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

Homo sapiens

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

Gene ID: 140803 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-103073	Mesendogen	Inhibitor	99.19%	Unkown
HY-RS15116	TRPM6 Human Pre-designed siRNA Set A	Pre-designed Sets	/	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

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