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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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RHBDL2
rhomboid like 2
Chromosome 1 · 1p34.3
NCBI Gene: 54933Ensembl: ENSG00000158315.12HGNC: HGNC:16083UniProt: B7Z1Y9
25PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Protease
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
serine-type endopeptidase activityplasma membranemembraneatrial fibrillationneurodegenerative diseaseAbruptio Placentaecancer
✦AI Summary

RHBDL2 is an intramembrane serine protease that regulates cellular signaling through proteolytic cleavage of transmembrane substrates. The enzyme functions as a proenzyme requiring processing for activation, with a conserved arginine residue in loop 1 being critical for this activation process 1. RHBDL2 cleaves diverse substrates including Notch1, Orai1 calcium channels, thrombomodulin, IL-6 receptor, and various cell adhesion molecules 2345. The protease performs conformational surveillance of Orai1 calcium channels, preventing inappropriate activation and maintaining proper calcium signaling in unstimulated cells 3. In wound healing, RHBDL2 cleaves thrombomodulin to release soluble forms that promote keratinocyte migration and tissue repair 4. Clinically, RHBDL2 is overexpressed in multiple cancers including pancreatic cancer and clear cell renal cell carcinoma, where it promotes proliferation, metastasis, and poor patient outcomes through activation of Notch and Wnt/β-catenin pathways 26. The protease also inhibits cuproptosis-related genes and affects tumor immune microenvironment infiltration 6. These findings establish RHBDL2 as a critical regulator of epithelial homeostasis with significant therapeutic potential in cancer treatment.

Sources cited
1
RHBDL2 requires processing from a proenzyme form for activation, with conserved arginine residue in loop 1 being critical
PMID: 19850051
2
RHBDL2 cleaves Notch1 and promotes pancreatic cancer proliferation and metastasis through Notch signaling activation
PMID: 36351890
3
RHBDL2 performs conformational surveillance of Orai1 calcium channels, preventing inappropriate activation
PMID: 34800360
4
RHBDL2 cleaves thrombomodulin in wound healing, releasing soluble forms that promote keratinocyte migration
PMID: 21833011
5
RHBDL2 cleaves diverse substrates including IL-6 receptor, cell adhesion molecules, and various membrane proteins
PMID: 28779096
6
RHBDL2 is overexpressed in renal cell carcinoma, inhibits cuproptosis-related genes, and affects tumor immune microenvironment
PMID: 39511359
Disease Associationsⓘ20
atrial fibrillationOpen Targets
0.48Moderate
neurodegenerative diseaseOpen Targets
0.22Weak
Abruptio PlacentaeOpen Targets
0.15Weak
cancerOpen Targets
0.08Suggestive
Blackfan-Diamond anemiaOpen Targets
0.08Suggestive
pachyonychia congenitaOpen Targets
0.07Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.07Suggestive
MODYOpen Targets
0.06Suggestive
inosine triphosphatase deficiencyOpen Targets
0.06Suggestive
hereditary persistence of fetal hemoglobin-sickle cell disease syndromeOpen Targets
0.06Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.06Suggestive
Abnormal nasolacrimal system morphologyOpen Targets
0.06Suggestive
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.06Suggestive
Alpha-thalassemia - myelodysplastic syndromeOpen Targets
0.05Suggestive
alpha-thalassemia-myelodysplastic syndromeOpen Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
alpha thalassemia-intellectual disability syndrome type 1Open Targets
0.05Suggestive
Alpha-thalassemia - intellectual disability syndrome linked to chromosome 16Open Targets
0.05Suggestive
triple-negative breast cancerOpen Targets
0.05Suggestive
Autosomal dominant methemoglobinemiaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
NCSTNProtein interaction89%EFNB2Protein interaction88%EFNB3Protein interaction88%PSENENProtein interaction84%APH1AProtein interaction83%PSEN1Protein interaction70%
Tissue Expression6 tissues
Brain
100%
Heart
16%
Ovary
14%
Liver
14%
Bone Marrow
14%
Lung
11%
Gene Interaction Network
Click a node to explore
RHBDL2NCSTNEFNB2EFNB3PSENENAPH1APSEN1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9NX52
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.20LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.80 [0.55–1.20]
RankingsWhere RHBDL2 stands among ~20K protein-coding genes
  • #13,054of 20,598
    Most Researched25
  • #12,608of 17,882
    Most Constrained (LOEUF)1.20
Genes detectedRHBDL2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
RHBDL2 promotes the proliferation, migration, and invasion of pancreatic cancer by stabilizing the N1ICD via the OTUD7B and activating the Notch signaling pathway.
PMID: 36351890
Cell Death Dis · 2022
1.00
2
Quantitative proteomics screen identifies a substrate repertoire of rhomboid protease RHBDL2 in human cells and implicates it in epithelial homeostasis.
PMID: 28779096
Sci Rep · 2017
0.90
3
Conformational surveillance of Orai1 by a rhomboid intramembrane protease prevents inappropriate CRAC channel activation.
PMID: 34800360
Mol Cell · 2021
0.80
4
Rhomboid-like 2 correlated with TME infiltration inhibits cuproptosis-related genes and drives malignant phenotype in clear cell renal cell carcinoma.
PMID: 39511359
Sci Rep · 2024
0.70
5
Functions of rhomboid family protease RHBDL2 and thrombomodulin in wound healing.
PMID: 21833011
J Invest Dermatol · 2011
0.60