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    TRPM7 transient receptor potential cation channel subfamily M member 7 [ Homo sapiens (human) ]

    Gene ID: 54822, updated on 17-Jun-2024

    Summary

    Official Symbol
    TRPM7provided by HGNC
    Official Full Name
    transient receptor potential cation channel subfamily M member 7provided by HGNC
    Primary source
    HGNC:HGNC:17994
    See related
    Ensembl:ENSG00000092439 MIM:605692; AllianceGenome:HGNC:17994
    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
    CHAK; CHAK1; ALSPDC; LTRPC7; LTrpC-7; TRP-PLIK
    Summary
    This gene belongs to the melastatin subfamily of transient receptor potential family of ion channels. The protein encoded by this gene is both an ion channel and a serine/threonine protein kinase. The kinase activity is essential for the ion channel function, which serves to increase intracellular calcium levels and to help regulate magnesium ion homeostasis. The encoded protein is involved in cytoskeletal organization, cell adhesion, cell migration and organogenesis. Defects in this gene are a cause of amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam. The gene may also be associated with defects of cardiac function. [provided by RefSeq, Aug 2017]
    Expression
    Ubiquitous expression in thyroid (RPKM 8.4), kidney (RPKM 8.2) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See TRPM7 in Genome Data Viewer
    Location:
    15q21.2
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (50557158..50686797, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 15 NC_060939.1 (48365238..48493853, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 15 NC_000015.9 (50849355..50978994, complement)

    Chromosome 15 - NC_000015.10Genomic Context describing neighboring genes Neighboring gene ubiquitin specific peptidase 8 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:50776274-50776376 Neighboring gene ribosomal protein S20 pseudogene 34 Neighboring gene ReSE screen-validated silencer GRCh37_chr15:50801331-50801565 Neighboring gene ubiquitin specific peptidase 50 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr15:50843324-50843838 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr15:50884350-50885549 Neighboring gene uncharacterized LOC128092252 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:50969254-50969754 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr15:50969755-50970255 Neighboring gene H3K27ac hESC enhancer GRCh37_chr15:50978082-50978946 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6429 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 9397 Neighboring gene RNA, 7SL, cytoplasmic 354, pseudogene Neighboring gene MPRA-validated peak2334 silencer Neighboring gene HNF4 motif-containing MPRA enhancer 243 Neighboring gene signal peptide peptidase like 2A Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 6430

    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

    Associated conditions

    Description Tests
    Amyotrophic lateral sclerosis-parkinsonism-dementia complex
    MedGen: C0543859 OMIM: 105500 GeneReviews: Not available
    Compare labs

    EBI GWAS Catalog

    Description
    Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
    EBI GWAS Catalog
    Impact of ancestry and common genetic variants on QT interval in African Americans.
    EBI GWAS Catalog

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    HIV-1 infection (VSV-G pseudotyped) of CEMT4 T cells downregulates plasma membrane expression of TRPM7 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ20117, FLJ25718

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables ATP binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables actin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables calcium channel activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables calcium channel activity TAS
    Traceable Author Statement
    more info
     
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables myosin binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein serine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    enables protein serine/threonine kinase activity IEA
    Inferred from Electronic Annotation
    more info
     
    Process Evidence Code Pubs
    involved_in actomyosin structure organization IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in calcium ion transmembrane transport TAS
    Traceable Author Statement
    more info
     
    involved_in calcium ion transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in calcium-dependent cell-matrix adhesion IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in monoatomic cation homeostasis IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in monoatomic cation transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in necroptotic process IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein tetramerization IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
     
    located_in ruffle IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    Preferred Names
    transient receptor potential cation channel subfamily M member 7
    Names
    LTRPC ion channel family member 7
    channel-kinase 1
    long transient receptor potential channel 7
    transient receptor potential-phospholipase C-interacting kinase
    NP_001288141.1
    NP_060142.3

    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.

    Genomic

    1. NG_021363.2 RefSeqGene

      Range
      5019..134658
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1192

    mRNA and Protein(s)

    1. NM_001301212.2NP_001288141.1  transient receptor potential cation channel subfamily M member 7 isoform b

      See identical proteins and their annotated locations for NP_001288141.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 3' coding region, compared to variant 1, resulting in an isoform (b) that is 1 aa shorter than isoform a.
      Source sequence(s)
      AC084756, AF346629, AY032950, BC028843, BP354541
      Consensus CDS
      CCDS73725.1
      UniProtKB/TrEMBL
      H0YLN8
      Related
      ENSP00000453277.1, ENST00000560955.5
      Conserved Domains (3) summary
      smart00811
      Location:15971815
      Alpha_kinase; Alpha-kinase family
      pfam00520
      Location:8771100
      Ion_trans; Ion transport protein
      pfam16519
      Location:11981249
      TRPM_tetra; Tetramerization domain of TRPM
    2. NM_017672.6NP_060142.3  transient receptor potential cation channel subfamily M member 7 isoform a

      See identical proteins and their annotated locations for NP_060142.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (a).
      Source sequence(s)
      AC084756, AY032950, BC028843, BP354541
      Consensus CDS
      CCDS42035.1
      UniProtKB/Swiss-Prot
      Q6ZMF5, Q86VJ4, Q8NBW2, Q96QT4, Q9BXB2, Q9NXQ2
      Related
      ENSP00000495860.1, ENST00000646667.1
      Conserved Domains (3) summary
      smart00811
      Location:15981816
      Alpha_kinase; Alpha-kinase family
      pfam00520
      Location:8771100
      Ion_trans; Ion transport protein
      pfam16519
      Location:11981249
      TRPM_tetra; Tetramerization domain of TRPM

    RNA

    1. NR_149152.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC084756, BC028843
    2. NR_149153.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC084756, BC028843
    3. NR_149154.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) is represented as non-coding because the use of the 5'-most expected translational start codon renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AC084756, BC028843

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000015.10 Reference GRCh38.p14 Primary Assembly

      Range
      50557158..50686797 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060939.1 Alternate T2T-CHM13v2.0

      Range
      48365238..48493853 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)