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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ELMOD2
ELMO domain containing 2
Chromosome 4 · 4q31.1
NCBI Gene: 255520Ensembl: ENSG00000179387.11HGNC: HGNC:28111UniProt: Q8IZ81
27PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
GTPase activator activityregulation of defense response to virusmembranefungal infectious diseasemajor depressive disorderglioblastoma multiformehemoglobin D disease
✦AI Summary

ELMOD2 (ELMO domain containing 2) is a GTPase-activating protein (GAP) with broad specificity for ARF family GTPases, including ARL2, ARL3, ARF1, and ARF6 1. The protein functions as a critical regulator of multiple cellular processes through its GAP activity and effector functions. ELMOD2 acts downstream of ARL2 to promote mitochondrial fusion in a mitofusin-dependent manner, regulating mitochondrial morphology and dynamics 2. In ciliogenesis, ELMOD2 works with ARL2 and Rootletin in a common pathway that suppresses spurious ciliation and maintains centrosome cohesion, acting downstream of TTBK2 and upstream of CP110 1. The protein also regulates lipid metabolism by controlling adipose triglyceride lipase (ATGL) recruitment to lipid droplets through modulation of Arf1-COPI activity, requiring palmitoylation for proper localization 3. Additionally, ELMOD2 regulates antiviral responses by controlling TLR3-dependent expression of type I and III interferons in epithelial cells and macrophages 4. In reproductive biology, ELMOD2 is essential for meiotic progression in mouse oocytes, regulating mitochondrial dynamics and ATP levels 5. Clinical relevance includes associations with idiopathic pulmonary fibrosis, alcohol-associated liver disease, and glioma progression, where overexpression correlates with adverse outcomes 467.

Sources cited
1
ELMOD2 is a GAP with broad specificity for ARF family GTPases and regulates ciliogenesis through ARL2 and Rootletin pathway
PMID: 33596093
2
ELMOD2 acts downstream of ARL2 to promote mitochondrial fusion in a mitofusin-dependent manner
PMID: 30865555
3
ELMOD2 regulates ATGL recruitment to lipid droplets through Arf1-COPI activity modulation and requires palmitoylation
PMID: 25904333
4
ELMOD2 regulates antiviral responses through TLR3-dependent interferon expression and is implicated in IPF
PMID: 19966137
5
ELMOD2 is essential for meiotic progression in oocytes by regulating mitochondrial dynamics
PMID: 28324667
6
ELMOD2 is associated with alcohol-associated liver disease pathogenesis
PMID: 39969435
7
ELMOD2 overexpression in gliomas correlates with adverse outcomes and tumor progression
PMID: 40397299
Disease Associationsⓘ20
fungal infectious diseaseOpen Targets
0.29Weak
major depressive disorderOpen Targets
0.06Suggestive
glioblastoma multiformeOpen Targets
0.04Suggestive
hemoglobin D diseaseOpen Targets
0.04Suggestive
gliomaOpen Targets
0.03Suggestive
hypertriglyceridemia 2Open Targets
0.03Suggestive
Combined hyperlipidemiaOpen Targets
0.03Suggestive
Hemoglobin E - beta-thalassemiaOpen Targets
0.03Suggestive
hemoglobin E-beta-thalassemia syndromeOpen Targets
0.03Suggestive
hemoglobin E diseaseOpen Targets
0.03Suggestive
liver diseaseOpen Targets
0.02Suggestive
alcohol drinkingOpen Targets
0.02Suggestive
idiopathic pulmonary fibrosisOpen Targets
0.02Suggestive
infectious meningitisOpen Targets
0.02Suggestive
cervical carcinomaOpen Targets
0.02Suggestive
retinal vascular disorderOpen Targets
0.02Suggestive
neoplasmOpen Targets
0.01Suggestive
glioblastomaOpen Targets
0.01Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
SFTPA2Protein interaction79%ELMOD1Co-mentioned in literature20%
Tissue Expression6 tissues
Heart
100%
Liver
86%
Bone Marrow
69%
Ovary
58%
Brain
55%
Lung
49%
Gene Interaction Network
Click a node to explore
ELMOD2SFTPA2ELMOD1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q8IZ81
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.88LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.61 [0.43–0.88]
RankingsWhere ELMOD2 stands among ~20K protein-coding genes
  • #12,555of 20,598
    Most Researched27
  • #7,841of 17,882
    Most Constrained (LOEUF)0.88
Genes detectedELMOD2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Roles for ELMOD2 and Rootletin in ciliogenesis.
PMID: 33596093
Mol Biol Cell · 2021
1.00
2
ELMOD2 regulates mitochondrial fusion in a mitofusin-dependent manner, downstream of ARL2.
PMID: 30865555
Mol Biol Cell · 2019
0.90
3
The ARF GAPs ELMOD1 and ELMOD3 act at the Golgi and cilia to regulate ciliogenesis and ciliary protein traffic.
PMID: 34818063
Mol Biol Cell · 2022
0.80
4
ELMOD2, a candidate gene for idiopathic pulmonary fibrosis, regulates antiviral responses.
PMID: 19966137
FASEB J · 2010
0.70
5
GTPase-activating protein Elmod2 is essential for meiotic progression in mouse oocytes.
PMID: 28324667
Cell Cycle · 2017
0.60