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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 4 56
  • 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 Mineral absorption and CREB Pathway. Gene Ontology (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

Additional gene information for TRPM6 Gene

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

Genomics for TRPM6 Gene

GeneHancer (GH) Regulatory Elements for TRPM6 Gene

Promoters and enhancers for TRPM6 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09I074886 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 568.8 +0.9 874 2.2 ELF3 FOXA2 ARID4B MZF1 SIN3A FEZF1 ETS1 ZNF335 GLIS2 SCRT2 TRPM6 RNU6-445P
GH09I074951 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 10.6 -64.7 -64749 3.3 MLX ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 E2F8 ZNF143 C9orf40 C9orf41-AS1 NMRK1 OSTF1 CARNMT1 TRPM6 RNU6-445P LOC100133316
GH09I074855 Enhancer 0.6 ENCODE 27.4 +30.5 30484 3.7 MAFG BACH1 ATF2 ZNF316 NFE2 ATF7 EMSY MAFK NFE2L2 GC09P074858 RNU6-445P TRPM6 CARNMT1 PIR35700
GH09I075100 Enhancer 1.1 Ensembl ENCODE dbSUPER 10.1 -213.2 -213159 1.2 NCOA3 ESRRA NEUROD1 SIN3A NFXL1 YBX1 ZKSCAN1 CTBP1 GATA3 RCOR1 CARNMT1 NMRK1 TRPM6 RNU6-1228P OSTF1 LOC105376090
GH09I075106 Enhancer 1 Ensembl ENCODE dbSUPER 9.5 -220.1 -220117 3.1 SMAD1 NFIB JUN NR2F2 GABPA NFIC GATA3 GABPB1 CREB1 CREM NMRK1 CARNMT1 RNU6-445P TRPM6 OSTF1 LOC105376090
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TRPM6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TRPM6 gene promoter:

Genomic Locations for TRPM6 Gene

Genomic Locations for TRPM6 Gene
165,600 bases
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:
    Recommended name:
    Transient receptor potential cation channel subfamily M member 6
    Protein Accession:
    Secondary Accessions:
    • Q6VPR8
    • Q6VPR9
    • Q6VPS0
    • Q6VPS1
    • Q6VPS2

    Protein attributes for TRPM6 Gene

    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


Post-translational modifications for TRPM6 Gene

No Post-translational modifications

Domains & Families for TRPM6 Gene

Gene Families for TRPM6 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters
  • Voltage-gated ion channels

Suggested Antigen Peptide Sequences for TRPM6 Gene

Graphical View of Domain Structure for InterPro Entry



  • In the C-terminal section; belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily.
  • 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

Phenotypes From GWAS Catalog 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:

Clone 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

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TRPM6 Gene

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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Magnesium Approved Nutra 0
Magnesium carbonate Approved, Investigational Pharma Transporter, substrate 0
ATP Investigational Nutra Agonist 0
2-APB Pharma Antagonist, Pore Blocker IP3 receptor antagonist. Also TRP channel modulator 0
Ca<sup>2+</sup> Pharma Activator 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
H<sup>+</sup> (extracellular)
  • 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:

Clone 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: -
SP9: - - - - - - - - - - - - - - - - -
SP10: -

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: - - - - - - - - - - - - - - - - - - -

Relevant External Links for TRPM6 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for TRPM6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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:


SOURCE GeneReport for Unigene cluster for TRPM6 Gene:


mRNA Expression by UniProt/SwissProt for TRPM6 Gene:

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.

Evidence on tissue expression from TISSUES for TRPM6 Gene

  • Kidney(4.5)
  • Intestine(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TRPM6 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • endocrine
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Head and neck:
  • brain
  • ear
  • eye
  • head
  • larynx
  • neck
  • parathyroid
  • thyroid
  • heart
  • kidney
  • pancreas
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns 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
(Pan troglodytes)
Mammalia TRPM6 33 34
  • 99.69 (n)
(Canis familiaris)
Mammalia TRPM6 33 34
  • 88.05 (n)
(Bos Taurus)
Mammalia TRPM6 33 34
  • 87.12 (n)
(Mus musculus)
Mammalia Trpm6 33 16 34
  • 81.71 (n)
(Rattus norvegicus)
Mammalia Trpm6 33
  • 80.92 (n)
(Monodelphis domestica)
Mammalia TRPM6 34
  • 73 (a)
(Ornithorhynchus anatinus)
Mammalia TRPM6 34
  • 71 (a)
(Gallus gallus)
Aves TRPM6 33 34
  • 70.37 (n)
(Anolis carolinensis)
Reptilia TRPM6 34
  • 64 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia trpm6 33
  • 66.82 (n)
(Danio rerio)
Actinopterygii TRPM6 34
  • 54 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG30078 35
  • 42 (a)
CG30079 35
  • 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

Gene Tree for TRPM6 (if available)
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 Variation AA Info Type
rs1057515626 uncertain-significance, Hypomagnesemia 1, intestinal 74,722,596(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1057515627 uncertain-significance, Hypomagnesemia 1, intestinal 74,722,616(-) G/C 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1057515628 uncertain-significance, Hypomagnesemia 1, intestinal 74,722,699(-) T/G 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1057515629 uncertain-significance, Hypomagnesemia 1, intestinal 74,723,124(-) C/T 3_prime_UTR_variant, genic_downstream_transcript_variant
rs1057515630 uncertain-significance, Hypomagnesemia 1, intestinal 74,723,770(-) C/T 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant

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

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

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)

Additional Variant Information for TRPM6 Gene

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

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: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search TRPM6 in MalaCards View complete list of genes associated with diseases


  • 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:14976260, ECO:0000269 PubMed:23942199}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TRPM6

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 22 58
  2. New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia. (PMID: 23942199) Lainez S … Hoenderop JG (European journal of human genetics : EJHG 2014) 3 4 58
  3. Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. (PMID: 20700443) Meyer TE … Meta Analysis of Glucose and Insulin Related Traits Consortium (PLoS genetics 2010) 3 44 58
  4. Gene variation of the transient receptor potential cation channel, subfamily M, members 6 (TRPM6) and 7 (TRPM7), and type 2 diabetes mellitus: a case-control study. (PMID: 20875900) Romero JR … Zee RY (Translational research : the journal of laboratory and clinical medicine 2010) 3 44 58
  5. EGF increases TRPM6 activity and surface expression. (PMID: 19073827) Thebault S … Bindels RJ (Journal of the American Society of Nephrology : JASN 2009) 3 22 58

Products for TRPM6 Gene

Sources for TRPM6 Gene

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