TRPM6

TRPM6
Identifiers
Aliases	TRPM6 , CHAK2, HMGX, HOMG, HOMG1, HSH, transient receptor potential cation channel subfamily M member 6
External IDs	OMIM: 607009 MGI: 2675603 HomoloGene: 9767 GeneCards: TRPM6
Gene location (Human)
Chr.	Chromosome 9 (human)
End	74,888,094 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	18,869,875 bp
RNA expression pattern
	Top expressed in
	jejunal mucosa; ; rectum; ; hair follicle; ; duodenum; ; corpus callosum; ; blood; ; retinal pigment epithelium; ; bone marrow cells; ; lower lobe of lung; ; inferior ganglion of vagus nerve;
	Top expressed in
	conjunctival fornix; ; left colon; ; spermatid; ; right lung lobe; ; seminiferous tubule; ; oocyte; ; secondary oocyte; ; Paneth cell; ; yolk sac; ; blastocyst;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	transferase activity ; nucleotide binding ; metal ion binding ; kinase activity ; protein serine/threonine kinase activity ; ion channel activity ; protein binding ; cation channel activity ; ATP binding ; calcium channel activity ;
Cellular component	integral component of membrane ; membrane ; plasma membrane ; brush border membrane ; apical plasma membrane ;
Biological process	phosphorylation ; metal ion transport ; cation transport ; ion transport ; protein tetramerization ; protein phosphorylation ; calcium ion transmembrane transport ; response to toxic substance ; calcium ion transport ; transmembrane transport ;
	Sources:Amigo / QuickGO
Orthologs
	140803
	225997
	ENSG00000119121
	ENSMUSG00000024727
	Q9BX84
	Q8CIR4
	NM_001177310 ; NM_001177311 ; NM_017662
	NM_153417
	NP_001170781 ; NP_001170782 ; NP_060132
	NP_700466
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated June 21, 2023

TRPM6 is a transient receptor potential ion channel associated with hypomagnesemia with secondary hypocalcemia.^[5]

Related Research Articles

Hypomagnesemia with secondary hypocalcemia (HSH) is an autosomal recessive genetic disorder affecting intestinal magnesium absorption. Decreased intestinal magnesium reabsorption and the resulting decrease in serum magnesium levels is believed to cause lowered parathyroid hormone (PTH) output by the parathyroid gland. This results in decreased PTH and decreased serum calcium levels (hypocalcemia). This manifests in convulsions and spasms in early infancy which, if left untreated, can lead to mental retardation or death. HSH is caused by mutations in the TRPM6 gene.

TRPM is a family of transient receptor potential ion channels (M standing for wikt:melastatin). Functional TRPM channels are believed to form tetramers. The TRPM family consists of eight different channels, TRPM1–TRPM8.

Mucolipin-1 also known as TRPML1 is a protein that in humans is encoded by the MCOLN1 gene. It is a member of the small family of the TRPML channels, a subgroup of the large protein family of TRP ion channels.

Transient receptor potential cation channel, subfamily C, member 6, also known as TRPC6, is a human gene encoding a protein of the same name. TRPC6 is a transient receptor potential channel of the classical TRPC subfamily. It has been associated with depression and anxiety, as well as with focal segmental glomerulosclerosis (FSGS).

Transient receptor potential cation channel subfamily M member 1 is a protein that in humans is encoded by the TRPM1 gene.

Transient receptor potential canonical 1 (TRPC1) is a protein that in humans is encoded by the TRPC1 gene.

Transient receptor potential cation channel, subfamily C, member 2, also known as TRPC2, is a protein that in humans is encoded by the TRPC2 pseudogene. This protein is not expressed in humans but is in certain other species such as mouse.

The short transient receptor potential channel 4 (TrpC4), also known as Trp-related protein 4, is a protein that in humans is encoded by the TRPC4 gene.

Short transient receptor potential channel 5 (TrpC5) also known as transient receptor protein 5 (TRP-5) is a protein that in humans is encoded by the TRPC5 gene. TrpC5 is subtype of the TRPC family of mammalian transient receptor potential ion channels.

Transient receptor potential cation channel, subfamily M, member 2, also known as TRPM2, is a protein that in humans is encoded by the TRPM2 gene.

Transient receptor potential cation channel subfamily M member 5 (TRPM5), also known as long transient receptor potential channel 5 is a protein that in humans is encoded by the TRPM5 gene.

Transient receptor potential cation channel subfamily M member 4 (hTRPM4), also known as melastatin-4, is a protein that in humans is encoded by the TRPM4 gene.

Transient receptor potential cation channel, subfamily C, member 7, also known as TRPC7, is a human gene encoding a protein of the same name.

Transient receptor potential cation channel subfamily V member 4 is an ion channel protein that in humans is encoded by the TRPV4 gene.

Transient receptor potential cation channel subfamily M (melastatin) member 8 (TRPM8), also known as the cold and menthol receptor 1 (CMR1), is a protein that in humans is encoded by the TRPM8 gene. The TRPM8 channel is the primary molecular transducer of cold somatosensation in humans. In addition, mints can desensitize a region through the activation of TRPM8 receptors.

Transient receptor potential cation channel subfamily M member 3 is a protein that in humans is encoded by the TRPM3 gene.

Transient receptor potential cation channel, subfamily M, member 7, also known as TRPM7, is a human gene encoding a protein of the same name.

Transient receptor potential cation channel subfamily V member 5 is a calcium channel protein that in humans is encoded by the TRPV5 gene.

Mucolipin-2 also known as TRPML2 is a protein that in humans is encoded by the MCOLN2 gene. It is a member of the small family of the TRPML channels, a subgroup of the large protein family of TRP ion channels.

Enkurin is a protein that in humans is encoded by the ENKUR gene.

References

1 2 3 GRCh38: Ensembl release 89: ENSG00000119121 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024727 - Ensembl, May 2017
↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
↑ Schlingmann KP, Weber S, Peters M, et al. (2002). "Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family". Nat. Genet. 31 (2): 166–70. doi:10.1038/ng889. PMID 12032568. S2CID 40990544.

External links

TRPM6+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000119121 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000024727 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[5] Schlingmann KP, Weber S, Peters M, et al. (2002). "Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family". Nat. Genet. 31 (2): 166–70. doi:10.1038/ng889. PMID 12032568. S2CID 40990544.

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TRPM6

Contents

See also

Related Research Articles

References

Further reading

External links