AQP5 Chromosome 12
Aquaporin 5
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What This Gene Does
Aquaporin 5 (AQP5) is a water channel protein. Aquaporins are a family of small integral membrane proteins related to the major intrinsic protein (MIP or AQP0). Aquaporin 5 plays a role in the generation of saliva, tears and pulmonary secretions. AQP0, AQP2, AQP5, and AQP6 are closely related and all map to 12q13. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Aquaporins
Locus Type
gene with protein product
Location
12q13.12
Ensembl
ENSG00000161798
Associated Conditions (3)
Palmoplantar keratoderma
Bothnian type
AQP5-related disorder
Key Variants
RS147337355
Conflicting classifications of pathogenicity
Health Risk
RS150292051
Conflicting classifications of pathogenicity
Health Risk
RS368292687
Conflicting classifications of pathogenicity
Palmoplantar keratoderma, Bothnian type, Palmoplantar keratoderma
Health Risk
RS374603563
Conflicting classifications of pathogenicity
Health Risk
RS773025827
Conflicting classifications of pathogenicity
AQP5-related disorder, Palmoplantar keratoderma, Bothnian type
Health Risk
RS745563552
Likely pathogenic
Palmoplantar keratoderma, Bothnian type, Palmoplantar keratoderma
Health Risk
RS398123054
Pathogenic
Palmoplantar keratoderma, Bothnian type, Palmoplantar keratoderma
Health Risk
RS398123055
Pathogenic
Palmoplantar keratoderma, Bothnian type, Palmoplantar keratoderma
Health Risk
RS398123056
Pathogenic
Palmoplantar keratoderma, Bothnian type, Palmoplantar keratoderma
Health Risk
RS398123057
Pathogenic
Palmoplantar keratoderma, Bothnian type, Palmoplantar keratoderma
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS147337355 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS150292051 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS368292687 | Health Risk | Conflicting classifications of pathogenicity | Palmoplantar keratoderma, Bothnian type, Palmoplantar keratoderma |
| RS374603563 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS773025827 | Health Risk | Conflicting classifications of pathogenicity | AQP5-related disorder, Palmoplantar keratoderma, Bothnian type |
| RS745563552 | Health Risk | Likely pathogenic | Palmoplantar keratoderma, Bothnian type, Palmoplantar keratoderma |
| RS398123054 | Health Risk | Pathogenic | Palmoplantar keratoderma, Bothnian type, Palmoplantar keratoderma |
| RS398123055 | Health Risk | Pathogenic | Palmoplantar keratoderma, Bothnian type, Palmoplantar keratoderma |
| RS398123056 | Health Risk | Pathogenic | Palmoplantar keratoderma, Bothnian type, Palmoplantar keratoderma |
| RS398123057 | Health Risk | Pathogenic | Palmoplantar keratoderma, Bothnian type, Palmoplantar keratoderma |