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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

TRPM6 Gene

protein-coding GIFtS: 61
GCID: GC09M077337

transient receptor potential cation channel, subfamily M,...

(Previous names: hypomagnesemia, secondary hypocalcemia )
(Previous symbols: HOMG, HSH)

Explore 12 diseases affiliated with
TRPM6 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Transient Receptor Potential Cation Channel, Subfamily M, Member 6¹ ²		EC 2.7.11.1³ ⁸
CHAK2¹ ² ³ ⁵		FLJ22628¹
HOMG¹ ²		Hypomagnesemia, Secondary Hypocalcemia¹
HSH¹ ²		HMGX²
Channel Kinase 2² ³		HOMG1²
Melastatin-Related TRP Cation Channel 6² ³		Transient Receptor Potential Cation Channel Subfamily M Member 6²

External Ids:	HGNC: 17995¹	Entrez Gene: 140803²	Ensembl: ENSG00000119121⁷	OMIM: 607009⁵	UniProtKB: Q9BX84³

Export aliases for TRPM6 gene to outside databases

Previous GC identifers: GC09M068381 GC09M069193 GC09M070907 GC09M072794 GC09M074566 GC09M076527 GC09M047159

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TRPM6:

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)

UniProtKB/Swiss-Prot: TRPM6_HUMAN, Q9BX84

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

Gene Wiki entry for TRPM6

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000009.11 NC_018920.1 NT_008470.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the TRPM6 gene promoter:
c-Fos AP-1 AML1a Nkx2-2 Bach2 Evi-1 FOXJ2 (long isoform) ZID FOXJ2 c-Jun
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: TRPM6 promoter sequence

Search SABiosciences Chromatin IP Primers for TRPM6

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TRPM6

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q21.13 Ensembl cytogenetic band: 9q21.13 HGNC cytogenetic band: 9q21.13

TRPM6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TRPM6 gene location

GeneLoc information about chromosome 9 GeneLoc Exon Structure

GeneLoc location for GC09M077337: view genomic region (about GC identifiers)

Start:	77,337,411 bp from pter	End:	77,503,010 bp from pter
Size:	165,600 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: TRPM6_HUMAN, Q9BX84 (See protein sequence)

Recommended Name: Transient receptor potential cation channel subfamily M member 6

Size: 2022 amino acids; 231708 Da

Subunit: 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

Subcellular location: Membrane; Multi-pass membrane protein

Secondary accessions: Q6VPR8 Q6VPR9 Q6VPS0 Q6VPS1 Q6VPS2

Alternative splicing: 7 isoforms: Q9BX84-1 Q9BX84-2 Q9BX84-3 Q9BX84-4 Q9BX84-5 Q9BX84-6 Q9BX84-7 (Lacks the ion channel region)

Explore the universe of human proteins at neXtProt for TRPM6: NX_Q9BX84

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BX84

4/22 DME Specific Peptides for TRPM6 (Q9BX84) (see all 22)

WSVEKHT

PWGVIEN

AGRLIYC

SMSSWSQ

TRPM6 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001170781.1 NP_001170782.1 NP_060132.3

ENSEMBL proteins:

ENSP00000354006 ENSP00000309693 ENSP00000351942 ENSP00000407341 ENSP00000366068

ENSP00000366067 ENSP00000396672 ENSP00000354962 ENSP00000366060

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	Uscn Proteins for TRPM6

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0016021	integral to membrane	IEA	--
GO:0016324	apical plasma membrane	IEA	--
GO:0031526	brush border membrane	IEA	--

TRPM6 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for TRPM6

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

TRPM6 for domains About GeneDecksing

3 InterPro domains/families:

IPR011009 Kinase-like_dom

IPR005821 Ion_trans_dom

IPR004166 MHCK_EF2_kinase

Graphical View of Domain Structure for InterPro Entry Q9BX84

ProtoNet protein and cluster: Q9BX84

UniProtKB/Swiss-Prot: TRPM6_HUMAN, Q9BX84

Similarity: In the C-terminal section; belongs to the protein kinase superfamily. Alpha-type protein kinase family.

ALPK subfamily

Similarity: In the N-terminal section; belongs to the transient receptor (TC 1.A.4) family. LTrpC subfamily. TRPM6

sub-subfamily

Similarity: Contains 1 alpha-type protein kinase domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: TRPM6_HUMAN, Q9BX84

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

Catalytic activity: ATP + a protein = ADP + a phosphoprotein

Enzyme Number (IUBMB): EC 2.7.11.1¹ ²

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		hsa-miR-498 hsa-miR-1226 hsa-miR-539 hsa-let-7d hsa-miR-202 hsa-let-7c hsa-miR-1297 hsa-miR-3605-5p

		SwitchGear 3'UTR luciferase reporter plasmid: TRPM6 3' UTR sequence

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRPM6

Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004674	protein serine/threonine kinase activity	IEA	--
GO:0004872	receptor activity	--	--
GO:0005216	ion channel activity	--	--
GO:0005261	cation channel activity	--	--
GO:0005262	calcium channel activity	IEA	--

TRPM6 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for TRPM6:

Decreased substrate adherent c

Animal Models:
Mouse knock-out Trpm6^tm1.1Rws for TRPM6
8 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Trpm6):

craniofacial	embryogenesis	growth/size	homeostasis/metabolism	mortality/aging
nervous system	reproductive system	skeleton

TRPM6 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Mineral absorption

Mineral absorption

1.00

CREB Pathway

Intracellular Calcium Signaling

0.50

Pathway sources
See GeneCards unified pathways
Show all pathways

1 Downloadable PowerPoint Slide of QIAGEN Pathway Central Maps for TRPM6

Intracellular Calcium Signaling

1 Kegg Pathway (Kegg details for TRPM6):

Mineral absorption

TRPM6 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for TRPM6

STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

5 Interacting proteins for TRPM6 (Q9BX84^{2, 3} ENSP00000354006⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
MYH10	P35580²^,³, ENSP00000269243⁴	MINT-6699529 I2D: score=1 STRING: ENSP00000269243
MYH14	Q7Z406²^,³, ENSP00000407879⁴	MINT-6699445 I2D: score=1 STRING: ENSP00000407879
MYH9	P35579²^,³, ENSP00000216181⁴	MINT-6699553 I2D: score=1 STRING: ENSP00000216181
TRPM7	Q96QT4³, ENSP00000320239⁴	I2D: score=1 STRING: ENSP00000320239
PRKAA1	Q13131³	I2D: score=1

About this table

Gene Ontology (GO): 2 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0009636	response to toxin	IDA	17575980
GO:0030001	metal ion transport	--	--

TRPM6 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

TRPM6 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for TRPM6

3 HMDB Compounds for TRPM6 About this table

Compound	Synonyms	CAS #	PubMed Ids
ADP	adenosindiphosphorsaeure (see all 8)	58-64-0	--
Adenosine triphosphate	5'-(tetrahydrogen triphosphate) Adenosine (see all 24)	56-65-5	--
Magnesium	Magnesium (see all 2)	7439-95-4	--

4 Novoseek chemical compound relationships for TRPM6 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
magnesium	75	40	19890837 (4), 16636202 (2), 14976260 (2), 18192217 (2) (see all 12)
calcium	26.3	2	17599911 (1), 16580611 (1)
threonine	20.8	1	17217065 (1)
serine	5.28	1	17217065 (1)

Search CenterWatch for drugs/clinical trials and news about TRPM6

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for TRPM6 gene (3 alternative transcripts):

NM_001177310.1 NM_001177311.1 NM_017662.4

Unigene Cluster for TRPM6:

Transient receptor potential cation channel, subfamily M, member 6

Hs.272225 [show with all ESTs]

Unigene Representative Sequence: NM_017662

10 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000360774(uc004ajl.1 uc010mpb.1 uc010mpc.1 uc010mpd.1)

ENST00000312449 ENST00000483186 ENST00000359047(uc004ajn.1) ENST00000451710

ENST00000376872 ENST00000376871(uc010mpe.1) ENST00000449912(uc004ajj.1 uc022bib.1)

ENST00000361255(uc004ajk.1) ENST00000376864

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		8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate TRPM6 (see all 25):
		hsa-miR-498 hsa-miR-1226 hsa-miR-539 hsa-let-7d hsa-miR-202 hsa-let-7c hsa-miR-1297 hsa-miR-3605-5p

		SwitchGear 3'UTR luciferase reporter plasmid: TRPM6 3' UTR sequence

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Additional cDNA sequence:

AF350881.2 AF448232.1 AK000094.1 AK026281.1 AK057748.1 AK225207.1 AY333282.1 AY333283.1

AY333284.1 AY333286.1 AY333287.1 AY333288.1

8 DOTS entries:

DT.102826835 DT.102826834 DT.100657746 DT.100662746 DT.95176357 DT.95076159 DT.121168357 DT.100762226

24/55 AceView cDNA sequences (see all 55):

CA420033 AY333283 AY333287 AY333285 AW772222 NM_017662 BF447669 CR618713

BI754451 AK026281 AY333284 AY333286 CB159778 AF350881 AY333282 AF448232

AY333288 AI272662 CD628395 BX281186 BX440183 BF115147 AI935605 BE465471

GeneLoc Exon Structure

5/12 Alternative Splicing Database (ASD) splice patterns (SP) for TRPM6 (see all 12) About this scheme

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:					-		-						-				-								-				-																-		-		-		-

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

ECgene alternative splicing isoforms for TRPM6

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

TRPM6 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACAATGAGCT

About this image

TRPM6 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

2 LifeMap In Vivo Development Anatomical Compartments/Cells

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Kidney

Ovary

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See TRPM6 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for TRPM6

SOURCE GeneReport for Unigene cluster: Hs.272225

UniProtKB/Swiss-Prot: TRPM6_HUMAN, Q9BX84

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

SABiosciences Expression via Pathway-Focused PCR Array including TRPM6:

Neuronal Ion Channels in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TRPM6

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for TRPM6 gene from 5/19 species (see all 19) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	TRPM6¹	transient receptor potential cation channel, subfamily more	71.16(n) 70.19(a)		100859603 XM_003643021.1 XP_003643069.1
lizard (Anolis carolinensis)	Reptilia	TRPM6⁶	--	63(a)	1 ↔ 1	2(46935244-47006140)
zebrafish (Danio rerio)	Actinopterygii	CABZ01089175.1⁶	--	53(a)	1 ↔ 1	5(26922394-26952880)
fruit fly (Drosophila melanogaster)	Insecta	CG30079³	--	42(a) (best of 2)		--
worm (Caenorhabditis elegans)	Secernentea	gtl-2⁶ gtl-1⁶ (see all 4)	Gon-Two Like (TRP subfamily) family member (gtl-2)... Gon-Two Like (TRP subfamily) family member (gtl-1)... (see all 4)	28(a) 24(a) (see all 4)	possible ortholog possible ortholog (see all 4)	IV(11273461-11281902) IV(11248880-11259443)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for TRPM6 gene

TRPM2² TRPM5² TRPM8² TRPM7² TRPM1² TRPM4² TRPM3²

7 SIMAP similar genes for TRPM6 using alignment to 7 protein entries: TRPM6_HUMAN (see all proteins):

TRPM3 MLSN2 TRPM7 TRPM1 TRPM8 TRPM2

TRPM4

TRPM6 for paralogs About GeneDecksing

1 Pseudogenes.org Pseudogene for TRPM6
PGOHUM00000245817

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 9 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs76228449^1,2		--	47159416(+)	`CTGAAT/GTTGAC`	3	--	ds500¹		1		NA	120
rs56383602^1,2	C	--	47159841(+)	`ACCAAC/TGAACT`	3	--	ut3¹		0	--	--	--	--
rs113586292^1,2		--	47160983(+)	`GGAAGG/ACTGAG`	3	--	ut3¹		1		CSA	2
rs56335437^1,2	C	--	47161599(+)	`AGTTCC/TAAGTG`	3	--	ut3¹		0	--	--	--	--
rs11144075^1,2	C,F,H,	--	47161656(+)	`TCATCC/TAAGCA`	3	--	ut3¹		11		NS EA NA	1482
rs13300509^1,2	H	--	47161765(+)	`AGAAGG/TAGATG`	3	--	ut3¹		4		NS EA	420
rs78698976^1,2		--	47161821(+)	`ATCACG/ATTGAT`	3	--	ut3¹		1		NA	120
rs12001069^1,2	C,F,H	--	47162142(+)	`CTCAGA/CCCATA`	3	--	int¹		7		NS EA NA	394
rs75705300^1,2	F,	--	47162382(+)	`AGGTCA/GGCCAA`	3	--	int¹		1		WA	118
rs74884224^1,2		--	47163119(+)	`TCTTTG/TTTTAT`	3	--	int¹		1		NA	2

HapMap Linkage Disequilibrium report for TRPM6 (77337411 - 77503010 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for TRPM6
1 CNV: 4643
1 Indel: 52863
Human Gene Mutation Database (HGMD): TRPM6

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

TRPM6 for disorders           About GeneDecksing

OMIM gene information: 607009
OMIM disorders: 602014
UniProtKB/Swiss-Prot: TRPM6_HUMAN, Q9BX84

Defects in TRPM6 are the cause of hypomagnesemia type 1 (HOMG1) [MIM:602014]; also known as hypomagnesemia

with secondary hypocalcemia (HSH). HOMG1 is 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

12 diseases for TRPM6: About MalaCards

hypomagnesemia with secondary hypocalcemia hypocalcemia hypomagnesemia enamel caries

type 2 diabetes mellitus diabetes mellitus nephrocalcinosis kidney disease

cholera lung carcinoma hypertension carcinoma

1 disease from the University of Copenhagen DISEASES database for TRPM6:

Nephrocalcinosis

3 Novoseek disease relationships for TRPM6 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hypomagnesemia	90.3	20	17197439 (4), 18562569 (3), 18759094 (2), 19073827 (1) (see all 12)
hypocalcemia	81.8	17	17197439 (4), 18759094 (2), 18562569 (1), 18548273 (1) (see all 11)
genetic disorder	27.5	2	17217065 (1), 17536484 (1)

Human Genome Epidemiology (HuGE) Navigator: TRPM6 (4 documents)

Export disorders for TRPM6 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for TRPM6 gene, integrated from 9 sources (see all 56):
(articles sorted by number of sources associating them with TRPM6)

Utopia: connect your pdf to the dynamic
world of online information

Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia. (PubMed id 14976260)^{1, 2, 9} Chubanov V.... Gudermann T. (2004)
RACK1 inhibits TRPM6 activity via phosphorylation of the fused alpha-kinase domain. (PubMed id 18258429)^{1, 2} Cao G....Hoenderop J.G. (2008)
International Union of Pharmacology. XLIX. Nomenclature and structure-function relationships of transient receptor potential channels. (PubMed id 16382100)^{1, 3} Clapham D.E....Schultz G. (2005)
DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)^{1, 2} Humphray S.J.... Dunham I. (2004)
Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. (PubMed id 12032568)^{1, 2} Schlingmann K.P....Konrad M. (2002)
Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia. (PubMed id 12032570)^{1, 3} Walder R.Y....Sheffield V.C. (2002)
Novel type of signaling molecules: protein kinases covalently linked to ion channels. (PubMed id 11357414)^{1, 2} Riazanova L.V.... Riazanov A.G. (2001)
Alpha-kinases: a new class of protein kinases with a novel catalytic domain. (PubMed id 10021370)^{1, 3} Ryazanov A.G.... Dorovkov M.V. (1999)
EGF increases TRPM6 activity and surface expression. (PubMed id 19073827)^{1, 9} Thebault S....Bindels R.J. (2009)
Functional characterization of homo- and heteromeric channel kinases TRPM6 and TRPM7. (PubMed id 16636202)^{1, 9} Li M....Yue L. (2006)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 140803	HGNC: 17995	AceView: TRPM6	Ensembl:ENSG00000119121	euGenes: HUgn140803
ECgene: TRPM6	Kegg: 140803	H-InvDB: TRPM6

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for TRPM6	Pharmacogenomics, SNPs, Pathways

Intellectual Property for TRPM6 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for TRPM6 gene:
Search GeneIP for patents involving TRPM6

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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