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

Gene ID: 7226, updated on 15-May-2016
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 HPRD:04777; MIM:603749; Vega:OTTHUMG00000040840
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]
Orthologs
Location:
21q22.3
Exon count:
36
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 21 NC_000021.9 (44350126..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 chromosome 21 open reading frame 2 Neighboring gene TRPM2 antisense RNA Neighboring gene LRRC3 antisense RNA 1 (head to head) Neighboring gene leucine rich repeat containing 3

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

  • Ion channel transport, organism-specific biosystem (from REACTOME)
    Ion channel transport, organism-specific biosystemIon channels mediate the flow of ions across the plasma membrane of cells. They are integral membrane proteins, typically a multimer of proteins, which, when arranged in the membrane, create a pore f...
  • Oxytocin signaling pathway, organism-specific biosystem (from KEGG)
    Oxytocin signaling pathway, organism-specific biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
  • Oxytocin signaling pathway, conserved biosystem (from KEGG)
    Oxytocin signaling pathway, conserved biosystemOxytocin (OT) is a nonapeptide synthesized by the magno-cellular neurons located in the supraoptic (SON) and paraventricular (PVN) nuclei of the hypothalamus. It exerts a wide variety of central and ...
  • Stimuli-sensing channels, organism-specific biosystem (from REACTOME)
    Stimuli-sensing channels, organism-specific biosystemIon channels that mediate sensations such as pain, warmth, cold, taste pressure and vision. Channels that mediate these sensations include acid-sensing ion channels (ASICs) (Wang & Xu 2011, Qadri et ...
  • TRP channels, organism-specific biosystem (from REACTOME)
    TRP channels, organism-specific biosystemTransient receptor potential (TRP) channel proteins were first discovered in Drosophila melanogaster and have many homologues in other species including humans. TRPs form cationic channels that can ...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC133383

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ADP-ribose diphosphatase activity IEA
Inferred from Electronic Annotation
more info
 
calcium channel activity TAS
Traceable Author Statement
more info
 
sodium channel activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
calcium ion import across plasma membrane IEA
Inferred from Electronic Annotation
more info
 
calcium ion transmembrane transport TAS
Traceable Author Statement
more info
 
calcium ion transport TAS
Traceable Author Statement
more info
PubMed 
estrous cycle IEA
Inferred from Electronic Annotation
more info
 
positive regulation of insulin secretion IEA
Inferred from Electronic Annotation
more info
 
positive regulation of oxidative stress-induced neuron death IEA
Inferred from Electronic Annotation
more info
 
response to oxidative stress IEA
Inferred from Electronic Annotation
more info
 
sodium ion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
intracellular IEA
Inferred from Electronic Annotation
more info
 
neuron projection IEA
Inferred from Electronic Annotation
more info
 
neuronal cell body IEA
Inferred from Electronic Annotation
more info
 
plasma membrane TAS
Traceable Author Statement
more info
 
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 cation channel, subfamily M, member 2
transient receptor potential channel 7
NP_003298.1

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
    UniProtKB/Swiss-Prot
    O94759
    UniProtKB/TrEMBL
    B4DVI8, Q14DR2
    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:830981
    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
    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:830981
    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

    See identical proteins and their annotated locations for NP_003298.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) is the protein-coding variant.
    Source sequence(s)
    AB166745, AJ417076, AP001065, BI906484
    Consensus CDS
    CCDS13710.1
    UniProtKB/Swiss-Prot
    O94759
    Related
    ENSP00000381023, OTTHUMP00000038504, ENST00000397928, OTTHUMT00000098086
    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:830981
    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
    Related
    ENST00000498430

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000021.9 Reference GRCh38.p2 Primary Assembly

    Range
    44350126..44443081
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011529735.1XP_011528037.1  

    See identical proteins and their annotated locations for XP_011528037.1

    UniProtKB/TrEMBL
    E9PGK7
    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:830981
    Ion_trans; Ion transport protein
  2. XM_005261171.2XP_005261228.1  

    See identical proteins and their annotated locations for XP_005261228.1

    UniProtKB/Swiss-Prot
    O94759
    Related
    ENSP00000300482, OTTHUMP00000109530, ENST00000300482, OTTHUMT00000195849
    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:830981
    Ion_trans; Ion transport protein
  3. XM_011529736.1XP_011528038.1  

    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:830981
    Ion_trans; Ion transport protein
  4. XM_011529734.1XP_011528036.1  

    Related
    ENSP00000381026, OTTHUMP00000207883, ENST00000397932, OTTHUMT00000339787
    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:830981
    Ion_trans; Ion transport protein
  5. XM_011529737.1XP_011528039.1  

    Conserved Domains (2) summary
    cd03670
    Location:13421515
    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:830981
    Ion_trans; Ion transport protein
  6. XM_006724049.2XP_006724112.1  

    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:830981
    Ion_trans; Ion transport protein

RNA

  1. XR_937565.1 RNA Sequence

  2. XR_937566.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018932.2 Alternate CHM1_1.1

    Range
    45334322..45423804
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.