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

Gene ID: 54822, updated on 11-Apr-2024

Summary

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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
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Genomic context

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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

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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. TRPM7 is Involved in the Regulation of Proliferation, Migration and Osteogenic Differentiation of Human Dental Follicle Cells. Zuo D, et al. Front Biosci (Landmark Ed), 2023 May 25. PMID 37258464
  2. TRPM7 Elicits Proliferation and Differentiation of Human Lens Epithelial Cells through the TGF-β/Smad Pathways. Yang G, et al. Folia Biol (Praha), 2022. PMID 36384264
  3. Clinical and Prognostic Values of TRPM7 in Colon and Rectal Cancers. Lee JC, et al. Medicina (Kaunas), 2022 Nov 2. PMID 36363540, Free PMC Article
  4. A pan-cancer-bioinformatic-based literature review of TRPM7 in cancers. Liu H, et al. Pharmacol Ther, 2022 Dec. PMID 36332746
  5. A TRPM7 mutation linked to familial trigeminal neuralgia: Omega current and hyperexcitability of trigeminal ganglion neurons. Gualdani R, et al. Proc Natl Acad Sci U S A, 2022 Sep 20. PMID 36095216, Free PMC Article

See all (229) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Knockdown of circ-Gatad1 alleviates LPS induced HK2 cell injury via targeting miR-22-3p/TRPM7 axis in septic acute kidney.
    Title: Knockdown of circ-Gatad1 alleviates LPS induced HK2 cell injury via targeting miR-22-3p/TRPM7 axis in septic acute kidney.
  2. Novel biallelic frameshift in TRPM7 gene causes Hallermann-Streiff syndrome in a consanguineous family: a case report.
    Title: Novel biallelic frameshift in TRPM7 gene causes Hallermann-Streiff syndrome in a consanguineous family: a case report.
  3. The Role of TRPM7 in Oncogenesis.
    Title: The Role of TRPM7 in Oncogenesis.
  4. LncRNA SNHG8 regulates the migration and angiogenesis of pHUVECs induced by high glucose via the TRPM7/ERK1/2 signaling axis.
    Title: LncRNA SNHG8 regulates the migration and angiogenesis of pHUVECs induced by high glucose via the TRPM7/ERK(1/2) signaling axis.
  5. Roles of TRPM7 in ovarian cancer.
    Title: Roles of TRPM7 in ovarian cancer.
  6. Inactivation of TRPM7 Kinase Targets AKT Signaling and Cyclooxygenase-2 Expression in Human CML Cells.
    Title: Inactivation of TRPM7 Kinase Targets AKT Signaling and Cyclooxygenase-2 Expression in Human CML Cells.
  7. TRPM7 mediates endoplasmic reticulum stress and ferroptosis in sepsis-induced myocardial injury.
    Title: TRPM7 mediates endoplasmic reticulum stress and ferroptosis in sepsis-induced myocardial injury.
  8. Downregulation of TRPM7, TRPM8, and TRPV1 channels modulate apoptotic parameters and neurodegenerative markers: Focus on neuronal differentiation and Parkinson's disease model.
    Title: Downregulation of TRPM7, TRPM8, and TRPV1 channels modulate apoptotic parameters and neurodegenerative markers: Focus on neuronal differentiation and Parkinson's disease model.
  9. Altered TRPM7-Dependent Calcium Influx in Natural Killer Cells of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients.
    Title: Altered TRPM7-Dependent Calcium Influx in Natural Killer Cells of Myalgic Encephalomyelitis/Chronic Fatigue Syndrome Patients.
  10. TRPM7 is Involved in the Regulation of Proliferation, Migration and Osteogenic Differentiation of Human Dental Follicle Cells.
    Title: TRPM7 is Involved in the Regulation of Proliferation, Migration and Osteogenic Differentiation of Human Dental Follicle Cells.
Submit: New GeneRIF Correction See all GeneRIFs (180)

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

Associated conditions

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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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

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

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 phosphorylation IEA
Inferred from Electronic Annotation
more info
  
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

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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)

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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.

Genomic

  1. NG_021363.2 RefSeqGene

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

mRNA and Protein(s)

  1. NM_001301212.2 → NP_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:1597 → 1815
    Alpha_kinase; Alpha-kinase family
    pfam00520
    Location:877 → 1100
    Ion_trans; Ion transport protein
    pfam16519
    Location:1198 → 1249
    TRPM_tetra; Tetramerization domain of TRPM

  2. NM_017672.6 → NP_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:1598 → 1816
    Alpha_kinase; Alpha-kinase family
    pfam00520
    Location:877 → 1100
    Ion_trans; Ion transport protein
    pfam16519
    Location:1198 → 1249
    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)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q96QT4.1 GenPept UniProtKB/Swiss-Prot:Q96QT4

Gene LinkOut

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