TMEM87B Chromosome 2
Transmembrane protein 87B
Upload your DNA to see your personal genotypes for variants in TMEM87B.
What This Gene Does
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]
Gene Info
Gene Group
7TM uncharacterized proteins
Locus Type
gene with protein product
Location
2q13
Ensembl
ENSG00000153214
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS369634007 | Health Risk | Likely pathogenic | — |