TRPM6 (transient receptor potential cation channel subfamily M member 6)
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Gene
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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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140803 |
Gene nameGene Name - the full gene name approved by the HGNC.
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Transient receptor potential cation channel subfamily M member 6 |
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
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TRPM6 |
SynonymsGene synonyms aliases
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CHAK2, HMGX, HOMG, HOMG1, HSH |
ChromosomeChromosome number
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9 |
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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9q21.13 |
SummarySummary of gene provided in NCBI Entrez Gene.
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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 |
SNPsSNP information provided by dbSNP.
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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 |
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miRNAmiRNA information provided by mirtarbase database.
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Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
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Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
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Protein
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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 |
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Sequence |
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Sequence length |
2022 |
Interactions |
View interactions |
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
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Associated diseases
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Causal |
Disease name |
Disease term |
dbSNP ID |
References |
Intestinal hypomagnesemia |
Hypomagnesemia 1, Intestinal |
rs121912622, rs1587538382, rs1587520094, rs1587522206, rs121912623, rs121912624, rs1587543641, rs121912625, rs869025214, rs1060499646, rs1114167360 |
16107578, 12032568, 21669885, 23942199, 26813946, 14976260, 12032570 |
Lung adenocarcinoma |
Adenocarcinoma of lung (disorder) |
rs28934576, rs121913530, rs397516975, rs587776805, rs121913469, rs121913364, rs121913351, rs121913366, rs397516896, rs397516977, rs397516981, rs397517127, rs121913344, rs727504233, rs121913370, rs760043106, rs1057519788, rs1131692238, rs1131692237, rs1554350382 |
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Lung carcinoma |
Large cell carcinoma of lung |
rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193 |
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Schizophrenia |
Schizophrenia |
rs74315508, rs74315509, rs13447324, rs1558507406, rs387906932, rs387906933, rs863223354, rs863223355, rs776061422, rs863223349, rs748809996, rs759748655, rs863223353, rs863223350, rs863223356, rs781821239, rs863223348, rs863223346, rs863223347, rs863223351, rs863223352, rs61734270, rs797045205, rs869312829, rs869312830, rs770913157, rs869312832, rs869312831, rs781720548, rs1262969313 |
26198764 |
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Unknown |
Disease name |
Disease term |
dbSNP ID |
References |
Hypomagnesemia with secondary hypocalcemia |
Primary hypomagnesemia with secondary hypocalcemia |
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