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 second... See more...

Aliases for TRPM6 Gene

Aliases for TRPM6 Gene

  • Transient Receptor Potential Cation Channel Subfamily M Member 6 2 3 4 5
  • CHAK2 2 3 4
  • Melastatin-Related TRP Cation Channel 6 3 4
  • Channel Kinase 2 3 4
  • EC 2.7.11.1 4 50
  • Transient Receptor Potential Cation Channel, Subfamily M, Member 6 2
  • Hypomagnesemia, Secondary Hypocalcemia 2
  • FLJ22628 2
  • HOMG1 3
  • TRPM6 5
  • 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 TRP channels. 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 Summary 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 CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TRPM6 Gene

Genomics for TRPM6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TRPM6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH09J074886 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 268.6 +0.9 893 2.4 ZNF600 ZMYM3 CEBPA POLR2A ZIC2 CHD4 ETS1 FEZF1 ZNF341 SIN3A TRPM6 HSALNG0071954 RORB
GH09J074951 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10.6 -64.7 -64654 3.5 MYC ZNF580 ZNF592 ZMYM3 KLF9 POLR2A NFIC ZIC2 YY1 MXD4 C9orf40 CARNMT1-AS1 HSALNG0071960 NMRK1 OSTF1 CARNMT1 TRPM6 RNU6-445P
GH09J074860 Enhancer 0.7 Ensembl ENCODE 29.1 +23.8 23793 9 BCL11A MAFF EBF1 BATF MAFK JUNB PKNOX1 ARID3A ETV6 TRPM6 RF00017-7042 RF00026-1078 RNU6-445P RORB
GH09J074855 Enhancer 0.7 Ensembl ENCODE 28.7 +30.4 30414 3.8 ZNF316 NFE2 NFE2L2 MAFG MAFK MAFF ATF2 ATF7 EMSY RNU6-445P RF00026-1078 TRPM6 CARNMT1 RF00017-7042 RORB
GH09J075100 Enhancer 1 Ensembl ENCODE dbSUPER 10.1 -212.6 -212607 3 ZNF217 MBD2 ELF1 CTBP1 SIN3A TCF7L2 SMARCE1 FOXA1 DPF2 RAD51 FJ601678-152 NMRK1 CARNMT1 RNU6-1228P TRPM6 OSTF1 PCSK5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TRPM6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TRPM6

Top Transcription factor binding sites by QIAGEN in the TRPM6 gene promoter:
  • AML1a
  • AP-1
  • Bach2
  • c-Fos
  • c-Jun
  • Evi-1
  • FOXJ2
  • FOXJ2 (long isoform)
  • Nkx2-2
  • ZID

Genomic Locations for TRPM6 Gene

Latest Assembly
chr9:74,722,495-74,888,094
(GRCh38/hg38)
Size:
165,600 bases
Orientation:
Minus strand

Previous Assembly
chr9:77,337,411-77,502,837
(GRCh37/hg19 by Entrez Gene)
Size:
165,427 bases
Orientation:
Minus strand

chr9:77,337,411-77,503,010
(GRCh37/hg19 by Ensembl)
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.
    Miscellaneous:
    • [Isoform M6-kinase 1]: Lacks the ion channel region.
    • [Isoform M6-kinase 2]: Lacks the ion channel region.
    • [Isoform M6-kinase 3]: Lacks the ion channel region.

    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

Other Protein References for TRPM6 Gene

Antibodies for research

  • Abcam antibodies for TRPM6
  • Boster Bio Antibodies for TRPM6
  • Santa Cruz Biotechnology (SCBT) Antibodies for TRPM6

Domains & Families for TRPM6 Gene

Gene Families for TRPM6 Gene

HGNC:
IUPHAR :
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

GenScript: Design optimal peptide antigens:
  • cDNA FLJ25019 fis, clone CBL01642 (Q96LV9_HUMAN)
  • Melastatin-related TRP cation channel 6 (TRPM6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BX84

UniProtKB/Swiss-Prot:

TRPM6_HUMAN :
  • In the C-terminal section; belongs to the protein kinase superfamily. Alpha-type protein kinase family. ALPK subfamily.
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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-seryl-[protein] = ADP + H(+) + O-phospho-L-seryl-[protein]; Xref=Rhea:RHEA:17989, Rhea:RHEA-COMP:9863, Rhea:RHEA-COMP:11604, ChEBI:CHEBI:15378, ChEBI:CHEBI:29999, ChEBI:CHEBI:30616, ChEBI:CHEBI:83421, ChEBI:CHEBI:456216; EC=2.7.11.1;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP + L-threonyl-[protein] = ADP + H(+) + O-phospho-L-threonyl-[protein]; Xref=Rhea:RHEA:46608, Rhea:RHEA-COMP:11060, Rhea:RHEA-COMP:11605, ChEBI:CHEBI:15378, ChEBI:CHEBI:30013, ChEBI:CHEBI:30616, ChEBI:CHEBI:61977, ChEBI:CHEBI:456216; EC=2.7.11.1;.

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:0000166 nucleotide binding IEA --
GO:0004674 protein serine/threonine kinase activity IEA --
GO:0005216 ion channel activity IEA --
GO:0005261 cation channel activity IBA 21873635
GO:0005262 calcium channel activity IEA --
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:
  • Trpm6 Trpm6<tm1.1Rws>
  • Trpm6 Trpm6<tm1b(KOMP)Wtsi>

Animal Models for research

  • Taconic Biosciences Mouse Models for TRPM6

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRPM6

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 2
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TRPM6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0016324 apical plasma membrane IBA 21873635
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
  • Intracellular Calcium Signaling

SIGNOR curated interactions for TRPM6 Gene

Inactivates:
Is inactivated by:

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 IEA --
GO:0006812 cation transport IEA --
GO:0006816 calcium ion transport IEA --
GO:0009636 response to toxic substance IDA 17575980
genes like me logo Genes that share ontologies with TRPM6: view

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, Experimental, Investigational Pharma Transporter 0
Magnesium carbonate Approved, Investigational Pharma Transporter, substrate 0
ATP Investigational Nutra 0
2-APB Pharma Activator, Agonist, Potentiation IP3 receptor antagonist. Also TRP channel modulator 0
Ca<sup>2+</sup> 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, Potentiation
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
genes like me logo Genes that share compounds with TRPM6: view

Transcripts for TRPM6 Gene

mRNA/cDNA for TRPM6 Gene

3 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TRPM6

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

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, MaxQB, and MOPED for TRPM6 Gene



Protein tissue co-expression partners for TRPM6 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for TRPM6 Gene

  • Kidney(4.6)
  • Intestine(4.5)
  • Skin(2.2)
  • Pancreas(2.1)
  • Blood(2.1)
  • Stomach(2.1)
  • Muscle(2)
  • Nervous system(2)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • nervous
  • respiratory
  • skeletal muscle
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • eye
  • head
  • larynx
  • neck
  • parathyroid
  • thyroid
Thorax:
  • heart
Abdomen:
  • kidney
  • pancreas
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with TRPM6: view

Primer products for research

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 29 30
  • 99.69 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia TRPM6 29 30
  • 88.05 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia TRPM6 29 30
  • 87.12 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Trpm6 29 16 30
  • 81.71 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Trpm6 29
  • 80.92 (n)
Oppossum
(Monodelphis domestica)
Mammalia TRPM6 30
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia TRPM6 30
  • 71 (a)
OneToOne
Chicken
(Gallus gallus)
Aves TRPM6 29 30
  • 70.37 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia TRPM6 30
  • 64 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia trpm6 29
  • 66.82 (n)
Zebrafish
(Danio rerio)
Actinopterygii TRPM6 30
  • 54 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG30078 31
  • 42 (a)
CG30079 31
  • 42 (a)
Species where no ortholog for TRPM6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for TRPM6: view image
Alliance of Genome Resources:
Additional Orthologs for TRPM6

Paralogs for TRPM6 Gene

Paralogs for TRPM6 Gene

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

  • TRPM6_HUMAN
  • F8W9E6_HUMAN
  • F8WAD9_HUMAN
  • G8JLG6_HUMAN
  • G8JLG7_HUMAN
  • Q5VYG5_HUMAN
  • Q96LV9_HUMAN
genes like me logo Genes that share paralogs with TRPM6: view

Variants for TRPM6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TRPM6 Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
1030275 Pathogenic: Hypomagnesemia 1, intestinal 74,827,777(-) C/T
NM_017662.5(TRPM6):c.841+1G>A
SPLICE_DONOR
1033855 Uncertain Significance: Hypomagnesemia 1, intestinal 74,820,337(-) T/G
NM_017662.5(TRPM6):c.1101A>C (p.Gln367His)
MISSENSE
872020 Uncertain Significance: not provided 74,724,752(-) A/G
NM_017662.5(TRPM6):c.5936-6T>C
INTRON
872021 Uncertain Significance: not provided 74,738,552(-) C/G
NM_017662.5(TRPM6):c.5631G>C (p.Lys1877Asn)
MISSENSE
912869 Likely Benign: Hypomagnesemia 1, intestinal 74,722,829(-) T/C
NM_017662.5(TRPM6):c.*1784A>G
THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TRPM6 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
TRPM6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TRPM6
Leiden Open Variation Database (LOVD)
TRPM6

SNP Genotyping and Copy Number Assays for research

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

Disorders for TRPM6 Gene

MalaCards: The human disease database

(19) MalaCards diseases for TRPM6 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

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

Additional Disease Information for TRPM6

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  2. Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. (PMID: 12032568) Schlingmann KP … Konrad M (Nature genetics 2002) 3 4 72
  3. Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. (PMID: 12032570) Walder RY … Sheffield VC (Nature genetics 2002) 2 3 72
  4. 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
  5. 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 40

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