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Aliases for TRPM6 Gene

Aliases for TRPM6 Gene

  • Transient Receptor Potential Cation Channel, Subfamily M, Member 6 2 3
  • CHAK2 3 4 6
  • Melastatin-Related TRP Cation Channel 6 3 4
  • Channel Kinase 2 3 4
  • EC 2.7.11.1 4 64
  • HOMG1 3 6
  • Transient Receptor Potential Cation Channel Subfamily M Member 6 3
  • Hypomagnesemia, Secondary Hypocalcemia 2
  • HMGX 3
  • HOMG 3
  • HSH 3

External Ids for TRPM6 Gene

Previous Symbols for TRPM6 Gene

  • HOMG
  • HSH

Summaries for TRPM6 Gene

Entrez Gene Summary for TRPM6 Gene

  • This gene is predominantly expressed in the kidney and colon, and encodes a protein containing an ion channel domain and a protein kinase domain. It is crucial for magnesium homeostasis, and plays an essential role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Mutations in this gene are associated with hypomagnesemia with secondary hypocalcemia. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Apr 2010]

GeneCards Summary for TRPM6 Gene

TRPM6 (Transient Receptor Potential Cation Channel, Subfamily M, Member 6) is a Protein Coding gene. Diseases associated with TRPM6 include hypomagnesemia 1, intestinal and primary hypomagnesemia with secondary hypocalcemia. Among its related pathways are CREB Pathway and Ion channel transport. GO annotations related to this gene include protein serine/threonine kinase activity and calcium channel activity. An important paralog of this gene is TRPM1.

UniProtKB/Swiss-Prot for TRPM6 Gene

  • Essential ion channel and serine/threonine-protein kinase. Crucial for magnesium homeostasis. Has an important role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Isoforms of the type M6-kinase lack the ion channel region

Gene Wiki entry for TRPM6 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TRPM6 Gene

Genomics for TRPM6 Gene

Genomic Location for TRPM6 Gene

Start:
74,722,495 bp from pter
End:
74,888,094 bp from pter
Size:
165,600 bases
Orientation:
Minus strand

Genomic View for TRPM6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TRPM6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TRPM6 Gene

Regulatory Elements for TRPM6 Gene

Proteins for TRPM6 Gene

  • Protein details for TRPM6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BX84-TRPM6_HUMAN
    Recommended name:
    Transient receptor potential cation channel subfamily M member 6
    Protein Accession:
    Q9BX84
    Secondary Accessions:
    • Q6VPR8
    • Q6VPR9
    • Q6VPS0
    • Q6VPS1
    • Q6VPS2

    Protein attributes for TRPM6 Gene

    Size:
    2022 amino acids
    Molecular mass:
    231708 Da
    Quaternary structure:
    • Forms heterodimers with TRPM7. TRPM6 requires the presence of TRPM7 to be targeted to the cell membrane (in HEK 293 cells). Interacts (via kinase domain) with GNB2L1/RACK1.

    Alternative splice isoforms for TRPM6 Gene

neXtProt entry for TRPM6 Gene

Proteomics data for TRPM6 Gene at MOPED

Post-translational modifications for TRPM6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for TRPM6 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for TRPM6 Gene

Gene Families for TRPM6 Gene

HGNC:
  • TRP :Voltage-gated ion channels / Transient receptor potential cation channels
IUPHAR :

Protein Domains for TRPM6 Gene

UniProtKB/Swiss-Prot:

TRPM6_HUMAN
Domain:
  • Contains 1 alpha-type protein kinase domain.:
    • Q9BX84
Family:
  • In the C-terminal section; belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily.:
    • Q9BX84
  • In the N-terminal section; belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM6 sub-subfamily.:
    • Q9BX84
genes like me logo Genes that share domains with TRPM6: view

Function for TRPM6 Gene

Molecular function for TRPM6 Gene

UniProtKB/Swiss-Prot CatalyticActivity: ATP + a protein = ADP + a phosphoprotein
UniProtKB/Swiss-Prot Function: Essential ion channel and serine/threonine-protein kinase. Crucial for magnesium homeostasis. Has an important role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Isoforms of the type M6-kinase lack the ion channel region

Enzyme Numbers (IUBMB) for TRPM6 Gene

Gene Ontology (GO) - Molecular Function for TRPM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0005216 ion channel activity --
GO:0005261 cation channel activity --
GO:0005262 calcium channel activity IEA --
GO:0005515 protein binding IPI 18258429
genes like me logo Genes that share ontologies with TRPM6: view
genes like me logo Genes that share phenotypes with TRPM6: view

Animal Models for TRPM6 Gene

MGI Knock Outs for TRPM6:

miRNA for TRPM6 Gene

miRTarBase miRNAs that target TRPM6

No data available for Transcription Factor Targeting and HOMER Transcription for TRPM6 Gene

Localization for TRPM6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TRPM6 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TRPM6 Gene COMPARTMENTS Subcellular localization image for TRPM6 gene
Compartment Confidence
plasma membrane 3
cytosol 1
extracellular 1
nucleus 1

Gene Ontology (GO) - Cellular Components for TRPM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IEA --
GO:0031526 brush border membrane IEA --
genes like me logo Genes that share ontologies with TRPM6: view

Pathways for TRPM6 Gene

genes like me logo Genes that share pathways with TRPM6: view

Pathways by source for TRPM6 Gene

1 KEGG pathway for TRPM6 Gene

Gene Ontology (GO) - Biological Process for TRPM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006468 protein phosphorylation IEA --
GO:0006811 ion transport --
GO:0009636 response to toxic substance IDA 17575980
GO:0030001 metal ion transport --
GO:0034220 ion transmembrane transport TAS --
genes like me logo Genes that share ontologies with TRPM6: view

Compounds for TRPM6 Gene

(3) HMDB Compounds for TRPM6 Gene

Compound Synonyms Cas Number PubMed IDs
Adenosine triphosphate
  • 5'-(tetrahydrogen triphosphate) Adenosine
56-65-5
ADP
  • adenosindiphosphorsaeure
58-64-0
Magnesium
  • Magnesium
7439-95-4

(5) IUPHAR Ligand for TRPM6 Gene

Ligand Type Action Affinity Pubmed IDs
H+ (extracellular) Activator None 5.4
Ca2+ Antagonist Antagonist
Mg2+ Antagonist Antagonist
ruthenium red Channel blocker None
2-APB Channel blocker None

(4) Novoseek inferred chemical compound relationships for TRPM6 Gene

Compound -log(P) Hits PubMed IDs
magnesium 75 21
calcium 26.3 2
threonine 20.8 1
serine 5.28 1
genes like me logo Genes that share compounds with TRPM6: view

Transcripts for TRPM6 Gene

Unigene Clusters for TRPM6 Gene

Transient receptor potential cation channel, subfamily M, member 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for TRPM6 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20a · 20b ^ 21 ^
SP1: - - - - - - -
SP2: - - - - - - -
SP3: - - - - - -
SP4: - - - - -
SP5: - - - - - - - - - -
SP6: - - - - - - - - - - -
SP7: -
SP8:
SP9: - - - - - - - - - - - - - - - - -
SP10: -
SP11:
SP12:

ExUns: 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29 ^ 30a · 30b ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36 ^ 37 ^ 38 ^ 39 ^ 40 ^ 41 ^ 42 ^ 43 ^ 44a · 44b ·
SP1: -
SP2: - -
SP3: - -
SP4: - -
SP5: - - - - - - - - - - - - -
SP6: - - - - - - - - - - - - - - -
SP7: -
SP8: -
SP9: - - - - - - - - - - - - - - - - - - -
SP10:
SP11:
SP12:

Relevant External Links for TRPM6 Gene

GeneLoc Exon Structure for
TRPM6
ECgene alternative splicing isoforms for
TRPM6

Expression for TRPM6 Gene

mRNA expression in normal human tissues for TRPM6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TRPM6 Gene

This gene is overexpressed in Colon - Transverse (9.6), Whole Blood (6.6), and Brain - Spinal cord (cervical c-1) (4.6).

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for TRPM6 Gene

SOURCE GeneReport for Unigene cluster for TRPM6 Gene Hs.272225

mRNA Expression by UniProt/SwissProt for TRPM6 Gene

Q9BX84-TRPM6_HUMAN
Tissue specificity: Highly expressed in kidney and colon. Isoform TRPM6a and isoform TRPM6b, are coexpressed with TRPM7 in kidney, and testis, and are also found in several cell lines of lung origin. Isoform TRPM6c is detected only in testis and in NCI-H510A small cell lung carcinoma cells
genes like me logo Genes that share expressions with TRPM6: view

Orthologs for TRPM6 Gene

This gene was present in the common ancestor of animals.

Orthologs for TRPM6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TRPM6 36
  • 99.69 (n)
  • 99.7 (a)
TRPM6 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TRPM6 36
  • 87.12 (n)
  • 84.68 (a)
TRPM6 37
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TRPM6 36
  • 88.05 (n)
  • 86.08 (a)
TRPM6 37
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Trpm6 36
  • 81.71 (n)
  • 78.82 (a)
Trpm6 16
Trpm6 37
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TRPM6 37
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TRPM6 37
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Trpm6 36
  • 80.92 (n)
  • 77.73 (a)
chicken
(Gallus gallus)
Aves TRPM6 36
  • 70.37 (n)
  • 69 (a)
TRPM6 37
  • 66 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TRPM6 37
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trpm6 36
  • 66.82 (n)
  • 67.15 (a)
zebrafish
(Danio rerio)
Actinopterygii TRPM6 37
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG30078 38
  • 42 (a)
CG30079 38
  • 42 (a)
Species with no ortholog for TRPM6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TRPM6 Gene

ENSEMBL:
Gene Tree for TRPM6 (if available)
TreeFam:
Gene Tree for TRPM6 (if available)

Paralogs for TRPM6 Gene

Paralogs for TRPM6 Gene

Selected SIMAP similar genes for TRPM6 Gene using alignment to 7 proteins:

Pseudogenes.org Pseudogenes for TRPM6 Gene

genes like me logo Genes that share paralogs with TRPM6: view

Variants for TRPM6 Gene

Sequence variations from dbSNP and Humsavar for TRPM6 Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs472625 -- 74,752,995(-) GCTGG(A/G)ATTAC intron-variant
rs476673 -- 74,746,468(+) TGGAG(A/G)TGTTA intron-variant
rs484396 -- 74,748,860(-) tacac(A/G)agcgg intron-variant
rs487010 -- 74,748,630(-) ttctg(A/T)tttta intron-variant
rs500102 -- 74,743,829(+) TAGAT(C/T)TCAAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TRPM6 Gene

Variant ID Type Subtype PubMed ID
nsv831623 CNV Gain+Loss 17160897
nsv831624 CNV Gain+Loss 17160897
dgv8252n71 CNV Gain 21882294
nsv517373 CNV Loss 19592680

Relevant External Links for TRPM6 Gene

HapMap Linkage Disequilibrium report
TRPM6
Human Gene Mutation Database (HGMD)
TRPM6

Disorders for TRPM6 Gene

(1) OMIM Diseases for TRPM6 Gene (607009)

UniProtKB/Swiss-Prot

TRPM6_HUMAN
  • Hypomagnesemia 1 (HOMG1) [MIM:602014]: A disorder due to a primary defect in intestinal magnesium absorption. It is characterized by low levels of serum magnesium alongside with a normal renal magnesium secretion, secondary hypocalcemia and calcinocis. Affected individuals show neurologic symptoms of hypomagnesemic hypocalcemia, including seizures and muscle spasms, during infancy. Hypocalcemia is secondary to parathyroid failure resulting from magnesium deficiency. Untreated, the disorder may be fatal or may result in neurological damage. {ECO:0000269 PubMed:12032568, ECO:0000269 PubMed:23942199}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for TRPM6 Gene

(3) Novoseek inferred disease relationships for TRPM6 Gene

Disease -log(P) Hits PubMed IDs
hypomagnesemia 90.3 18
hypocalcemia 81.8 15
genetic disorder 27.5 2

Relevant External Links for TRPM6

Genetic Association Database (GAD)
TRPM6
Human Genome Epidemiology (HuGE) Navigator
TRPM6
genes like me logo Genes that share disorders with TRPM6: view

Publications for TRPM6 Gene

  1. Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia. (PMID: 14976260) Chubanov V. … Gudermann T. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 23
  2. Functional characterization of homo- and heteromeric channel kinases TRPM6 and TRPM7. (PMID: 16636202) Li M. … Yue L. (J. Gen. Physiol. 2006) 3 23
  3. Essential role for TRPM6 in epithelial magnesium transport and body magnesium homeostasis. (PMID: 16075242) Chubanov V. … Schlingmann K.P. (Pflugers Arch. 2005) 3 23
  4. Transient receptor potential melastatin 6 and 7 channels, magnesium transport, and vascular biology: implications in hypertension. (PMID: 18192217) Touyz R.M. (Am. J. Physiol. Heart Circ. Physiol. 2008) 3 23
  5. Role of the alpha-kinase domain in transient receptor potential melastatin 6 channel and regulation by intracellular ATP. (PMID: 18490453) ThAcbault S. … Hoenderop J.G. (J. Biol. Chem. 2008) 3 23

Products for TRPM6 Gene

Sources for TRPM6 Gene

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