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TRPM7

From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
TRPM7
Identifiers
AliasesTRPM7, ALSPDC, CHAK, CHAK1, LTRPC7, LTrpC-7, TRP-PLIK, transient receptor potential cation channel subfamily M member 7
External IDsOMIM:605692;MGI:1929996;HomoloGene:9774;GeneCards:TRPM7;OMA:TRPM7 - orthologs
Gene location (Human)
Chromosome 15 (human)
Chr.Chromosome 15 (human)[1]
Chromosome 15 (human)
Genomic location for TRPM7
Genomic location for TRPM7
Band15q21.2Start50,552,473bp[1]
End50,686,797bp[1]
Gene location (Mouse)
Chromosome 2 (mouse)
Chr.Chromosome 2 (mouse)[2]
Chromosome 2 (mouse)
Genomic location for TRPM7
Genomic location for TRPM7
Band2|2 F1Start126,633,485bp[2]
End126,718,150bp[2]
RNA expression pattern
Bgee
HumanMouse (ortholog)
Top expressed in
  • myocardium of left ventricle

  • Achilles tendon

  • cardiac muscle tissue of right atrium

  • epithelium of colon

  • sural nerve

  • cartilage tissue

  • testicle

  • gastric mucosa

  • right lobe of liver

  • buccal mucosa cell
Top expressed in
  • molar

  • Rostral migratory stream

  • tail of embryo

  • Gonadal ridge

  • parotid gland

  • saccule

  • epithelium of small intestine

  • pineal gland

  • atrium

  • genital tubercle
More reference expression data
BioGPS
n/a
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo /QuickGO
Orthologs
SpeciesHumanMouse
Entrez

54822

58800

Ensembl

ENSG00000092439

ENSMUSG00000027365

UniProt

Q96QT4

Q923J1

RefSeq (mRNA)

NM_001301212
NM_017672

NM_001164325
NM_021450

RefSeq (protein)

NP_001288141
NP_060142

NP_001157797
NP_067425

Location (UCSC)Chr 15: 50.55 – 50.69 MbChr 2: 126.63 – 126.72 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Transient receptor potential cation channel, subfamily M, member 7, also known asTRPM7, is a humangene encoding a protein of the same name.

Function

[edit]

TRPs, mammalian homologs of theDrosophilatransient receptor potential (trp) protein, areion channels that are thought to mediate capacitative calcium entry into the cell. TRPM7 is a protein that is both an ion channel and akinase. As a channel, it conducts calcium and monovalent cations todepolarize cells and increase intracellular calcium. As a kinase, it is capable ofphosphorylating itself and other substrates. The kinase activity is necessary for channel function, as shown by its dependence on intracellularATP and by the kinase mutants.[5]

Interactions

[edit]

TRPM7 has been shown tointeract withPLCB1[6] andPLCB2.[6]

Clinical relevance

[edit]

Patients with pathogenic variants in the TRPM7 gene suffer from hypomagnesemia, seizures and developmental delay.[7][8]


Defects in this gene have been associated with magnesium deficiency in human microvascular endothelial cells.[9]

See also

[edit]

References

[edit]
  1. ^abcGRCh38: Ensembl release 89: ENSG00000092439Ensembl, May 2017
  2. ^abcGRCm38: Ensembl release 89: ENSMUSG00000027365Ensembl, May 2017
  3. ^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^"Entrez Gene: TRPM7 transient receptor potential cation channel, subfamily M, member 7".
  6. ^abRunnels LW, Yue L, Clapham DE (May 2002). "The TRPM7 channel is inactivated by PIP(2) hydrolysis".Nat. Cell Biol.4 (5):329–36.doi:10.1038/ncb781.PMID 11941371.S2CID 21592843.
  7. ^Vargas-Poussou R, Claverie-Martin F, Prot-Bertoye C, Carotti V, van der Wijst J, Perdomo-Ramirez A, Fraga-Rodriguez GM, Hureaux M, Bos C, Latta F, Houillier P, Hoenderop JG, de Baaij JH (2023)."Possible role for rare TRPM7 variants in patients with hypomagnesaemia with secondary hypocalcaemia".Nephrology Dialysis Transplantation.38 (3):679–690.doi:10.1093/ndt/gfac182.PMC 9976740.PMID 35561741.
  8. ^Bosman W, Butler KM, Chang CA, Ganapathi M, Guzman E, Latta F, Chung WK, Claverie-Martin F, Davis JM, Hoenderop JG, de Baaij JH (2024)."Pathogenic heterozygous TRPM7 variants and hypomagnesemia with developmental delay".Clinical Kidney Journal. sfae211 (8) sfae211.doi:10.1093/ckj/sfae211.PMC 11295107.PMID 39099563.
  9. ^Baldoli E, Maier JA (2012). "Silencing TRPM7 mimics the effects of magnesium deficiency in human microvascular endothelial cells".Angiogenesis.15 (1):47–57.doi:10.1007/s10456-011-9242-0.PMID 22183257.S2CID 16274084.

Further reading

[edit]

External links

[edit]

This article incorporates text from theUnited States National Library of Medicine, which is in thepublic domain.

PDB gallery
  • 1ia9: CRYSTAL STRUCTURE OF THE ATYPICAL PROTEIN KINASE DOMAIN OF A TRP CA-CHANNEL, CHAK (AMPPNP COMPLEX)
    1ia9: CRYSTAL STRUCTURE OF THE ATYPICAL PROTEIN KINASE DOMAIN OF A TRP CA-CHANNEL, CHAK (AMPPNP COMPLEX)
  • 1iah: CRYSTAL STRUCTURE OF THE ATYPICAL PROTEIN KINASE DOMAIN OF A TRP CA-CHANNEL, CHAK (ADP-MG COMPLEX)
    1iah: CRYSTAL STRUCTURE OF THE ATYPICAL PROTEIN KINASE DOMAIN OF A TRP CA-CHANNEL, CHAK (ADP-MG COMPLEX)
  • 1iaj: CRYSTAL STRUCTURE OF THE ATYPICAL PROTEIN KINASE DOMAIN OF A TRP CA-CHANNEL, CHAK (APO)
    1iaj: CRYSTAL STRUCTURE OF THE ATYPICAL PROTEIN KINASE DOMAIN OF A TRP CA-CHANNEL, CHAK (APO)
Ligand-gated
Voltage-gated
Constitutively active
Proton-gated
Voltage-gated
Calcium-activated
Inward-rectifier
Tandem pore domain
Voltage-gated
Miscellaneous
Cl:Chloride channel
H+:Proton channel
M+:CNG cation channel
M+:TRP cation channel
H2O (+solutes):Porin
Cytoplasm:Gap junction
By gating mechanism
Ion channel class
see alsodisorders
TRPA
Activators
Blockers
TRPC
Activators
Blockers
TRPM
Activators
Blockers
TRPML
Activators
Blockers
TRPP
Activators
Blockers
TRPV
Activators
Blockers


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