Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
140803
Gene name Gene Name - the full gene name approved by the HGNC.
Transient receptor potential cation channel subfamily M member 6
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TRPM6
Synonyms (NCBI Gene) Gene synonyms aliases
CHAK2, HMGX, HOMG, HOMG1, HSH
Chromosome Chromosome number
9
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q21.13
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
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
miRNA miRNA information provided by mirtarbase database.
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
607009 17995 ENSG00000119121
Protein
UniProt ID 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
QSKHLFQILMEC
MVHRDCITIFDADSEEQQDLDLAILTALLKGTNLSASEQLNLAMAWDR
VDIAKKHILIYEQHWKPDALEQAMSDALVMDRVDFVKLLIEYGVNLHRFLTIPRLEELYN
TKQGPTNTLLHHLVQDVKQHTLLSGYRITLIDIGLVVEYLIGRAYRSNYTRKHFRALYNN
LYRKYKHQRHSSGNRNESAESTLHSQFIRTAQPYKFKEKSIVLHKSRKKSKEQNVSDDPE
STGFLYPYNDLLVWAVLMKRQKMAMFFWQHGEEATVKAVIACILYRAMAHEAKESHMVDD
ASEELKNYSKQFGQLALDLLEKAFKQNERMAMTLLTYELRNWSNSTCLKLAVSGGLRPFV
SHTCTQMLLTDMWMGRLKMRKNSWLKIIISIILPPTILTLEFKSKAEMSHVPQSQDFQFM
WYYSDQNASSSKESASVKEYDLERGHDEKLDENQHFGLESGHQHLPWTRKVYEFYSAPIV
KFWFYTMAYLAFLMLFTYTVLVEMQPQPSVQEWLVSIYIFTNAIEVVREICISEPGKFTQ
KVKVWISEYWNLTETVAIGLFSAGFVLRWGDPPFHTAGRLIYCIDIIFWFSRLLDFFAVN
QHAGPYVTMIAKMTANMFYIVIIMAIVLLSFGVARKAILSPKEPPSWSLARDIVFEPYWM
IYGEVYAGEIDVCSSQPSCPPGSFLTPFLQAVYLFVQYIIMVNLLIAFFNNVYLDMESIS
N
NLWKYNRYRYIMTYHEKPWLPPPLILLSHVGLLLRRLCCHRAPHDQEEGDVGLKLYLSK
EDLKKLHDFEEQCVEKYFHEKMEDVNCSCEERIRVTSERVTEMYFQLKEMNEKVSFIKDS
LLSLDSQVGHLQDLSALTVDTLKVL
SAVDTLQEDEALLAKRKHSTCKKLPHSWSNVICAE
VLGSMEIAGEKKYQYYSMPSSLLRSLAGGRHPPRVQRGALLEITNSKREATNVRNDQERQ
ETQSSIVVSGVSPNRQAHSKYGQFLLVPSNLKRVPFSAETVLPLSRPSVPDVLATEQDIQ
TEVLVHLTGQTPVVSDWASVDEPKEKHEPIAHLLDGQDKAEQVLPTLSCTPEPMTMSSPL
SQAKIMQTGGGYVNWAFSEGDETGVFSIKKKWQTCLPSTCDSDSSRSEQHQKQAQDSSLS
DNSTRSAQSSECSEVGPWLQPNTSFWINPLRRYRPFARSHSFRFHKEEKLMKICKIKNLS
GSSEIGQGAWVKAKMLTKDRRLSKKKKNTQGLQVPIITVNACSQSDQLNPEPGENSISEE
EYSKNWFTVSKFSHTGVEPYIHQKMKTKEIGQCAIQISDYLKQSQEDLSKNSLWNSRSTN
LNRNSLLKSSIGVDKISASLKSPQEPHHHYSAIERNNLMRLSQTIPFTPVQLFAGEEITV
YRLEESSPLNLDKSMSSWSQRGRAAMIQVLSREEMDGGLRKAMRVVSTWSEDDILKPGQV
FIVKSFLPEVVRTWHKIFQESTVLHLCLREIQQQRAAQKLIYTFNQVKPQTIPYTPRFLE
VFLIYCHSANQWLTIEKYMTGEFRKYNNNNGDEITPTNTLEELMLAFSHWTYEYTRGELL
VLDLQGVGENLTDPSVIKPEVKQSRGMVFGPANLGEDAIRNFIAKHHCNSCC
RKLKLPDL
KRNDYSPERINSTFGLEIKIESAEEPPARETGRNSPEDDMQL
Sequence length 2022
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Mineral absorption   TRP channels
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Intestinal Hypomagnesemia Intestinal hypomagnesemia 1 rs1114167360, rs121912622, rs1587538382, rs1587520094, rs1587522206, rs121912623, rs121912624, rs1587543641, rs121912625, rs869025214, rs1060499646 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Alzheimer disease Alzheimer's disease or family history of Alzheimer's disease N/A N/A GWAS
Schizophrenia Schizophrenia N/A N/A GWAS
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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