InnateDB Protein
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IDBP-71270.6
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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TRPM6
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Protein Name
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transient receptor potential cation channel, subfamily M, member 6
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Synonyms
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000354962
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InnateDB Gene
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IDBG-71268 (TRPM6)
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Protein Structure
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Function |
Essential ion channel and serine/threonine-protein kinase. Crucial for magnesium homeostasis. Has an important role in epithelial magnesium transport and in the active magnesium absorption in the gut and kidney. Isoforms of the type M6-kinase lack the ion channel region.
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Subcellular Localization |
Membrane; Multi-pass membrane protein.
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Disease Associations |
Hypomagnesemia 1 (HOMG1) [MIM:602014]: A disorder due to a primary defect in intestinal magnesium absorption. It is characterized by low levels of serum magnesium alongside with a normal renal magnesium secretion, secondary hypocalcemia and calcinocis. Affected individuals show neurologic symptoms of hypomagnesemic hypocalcemia, including seizures and muscle spasms, during infancy. Hypocalcemia is secondary to parathyroid failure resulting from magnesium deficiency. Untreated, the disorder may be fatal or may result in neurological damage. {ECO:0000269PubMed:12032568}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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Tissue Specificity |
Highly expressed in kidney and colon. Isoform TRPM6a and isoform TRPM6b, are coexpressed with TRPM7 in kidney, and testis, and are also found in several cell lines of lung origin. Isoform TRPM6c is detected only in testis and in NCI-H510A small cell lung carcinoma cells.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
6
[view]
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Protein-Protein |
6
[view]
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Protein-DNA |
0
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
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Cellular Component |
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PDB ID |
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InterPro |
IPR004166
MHCK/EF2 kinase
IPR005821
Ion transport domain
IPR011009
Protein kinase-like domain
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PFAM |
PF02816
PF00520
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PRINTS |
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PIRSF |
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SMART |
SM00811
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TIGRFAMs |
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Modification |
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SwissProt |
Q9BX84
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PhosphoSite |
PhosphoSite-Q9BX84
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
140803
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UniGene |
Hs.272225
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RefSeq |
NP_001170782
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HUGO |
HGNC:17995
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OMIM |
607009
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CCDS |
CCDS55318
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HPRD |
06112
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IMGT |
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EMBL |
AF350881
AF448232
AL354795
AY333282
AY333283
AY333284
AY333285
AY333286
AY333287
AY333288
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GenPept |
AAK31202
AAM21562
AAR03487
AAR03488
AAR03489
AAR03490
AAR03491
AAR03492
AAR03493
CAH70894
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