PLEKHA7 Chromosome 11
Pleckstrin homology domain containing A7
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What This Gene Does
Enables delta-catenin binding activity. Involved in epithelial cell-cell adhesion; pore complex assembly; and zonula adherens maintenance. Located in several cellular components, including centrosome; nucleoplasm; and zonula adherens. Part of pore complex. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Pleckstrin homology domain containing
Locus Type
gene with protein product
Location
11p15
Ensembl
ENSG00000166689
Associated Conditions (4)
Adrenocortical carcinoma
hereditary
PLEKHA7-related disorder
Cleft lip with or without cleft palate
Key Variants
RS952337506
Conflicting classifications of pathogenicity
Adrenocortical carcinoma, hereditary, Adrenocortical carcinoma
Health Risk
RS1440223488
Likely pathogenic
PLEKHA7-related disorder, PLEKHA7-related disorder
Health Risk
RS1849496525
Likely pathogenic
Cleft lip with or without cleft palate, Cleft lip with or without cleft palate
Health Risk
RS201543002
Likely pathogenic
Cleft lip with or without cleft palate, Cleft lip with or without cleft palate
Health Risk
RS768861538
Likely pathogenic
Cleft lip with or without cleft palate, Cleft lip with or without cleft palate
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS952337506 | Health Risk | Conflicting classifications of pathogenicity | Adrenocortical carcinoma, hereditary, Adrenocortical carcinoma |
| RS1440223488 | Health Risk | Likely pathogenic | PLEKHA7-related disorder, PLEKHA7-related disorder |
| RS1849496525 | Health Risk | Likely pathogenic | Cleft lip with or without cleft palate, Cleft lip with or without cleft palate |
| RS201543002 | Health Risk | Likely pathogenic | Cleft lip with or without cleft palate, Cleft lip with or without cleft palate |
| RS768861538 | Health Risk | Likely pathogenic | Cleft lip with or without cleft palate, Cleft lip with or without cleft palate |