RHBDF2 Chromosome 17
Rhomboid 5 homolog 2
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What This Gene Does
Predicted to enable protein transporter activity. Predicted to be involved in negative regulation of protein secretion and regulation of epidermal growth factor receptor signaling pathway. Predicted to act upstream of or within protein localization to plasma membrane and regulation of metalloendopeptidase activity. Located in plasma membrane. Implicated in palmoplantar keratoderma-esophageal carcinoma syndrome. [provided by Alliance of Genome Resources, Apr 2025]
Gene Info
Gene Group
Rhomboid family
Locus Type
gene with protein product
Location
17q25.1
Ensembl
ENSG00000129667
Associated Conditions (3)
Palmoplantar keratoderma-esophageal carcinoma syndrome
RHBDF2-related disorder
Inborn genetic diseases
Key Variants
RS11553545
Conflicting classifications of pathogenicity
Palmoplantar keratoderma-esophageal carcinoma syndrome, RHBDF2-related disorder, Palmoplantar keratoderma-esophageal carcinoma syndrome
Health Risk
RS138667763
Conflicting classifications of pathogenicity
Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome
Health Risk
RS138968491
Conflicting classifications of pathogenicity
Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases, RHBDF2-related disorder
Health Risk
RS140196536
Conflicting classifications of pathogenicity
Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases, Palmoplantar keratoderma-esophageal carcinoma syndrome
Health Risk
RS140433374
Conflicting classifications of pathogenicity
Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome
Health Risk
RS140560049
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS142019309
Conflicting classifications of pathogenicity
Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases, Palmoplantar keratoderma-esophageal carcinoma syndrome
Health Risk
RS143503813
Conflicting classifications of pathogenicity
Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome
Health Risk
RS143672318
Conflicting classifications of pathogenicity
Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases, Palmoplantar keratoderma-esophageal carcinoma syndrome
Health Risk
RS144817869
Conflicting classifications of pathogenicity
Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome
Health Risk
RS145040227
Conflicting classifications of pathogenicity
Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases, Palmoplantar keratoderma-esophageal carcinoma syndrome
Health Risk
RS145136848
Conflicting classifications of pathogenicity
Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases, Palmoplantar keratoderma-esophageal carcinoma syndrome
Health Risk
All Variants (31)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11553545 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, RHBDF2-related disorder, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS138667763 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS138968491 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases, RHBDF2-related disorder |
| RS140196536 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS140433374 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS140560049 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS142019309 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS143503813 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS143672318 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS144817869 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS145040227 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS145136848 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS146134173 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS147599098 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS149436907 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS150723002 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases, RHBDF2-related disorder |
| RS150984603 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS187556554 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS200821841 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS367658130 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS371993070 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS372953205 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS377416669 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS387907130 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS546484250 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS575187651 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS751482282 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS763844221 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS765724768 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS770206566 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome |
| RS387907129 | Health Risk | Pathogenic/Likely pathogenic | Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome |