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

Gene ID: 79054, updated on 26-Oct-2022

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; 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 cellular calcium ion homeostasis; response to cold; and thermoception. Located in plasma membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Restricted expression toward prostate (RPKM 48.0) See more
Orthologs
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Try the new Transcript table

Genomic context

See TRPM8 in Genome Data Viewer
Location:
2q37.1
Exon count:
34
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (233917373..234019522)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (234406317..234508483)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (234826018..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 CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:234882993-234884192 Neighboring gene Sharpr-MPRA regulatory region 7512 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 Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

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
enables calcium channel activity TAS
Traceable Author Statement
more info
 
enables cation channel activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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 cation transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cellular calcium ion homeostasis IEA
Inferred from Electronic Annotation
more info
 
involved_in detection of temperature stimulus 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
 
located_in membrane raft IEA
Inferred from Electronic Annotation
more info
 
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in 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)

NEW Try the new Transcript table

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_001397606.1NP_001384535.1  transient receptor potential cation channel subfamily M member 8 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC005538
  2. NM_001397607.1NP_001384536.1  transient receptor potential cation channel subfamily M member 8 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC005538
    UniProtKB/TrEMBL
    A0A1L1Z857
    Conserved Domains (2) summary
    TIGR00870
    Location:607955
    trp; transient-receptor-potential calcium channel protein
    cl39032
    Location:66337
    LSDAT_euk; SLOG in TRPM
  3. NM_001397608.1NP_001384537.1  transient receptor potential cation channel subfamily M member 8 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC005538
  4. NM_001397609.1NP_001384538.1  transient receptor potential cation channel subfamily M member 8 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC005538
    UniProtKB/TrEMBL
    A0A1L1Z836
    Conserved Domains (2) summary
    TIGR00870
    Location:580928
    trp; transient-receptor-potential calcium channel protein
    cl39032
    Location:39310
    LSDAT_euk; SLOG in TRPM
  5. NM_001397610.1NP_001384539.1  transient receptor potential cation channel subfamily M member 8 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC005538
    UniProtKB/TrEMBL
    A0A1L1Z836
    Conserved Domains (2) summary
    TIGR00870
    Location:580928
    trp; transient-receptor-potential calcium channel protein
    cl39032
    Location:39310
    LSDAT_euk; SLOG in TRPM
  6. NM_001397611.1NP_001384540.1  transient receptor potential cation channel subfamily M member 8 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC005538
    UniProtKB/TrEMBL
    A0A1L1Z836
    Conserved Domains (2) summary
    TIGR00870
    Location:580928
    trp; transient-receptor-potential calcium channel protein
    cl39032
    Location:39310
    LSDAT_euk; SLOG in TRPM
  7. NM_001397612.1NP_001384541.1  transient receptor potential cation channel subfamily M member 8 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC005538
  8. NM_001397613.1NP_001384542.1  transient receptor potential cation channel subfamily M member 8 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC005538
  9. NM_001397614.1NP_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:262610
    trp; transient-receptor-potential calcium channel protein
  10. NM_001397615.1NP_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:262610
    trp; transient-receptor-potential calcium channel protein
  11. NM_001397617.1NP_001384546.1  transient receptor potential cation channel subfamily M member 8 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC005538
    UniProtKB/TrEMBL
    A0A1L1Z853
    Conserved Domains (1) summary
    TIGR00870
    Location:41205
    trp; transient-receptor-potential calcium channel protein
  12. NM_001397619.1NP_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:262610
    trp; transient-receptor-potential calcium channel protein
  13. NM_001397620.1NP_001384549.1  transient receptor potential cation channel subfamily M member 8 isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC005538
    UniProtKB/TrEMBL
    A0A1L1Z860
    Conserved Domains (1) summary
    TIGR00870
    Location:41205
    trp; transient-receptor-potential calcium channel protein
  14. NM_001397621.1NP_001384550.1  transient receptor potential cation channel subfamily M member 8 isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC005538
    UniProtKB/TrEMBL
    A0A1L1Z860
    Conserved Domains (1) summary
    TIGR00870
    Location:41205
    trp; transient-receptor-potential calcium channel protein
  15. NM_001397622.1NP_001384551.1  transient receptor potential cation channel subfamily M member 8 isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC005538
    UniProtKB/TrEMBL
    A0A1L1Z860
    Conserved Domains (1) summary
    TIGR00870
    Location:41205
    trp; transient-receptor-potential calcium channel protein
  16. NM_001397623.1NP_001384552.1  transient receptor potential cation channel subfamily M member 8 isoform 12

    Status: VALIDATED

    Source sequence(s)
    AC005538
  17. NM_001397624.1NP_001384553.1  transient receptor potential cation channel subfamily M member 8 isoform 13

    Status: VALIDATED

    Source sequence(s)
    AC005538
  18. NM_001397625.1NP_001384554.1  transient receptor potential cation channel subfamily M member 8 isoform 14

    Status: VALIDATED

    Source sequence(s)
    AC005538
    UniProtKB/TrEMBL
    A0A1L1Z866
    Conserved Domains (1) summary
    TIGR00870
    Location:41205
    trp; transient-receptor-potential calcium channel protein
  19. NM_001397626.1NP_001384555.1  transient receptor potential cation channel subfamily M member 8 isoform 15

    Status: VALIDATED

    Source sequence(s)
    AC005538
  20. NM_001397627.1NP_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:66177
    LSDAT_euk; SLOG in TRPM
  21. NM_001397628.1NP_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:39150
    LSDAT_euk; SLOG in TRPM
  22. NM_001397629.1NP_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:39150
    LSDAT_euk; SLOG in TRPM
  23. NM_001397630.1NP_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:39150
    LSDAT_euk; SLOG in TRPM
  24. NM_001397635.1NP_001384564.1  transient receptor potential cation channel subfamily M member 8 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC005538
  25. NM_024080.5NP_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
    Q7Z2W7, Q9BVK1
    UniProtKB/TrEMBL
    W8DTH1
    Related
    ENSP00000323926.4, ENST00000324695.9
    Conserved Domains (1) summary
    pfam00520
    Location:756989
    Ion_trans; Ion transport protein

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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_011511810.3XP_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_024453133.2XP_024308901.1  transient receptor potential cation channel subfamily M member 8 isoform X3

    Conserved Domains (1) summary
    cl26777
    Location:262610
    TRP_2; Transient receptor ion channel II
  4. XM_047445804.1XP_047301760.1  transient receptor potential cation channel subfamily M member 8 isoform X4

    UniProtKB/TrEMBL
    A0A1L1Z853
    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)