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    TRPM8 transient receptor potential cation channel subfamily M member 8 [ Homo sapiens (human) ]

    Gene ID: 79054, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TRPM8provided by HGNC
    Official Full Name
    transient receptor potential cation channel subfamily M member 8provided by HGNC
    Primary source
    HGNC:HGNC:17961
    See related
    Ensembl:ENSG00000144481 MIM:606678; AllianceGenome:HGNC:17961
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TRPP8; LTRPC6; trp-p8; LTrpC-6
    Summary
    Predicted to enable ligand-gated calcium channel activity. Predicted to be involved in calcium ion transmembrane transport and positive regulation of cold-induced thermogenesis. Predicted to act upstream of or within several processes, including intracellular calcium ion homeostasis; response to cold; and thermoception. Located in plasma membrane. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Restricted expression toward prostate (RPKM 48.0) See more
    Orthologs
    mouse all
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    Genomic context

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    See TRPM8 in Genome Data Viewer
    Location:
    2q37.1
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (233917373..234019522)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (234406317..234508483)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (234826018..234928166)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:234759038-234759538 Neighboring gene H3K27ac hESC enhancer GRCh37_chr2:234763063-234764055 Neighboring gene Holliday junction recognition protein Neighboring gene MSL complex subunit 3B Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:234882993-234884192 Neighboring gene Sharpr-MPRA regulatory region 7512 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17351 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:234920120-234920398 Neighboring gene secreted phosphoprotein 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr2:235066116-235066288 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr2:235072133-235073332 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr2:235077257-235077756 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:235079950-235080452 Neighboring gene uncharacterized LOC105373932

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. TRPM8 ion channels differentially modulate proliferation and cell cycle distribution of normal and cancer prostate cells. Valero ML, et al. PLoS One, 2012. PMID 23251635, Free PMC Article
    2. [Respiratory system response to cooling in subjects with single nucleotide polymorphism rs11562975 in gene of thermosensitive TRPM8 ion channel]. Kozyreva TV, et al. Fiziol Cheloveka, 2014 Mar-Apr. PMID 25272712
    3. Over-expression of TRPM8 is associated with poor prognosis in urothelial carcinoma of bladder. Xiao N, et al. Tumour Biol, 2014 Nov. PMID 25128062
    4. Inhibition of TRPM8 channels reduces pain in the cold pressor test in humans. Winchester WJ, et al. J Pharmacol Exp Ther, 2014 Nov. PMID 25125580
    5. TRPM8. Almaraz L, et al. Handb Exp Pharmacol, 2014. PMID 24756721

    See all (192) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Implications of TRPM3 and TRPM8 for sensory neuron sensitisation.
      Title: Implications of TRPM3 and TRPM8 for sensory neuron sensitisation.
    2. TRPM8 overexpression suppresses hepatocellular carcinoma progression and improves survival by modulating the RTP3/STAT3 pathway.
      Title: TRPM8 overexpression suppresses hepatocellular carcinoma progression and improves survival by modulating the RTP3/STAT3 pathway.
    3. Neuregulin 1 mitigated prolactin deficiency through enhancing TRPM8 signaling under the influence of melatonin in senescent pituitary lactotrophs.
      Title: Neuregulin 1 mitigated prolactin deficiency through enhancing TRPM8 signaling under the influence of melatonin in senescent pituitary lactotrophs.
    4. Cold temperature induces a TRPM8-independent calcium release from the endoplasmic reticulum in human platelets.
      Title: Cold temperature induces a TRPM8-independent calcium release from the endoplasmic reticulum in human platelets.
    5. Sterile inflammation via TRPM8 RNA-dependent TLR3-NF-kB/IRF3 activation promotes antitumor immunity in prostate cancer.
      Title: Sterile inflammation via TRPM8 RNA-dependent TLR3-NF-kB/IRF3 activation promotes antitumor immunity in prostate cancer.
    6. Joint CB1 and NGF Receptor Activation Suppresses TRPM8 Activation in Etoposide-Resistant Retinoblastoma Cells.
      Title: Joint CB1 and NGF Receptor Activation Suppresses TRPM8 Activation in Etoposide-Resistant Retinoblastoma Cells.
    7. TCAF2 in Pericytes Promotes Colorectal Cancer Liver Metastasis via Inhibiting Cold-Sensing TRPM8 Channel.
      Title: TCAF2 in Pericytes Promotes Colorectal Cancer Liver Metastasis via Inhibiting Cold-Sensing TRPM8 Channel.
    8. Structure of human TRPM8 channel.
      Title: Structure of human TRPM8 channel.
    9. TRPM8 as a Potential Biomarker and Therapeutic Target for Gastric Cancer Identified by a Combination of Text Mining and RNA Sequencing.
      Title: TRPM8 as a Potential Biomarker and Therapeutic Target for Gastric Cancer Identified by a Combination of Text Mining and RNA Sequencing.
    10. Functional expression of the thermally activated transient receptor potential channels TRPA1 and TRPM8 in human myotubes.
      Title: Functional expression of the thermally activated transient receptor potential channels TRPA1 and TRPM8 in human myotubes.
    Submit: New GeneRIF Correction See all GeneRIFs (167)

    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

    EBI GWAS Catalog

    Description
    A genome-wide association study of behavioral disinhibition.
    EBI GWAS Catalog
    Genome-wide association analysis identifies susceptibility loci for migraine without aura.
    EBI GWAS Catalog
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    EBI GWAS Catalog
    Genome-wide association study identifies 8 novel loci associated with blood pressure responses to interventions in Han Chinese.
    EBI GWAS Catalog
    Genome-wide association study reveals three susceptibility loci for common migraine in the general population.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies new susceptibility loci for migraine.
    EBI GWAS Catalog

    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

    Homology

    Clone Names

    • MGC2849

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium channel activity TAS
    Traceable Author Statement
    more info
    		  
    enables identical protein binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables ligand-gated calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in calcium ion transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in calcium ion transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in calcium-mediated signaling IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in intracellular calcium ion homeostasis IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of cold-induced thermogenesis ISS
    Inferred from Sequence or Structural Similarity
    more info
    		 PubMed 
    involved_in response to cold IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in thermoception IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in external side of plasma membrane 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 TAS
    Traceable Author Statement
    more info
    		  
    located_in plasma membrane raft IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transient receptor potential cation channel subfamily M member 8
    Names
    TRPM8 cationic channel
    transient receptor potential p8
    transient receptor potential subfamily M member 8

    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.

    mRNA and Protein(s)

    1. NM_001397606.1 → NP_001384535.1  transient receptor potential cation channel subfamily M member 8 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC005538
      UniProtKB/TrEMBL
      A0A1L1Z830

    2. NM_001397607.1 → NP_001384536.1  transient receptor potential cation channel subfamily M member 8 isoform 3

      Status: VALIDATED

      Source sequence(s)
      AC005538
      UniProtKB/TrEMBL
      A0A1L1Z847, A0A1L1Z857
      Conserved Domains (2) summary
      TIGR00870
      Location:607 → 955
      trp; transient-receptor-potential calcium channel protein
      cl39032
      Location:66 → 337
      LSDAT_euk; SLOG in TRPM

    3. NM_001397608.1 → NP_001384537.1  transient receptor potential cation channel subfamily M member 8 isoform 4

      Status: VALIDATED

      Source sequence(s)
      AC005538
      UniProtKB/TrEMBL
      A0A1L1Z843

    4. NM_001397609.1 → NP_001384538.1  transient receptor potential cation channel subfamily M member 8 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC005538
      UniProtKB/TrEMBL
      A0A1L1Z836, A0A1L1Z847
      Conserved Domains (2) summary
      TIGR00870
      Location:580 → 928
      trp; transient-receptor-potential calcium channel protein
      cl39032
      Location:39 → 310
      LSDAT_euk; SLOG in TRPM

    5. NM_001397610.1 → NP_001384539.1  transient receptor potential cation channel subfamily M member 8 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC005538
      UniProtKB/TrEMBL
      A0A1L1Z836, A0A1L1Z847
      Conserved Domains (2) summary
      TIGR00870
      Location:580 → 928
      trp; transient-receptor-potential calcium channel protein
      cl39032
      Location:39 → 310
      LSDAT_euk; SLOG in TRPM

    6. NM_001397611.1 → NP_001384540.1  transient receptor potential cation channel subfamily M member 8 isoform 5

      Status: VALIDATED

      Source sequence(s)
      AC005538
      UniProtKB/TrEMBL
      A0A1L1Z836, A0A1L1Z847
      Conserved Domains (2) summary
      TIGR00870
      Location:580 → 928
      trp; transient-receptor-potential calcium channel protein
      cl39032
      Location:39 → 310
      LSDAT_euk; SLOG in TRPM

    7. NM_001397612.1 → NP_001384541.1  transient receptor potential cation channel subfamily M member 8 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC005538
      UniProtKB/TrEMBL
      A0A1L1Z852

    8. NM_001397613.1 → NP_001384542.1  transient receptor potential cation channel subfamily M member 8 isoform 6

      Status: VALIDATED

      Source sequence(s)
      AC005538
      UniProtKB/TrEMBL
      A0A1L1Z852

    9. NM_001397614.1 → NP_001384543.1  transient receptor potential cation channel subfamily M member 8 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC005538
      UniProtKB/TrEMBL
      A0A1L1Z856
      Conserved Domains (1) summary
      TIGR00870
      Location:262 → 610
      trp; transient-receptor-potential calcium channel protein

    10. NM_001397615.1 → NP_001384544.1  transient receptor potential cation channel subfamily M member 8 isoform 8

      Status: VALIDATED

      Source sequence(s)
      AC005538
      UniProtKB/TrEMBL
      A0A1L1Z856
      Conserved Domains (1) summary
      TIGR00870
      Location:262 → 610
      trp; transient-receptor-potential calcium channel protein

    11. NM_001397617.1 → NP_001384546.1  transient receptor potential cation channel subfamily M member 8 isoform 10

      Status: VALIDATED

      Source sequence(s)
      AC005538
      UniProtKB/TrEMBL
      A0A1L1Z853, B4E1F2
      Conserved Domains (1) summary
      TIGR00870
      Location:41 → 205
      trp; transient-receptor-potential calcium channel protein

    12. NM_001397619.1 → NP_001384548.1  transient receptor potential cation channel subfamily M member 8 isoform 9

      Status: VALIDATED

      Source sequence(s)
      AC005538
      UniProtKB/TrEMBL
      A0A1L1Z878
      Conserved Domains (1) summary
      TIGR00870
      Location:262 → 610
      trp; transient-receptor-potential calcium channel protein

    13. NM_001397620.1 → NP_001384549.1  transient receptor potential cation channel subfamily M member 8 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC005538
      UniProtKB/TrEMBL
      A0A1L1Z860, B4E1F2
      Conserved Domains (1) summary
      TIGR00870
      Location:41 → 205
      trp; transient-receptor-potential calcium channel protein

    14. NM_001397621.1 → NP_001384550.1  transient receptor potential cation channel subfamily M member 8 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC005538
      UniProtKB/TrEMBL
      A0A1L1Z860, B4E1F2
      Conserved Domains (1) summary
      TIGR00870
      Location:41 → 205
      trp; transient-receptor-potential calcium channel protein

    15. NM_001397622.1 → NP_001384551.1  transient receptor potential cation channel subfamily M member 8 isoform 11

      Status: VALIDATED

      Source sequence(s)
      AC005538
      UniProtKB/TrEMBL
      A0A1L1Z860, B4E1F2
      Conserved Domains (1) summary
      TIGR00870
      Location:41 → 205
      trp; transient-receptor-potential calcium channel protein

    16. NM_001397623.1 → NP_001384552.1  transient receptor potential cation channel subfamily M member 8 isoform 12

      Status: VALIDATED

      Source sequence(s)
      AC005538
      UniProtKB/TrEMBL
      A0A1L1Z865

    17. NM_001397624.1 → NP_001384553.1  transient receptor potential cation channel subfamily M member 8 isoform 13

      Status: VALIDATED

      Source sequence(s)
      AC005538
      UniProtKB/TrEMBL
      A0A1L1Z877

    18. NM_001397625.1 → NP_001384554.1  transient receptor potential cation channel subfamily M member 8 isoform 14

      Status: VALIDATED

      Source sequence(s)
      AC005538
      UniProtKB/TrEMBL
      A0A1L1Z866, A0A1L1Z877
      Conserved Domains (1) summary
      TIGR00870
      Location:41 → 205
      trp; transient-receptor-potential calcium channel protein

    19. NM_001397626.1 → NP_001384555.1  transient receptor potential cation channel subfamily M member 8 isoform 15

      Status: VALIDATED

      Source sequence(s)
      AC005538
      UniProtKB/TrEMBL
      A0A1L1Z839

    20. NM_001397627.1 → NP_001384556.1  transient receptor potential cation channel subfamily M member 8 isoform 16

      Status: VALIDATED

      Source sequence(s)
      AC005538
      Consensus CDS
      CCDS92975.1
      UniProtKB/TrEMBL
      A0A0C4DFT0
      Related
      ENSP00000347956.4, ENST00000355722.8
      Conserved Domains (1) summary
      cl39032
      Location:66 → 177
      LSDAT_euk; SLOG in TRPM

    21. NM_001397628.1 → NP_001384557.1  transient receptor potential cation channel subfamily M member 8 isoform 17

      Status: VALIDATED

      Source sequence(s)
      AC005538
      Consensus CDS
      CCDS92976.1
      UniProtKB/TrEMBL
      A0A1L1Z822
      Conserved Domains (1) summary
      cl39032
      Location:39 → 150
      LSDAT_euk; SLOG in TRPM

    22. NM_001397629.1 → NP_001384558.1  transient receptor potential cation channel subfamily M member 8 isoform 17

      Status: VALIDATED

      Source sequence(s)
      AC005538
      Consensus CDS
      CCDS92976.1
      UniProtKB/TrEMBL
      A0A1L1Z822
      Related
      ENSP00000386771.1, ENST00000409625.1
      Conserved Domains (1) summary
      cl39032
      Location:39 → 150
      LSDAT_euk; SLOG in TRPM

    23. NM_001397630.1 → NP_001384559.1  transient receptor potential cation channel subfamily M member 8 isoform 17

      Status: VALIDATED

      Source sequence(s)
      AC005538
      Consensus CDS
      CCDS92976.1
      UniProtKB/TrEMBL
      A0A1L1Z822
      Conserved Domains (1) summary
      cl39032
      Location:39 → 150
      LSDAT_euk; SLOG in TRPM

    24. NM_001397635.1 → NP_001384564.1  transient receptor potential cation channel subfamily M member 8 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC005538
      UniProtKB/TrEMBL
      A0A1L1Z859

    25. NM_024080.5 → NP_076985.4  transient receptor potential cation channel subfamily M member 8 isoform 1

      See identical proteins and their annotated locations for NP_076985.4

      Status: VALIDATED

      Source sequence(s)
      AC005538, AY090109, BC001135, BC033137
      Consensus CDS
      CCDS33407.1
      UniProtKB/Swiss-Prot
      A0AVG2, Q3YFM7, Q6QNH9, Q7Z2W7, Q8TAC3, Q8TDX8, Q9BVK1
      UniProtKB/TrEMBL
      A0A1L1Z843, W8DTH1
      Related
      ENSP00000323926.4, ENST00000324695.9
      Conserved Domains (1) summary
      pfam00520
      Location:756 → 989
      Ion_trans; Ion transport protein

    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

    1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

      Range
      233917373..234019522
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011511810.3 → XP_011510112.1  transient receptor potential cation channel subfamily M member 8 isoform X1

      UniProtKB/TrEMBL
      A0A1L1Z843
      Conserved Domains (1) summary
      pfam00520
      Location:756 → 989
      Ion_trans; Ion transport protein

    2. XM_017004891.1 → XP_016860380.1  transient receptor potential cation channel subfamily M member 8 isoform X2

      UniProtKB/TrEMBL
      A0A1L1Z852

    3. XM_024453133.2 → XP_024308901.1  transient receptor potential cation channel subfamily M member 8 isoform X3

      Conserved Domains (1) summary
      cl26777
      Location:262 → 610
      TRP_2; Transient receptor ion channel II

    4. XM_047445804.1 → XP_047301760.1  transient receptor potential cation channel subfamily M member 8 isoform X4

      UniProtKB/TrEMBL
      A0A1L1Z853, B4E1F2
      Related
      ENSP00000414198.1, ENST00000456930.1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060926.1 Alternate T2T-CHM13v2.0

      Range
      234406317..234508483
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054343843.1 → XP_054199818.1  transient receptor potential cation channel subfamily M member 8 isoform X1

      UniProtKB/TrEMBL
      A0A1L1Z843

    2. XM_054343844.1 → XP_054199819.1  transient receptor potential cation channel subfamily M member 8 isoform X2

      UniProtKB/TrEMBL
      A0A1L1Z852

    3. XM_054343845.1 → XP_054199820.1  transient receptor potential cation channel subfamily M member 8 isoform X3

    4. XM_054343846.1 → XP_054199821.1  transient receptor potential cation channel subfamily M member 8 isoform X4

      UniProtKB/TrEMBL
      A0A1L1Z853, B4E1F2
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q7Z2W7.2 GenPept UniProtKB/Swiss-Prot:Q7Z2W7

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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