TRPM6

Chr 9q21.13

transient receptor potential cation channel subfamily M member 6

Aliases:: CHAK2, FLJ22628
MANE:: ENST00000360774.6

OMIM: 607009 ↗NCBI: 140803 ↗Ensembl ↗

Annotations refreshed 10 hours ago.

Predicted protein structure

AlphaFold predicted structure

TRPM6 · Q9BX84

v62025-08-01

Predicted Aligned Error matrix for TRPM6 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

64.6/ 100

Low

2,022 residues

Confidence breakdown

Very high(≥ 90)12%
Confident(70–90)45%
Low(50–70)9%
Very low(< 50)34%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal
Likely inborn error of metabolism
BIALLELIC, autosomal or pseudoautosomal
Renal tubulopathies
BIALLELIC, autosomal or pseudoautosomal
Undiagnosed metabolic disorders
BIALLELIC, autosomal or pseudoautosomal
Childhood onset dystonia, chorea or related movement disorder
Nephrocalcinosis or nephrolithiasis
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

intestinal hypomagnesemia 1
0.78
Primary hypomagnesemia with secondary hypocalcemia
0.72
hereditary disease
0.42
nephrolithiasis
0.36
bladder calculus
0.35
cervical carcinoma
0.34
alcohol drinking
0.33
Hypomagnesemia
0.30
neurodegenerative disease
0.27
vascular dementia
0.27

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Transient receptor potential cation channel subfamily M member 6

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:14576148, PubMed:16636202, PubMed:18258429, PubMed:18365021). Crucial for Mg(2+) homeostasis. Has an important role in epithelial Mg(2+) transport and in the active Mg(2+) absorption in the gut and kidney (PubMed:14576148). However, whether TRPM6 forms functional homomeric channels by itself or functions primarily as a subunit of heteromeric TRPM6-TRPM7 channels, is still under debate (PubMed:14576148, PubMed:16636202, PubMed:24385424)