TRPM6 - transient receptor potential cation channel subfamily M member 6 Gene

Also Known as HSH; HMGX; HOMG; CHAK2; HOMG1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 140803

About TRPM6

Cytogenetic location: 9q21.13 Genomic coordinates (GRCh38): 9:74,722,495-74,887,921 (from NCBI)

This gene has 5 transcripts (splice variants), 221 orthologues, 7 paralogues and is associated with 2 phenotypes. Biased expression in colon (RPKM 8.1), small intestine (RPKM 3.5) and 5 other tissues.

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 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]

TRPM6 Products (3)

mRNA	Protein	Name
NM_001177310.2	NP_001170781.1	transient receptor potential cation channel subfamily M member 6 isoform b
NM_001177311.2	NP_001170782.1	transient receptor potential cation channel subfamily M member 6 isoform c
NM_017662.5	NP_060132.3	transient receptor potential cation channel subfamily M member 6 isoform a

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables calcium ion transmembrane transporter activity	IDA IDA: Inferred from direct assay	14576148	GOA
enables magnesium ion transmembrane transporter activity	IDA IDA: Inferred from direct assay	14576148	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16636202	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in calcium ion transmembrane transport	IDA IDA: Inferred from direct assay	14576148	GOA
involved in magnesium ion transmembrane transport	IDA IDA: Inferred from direct assay	14576148	GOA
involved in response to toxic substance	IDA IDA: Inferred from direct assay	17575980	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in apical plasma membrane	IDA IDA: Inferred from direct assay	14576148	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TRPM6 Protein Structure

Alpha_kinase

0
400
800
1200
1600
2022 a.a.

Protein Preferred Names	Protein Names
transient receptor potential cation channel subfamily M member 6	channel kinase 2

Related Diseases

Diseases	Alias
Hypomagnesemia 1, Intestinal	Intestinal Hypomagnesemia 1 HOMG1 Hypomagnesemia With Secondary Hypocalcemia Hsh Hypomagnesemic Tetany Intestinal Hypomagnesemia With Secondary Hypocalcemia Homg Hypomagnesemia Caused By Selective Magnesium Malabsorption Hypomagnesemia Intestinal Type 1 Primary Hypomagnesemia With Secondary Hypocalcemia Phsh Hypomagnesemia, Intestinal, With Secondary Hypocalcemia Familial Primary Hypomagnesemia With Hypocalcuria Hypomagnesemia 1 Hypomagnesmic Tetany
Primary Hypomagnesemia	Familial Primary Hypomagnesemia Homg Primary Familial Hypomagnesemia Genetic Primary Hypomagnesemia Hypomagnesemia 1, Intestinal
Hypocalcemia, Autosomal Dominant 1	Autosomal Dominant Hypocalcemia Autosomal Dominant Hypocalcemia 1 HYPOC1 Hypocalcemia, Autosomal Dominant Hypercalciuric Hypocalcemia Hypocalcemia, Autosomal Dominant, With Bartter Syndrome Familial Hypocalcemia Hypocalcemia, Familial Hypoc Adh Autosomal Dominant Hypoparathyroidism Familial Hypercalciuric Hypocalcemia Ad Hypocalcemia Autosomal Dominant Hypocalcemia With Bartter Syndrome Hypoparathyroidism - Autosomal Dominant Hypocalcemia
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Hypomagnesemia 3, Renal	HOMG3 Renal Hypomagnesemia 3 Fhhnc Without Severe Ocular Involvement Renal Hypomagnesemia Type 3 Hypomagnesemia, Primary, Due To Defect In Renal Tubular Transport Of Magnesium Hypomagnesemia, Isolated Renal Hypomagnesemia, Familial, With Hypercalciuria And Nephrocalcinosis Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement Isolated Renal Hypomagnesemia Primary Hypomagnesemia Due To Defect In Renal Tubular Transport Of Magnesium Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Without Severe Ocular Involvement Hypomagnesemia 3 Familial Hypomagnesemia With Hypercalciuria And Nephrocalcinosis Fhhnc Hhn Renal Hypomagnesemia Hypercalciuria Nephrocalcinosis Hypomagnesemia, Type 3, Renal Primary Hypomagnesemia
Hypomagnesemia 4, Renal	Renal Hypomagnesemia 4 HOMG4 Hypomagnesemia, Renal, Normocalciuric Hypomagnesemia 4 Renal Hypomagnesemia Normocalciuric Hypomagnesemia, Type 4, Renal
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance	Sesame Syndrome East Syndrome SESAMES Epilepsy, Ataxia, Sensorineural Deafness And Tubulopathy Seizures, Sensorineural Deafness, Ataxia, Mental Retardation And Electrolyte Imbalance Epilepsy-Ataxia-Sensorineural Deafness-Tubulopathy Syndrome Seizures-Sensorineural Deafness-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome Epilepsy, Ataxia, Sensorineural Deafness, And Tubulopathy Seizures - Sensorineural Deafness - Ataxia - Intellectual Disability - Electrolyte Imbalance Epilepsy-Ataxia-Sensorineural Hearing Loss-Tubulopathy Syndrome Seizures-Sensorineural Hearing Loss-Ataxia-Intellectual Disability-Electrolyte Imbalance Syndrome Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance Epilepsy Ataxia Sensorineural Deafness And Tubulopathy Seizures, Sensorineural Deafness, Ataxia, Intellectual Disability, And Electrolyte Imbalance Syndrome
Pontocerebellar Hypoplasia, Type 7	Pontocerebellar Hypoplasia Type 7 PCH7 Pontocerebellar Hypoplasia-46,Xy Disorder Of Sex Development Syndrome Pontocerebellar Hypoplasia 7 Hypoplasia, Pontocerebellar, Type 7
Luminal Breast Carcinoma B	Luminal B Breast Carcinoma
Gitelman Syndrome	Familial Hypokalemia-Hypomagnesemia Hypomagnesemia-Hypokalemia, Primary Renotubular, With Hypocalciuria Potassium And Magnesium Depletion GTLMNS Gitelman'S Syndrome Gs Hypokalemia-Hypomagnesemia, Primary Renotubular, With Hypocalciuria Tubular Hypomagnesemia-Hypokalemia With Hypocalcuria Bartter Syndrome Gitelman Variant Bartter Syndrome Hypocalciuric Variant Primary Renotubular Hypomagnesemia-Hypokalemia With Hypocalciuria
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Spondyloepimetaphyseal Dysplasia, Pakistani Type Spondyloepimetaphyseal Dysplasia, Papss2 Type BCYM4 Semd, Pakistani Type Spondylodysplasia And Premature Pubarche Brachyolmia 4 With Mild Epiphyseal And Metaphyseal Changes Spondyloepimetaphyseal Dysplasia Pakistani Type Semd Pakistani Type Spondylometaepiphyseal Dysplasia Pakistani Type Brachyolmia, Type 4, With Mild Epiphyseal And Metaphyseal Changes
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1
Bartter Syndrome, Type 3	Bartter Disease Type 3 BARTS3 Bartter Syndrome Type 3 Bartter Syndrome, Classic Classic Bartter Syndrome Bartter Syndrome Classic Bartter Syndrome Type Iii Bartter Syndrome 3
Spina Bifida Occulta
Bartter Disease	Bartter Syndrome Bartter'S Syndrome Aldosteronism With Hyperplasia Of The Adrenal Cortex Hypokalemic Alkalosis With Hypercalciuria Potassium Wasting Juxtaglomerular Hyperplasia With Secondary Aldosteronism Renal Tubular Normotensive Hypokalemic Alkalosis With Hypercalciuria Salt-Losing Tubular Disorder, Henle'S Loop Type Salt-Wasting Tubulopathy, Henle'S Loop Type Bartters Syndrome
Mucolipidosis Iv	Mucolipidosis Type Iv ML4 Sialolipidosis Mucolipidosis Type 4 Ganglioside Sialidase Deficiency Mliv Ml Iv Berman Syndrome Ganglioside Neuraminidase Deficiency Ml 4 Mucolipidosis 4 Type Iv Mucolipidosis Gangliosidoses
Progressive Familial Heart Block	Hereditary Bundle Branch Defect Hereditary Bundle Branch System Defect Familial Lenegre Disease Familial Lev Disease Familial Lev-Lenegre Disease Familial Pccd Familial Progressive Heart Block Pfhb Bundle Branch Block Hbbd Lenegre Lev Disease Lev Syndrome Lev'S Disease Lev-Lenègre Disease Pccd Progressive Cardiac Conduction Defect Bundle-Branch Block
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Olmsted Syndrome Mutilating Palmoplantar Hyperkeratosis With Periorificial Keratotic Plaques Palmoplantar And Periorificial Keratoderma Olms
Bartter Syndrome, Type 4a, Neonatal, With Sensorineural Deafness	Bsnd Sensorineural Deafness With Mild Renal Dysfunction Bartter Disease Type 4a BARTS4A Bartter Syndrome, Type 4a Bartter Syndrome Type 4 Bartter Syndrome, Neonatal, With Sensorineural Deafness Bartter Syndrome With Sensorineural Deafness Bartter Syndrome Type 4a Neonatal Bartter Syndrome With Sensorineural Deafness Bartter Syndrome Type Iv Bartter Syndrome With Sensorineural Hearing Loss Bartter Syndrome 4a, Neonatal, With Sensorineural Deafness Hyperprostanglandin E Syndrome 4 Hypokalemic Alkalosis With Hypercalciuria Antenatal 4 Infantile Bartter Syndrome With Sensorineural Deafness
Autosomal Dominant Polycystic Kidney Disease	Polycystic Kidney Disease, Adult Type Adpkd Polycystic Kidney Diseases Polycystic Kidney, Autosomal Dominant Congenital Biliary Ectasias Polycystic Kidney And Hepatic Disease 1 Polycystic Kidney Disease, Autosomal Dominant Kidney, Polycystic, Disease, Autosomal Dominant Adult Polycystic Kidney Disease Polycystic Kidney, Adult Type Apckd - [Autosomal Polycystic Kidney Disease]

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-103073	Mesendogen	Inhibitor	99.84%	Unkown
HY-RS15116	TRPM6 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS20503	Trpm6 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27011	Trpm6 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	TRPM6	VGNC	VGNC:79107
Rattus norvegicus	TRPM6	RGD	RGD:1309942
Felis catus	TRPM6	VGNC	VGNC:66591
Mus musculus	TRPM6	MGD	MGI:2675603
Bos taurus	TRPM6	VGNC	VGNC:36392
Canis familiaris	TRPM6	VGNC	VGNC:47877
Others	TRPM6	NCBI