Varaico: Literature-Extracted Genetic Variants

Gene:CNNM2
Variant:p.T568I
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CNNM2

NM_017649.5:p.T568I

Associated Papers

The cytoplasmic domains of the CNNM family of transmembrane proteins modulate the ion channel-kinase TRPM7.

Tetteh S et al.

The Journal of Biological Chemistry, 2025

New insights into the structure and function of CNNM proteins.

Chen YS et al.

The Febs Journal, 2023

Structural insights into regulation of CNNM-TRPM7 divalent cation uptake by the small GTPase ARL15.

Mahbub L et al.

Elife, 2023

37449820 (PubMed )
Supplement: elife-86129-fig2-data3.pdf

Rare hypomagnesemia, seizures, and mental retardation in a 4-month-old patient caused by novel CNNM2 mutation Tyr189Cys: Genetic analysis and review.

Xu X et al.

Molecular Genetics & Genomic Medicine, 2022

35170241 (PubMed )
Supplement: MGG3-10-e1898-s001.xlsx › Sheet1

Novel CNNM2 Mutation Responsible for Autosomal-Dominant Hypomagnesemia With Seizure.

Tseng MH et al.

Frontiers in Genetics, 2022

CNNM proteins selectively bind to the TRPM7 channel to stimulate divalent cation entry into cells.

Bai Z et al.

Plos Biology, 2021

Crystal structure of an archaeal CorB magnesium transporter.

Chen YS et al.

Nature Communications, 2021

Structural basis for the Mg2+ recognition and regulation of the CorC Mg2+ transporter.

Huang Y et al.

Science Advances, 2021

Case Report: CNNM2 Mutations Cause Damaged Brain Development and Intractable Epilepsy in a Patient Without Hypomagnesemia.

Li X et al.

Frontiers in Genetics, 2021

CNNM2-Related Disorders: Phenotype and Its Severity Were Associated With the Mode of Inheritance.

Zhang H et al.

Frontiers in Pediatrics, 2021

Magnesium efflux from Drosophila Kenyon cells is critical for normal and diet-enhanced long-term memory.

Wu Y et al.

Elife, 2020

Mg2+-ATP Sensing in CNNM, a Putative Magnesium Transporter.

Chen YS et al.

Structure (london, England : 1993), 2020

Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Singh R et al.

Plos One, 2020

32492030 (PubMed )
Supplement: pone.0233058.s001.xlsx › RADS7

Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.

García-Castaño A et al.

Plos One, 2020

Structural Insights into the Intracellular Region of the Human Magnesium Transport Mediator CNNM4.

Giménez-Mascarell P et al.

International Journal of Molecular Sciences, 2019

Learning Physiology From Inherited Kidney Disorders.

van der Wijst J et al.

Physiological Reviews, 2019

CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.

Accogli A et al.

European Journal of Medical Genetics, 2019

Novel Aspects of Renal Magnesium Homeostasis.

Giménez-Mascarell P et al.

Frontiers in Pediatrics, 2018

Structural Basis of the Oncogenic Interaction of Phosphatase PRL-1 with the Magnesium Transporter CNNM2.

Giménez-Mascarell P et al.

The Journal of Biological Chemistry, 2017

Inhibition of PRL-2·CNNM3 Protein Complex Formation Decreases Breast Cancer Proliferation and Tumor Growth.

Kostantin E et al.

The Journal of Biological Chemistry, 2016

Nucleotide binding triggers a conformational change of the CBS module of the magnesium transporter CNNM2 from a twisted towards a flat structure.

Corral-Rodríguez MÁ et al.

The Biochemical Journal, 2014

Mg2+-dependent interactions of ATP with the cystathionine-β-synthase (CBS) domains of a magnesium transporter.

Hirata Y et al.

The Journal of Biological Chemistry, 2014

CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.

Arjona FJ et al.

Plos Genetics, 2014

Purification, crystallization and preliminary crystallographic analysis of the CBS-domain pair of cyclin M2 (CNNM2).

Gómez-García I et al.

Acta Crystallographica. Section F, Structural Biology and Crystallization Communications, 2012

Membrane topology and intracellular processing of cyclin M2 (CNNM2).

de Baaij JH et al.

The Journal of Biological Chemistry, 2012

CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia.

Stuiver M et al.

American Journal of Human Genetics, 2011

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