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

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
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 View all (21 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (13)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DISORDER OF MAGNESIUM METABOLISM	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FEMALE REPRODUCTIVE SYSTEM DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hypomagnesemia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROLITHIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ROD-CONE DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TRPM6-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (48)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adenocarcinoma of lung (disorder)	Lung adenocarcinoma	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	26058915		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	26058915		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial Fibrillation	BEFREE	25796343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Fibrillation	Atrial fibrillation	Pubtator	28839241	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention Deficit Disorder with Hyperactivity	Attention deficit hyperactivity disorder	Pubtator	33565749	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebrovascular accident	Stroke	BEFREE	30739590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colitis	Colitis	BEFREE	29788266		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	30272358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	21352556, 30272358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21352556	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes	Diabetes	BEFREE	19149903, 20875900, 28224192		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Gestational diabetes	Pubtator	22733750	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	19149903, 20875900, 28224192		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	19149903, 22733750	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	19149903, 20875900		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystrophia myotonica 2	Myotonic dystrophy	BEFREE	22733750		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	BEFREE	30739590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	18192217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	LHGDN	18192217		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypocalcemia	Hypocalcemia	Pubtator	22180838, 23942199, 30144020, 32302086	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 1 Intestinal	Intestinal hypomagnesemia	Pubtator	22180838, 23942199, 26759217, 30144020, 33565749, 34012148	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 1, Intestinal	Intestinal Hypomagnesemia	BEFREE	12032568, 12032570, 14576148, 14976260, 16267500, 17197439, 18548273, 18759094, 20395377, 20932259, 21669885, 23689795, 23942199, 24650431, 24985022, 26759217, 29142255, 31704171 View all (3 more)		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 1, Intestinal	Intestinal Hypomagnesemia	ORPHANET_DG	12032568, 12032570		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 1, Intestinal	Intestinal Hypomagnesemia	UNIPROT_DG	12032568, 14976260, 23942199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 1, Intestinal	Intestinal Hypomagnesemia	GENOMICS_ENGLAND_DG	12032570, 21669885, 23942199		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 1, Intestinal	Intestinal Hypomagnesemia	CLINVAR_DG	16107578, 26813946		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 1, Intestinal	Intestinal Hypomagnesemia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypomagnesemia 2, renal	Hypomagnesemia	BEFREE	17918133		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoparathyroidism	Hypoparathyroidism	BEFREE	25137426		★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	33565749	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ischemic stroke	Ischemic Stroke	BEFREE	30739590		★★★★★ ★☆☆☆☆ Found in Text Mining only
Large cell carcinoma of lung	Lung Carcinoma	UNIPROT_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	33565749	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	30272358		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	BEFREE	30810438		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myocardial Ischemia	Myocardial ischemia	Pubtator	34326388	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephrocalcinosis	Nephrocalcinosis	BEFREE	21669885		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neural Tube Defects	Neural Tube Defect	BEFREE	19692351		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	25277194	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Phosphate Diabetes	Phosphate Diabetes	BEFREE	31295336		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary hypomagnesemia (disorder)	Hypomagnesemia	BEFREE	16107578, 18548273		★★★★★ ★☆☆☆☆ Found in Text Mining only
Primary hypomagnesemia with secondary hypocalcemia	Hypomagnesemia With Secondary Hypocalcemia	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	37650285	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal hypertension	Renal Hypertension	BEFREE	19546862		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatic Heart Disease	Rheumatic Heart Disease	BEFREE	25796343		★★★★★ ★☆☆☆☆ Found in Text Mining only
Schizophrenia	Schizophrenia	GWASCAT_DG	26198764		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vitamin D Deficiency	Vitamin D Deficiency	BEFREE	31295336		★★★★★ ★☆☆☆☆ Found in Text Mining only

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