Target intelligence / Profile preview

Rhomboid domain-containing protein 2 (RHBDD2)

Target
RHBDD2
Molecular classification
Rhomboid-like protein, Integral membrane protein, Member of the rhomboid superfamily (likely a pseudoprotease/inactive rhomboid)
01

Overview

Rhomboid domain-containing protein 2 (RHBDD2) is an integral membrane protein and a member of the rhomboid superfamily, considered to be a rhomboid-like or pseudoprotease due to uncertain or absent protease activity[1][4]. RHBDD2 is mainly localized to the Golgi apparatus and perinuclear regions of various cells, where it is implicated in trafficking and turnover of membrane proteins, potentially influencing secretory and sorting processes via a conserved glycine zipper motif[2]. RHBDD2 is widely expressed, with particular abundance in developing and proliferating tissues, such as the retina and mammary gland[1][2]. Overexpression of RHBDD2 is frequently observed in advanced breast cancers, particularly ER-negative tumors, where it is associated with poor prognosis and increased proliferation[3][4]. Mutations in RHBDD2 have been linked to inherited retinal degenerative disorders (e.g., retinitis pigmentosa)[2]. Current research suggests RHBDD2 modulates signaling pathways related to tumor progression and possibly the unfolded protein response, but no direct drug modulators are in clinical use or late-stage development as of the latest reports[3][4].

Other names
RHBDL7NPD007rhomboid domain-containing protein 2rhomboid, veinlet-like 7RHBDD2
02

Biological functions

Modulation of protein trafficking and turnover[1]Possible role in endosomal sorting or early secretory pathway (Golgi apparatus involvement)[2]Involvement in TGFβ signaling pathway via interaction with WWOX[1]Possible participation in unfolded protein response (UPR)[3]
03

Disease associations

Cancer (notably breast cancer, including as an indicator of poor prognosis and linked to progression in ER-negative breast carcinomas)[1][3][4]Retinal disease (autosomal recessive retinitis pigmentosa via mutation)[2]
04

Safety considerations

No specific on-target safety or toxicity concerns reported; potential therapeutic challenges include determining essential functions in normal tissues and avoiding effects on retinal or secretory pathways[2][4]
05

Biomarkers

High RHBDD2 expression as a poor prognosis indicator in breast cancer (especially ER-negative types)[4]Homozygous R85H mutation in RHBDD2 as a genetic marker in retinitis pigmentosa[2]

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