MAGI2 Chromosome 7
Membrane associated guanylate kinase, WW and PDZ domain containing 2
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What This Gene Does
The protein encoded by this gene interacts with atrophin-1. Atrophin-1 contains a polyglutamine repeat, expansion of which is responsible for dentatorubral and pallidoluysian atrophy. This encoded protein is characterized by two WW domains, a guanylate kinase-like domain, and multiple PDZ domains. It has structural similarity to the membrane-associated guanylate kinase homologue (MAGUK) family. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Membrane associated guanylate kinases|PDZ domain containing"
Locus Type
gene with protein product
Location
7q21.11
Ensembl
ENSG00000187391
Associated Conditions (3)
Nephrotic syndrome 15
MAGI2-related disorder
Malignant tumor of urinary bladder
Key Variants
RS1294387014
Conflicting classifications of pathogenicity
Health Risk
RS142555732
Conflicting classifications of pathogenicity
Health Risk
RS142565220
Conflicting classifications of pathogenicity
Nephrotic syndrome 15, Nephrotic syndrome 15
Health Risk
RS144078604
Conflicting classifications of pathogenicity
Health Risk
RS144574076
Conflicting classifications of pathogenicity
MAGI2-related disorder, MAGI2-related disorder
Health Risk
RS145925666
Conflicting classifications of pathogenicity
Nephrotic syndrome 15, Nephrotic syndrome 15
Health Risk
RS148086431
Conflicting classifications of pathogenicity
Health Risk
RS148240352
Conflicting classifications of pathogenicity
MAGI2-related disorder, MAGI2-related disorder
Health Risk
RS148580718
Conflicting classifications of pathogenicity
MAGI2-related disorder, MAGI2-related disorder
Health Risk
RS149568072
Conflicting classifications of pathogenicity
Nephrotic syndrome 15, MAGI2-related disorder, Nephrotic syndrome 15
Health Risk
RS188293910
Conflicting classifications of pathogenicity
Malignant tumor of urinary bladder, Malignant tumor of urinary bladder
Health Risk
RS201057526
Conflicting classifications of pathogenicity
Nephrotic syndrome 15, Nephrotic syndrome 15
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1294387014 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142555732 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS142565220 | Health Risk | Conflicting classifications of pathogenicity | Nephrotic syndrome 15, Nephrotic syndrome 15 |
| RS144078604 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS144574076 | Health Risk | Conflicting classifications of pathogenicity | MAGI2-related disorder, MAGI2-related disorder |
| RS145925666 | Health Risk | Conflicting classifications of pathogenicity | Nephrotic syndrome 15, Nephrotic syndrome 15 |
| RS148086431 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148240352 | Health Risk | Conflicting classifications of pathogenicity | MAGI2-related disorder, MAGI2-related disorder |
| RS148580718 | Health Risk | Conflicting classifications of pathogenicity | MAGI2-related disorder, MAGI2-related disorder |
| RS149568072 | Health Risk | Conflicting classifications of pathogenicity | Nephrotic syndrome 15, MAGI2-related disorder, Nephrotic syndrome 15 |
| RS188293910 | Health Risk | Conflicting classifications of pathogenicity | Malignant tumor of urinary bladder, Malignant tumor of urinary bladder |
| RS201057526 | Health Risk | Conflicting classifications of pathogenicity | Nephrotic syndrome 15, Nephrotic syndrome 15 |
| RS587780386 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS587780389 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS751956751 | Health Risk | Conflicting classifications of pathogenicity | Nephrotic syndrome 15, Nephrotic syndrome 15 |
| RS765541438 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS773082728 | Health Risk | Conflicting classifications of pathogenicity | Nephrotic syndrome 15, Nephrotic syndrome 15 |
| RS2129210679 | Health Risk | Likely pathogenic | Nephrotic syndrome 15, Nephrotic syndrome 15 |
| RS1135402911 | Health Risk | Pathogenic | Nephrotic syndrome 15, Nephrotic syndrome 15 |
| RS1135402912 | Health Risk | Pathogenic | Nephrotic syndrome 15, Nephrotic syndrome 15 |
| RS1135402913 | Health Risk | Pathogenic | Nephrotic syndrome 15, Nephrotic syndrome 15 |
| RS2538158626 | Health Risk | Pathogenic | — |