Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	140803
Gene name	Transient receptor potential cation channel subfamily M member 6
Gene symbol	TRPM6
Synonyms (NCBI Gene)	CHAK2HMGXHOMGHOMG1HSH
Chromosome	9
Chromosome location	9q21.13
Summary	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

Show/Hide all (12)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121912622	G>C	Pathogenic	Coding sequence variant, stop gained
rs121912623	G>A	Pathogenic	Coding sequence variant, stop gained
rs121912624	G>A,C	Pathogenic	Coding sequence variant, missense variant, stop gained
rs121912625	G>A	Pathogenic	Coding sequence variant, missense variant
rs797045204	T>C	Pathogenic	Coding sequence variant, missense variant
rs869025214	C>T	Pathogenic	Splice donor variant
rs1060499646	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant
rs1114167360	G>T	Pathogenic	Coding sequence variant, stop gained
rs1587520094	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs1587522206	C>T	Pathogenic	Splice donor variant
rs1587538382	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1587543641	C>G	Pathogenic	Intron variant

207

Show/Hide all (207)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023597	hsa-miR-1-3p	Microarray	18668037
MIRT674925	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT671824	hsa-miR-5693	HITS-CLIP	23824327
MIRT674924	hsa-miR-4786-3p	HITS-CLIP	23824327
MIRT674923	hsa-miR-671-5p	HITS-CLIP	23824327
MIRT671822	hsa-miR-4284	HITS-CLIP	23824327
MIRT671821	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT674922	hsa-miR-4747-5p	HITS-CLIP	23824327
MIRT674921	hsa-miR-5196-5p	HITS-CLIP	23824327
MIRT671820	hsa-miR-7977	HITS-CLIP	23824327
MIRT674920	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT674919	hsa-miR-3122	HITS-CLIP	23824327
MIRT674918	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT674917	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT674916	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT671826	hsa-miR-6768-3p	HITS-CLIP	23824327
MIRT671825	hsa-miR-4753-5p	HITS-CLIP	23824327
MIRT671824	hsa-miR-5693	HITS-CLIP	23824327
MIRT671823	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT671822	hsa-miR-4284	HITS-CLIP	23824327
MIRT671821	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671820	hsa-miR-7977	HITS-CLIP	23824327
MIRT671819	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT513001	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT513000	hsa-miR-3163	PAR-CLIP	21572407
MIRT512999	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT512998	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT512997	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT516649	hsa-miR-548c-3p	PAR-CLIP	23446348
MIRT513001	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT513000	hsa-miR-3163	PAR-CLIP	23446348
MIRT512999	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT512998	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT516648	hsa-miR-6074	PAR-CLIP	23446348
MIRT512997	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT513001	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT513000	hsa-miR-3163	PAR-CLIP	23446348
MIRT512999	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT512998	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT512997	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT674925	hsa-miR-383-3p	HITS-CLIP	23824327
MIRT671824	hsa-miR-5693	HITS-CLIP	23824327
MIRT674924	hsa-miR-4786-3p	HITS-CLIP	23824327
MIRT674923	hsa-miR-671-5p	HITS-CLIP	23824327
MIRT671822	hsa-miR-4284	HITS-CLIP	23824327
MIRT671821	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT674922	hsa-miR-4747-5p	HITS-CLIP	23824327
MIRT674921	hsa-miR-5196-5p	HITS-CLIP	23824327
MIRT671820	hsa-miR-7977	HITS-CLIP	23824327
MIRT674920	hsa-miR-450a-1-3p	HITS-CLIP	23824327
MIRT674919	hsa-miR-3122	HITS-CLIP	23824327
MIRT674918	hsa-miR-3913-5p	HITS-CLIP	23824327
MIRT674917	hsa-miR-887-5p	HITS-CLIP	23824327
MIRT674916	hsa-miR-6513-5p	HITS-CLIP	23824327
MIRT671826	hsa-miR-6768-3p	HITS-CLIP	23824327
MIRT671825	hsa-miR-4753-5p	HITS-CLIP	23824327
MIRT671824	hsa-miR-5693	HITS-CLIP	23824327
MIRT671823	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT671822	hsa-miR-4284	HITS-CLIP	23824327
MIRT671821	hsa-miR-24-3p	HITS-CLIP	23824327
MIRT671820	hsa-miR-7977	HITS-CLIP	23824327
MIRT671819	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT513001	hsa-miR-1277-5p	PAR-CLIP	21572407
MIRT513000	hsa-miR-3163	PAR-CLIP	21572407
MIRT512999	hsa-miR-410-3p	PAR-CLIP	21572407
MIRT512998	hsa-miR-5011-5p	PAR-CLIP	21572407
MIRT512997	hsa-miR-190a-3p	PAR-CLIP	21572407
MIRT516649	hsa-miR-548c-3p	PAR-CLIP	23446348
MIRT513001	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT513000	hsa-miR-3163	PAR-CLIP	23446348
MIRT512999	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT512998	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT516648	hsa-miR-6074	PAR-CLIP	23446348
MIRT512997	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT513001	hsa-miR-1277-5p	PAR-CLIP	23446348
MIRT513000	hsa-miR-3163	PAR-CLIP	23446348
MIRT512999	hsa-miR-410-3p	PAR-CLIP	23446348
MIRT512998	hsa-miR-5011-5p	PAR-CLIP	23446348
MIRT512997	hsa-miR-190a-3p	PAR-CLIP	23446348
MIRT1457343	hsa-miR-3165	CLIP-seq
MIRT1457344	hsa-miR-3200-5p	CLIP-seq
MIRT1457345	hsa-miR-3665	CLIP-seq
MIRT1457346	hsa-miR-3672	CLIP-seq
MIRT1457347	hsa-miR-3714	CLIP-seq
MIRT1457348	hsa-miR-4433	CLIP-seq
MIRT1457349	hsa-miR-4459	CLIP-seq
MIRT1457350	hsa-miR-4649-3p	CLIP-seq
MIRT1457351	hsa-miR-4736	CLIP-seq
MIRT1457352	hsa-miR-4768-3p	CLIP-seq
MIRT1457353	hsa-miR-940	CLIP-seq
MIRT1457354	hsa-miR-4317	CLIP-seq
MIRT1457355	hsa-miR-25	CLIP-seq
MIRT1457356	hsa-miR-32	CLIP-seq
MIRT1457357	hsa-miR-363	CLIP-seq
MIRT1457358	hsa-miR-367	CLIP-seq
MIRT1457359	hsa-miR-4278	CLIP-seq
MIRT1457354	hsa-miR-4317	CLIP-seq
MIRT1457360	hsa-miR-4325	CLIP-seq
MIRT1457361	hsa-miR-4716-3p	CLIP-seq
MIRT1457362	hsa-miR-508-5p	CLIP-seq
MIRT1457363	hsa-miR-555	CLIP-seq
MIRT1457364	hsa-miR-615-5p	CLIP-seq
MIRT1457365	hsa-miR-622	CLIP-seq
MIRT1457366	hsa-miR-661	CLIP-seq
MIRT1457367	hsa-miR-766	CLIP-seq
MIRT1457368	hsa-miR-92a	CLIP-seq
MIRT1457369	hsa-miR-92b	CLIP-seq
MIRT1457343	hsa-miR-3165	CLIP-seq
MIRT1457345	hsa-miR-3665	CLIP-seq
MIRT1457347	hsa-miR-3714	CLIP-seq
MIRT1457351	hsa-miR-4736	CLIP-seq
MIRT1457353	hsa-miR-940	CLIP-seq
MIRT2137141	hsa-miR-1207-5p	CLIP-seq
MIRT1457346	hsa-miR-3672	CLIP-seq
MIRT2137142	hsa-miR-3926	CLIP-seq
MIRT1457348	hsa-miR-4433	CLIP-seq
MIRT1457349	hsa-miR-4459	CLIP-seq
MIRT2137143	hsa-miR-4763-3p	CLIP-seq
MIRT1457352	hsa-miR-4768-3p	CLIP-seq
MIRT2137144	hsa-miR-4786-5p	CLIP-seq
MIRT2137145	hsa-miR-548s	CLIP-seq
MIRT2137146	hsa-miR-769-5p	CLIP-seq
MIRT1457353	hsa-miR-940	CLIP-seq
MIRT1457355	hsa-miR-25	CLIP-seq
MIRT1457343	hsa-miR-3165	CLIP-seq
MIRT1457356	hsa-miR-32	CLIP-seq
MIRT1457344	hsa-miR-3200-5p	CLIP-seq
MIRT1457357	hsa-miR-363	CLIP-seq
MIRT1457345	hsa-miR-3665	CLIP-seq
MIRT1457358	hsa-miR-367	CLIP-seq
MIRT1457346	hsa-miR-3672	CLIP-seq
MIRT1457347	hsa-miR-3714	CLIP-seq
MIRT1457354	hsa-miR-4317	CLIP-seq
MIRT1457360	hsa-miR-4325	CLIP-seq
MIRT1457348	hsa-miR-4433	CLIP-seq
MIRT1457349	hsa-miR-4459	CLIP-seq
MIRT1457350	hsa-miR-4649-3p	CLIP-seq
MIRT1457351	hsa-miR-4736	CLIP-seq
MIRT1457352	hsa-miR-4768-3p	CLIP-seq
MIRT2137144	hsa-miR-4786-5p	CLIP-seq
MIRT1457362	hsa-miR-508-5p	CLIP-seq
MIRT1457363	hsa-miR-555	CLIP-seq
MIRT1457366	hsa-miR-661	CLIP-seq
MIRT1457367	hsa-miR-766	CLIP-seq
MIRT2137146	hsa-miR-769-5p	CLIP-seq
MIRT1457368	hsa-miR-92a	CLIP-seq
MIRT1457369	hsa-miR-92b	CLIP-seq
MIRT1457353	hsa-miR-940	CLIP-seq
MIRT1457355	hsa-miR-25	CLIP-seq
MIRT1457343	hsa-miR-3165	CLIP-seq
MIRT1457356	hsa-miR-32	CLIP-seq
MIRT1457357	hsa-miR-363	CLIP-seq
MIRT1457345	hsa-miR-3665	CLIP-seq
MIRT1457358	hsa-miR-367	CLIP-seq
MIRT1457347	hsa-miR-3714	CLIP-seq
MIRT1457354	hsa-miR-4317	CLIP-seq
MIRT1457360	hsa-miR-4325	CLIP-seq
MIRT1457351	hsa-miR-4736	CLIP-seq
MIRT1457362	hsa-miR-508-5p	CLIP-seq
MIRT1457363	hsa-miR-555	CLIP-seq
MIRT1457366	hsa-miR-661	CLIP-seq
MIRT1457367	hsa-miR-766	CLIP-seq
MIRT1457368	hsa-miR-92a	CLIP-seq
MIRT1457369	hsa-miR-92b	CLIP-seq
MIRT1457353	hsa-miR-940	CLIP-seq
MIRT2137141	hsa-miR-1207-5p	CLIP-seq
MIRT1457343	hsa-miR-3165	CLIP-seq
MIRT1457345	hsa-miR-3665	CLIP-seq
MIRT2462430	hsa-miR-3675-3p	CLIP-seq
MIRT1457347	hsa-miR-3714	CLIP-seq
MIRT2462431	hsa-miR-450b-3p	CLIP-seq
MIRT2462432	hsa-miR-4514	CLIP-seq
MIRT2462433	hsa-miR-4645-5p	CLIP-seq
MIRT2462434	hsa-miR-4662a-5p	CLIP-seq
MIRT2462435	hsa-miR-4673	CLIP-seq
MIRT2462436	hsa-miR-4676-5p	CLIP-seq
MIRT2462437	hsa-miR-4684-5p	CLIP-seq
MIRT2462438	hsa-miR-4692	CLIP-seq
MIRT2462439	hsa-miR-4713-3p	CLIP-seq
MIRT1457351	hsa-miR-4736	CLIP-seq
MIRT2137143	hsa-miR-4763-3p	CLIP-seq
MIRT2462440	hsa-miR-575	CLIP-seq
MIRT2462441	hsa-miR-638	CLIP-seq
MIRT2462442	hsa-miR-769-3p	CLIP-seq
MIRT1457353	hsa-miR-940	CLIP-seq
MIRT2462430	hsa-miR-3675-3p	CLIP-seq
MIRT1457347	hsa-miR-3714	CLIP-seq
MIRT2462433	hsa-miR-4645-5p	CLIP-seq
MIRT2462434	hsa-miR-4662a-5p	CLIP-seq
MIRT2462435	hsa-miR-4673	CLIP-seq
MIRT2462436	hsa-miR-4676-5p	CLIP-seq
MIRT2462437	hsa-miR-4684-5p	CLIP-seq
MIRT1457351	hsa-miR-4736	CLIP-seq
MIRT2462440	hsa-miR-575	CLIP-seq
MIRT1457353	hsa-miR-940	CLIP-seq
MIRT1457343	hsa-miR-3165	CLIP-seq
MIRT1457345	hsa-miR-3665	CLIP-seq
MIRT2462430	hsa-miR-3675-3p	CLIP-seq
MIRT1457347	hsa-miR-3714	CLIP-seq
MIRT2462433	hsa-miR-4645-5p	CLIP-seq
MIRT2462434	hsa-miR-4662a-5p	CLIP-seq
MIRT2462435	hsa-miR-4673	CLIP-seq
MIRT2462436	hsa-miR-4676-5p	CLIP-seq
MIRT2462437	hsa-miR-4684-5p	CLIP-seq
MIRT1457351	hsa-miR-4736	CLIP-seq
MIRT2462440	hsa-miR-575	CLIP-seq
MIRT1457353	hsa-miR-940	CLIP-seq

Show/Hide all (43)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004672	Function	Protein kinase activity	IBA
GO:0004672	Function	Protein kinase activity	IEA
GO:0004674	Function	Protein serine/threonine kinase activity	IDA	18365021
GO:0004674	Function	Protein serine/threonine kinase activity	IEA
GO:0005216	Function	Monoatomic ion channel activity	IEA
GO:0005261	Function	Monoatomic cation channel activity	IEA
GO:0005262	Function	Calcium channel activity	IBA
GO:0005262	Function	Calcium channel activity	IEA
GO:0005262	Function	Calcium channel activity	TAS
GO:0005515	Function	Protein binding	IPI	16636202, 18258429
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IDA	28784805
GO:0005634	Component	Nucleus	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	23942199
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006811	Process	Monoatomic ion transport	IEA
GO:0006816	Process	Calcium ion transport	IBA
GO:0006816	Process	Calcium ion transport	IEA
GO:0009636	Process	Response to toxic substance	IDA	17575980
GO:0015085	Function	Calcium ion transmembrane transporter activity	IDA	14576148
GO:0015095	Function	Magnesium ion transmembrane transporter activity	IDA	14576148
GO:0015095	Function	Magnesium ion transmembrane transporter activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016301	Function	Kinase activity	IEA
GO:0016324	Component	Apical plasma membrane	IBA
GO:0016324	Component	Apical plasma membrane	IDA	14576148
GO:0016324	Component	Apical plasma membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0030001	Process	Metal ion transport	IEA
GO:0031526	Component	Brush border membrane	IEA
GO:0034220	Process	Monoatomic ion transmembrane transport	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0051262	Process	Protein tetramerization	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	IDA	14576148
GO:0070588	Process	Calcium ion transmembrane transport	IEA
GO:0070588	Process	Calcium ion transmembrane transport	TAS
GO:0098655	Process	Monoatomic cation transmembrane transport	IBA
GO:0106310	Function	Protein serine kinase activity	IEA
GO:1903830	Process	Magnesium ion transmembrane transport	IDA	14576148

MIM	HGNC	e!Ensembl
607009	17995	ENSG00000119121

Q9BX84

Protein name

Transient receptor potential cation channel subfamily M member 6 (EC 2.7.11.1) (Channel kinase 2) (Melastatin-related TRP cation channel 6) [Cleaved into: TRPM6 kinase, cleaved form]

Protein function

Bifunctional protein that combines an ion channel with an intrinsic kinase domain, enabling it to modulate cellular functions either by conducting ions through the pore or by phosphorylating downstream proteins via its kinase domain (PubMed:1457

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18139	LSDAT_euk	109 → 372	SLOG in TRPM	Family
PF00520	Ion_trans	841 → 1081	Ion transport protein	Family
PF16519	TRPM_tetra	1170 → 1225	Tetramerisation domain of TRPM	Domain
PF02816	Alpha_kinase	1775 → 1972	Alpha-kinase family	Family

Tissue specificity

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-H5

Sequence

MKEQPVLERLQSQKSWIKGVFDKRECSTIIPSSKNPHRCTPVCQVCQNLIRCYCGRLIGD
HAGIDYSWTISAAKGKESEQWSVEKHTTKSPTDTFGTINFQDGEHTHHAKYIRTSYDTKL
DHLLHLMLKEWKMELPKLVISVHGGIQNFTMPSKFKEIFSQGLVKAAETTGAWIITEGIN
TGVSKHVGDALKSHSSHSLRKIWTVGIPPWGVIENQRDLIGKDVVCLYQTLDNPLSKLTT
LNSMHSHFILSDDGTVGKYGNEMKLRRNLEKYLSLQKIHCRSRQGVPVVGLVVEGGPNVI
LSVWETVKDKDPVVVCEGTGRAADLLAFTHKHLADEGMLRPQVKEEIICMIQNTFNFSLK
QSKHLFQILMECMVHRDCITIFDADSEEQQDLDLAILTALLKGTNLSASEQLNLAMAWDR
VDIAKKHILIYEQHWKPDALEQAMSDALVMDRVDFVKLLIEYGVNLHRFLTIPRLEELYN
TKQGPTNTLLHHLVQDVKQHTLLSGYRITLIDIGLVVEYLIGRAYRSNYTRKHFRALYNN
LYRKYKHQRHSSGNRNESAESTLHSQFIRTAQPYKFKEKSIVLHKSRKKSKEQNVSDDPE
STGFLYPYNDLLVWAVLMKRQKMAMFFWQHGEEATVKAVIACILYRAMAHEAKESHMVDD
ASEELKNYSKQFGQLALDLLEKAFKQNERMAMTLLTYELRNWSNSTCLKLAVSGGLRPFV
SHTCTQMLLTDMWMGRLKMRKNSWLKIIISIILPPTILTLEFKSKAEMSHVPQSQDFQFM
WYYSDQNASSSKESASVKEYDLERGHDEKLDENQHFGLESGHQHLPWTRKVYEFYSAPIV
KFWFYTMAYLAFLMLFTYTVLVEMQPQPSVQEWLVSIYIFTNAIEVVREICISEPGKFTQ
KVKVWISEYWNLTETVAIGLFSAGFVLRWGDPPFHTAGRLIYCIDIIFWFSRLLDFFAVN
QHAGPYVTMIAKMTANMFYIVIIMAIVLLSFGVARKAILSPKEPPSWSLARDIVFEPYWM
IYGEVYAGEIDVCSSQPSCPPGSFLTPFLQAVYLFVQYIIMVNLLIAFFNNVYLDMESIS
NNLWKYNRYRYIMTYHEKPWLPPPLILLSHVGLLLRRLCCHRAPHDQEEGDVGLKLYLSK
EDLKKLHDFEEQCVEKYFHEKMEDVNCSCEERIRVTSERVTEMYFQLKEMNEKVSFIKDS
LLSLDSQVGHLQDLSALTVDTLKVLSAVDTLQEDEALLAKRKHSTCKKLPHSWSNVICAE
VLGSMEIAGEKKYQYYSMPSSLLRSLAGGRHPPRVQRGALLEITNSKREATNVRNDQERQ
ETQSSIVVSGVSPNRQAHSKYGQFLLVPSNLKRVPFSAETVLPLSRPSVPDVLATEQDIQ
TEVLVHLTGQTPVVSDWASVDEPKEKHEPIAHLLDGQDKAEQVLPTLSCTPEPMTMSSPL
SQAKIMQTGGGYVNWAFSEGDETGVFSIKKKWQTCLPSTCDSDSSRSEQHQKQAQDSSLS
DNSTRSAQSSECSEVGPWLQPNTSFWINPLRRYRPFARSHSFRFHKEEKLMKICKIKNLS
GSSEIGQGAWVKAKMLTKDRRLSKKKKNTQGLQVPIITVNACSQSDQLNPEPGENSISEE
EYSKNWFTVSKFSHTGVEPYIHQKMKTKEIGQCAIQISDYLKQSQEDLSKNSLWNSRSTN
LNRNSLLKSSIGVDKISASLKSPQEPHHHYSAIERNNLMRLSQTIPFTPVQLFAGEEITV
YRLEESSPLNLDKSMSSWSQRGRAAMIQVLSREEMDGGLRKAMRVVSTWSEDDILKPGQV
FIVKSFLPEVVRTWHKIFQESTVLHLCLREIQQQRAAQKLIYTFNQVKPQTIPYTPRFLE
VFLIYCHSANQWLTIEKYMTGEFRKYNNNNGDEITPTNTLEELMLAFSHWTYEYTRGELL
VLDLQGVGENLTDPSVIKPEVKQSRGMVFGPANLGEDAIRNFIAKHHCNSCCRKLKLPDL
KRNDYSPERINSTFGLEIKIESAEEPPARETGRNSPEDDMQL

Sequence length

2022

Interactions

View interactions

	KEGG		Reactome
	Mineral absorption		TRP channels

288

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intestinal hypomagnesemia 1	Pathogenic; Likely pathogenic	rs371363425, rs2117943840, rs1444779891, rs2118927777, rs1179034156, rs1263468898, rs778418403, rs2490067570, rs1828760353, rs1587550393, rs2489966877, rs121912622, rs1587538382, rs773117784, rs1587520094 View all (11 more)	RCV001331790 RCV001726497 RCV001527399 RCV001527400 RCV001535997 RCV001783915 RCV002052227 RCV002283639 RCV002285108 RCV002285109 RCV002289441 RCV000003758 RCV000003760 RCV000003761 RCV000003762 RCV000003763 RCV000003764 RCV000003765 RCV000003766 RCV000003768 RCV000207483 RCV003314359 RCV003314375 RCV003448931 RCV000463560 RCV000491206

Show/Hide Unknown Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Uncertain significance	rs199617901	RCV005908835
Hypomagnesemia	Uncertain significance	rs760386770	RCV005254114
Lung cancer	Benign	rs73650058	RCV005918017
Malignant tumor of esophagus	Benign	rs139475376	RCV005900581
Sarcoma	Benign; Likely benign	rs56155062	RCV005900582
TRPM6-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	rs141159434, rs56290308, rs200248159, rs143164660, rs56155062, rs2489966916, rs763383671, rs150874152, rs41304234, rs142043309, rs143861381, rs140812450, rs570955795, rs140835112	RCV003936314 RCV003957874 RCV003957875 RCV003932523 RCV003922654 RCV003983460 RCV003911627 RCV003950403 RCV004758072 RCV003958289 RCV003950801 RCV003943250 RCV003973122 RCV003908423

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Atrial Fibrillation	Stimulate	28839241
Attention Deficit Disorder with Hyperactivity	Associate	33565749
Chromosome 9 duplication 9q21	Associate	37239476
Colorectal Neoplasms	Associate	21352556
Compassion Fatigue	Associate	24650431, 27624449, 35561741
Diabetes Gestational	Associate	22733750
Diabetes Mellitus Type 2	Associate	19149903, 22733750
Epileptic Syndromes	Associate	31448104
Hypocalcemia	Associate	22180838, 23942199, 30144020, 32302086
Hypomagnesemia 1 Intestinal	Associate	22180838, 23942199, 26759217, 30144020, 33565749, 34012148
Hypomagnesemia primary	Associate	26813946, 32302086
Intellectual Disability	Associate	33565749
Intracranial Hemorrhage Hypertensive	Inhibit	21957871
Learning Disabilities	Associate	33565749
Myocardial Ischemia	Stimulate	34326388
Neoplasms	Associate	21352556
Neuroblastoma	Associate	25277194
Prehypertension	Associate	29256407
Pulmonary Disease Chronic Obstructive	Associate	37650285

TRPM6 (transient receptor potential cation channel subfamily M member 6)