transmembrane protein 16E; gnathodiaphyseal dysplasia 1 protein (TMEM16E, GDD1, ANO5)

Compartment

• endoplasmic reticulum
• co-localized with CALR/calreticulin

Expression

• expressed in brain, heart, kidney, lung, skeletal muscle > bone marrow, fetal liver, placenta, spleen, thymus, osteoblasts, periodontal ligament cells

Pathology

• defects in TMEM16E result in gnathodiaphyseal dysplasia

More general terms

• transmembrane 8 protein
• glycoprotein

Database

• OMIM: https://mirror.omim.org/entry/166260
• OMIM: https://mirror.omim.org/entry/608662
• UniProt: http://www.uniprot.org/uniprot/Q75V66.html