AQP5 gene

aquaporin 5

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Forms a water-specific channel (PubMed:8621489, PubMed:18768791). Plays an important role in fluid secretion in salivary glands (By similarity). Required for TRPV4 activation by hypotonicity. Together with TRPV4, controls regulatory volume decrease in salivary epithelial cells (PubMed:16571723). Seems to play a redundant role in water transport in the eye, lung and in sweat glands (By similarity).

From NCBI Gene:

  • Diffuse palmoplantar keratoderma, Bothnian type

From UniProt:

Keratoderma, palmoplantar, Bothnian type (PPKB): A dermatological disorder characterized by diffuse non-epidermolytic hyperkeratosis of the skin of palms and soles. PPKB is frequently complicated by fungal infections. [MIM:600231]

Cytogenetic Location: 12q13.12, which is the long (q) arm of chromosome 12 at position 13.12

Molecular Location: base pairs 49,961,496 to 49,965,682 on chromosome 12 (Homo sapiens Annotation Release 109, GRCh38.p12) (NCBI)

Cytogenetic Location: 12q13.12, which is the long (q) arm of chromosome 12 at position 13.12
  • AQP-5
  • PPKB