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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RHBDD2
rhomboid domain containing 2
Chromosome 7 · 7q11.23
NCBI Gene: 57414Ensembl: ENSG00000005486.18HGNC: HGNC:23082UniProt: Q6NTF9
62PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
Golgi apparatussignal recognition particle bindingendoplasmic reticulum unfolded protein responseERAD pathwayneurodegenerative diseaseIron deficiency anemiaurinary system diseasebreast cancer
✦AI Summary

RHBDD2 (rhomboid domain containing 2) is a catalytically inactive rhomboid pseudoprotease localized to the Golgi apparatus and endoplasmic reticulum 1. Primary function: RHBDD2 modulates protein trafficking and cell signaling through protein-protein interactions, including binding to WWOX (via its conserved C-terminal LPPY motif) and the UPR master regulator BiP 23. Mechanism: RHBDD2 regulates the unfolded protein response (UPR) pathway and modulates cell proliferation through interaction with signaling proteins. It suppresses expression of UPR genes (ATF6, IRE1, PERK, CHOP, BiP) and inhibits TGFβ/SMAD3 signaling, thereby promoting cell proliferation and migration 42. Disease Relevance: RHBDD2 is markedly overexpressed in advanced-stage breast cancer, colorectal cancer, and cervical cancer, with gene amplification detected in 21% of invasive breast carcinomas 56. High RHBDD2 expression correlates with poor prognosis, decreased survival, and metastasis 5. A homozygous R85H mutation associates with autosomal recessive retinitis pigmentosa 1. Clinical Significance: RHBDD2 overexpression confers chemoresistance to 5-fluorouracil and cisplatin through UPR modulation and elevated drug transporter expression, positioning RHBDD2 as a prognostic biomarker for treatment response prediction 37. MicroRNA-4739 suppression of RHBDD2 restores chemosensitivity, suggesting therapeutic potential 7.

Sources cited
1
RHBDD2 (rhomboid domain containing 2) is a catalytically inactive rhomboid pseudoprotease localized to the Golgi apparatus and endoplasmic reticulum .
PMID: 23386608
2
Disease Relevance: RHBDD2 is markedly overexpressed in advanced-stage breast cancer, colorectal cancer, and cervical cancer, with gene amplification detected in 21% of invasive breast carcinomas , .
PMID: 19616622
3
Clinical Significance: RHBDD2 overexpression confers chemoresistance to 5-fluorouracil and cisplatin through UPR modulation and elevated drug transporter expression, positioning RHBDD2 as a prognostic biomarker for treatment response prediction , .
PMID: 38267862
⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.32Weak
Iron deficiency anemiaOpen Targets
0.26Weak
urinary system diseaseOpen Targets
0.22Weak
breast cancerOpen Targets
0.03Suggestive
SepsisOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
ovarian neoplasmOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
esophageal cancerOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
pancreatic ductal adenocarcinomaOpen Targets
0.01Suggestive
cervical cancerOpen Targets
0.01Suggestive
retinitis pigmentosaOpen Targets
0.01Suggestive
tuberculosisOpen Targets
0.01Suggestive
Chédiak-Higashi syndromeOpen Targets
0.01Suggestive
colorectal carcinomaOpen Targets
0.00Suggestive
breast carcinomaOpen Targets
0.00Suggestive
carcinomaOpen Targets
0.00Suggestive
leukemiaOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ERLEC1Shared pathway50%SERP2Shared pathway50%RNF175Shared pathway50%TMUB1Shared pathway50%SEL1L2Shared pathway50%EDEM3Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Liver
69%
Lung
54%
Ovary
45%
Bone Marrow
45%
Heart
32%
Gene Interaction Network
Click a node to explore
RHBDD2ERLEC1SERP2RNF175TMUB1SEL1L2EDEM3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6NTF9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.13LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.66 [0.41–1.13]
RankingsWhere RHBDD2 stands among ~20K protein-coding genes
  • #7,502of 20,598
    Most Researched62
  • #11,616of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedRHBDD2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
RHBDD2‑WWOX protein interaction during proliferative and differentiated stages in normal and breast cancer cells.
PMID: 34109992
Oncol Rep · 2021
1.00
2
Dynamics of the rhomboid-like protein RHBDD2 expression in mouse retina and involvement of its human ortholog in retinitis pigmentosa.
PMID: 23386608
J Biol Chem · 2013
0.90
3
RHBDD2 overexpression promotes a chemoresistant and invasive phenotype to rectal cancer tumors via modulating UPR and focal adhesion genes.
PMID: 32339641
Biochim Biophys Acta Mol Basis Dis · 2020
0.80
4
RHBDD2: a 5-fluorouracil responsive gene overexpressed in the advanced stages of colorectal cancer.
PMID: 22965880
Tumour Biol · 2012
0.70
5
Rhomboid domain containing 2 (RHBDD2): a novel cancer-related gene over-expressed in breast cancer.
PMID: 19616622
Biochim Biophys Acta · 2009
0.60