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Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
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140803
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Gene name
Gene Name - the full gene name approved by the HGNC.
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Transient receptor potential cation channel subfamily M member 6 |
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Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
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TRPM6 |
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Synonyms (NCBI Gene)
Gene synonyms aliases
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CHAK2, HMGX, HOMG, HOMG1, HSH |
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Chromosome
Chromosome number
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9 |
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Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
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9q21.13 |
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Summary
Summary of gene provided in NCBI Entrez Gene.
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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 |
| UniProt ID |
Q9BX84
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| Protein name |
Transient receptor potential cation channel subfamily M member 6 (EC 2.7.11.1) (Channel kinase 2) (Melastatin-related TRP cation channel 6) [Cleaved into: TRPM6 kinase, cleaved form] |
| Protein function |
Bifunctional protein that combines an ion channel with an intrinsic kinase domain, enabling it to modulate cellular functions either by conducting ions through the pore or by phosphorylating downstream proteins via its kinase domain (PubMed:1457 |
| Family and domains |
Pfam
| Accession |
ID |
Position in sequence |
Description |
Type |
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PF18139
|
LSDAT_euk |
109 → 372 |
SLOG in TRPM |
Family |
|
PF00520
|
Ion_trans |
841 → 1081 |
Ion transport protein |
Family |
|
PF16519
|
TRPM_tetra |
1170 → 1225 |
Tetramerisation domain of TRPM |
Domain |
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PF02816
|
Alpha_kinase |
1775 → 1972 |
Alpha-kinase family |
Family |
|
| Tissue specificity |
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-H5 |
| Sequence |
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| Sequence length |
2022 |
| Interactions |
View interactions
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Causal
Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
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| Disease merge term |
Disease name |
dbSNP ID |
References |
| Intestinal Hypomagnesemia |
Intestinal hypomagnesemia 1 |
rs1114167360, rs121912622, rs1587538382, rs1587520094, rs1587522206, rs121912623, rs121912624, rs1587543641, rs121912625, rs869025214, rs1060499646 |
N/A |
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Unknown
Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
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| Disease merge term |
Disease name |
Evidence |
References |
Source |
| Alzheimer disease |
Alzheimer's disease or family history of Alzheimer's disease |
N/A |
N/A |
GWAS |
| Schizophrenia |
Schizophrenia |
N/A |
N/A |
GWAS |
|
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Associations from Text Mining
Disease associations identified through Pubtator
|
| Disease Name |
Relationship Type |
References |
| Atrial Fibrillation |
Stimulate
|
28839241 |
| Attention Deficit Disorder with Hyperactivity |
Associate
|
33565749 |
| Chromosome 9 duplication 9q21 |
Associate
|
37239476 |
| Colorectal Neoplasms |
Associate
|
21352556 |
| Compassion Fatigue |
Associate
|
24650431, 27624449, 35561741 |
| Diabetes Gestational |
Associate
|
22733750 |
| Diabetes Mellitus Type 2 |
Associate
|
19149903, 22733750 |
| Epileptic Syndromes |
Associate
|
31448104 |
| Hypocalcemia |
Associate
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22180838, 23942199, 30144020, 32302086 |
| Hypomagnesemia 1 Intestinal |
Associate
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22180838, 23942199, 26759217, 30144020, 33565749, 34012148 |
| Hypomagnesemia primary |
Associate
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26813946, 32302086 |
| Intellectual Disability |
Associate
|
33565749 |
| Intracranial Hemorrhage Hypertensive |
Inhibit
|
21957871 |
| Learning Disabilities |
Associate
|
33565749 |
| Myocardial Ischemia |
Stimulate
|
34326388 |
| Neoplasms |
Associate
|
21352556 |
| Neuroblastoma |
Associate
|
25277194 |
| Prehypertension |
Associate
|
29256407 |
| Pulmonary Disease Chronic Obstructive |
Associate
|
37650285 |
|