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

Gene ID: 54822, updated on 8-Jan-2023

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
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Genomic context

See TRPM7 in Genome Data Viewer
Location:
15q21.2
Exon count:
43
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 15 NC_000015.10 (50557158..50686797, complement)
110 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 ribosomal protein S20 pseudogene 34 Neighboring gene ubiquitin specific peptidase 50 Neighboring gene RNA, 7SL, cytoplasmic 354, pseudogene Neighboring gene HNF4 motif-containing MPRA enhancer 243 Neighboring gene signal peptide peptidase like 2A

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

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
PubMed 
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
PubMed 
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
PubMed 
involved_in monoatomic cation transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in necroptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in protein autophosphorylation 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
PubMed 
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
XP_005254543.1
XP_016877839.1
XP_016877841.1
XP_016877842.1
XP_016877844.1
XP_047288689.1
XP_047288690.1
XP_047288691.1
XP_047288692.1
XP_047288693.1
XP_047288694.1
XP_047288695.1
XP_047288696.1

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_001301212.2NP_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/Swiss-Prot
    Q96QT4
    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
    Q96QT4, Q9NXQ2
    UniProtKB/TrEMBL
    A0A024R5V1
    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: 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_000015.10 Reference GRCh38.p14 Primary Assembly

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

mRNA and Protein(s)

  1. XM_047432737.1XP_047288693.1  transient receptor potential cation channel subfamily M member 7 isoform X7

  2. XM_005254486.5XP_005254543.1  transient receptor potential cation channel subfamily M member 7 isoform X6

    Conserved Domains (3) summary
    smart00811
    Location:16181836
    Alpha_kinase; Alpha-kinase family
    pfam00520
    Location:8771100
    Ion_trans; Ion transport protein
    pfam16519
    Location:11981249
    TRPM_tetra; Tetramerization domain of TRPM
  3. XM_047432736.1XP_047288692.1  transient receptor potential cation channel subfamily M member 7 isoform X5

  4. XM_047432735.1XP_047288691.1  transient receptor potential cation channel subfamily M member 7 isoform X4

  5. XM_047432734.1XP_047288690.1  transient receptor potential cation channel subfamily M member 7 isoform X2

  6. XM_047432733.1XP_047288689.1  transient receptor potential cation channel subfamily M member 7 isoform X1

  7. XM_017022353.3XP_016877842.1  transient receptor potential cation channel subfamily M member 7 isoform X9

  8. XM_017022352.2XP_016877841.1  transient receptor potential cation channel subfamily M member 7 isoform X8

  9. XM_017022350.2XP_016877839.1  transient receptor potential cation channel subfamily M member 7 isoform X3

  10. XM_017022355.2XP_016877844.1  transient receptor potential cation channel subfamily M member 7 isoform X10

  11. XM_047432739.1XP_047288695.1  transient receptor potential cation channel subfamily M member 7 isoform X12

  12. XM_047432738.1XP_047288694.1  transient receptor potential cation channel subfamily M member 7 isoform X11

  13. XM_047432740.1XP_047288696.1  transient receptor potential cation channel subfamily M member 7 isoform X13

RNA

  1. XR_007064463.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060939.1 Alternate T2T-CHM13v2.0

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