperature stimulus ISS
Inferred from Sequence or Structural Similarity
more info
 
dendritic cell chemotaxis ISS
Inferred from Sequence or Structural Similarity
more info
 
dendritic cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
divalent metal ion transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
neutrophil degranulation TAS
Traceable Author Statement
more info
 
protein homotetramerization IDA
Inferred from Direct Assay
more info
PubMed 
regulation of actin cytoskeleton reorganization IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of filopodium assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
release of sequestered calcium ion into cytosol IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
release of sequestered calcium ion into cytosol IMP
Inferred from Mutant Phenotype
more info
PubMed 
release of sequestered calcium ion into cytosol ISS
Inferred from Sequence or Structural Similarity
more info
 
response to purine-containing compound IMP
Inferred from Mutant Phenotype
more info
PubMed 
sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
temperature homeostasis ISS
Inferred from Sequence or Structural Similarity
more info
 
zinc ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cell projection IEA
Inferred from Electronic Annotation
more info
 
cytoplasmic vesicle membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
ficolin-1-rich granule membrane TAS
Traceable Author Statement
more info
 
integral component of plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
integral component of plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane IMP
Inferred from Mutant Phenotype
more info
PubMed 
integral component of plasma membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
lysosomal membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
perikaryon IEA
Inferred from Electronic Annotation
more info
 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
specific granule membrane TAS
Traceable Author Statement
more info
 
tertiary granule membrane TAS
Traceable Author Statement
more info
 

General protein information

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_001307279.1
NP_001307280.1
NP_001307281.1
NP_003298.1
XP_005261228.1
XP_011528038.1
XP_016883945.1
XP_016883946.1

NCBI Reference Sequences (RefSeq)

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

  1. NG_022913.1 RefSeqGene

    Range
    5001..94481
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001320350.1NP_001307279.1  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)
    AB166745, BC112342, EU362987
    Consensus CDS
    CCDS82681.1
    UniProtKB/Swiss-Prot
    O94759
    UniProtKB/TrEMBL
    B4DVI8, Q14DR2
    Related
    ENSP00000381026.2, ENST00000397932.6
    Conserved Domains (2) summary
    cd03670
    Location:13761549
    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:810979
    Ion_trans; Ion transport protein
  2. NM_001320351.1NP_001307280.1  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)
    AB166745, AJ417076, BC112342, EU362987
    UniProtKB/Swiss-Prot
    O94759
    UniProtKB/TrEMBL
    B4DVI8, Q14DR2
    Related
    ENSP00000300481.9, ENST00000300481.13
    Conserved Domains (2) summary
    cd03670
    Location:12921465
    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:810979
    Ion_trans; Ion transport protein
  3. NM_001320352.1NP_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)
    EU362987
    UniProtKB/TrEMBL
    B4DVI8
    Conserved Domains (1) summary
    cd03670
    Location:7180
    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 ...
  4. NM_003307.3NP_003298.1  transient receptor potential cation channel subfamily M member 2 isoform 1

    See identical proteins and their annotated locations for NP_003298.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes isoform 1.
    Source sequence(s)
    AB166745, AJ417076, AP001065, BI906484
    Consensus CDS
    CCDS13710.1
    UniProtKB/Swiss-Prot
    O94759
    Related
    ENSP00000381023.1, ENST00000397928.5
    Conserved Domains (2) summary
    cd03670
    Location:13261499
    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:810979
    Ion_trans; Ion transport protein

RNA

  1. NR_038257.1 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)
    AB166745, AJ878416, AP001065, EU362987

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20200522

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

    Range
    44350112..44443081
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017028456.1XP_016883945.1  transient receptor potential cation channel subfamily M member 2 isoform X1

    Conserved Domains (2) summary
    cd03670
    Location:13561529
    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:810979
    Ion_trans; Ion transport protein
  2. XM_005261171.3XP_005261228.1  transient receptor potential cation channel subfamily M member 2 isoform X2

    See identical proteins and their annotated locations for XP_005261228.1

    UniProtKB/Swiss-Prot
    O94759
    Related
    ENSP00000300482.5, ENST00000300482.9
    Conserved Domains (2) summary
    cd03670
    Location:13261499
    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:810979
    Ion_trans; Ion transport protein
  3. XM_011529736.2XP_011528038.1  transient receptor potential cation channel subfamily M member 2 isoform X1

    Conserved Domains (2) summary
    cd03670
    Location:13561529
    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:810979
    Ion_trans; Ion transport protein
  4. XM_017028457.2XP_016883946.1  transient receptor potential cation channel subfamily M member 2 isoform X3

RNA

  1. XR_002958631.1 RNA Sequence

  2. XR_001754900.2 RNA Sequence

  3. XR_001754901.2 RNA Sequence

  4. XR_001754902.2 RNA Sequence

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001001188.3: Suppressed sequence

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