TMEM87B gene

transmembrane protein 87B

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

From NCBI Gene:

This gene encodes a protein that may interact with human papillomavirus type 18 E6 oncogene. The protein is also likely to be involved in endosome-to-trans-Golgi network retrograde transport. The gene is expressed in adult and fetal tissues, including brain and heart. This gene is a component of the 2q13 deletion syndrome. Mutations in this gene may be associated with congenital heart defects. [provided by RefSeq, Aug 2016]

From UniProt:

May be involved in retrograde transport from endosomes to the trans-Golgi network (TGN).

From UniProt:

TMEM87B mutations may be involved in restrictive cardiomyopathy (RCM), a rare non-ischemic myocardial disease. RCM is characterized by restrictive ventricular-filling physiology in the presence of normal or reduced diastolic and/or systolic volumes (of 1 or both ventricles), biatrial enlargement, and normal ventricular wall thickness.

Cytogenetic Location: 2q13, which is the long (q) arm of chromosome 2 at position 13

Molecular Location: base pairs 112,055,223 to 112,119,318 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q13, which is the long (q) arm of chromosome 2 at position 13