InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: ANO5

Summary

InnateDB Protein

IDBP-36122.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

ANO5

Protein Name

anoctamin 5

Synonyms

Species

Homo sapiens

Ensembl Protein

ENSP00000315371

InnateDB Gene

IDBG-36120 (ANO5)

Protein Structure

UniProt Annotation

Function

Does not exhibit calcium-activated chloride channel (CaCC) activity.

Subcellular Localization

Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell membrane. Note=Colocalized with CALR/calreticulin. Shows an intracellular localization according to PubMed:22075693.

Disease Associations

Gnathodiaphyseal dysplasia (GDD) [MIM:166260]: Rare skeletal syndrome characterized by bone fragility, sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients experience frequent bone fractures caused by trivial accidents in childhood; however the fractures heal normally without bone deformity. The jaw lesions replace the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues, including various amounts of cementum-like calcified mass, sometimes causing facial deformities. Patients also have a propensity for jaw infection and often suffer from purulent osteomyelitis-like symptoms, such as swelling of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and exposure of the lesions into the oral cavity. {ECO:0000269PubMed:15124103}. Note=The disease is caused by mutations affecting the gene represented in this entry.Limb-girdle muscular dystrophy 2L (LGMD2L) [MIM:611307]: An autosomal recessive degenerative myopathy characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy. {ECO:0000269PubMed:20096397}. Note=The disease is caused by mutations affecting the gene represented in this entry.Miyoshi muscular dystrophy 3 (MMD3) [MIM:613319]: A late- onset muscular dystrophy characterized by distal muscle weakness of the lower limbs, calf muscle discomfort and weakness, quadriceps atrophy. Muscle weakness and atrophy may be asymmetric. {ECO:0000269PubMed:20096397, ECO:0000269PubMed:22499103}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Highly expressed in brain, heart, kidney, lung, and skeletal muscle. Weakly expressed in bone marrow, fetal liver, placenta, spleen, thymus, osteoblasts and periodontal ligament cells. {ECO:0000269PubMed:15067359, ECO:0000269PubMed:15124103}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 2 experimentally validated interaction(s) in this database.