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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DERL2
derlin 2
Chromosome 17 · 17p13.2
NCBI Gene: 51009Ensembl: ENSG00000072849.11HGNC: HGNC:17943UniProt: I3L3R8
75PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
signal recognition particle bindingprotein bindingprotein-containing complex bindingnegative regulation of retrograde protein transport, ER to cytosolcystic fibrosisholoprosencephalyneurodegenerative diseaseeye disease
✦AI Summary

DERL2 (derlin 2) is an endoplasmic reticulum (ER) membrane protein that functions as a critical component of the ER-associated degradation (ERAD) pathway. Unlike its homolog DERL1, DERL2 is not involved in degradation of MHC class I heavy chains during cytomegalovirus infection. DERL2 operates within the ERAD machinery by facilitating retrotranslocation of misfolded proteins from the ER to the cytosol for proteasomal degradation 1. The protein contains functionally important domains: an N-terminal region (88 amino acids) and a second ER-luminal loop that are required for certain toxin-mediated pathways 2. DERL2 expression is regulated by the minor spliceosome component SCNM1 3, and its transcription is affected in several disease contexts. In hepatocellular carcinoma, elevated DERL2 expression correlates with poor prognosis and promotes tumor growth by stabilizing BAG6, a pro-survival protein 4. DERL2 has been identified as an endoplasmic reticulum stress biomarker in coronary artery disease 5 and shares genetic variants associated with schizophrenia and body mass index comorbidity 6. These findings establish DERL2 as a multifunctional ERAD component with implications in protein quality control, cancer progression, and complex disease pathogenesis.

Sources cited
1
DERL2 is recruited to the HRD1-SEL1L complex and is required for efficient ERAD-mediated retrotranslocation and degradation of ER misfolded proteins
PMID: 24366871
2
DERL2, along with HRD1 and p97, is required for cytolethal distending toxin intoxication; contains functionally important N-terminal region and second ER-luminal loop
PMID: 25078082
3
DERL2 expression is severely reduced in SCNM1-deficient cells; SCNM1 regulates DERL2 through minor intron splicing
PMID: 36084634
4
DERL2 is highly expressed in cholangiocarcinoma, promotes cell proliferation, and stabilizes BAG6 protein to enhance chemotherapy resistance
PMID: 37815698
5
DERL2 is identified as an endoplasmic reticulum stress-related biomarker in coronary artery disease with diagnostic significance
PMID: 39742022
6
DERL2 is identified as a gene shared between schizophrenia and body mass index genetic variants
PMID: 36008755
7
DERL2 is a hepatosplenic T-cell lymphoma cell line used to study molecular pathogenesis of this rare T-cell malignancy
PMID: 22510872
Disease Associationsⓘ20
cystic fibrosisOpen Targets
0.46Moderate
holoprosencephalyOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.41Moderate
eye diseaseOpen Targets
0.06Suggestive
digestive system neoplasmOpen Targets
0.05Suggestive
male infertilityOpen Targets
0.05Suggestive
Chorioretinal scarOpen Targets
0.04Suggestive
smoking initiationOpen Targets
0.03Suggestive
connective tissue diseaseOpen Targets
0.03Suggestive
cancerOpen Targets
0.03Suggestive
biliary tract diseaseOpen Targets
0.03Suggestive
cholangiocarcinomaOpen Targets
0.03Suggestive
tricuspid valve diseaseOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.02Suggestive
placental retentionOpen Targets
0.02Suggestive
infectionOpen Targets
0.02Suggestive
Charcot-Marie-Tooth disease type 1BOpen Targets
0.02Suggestive
HypercholesterolemiaOpen Targets
0.02Suggestive
neuropathyOpen Targets
0.02Suggestive
gliomaOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SYVN1Protein interaction100%FAF2Protein interaction100%AMFRProtein interaction100%VCPProtein interaction99%AUP1Protein interaction99%UBE2J1Protein interaction96%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
81%
Ovary
47%
Lung
41%
Brain
35%
Heart
33%
Gene Interaction Network
Click a node to explore
DERL2SYVN1FAF2AMFRVCPAUP1UBE2J1
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q9GZP9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.80LoF Tolerant
pLIⓘ
0.33Tolerant
Observed/Expected LoF0.41 [0.22–0.80]
RankingsWhere DERL2 stands among ~20K protein-coding genes
  • #6,322of 20,598
    Most Researched75
  • #6,669of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedDERL2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.
PMID: 36084634
Am J Hum Genet · 2022
1.00
2
Cytolethal distending toxins require components of the ER-associated degradation pathway for host cell entry.
PMID: 25078082
PLoS Pathog · 2014
0.90
3
Clinical and Biological Significance of Sodium Channel Modifier 1 as a Component of the Minor Spliceosome in Hepatocellular Carcinoma.
PMID: 40172715
Ann Surg Oncol · 2025
0.80
4
Identification of Endoplasmic Reticulum Stress-Related Biomarkers in Coronary Artery Disease.
PMID: 39742022
Cardiovasc Ther · 2024
0.70
5
Role of HERP and a HERP-related protein in HRD1-dependent protein degradation at the endoplasmic reticulum.
PMID: 24366871
J Biol Chem · 2014
0.60