TRPM6 (transient receptor potential cation channel subfamily M member 6)

2006-10-01  

Identity

HGNC
LOCATION
9q21.13
LOCUSID
ALIAS
CHAK2,HMGX,HOMG,HOMG1,HSH

Other Information

Locus ID:

NCBI: 140803
MIM: 607009
HGNC: 17995
Ensembl: ENSG00000119121

Variants:

dbSNP: 140803
ClinVar: 140803
TCGA: ENSG00000119121
COSMIC: TRPM6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000119121ENST00000359047Q96LV9
ENSG00000119121ENST00000360774Q9BX84
ENSG00000119121ENST00000361255Q9BX84
ENSG00000119121ENST00000449912Q9BX84

Expression (GTEx)

0
1
2
3
4
5

Pathways

PathwaySourceExternal ID
Mineral absorptionKEGGko04978
Mineral absorptionKEGGhsa04978
Transmembrane transport of small moleculesREACTOMER-HSA-382551
Ion channel transportREACTOMER-HSA-983712
Stimuli-sensing channelsREACTOMER-HSA-2672351
TRP channelsREACTOMER-HSA-3295583

References

Pubmed IDYearTitleCitations
120325682002Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family.180
145761482004TRPM6 forms the Mg2+ influx channel involved in intestinal and renal Mg2+ absorption.157
166362022006Functional characterization of homo- and heteromeric channel kinases TRPM6 and TRPM7.153
120325702002Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia.128
149762602004Disruption of TRPM6/TRPM7 complex formation by a mutation in the TRPM6 gene causes hypomagnesemia with secondary hypocalcemia.105
207004432010Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels.76
161506902005The channel kinases TRPM6 and TRPM7 are functionally nonredundant.55
190738272009EGF increases TRPM6 activity and surface expression.41
181922172008Transient receptor potential melastatin 6 and 7 channels, magnesium transport, and vascular biology: implications in hypertension.36
183650212008Massive autophosphorylation of the Ser/Thr-rich domain controls protein kinase activity of TRPM6 and TRPM7.36

Citation

Dessen P

TRPM6 (transient receptor potential cation channel subfamily M member 6)

Atlas Genet Cytogenet Oncol Haematol. 2006-10-01

Online version: http://atlasgeneticsoncology.org/gene/43544/trpm6