TMEM114 gene

transmembrane protein 114

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

From NCBI Gene:

This gene encodes a glycosylated transmembrane protein that plays a role in lens and eye development. Mutations in this gene, including a t(16;22)(p13.3;q11.2) translocation, are associated with congenital and juvenile cataract disorders. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Feb 2014]

From UniProt:

Chromosomal aberrations involving TMEM114 may be a cause of congenital and juvenile cataracts. Translocation t(16;22) (p13.3;q11.2).

Cytogenetic Location: 16p13.2, which is the short (p) arm of chromosome 16 at position 13.2

Molecular Location: base pairs 8,526,549 to 8,590,193 on chromosome 16 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 16p13.2, which is the short (p) arm of chromosome 16 at position 13.2