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Aliases for TRPM6 Gene

Aliases for TRPM6 Gene

  • Transient Receptor Potential Cation Channel Subfamily M Member 6 2 3 5
  • Melastatin-Related TRP Cation Channel 6 3 4
  • Channel Kinase 2 3 4
  • EC 2.7.11.1 4 61
  • CHAK2 3 4
  • Transient Receptor Potential Cation Channel, Subfamily M, Member 6 2
  • Hypomagnesemia, Secondary Hypocalcemia 2
  • HOMG1 3
  • HMGX 3
  • HOMG 3
  • HSH 3

External Ids for TRPM6 Gene

Previous HGNC Symbols for TRPM6 Gene

  • HOMG
  • HSH

Previous GeneCards Identifiers for TRPM6 Gene

  • GC09M068381
  • GC09M069193
  • GC09M070907
  • GC09M072794
  • GC09M074566
  • GC09M076527
  • GC09M077337
  • GC09M047159

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. Among its related pathways are Ion channel transport and CREB Pathway. GO annotations related to this gene include transferase activity, transferring phosphorus-containing groups and ion channel activity. An important paralog of this gene is TRPM7.

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

Regulatory Elements for TRPM6 Gene

Enhancers for TRPM6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F074886 0.9 ENCODE 18.7 +0.9 875 2.2 ELF3 ARID4B FEZF1 ETS1 GLIS2 SCRT2 EGR2 THAP11 ZNF263 CEBPB TRPM6 RNU6-445P
GH09F074855 0.6 ENCODE 27.4 +30.5 30484 3.7 ZNF316 MAFG NFE2L1 NFE2 EMSY MAFK NFE2L2 TRPM6 CARNMT1 GC09P074858 PIR35700
GH09F074951 1.1 ENCODE 10.6 -64.7 -64749 3.3 ATF1 CREB3L1 MLX ARID4B SIN3A GLI4 DMAP1 ZNF48 ZNF2 ZNF121 NMRK1 OSTF1 C9orf41-AS1 CARNMT1 TRPM6 RNU6-445P C9orf40 LOC100133316
GH09F074860 0.7 Ensembl ENCODE 16.4 +26.4 26420 1.5 JUNB ETV6 CREM TRPM6 RNU6-445P
GH09F074865 0.6 Ensembl 18.2 +22.7 22694 0.4 PKNOX1 IKZF1 JUNB ETV6 EBF1 SPI1 TRPM6 RNU6-445P
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TRPM6 on UCSC Golden Path with GeneCards custom track

Promoters for TRPM6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001305898 893 1600 ELF3 ARID4B FEZF1 RAD21 ETS1 GLIS2 SCRT2 EGR2 ZNF263 CEBPB

Genomic Location for TRPM6 Gene

Chromosome:
9
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

Genes around TRPM6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TRPM6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TRPM6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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 RACK1.

    Alternative splice isoforms for TRPM6 Gene

neXtProt entry for TRPM6 Gene

Selected DME Specific Peptides for TRPM6 Gene

Q9BX84:
  • NWSNSTCLKLAVS
  • EGGPNVIL
  • AGRLIYC
  • MELPKLVISVHGG
  • FLTIPRLEELYNTKQGPTN
  • PRFLEVFL
  • KKLHDFEEQCVE
  • TVLHLCLREIQQQRAAQKL
  • WSVEKHT
  • TVYRLEESSP
  • MVFGPANLGEDAI
  • LTPFLQAVYLFVQYIIMVNLLIA
  • PVVVCEGTGRAADLLA
  • SMSSWSQ
  • ERNNLMRLSQ
  • KHVGDALK
  • PWGVIEN
  • MLAFSHWTYEYTRGELLVLDLQGVGENLTDPSVIK
  • MTGEFRKYNNNNGDEI
  • LPDLKRNDY
  • ITLIDIGLV
  • GHLQDLSALTVDTLK

Post-translational modifications for TRPM6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for TRPM6 Gene

Gene Families for TRPM6 Gene

Protein Domains for TRPM6 Gene

Suggested Antigen Peptide Sequences for TRPM6 Gene

Graphical View of Domain Structure for InterPro Entry

Q9BX84

UniProtKB/Swiss-Prot:

TRPM6_HUMAN :
  • Contains 1 alpha-type protein kinase domain.
  • In the C-terminal section; belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily.
Domain:
  • Contains 1 alpha-type protein kinase domain.
Family:
  • In the C-terminal section; belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily.
  • In the N-terminal section; belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM6 sub-subfamily.
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 IEA --
GO:0005261 cation channel activity IEA --
GO:0005262 calcium channel activity TAS --
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

Human Phenotype Ontology for TRPM6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for TRPM6 Gene

MGI Knock Outs for TRPM6:

Animal Model Products

  • Taconic Biosciences Mouse Models for TRPM6

Inhibitory RNA Products

Flow Cytometry Products

No data available for Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TRPM6 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytosol 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 IEA --
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 & Interactions for TRPM6 Gene

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

Pathways by source for TRPM6 Gene

1 Qiagen 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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006812 cation transport IEA --
GO:0006816 calcium ion transport IEA --
genes like me logo Genes that share ontologies with TRPM6: view

No data available for SIGNOR curated interactions for TRPM6 Gene

Drugs & Compounds for TRPM6 Gene

(10) Drugs for TRPM6 Gene - From: DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
2-APB Pharma Antagonist, Pore Blocker IP3 receptor antagonist. Also TRP channel modulator 0
Ca<sup>2+</sup> Pharma Activator 0
Mg<sup>2+</sup> Pharma Channel blocker 0
ruthenium red Pharma Channel blocker 0

(2) Additional Compounds for TRPM6 Gene - From: IUPHAR and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
H<sup>+</sup> (extracellular)
Activator
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
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:

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE 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 (x9.6), Whole Blood (x6.6), and Brain - Spinal cord (cervical c-1) (x4.6).

Protein differential expression in normal tissues from HIPED for TRPM6 Gene

This gene is overexpressed in Testis (32.4) and Urine (28.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TRPM6 Gene



Protein tissue co-expression partners for TRPM6 Gene

NURSA nuclear receptor signaling pathways regulating expression of TRPM6 Gene:

TRPM6

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 expression patterns with TRPM6: view

Primer Products

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 34 35
  • 99.69 (n)
dog
(Canis familiaris)
Mammalia TRPM6 34 35
  • 88.05 (n)
cow
(Bos Taurus)
Mammalia TRPM6 34 35
  • 87.12 (n)
mouse
(Mus musculus)
Mammalia Trpm6 34 16 35
  • 81.71 (n)
rat
(Rattus norvegicus)
Mammalia Trpm6 34
  • 80.92 (n)
oppossum
(Monodelphis domestica)
Mammalia TRPM6 35
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TRPM6 35
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves TRPM6 34 35
  • 70.37 (n)
lizard
(Anolis carolinensis)
Reptilia TRPM6 35
  • 64 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia trpm6 34
  • 66.82 (n)
zebrafish
(Danio rerio)
Actinopterygii TRPM6 35
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG30078 36
  • 42 (a)
CG30079 36
  • 42 (a)
Species where no ortholog for TRPM6 was found in the sources mined by GeneCards:
  • 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

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

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
rs121912625 Hypomagnesemia 1 (HOMG1) [MIM:602014], Pathogenic 74,840,146(-) GATCT(C/T)AGTCC nc-transcript-variant, reference, missense
VAR_042387 A lung adenocarcinoma sample
VAR_042389 A lung large cell carcinoma sample
VAR_071480 Hypomagnesemia 1 (HOMG1) [MIM:602014]
VAR_071481 Hypomagnesemia 1 (HOMG1) [MIM:602014]

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

Variant ID Type Subtype PubMed ID
nsv982306 CNV duplication 23825009
nsv831624 CNV gain+loss 17160897
nsv831623 CNV gain+loss 17160897
nsv517373 CNV loss 19592680
nsv1049824 CNV loss 25217958
esv3620710 CNV loss 21293372

Variation tolerance for TRPM6 Gene

Residual Variation Intolerance Score: 2.43% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.28; 90.63% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TRPM6 Gene

Human Gene Mutation Database (HGMD)
TRPM6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRPM6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TRPM6 Gene

Disorders for TRPM6 Gene

MalaCards: The human disease database

(5) MalaCards diseases for TRPM6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
hypomagnesemia 1, intestinal
  • hypomagnesemia with secondary hypocalcemia
primary hypomagnesemia
  • familial hypomagnesemia with hypercalciuria and nephrocalcinosis
hypocalcemia, autosomal dominant
  • hypocalcemia, autosomal dominant, with bartter syndrome
sesame syndrome
  • seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance
enamel caries
  • dental caries limited to enamel
- elite association - COSMIC cancer census association via MalaCards
Search TRPM6 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for TRPM6

Genetic Association Database (GAD)
TRPM6
Human Genome Epidemiology (HuGE) Navigator
TRPM6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TRPM6
genes like me logo Genes that share disorders with TRPM6: view

No data available for Genatlas for TRPM6 Gene

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 22 64
  2. New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia. (PMID: 23942199) Lainez S. … Hoenderop J.G. (Eur. J. Hum. Genet. 2013) 3 4 64
  3. Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. (PMID: 20700443) Meyer T.E. … . (PLoS Genet. 2010) 3 46 64
  4. Gene variation of the transient receptor potential cation channel, subfamily M, members 6 (TRPM6) and 7A (TRPM7), and type 2 diabetes mellitus: a case-control study. (PMID: 20875900) Romero J.R. … Zee R.Y. (Transl Res 2010) 3 46 64
  5. Common genetic variants of the ion channel transient receptor potential membrane melastatin 6 and 7 (TRPM6 and TRPM7), magnesium intake, and risk of type 2 diabetes in women. (PMID: 19149903) Song Y. … Liu S. (BMC Med. Genet. 2009) 3 46 64

Products for TRPM6 Gene

Sources for TRPM6 Gene

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