TMEFF2
Description
The TMEFF2 (transmembrane protein with EGF like and two follistatin like domains 2) is a protein-coding gene located on chromosome 2.
The TMEFF2 gene, located on chromosome 2q32-q33, encodes a 374-amino acid long type-I transmembrane proteoglycan. It is also known as HPP1, Tomoregulin (TR), Transmembrane protein TENB2 (TENB2), Cancer/testis antigen family 120, member 2 (CT120.2), and Transmembrane protein containing EGF and follistatin domains (TPEF). TMEFF2 is shed from the cell surface and has been implicated in various biological processes, including metabolism, neuroprotection, apoptosis, embryonic development, tumor suppression, and endocrine function. The TMEFF2 promoter and its 5'-upstream CpG island are frequently methylated in several cancers. A negative correlation has been observed between TMEFF2 methylation and cancer stage, response to therapy, and survival outcome. The detection of methylated circulating TMEFF2 DNA is a potential diagnostic marker for colorectal cancer. Downregulation of TMEFF2 expression has been linked to glioma, cotricotropinoma, and prostate cancer, where it may play a role in disease progression.
TMEFF2 is also known as CT120.2, HPP1, TENB2, TPEF, TR, TR-2.
Associated Diseases
- essential hypertension
- retinitis pigmentosa
- X-linked retinal dysplasia
- Leber congenital amaurosis
- glioblastoma
- severe early-childhood-onset retinal dystrophy
- reticular dystrophy of the retinal pigment epithelium
- cancer
- retinitis pigmentosa 71
- X-linked retinoschisis
- retinitis pigmentosa 50
