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

Gene ID: 79054, updated on 12-Aug-2018

Summary

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; Vega:OTTHUMG00000059129
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
Expression
Restricted expression toward prostate (RPKM 48.0) See more
Orthologs

Genomic context

See TRPM8 in Genome Data Viewer
Location:
2q37.1
Exon count:
28
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 2 NC_000002.12 (233917342..234019522)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (234826043..234928166)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Holliday junction recognition protein Neighboring gene MSL complex subunit 3 pseudogene 1 Neighboring gene secreted phosphoprotein 2 Neighboring gene uncharacterized LOC105373932

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from BioSystems

  • Inflammatory mediator regulation of TRP channels, organism-specific biosystem (from KEGG)
    Inflammatory mediator regulation of TRP channels, organism-specific biosystemThe TRP channels that exhibit a unique response to temperature have been given the name thermo-TRPs. Among all thermo- TRP channels, TRPV1-4, TRPM8, and TRPA1 are expressed in subsets of nociceptive...
  • Inflammatory mediator regulation of TRP channels, conserved biosystem (from KEGG)
    Inflammatory mediator regulation of TRP channels, conserved biosystemThe TRP channels that exhibit a unique response to temperature have been given the name thermo-TRPs. Among all thermo- TRP channels, TRPV1-4, TRPM8, and TRPA1 are expressed in subsets of nociceptive...
  • 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...
  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC2849

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium channel activity TAS
Traceable Author Statement
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
Process Evidence Code Pubs
calcium ion transmembrane transport TAS
Traceable Author Statement
more info
 
cellular calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
detection of temperature stimulus IEA
Inferred from Electronic Annotation
more info
 
positive regulation of cold-induced thermogenesis ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
protein homotetramerization IEA
Inferred from Electronic Annotation
more info
 
protein homotrimerization IEA
Inferred from Electronic Annotation
more info
 
response to cold IEA
Inferred from Electronic Annotation
more info
 
thermoception IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
endoplasmic reticulum membrane IEA
Inferred from Electronic Annotation
more info
 
external side of plasma membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IEA
Inferred from Electronic Annotation
more info
 
membrane raft 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
 

General protein information

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)

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_024080.4NP_076985.4  transient receptor potential cation channel subfamily M member 8

    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
    Q7Z2W7
    UniProtKB/TrEMBL
    W8DTH1
    Related
    ENSP00000323926.4, OTTHUMP00000065206, ENST00000324695.8, OTTHUMT00000131005
    Conserved Domains (1) summary
    pfam00520
    Location:756989
    Ion_trans; Ion transport protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p12 Primary Assembly

    Range
    233917342..234019522
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011511810.2XP_011510112.1  transient receptor potential cation channel subfamily M member 8 isoform X1

    Conserved Domains (1) summary
    pfam00520
    Location:756989
    Ion_trans; Ion transport protein
  2. XM_017004891.1XP_016860380.1  transient receptor potential cation channel subfamily M member 8 isoform X2

  3. XM_024453132.1XP_024308900.1  transient receptor potential cation channel subfamily M member 8 isoform X3

    Conserved Domains (1) summary
    cl26777
    Location:580928
    TRP_2; Transient receptor ion channel II
  4. XM_024453133.1XP_024308901.1  transient receptor potential cation channel subfamily M member 8 isoform X4

    Conserved Domains (1) summary
    cl26777
    Location:262610
    TRP_2; Transient receptor ion channel II
  5. XM_024453134.1XP_024308902.1  transient receptor potential cation channel subfamily M member 8 isoform X5

    Conserved Domains (1) summary
    cl26777
    Location:262610
    TRP_2; Transient receptor ion channel II
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