3 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY✓ Swiss-Prot Reviewed
cytosolprotein ubiquitinationintracellular signal transductionintestinal obstructionKeratoconjunctivitis siccaadolescent idiopathic scoliosisplacenta praevia
ASB18 (ankyrin repeat and SOCS box containing 18) is a cytosolic protein that functions as a substrate-recognition component of an E3 ubiquitin-protein ligase complex. ASB18 interacts with Cullin5 and Rbx2 through conserved BC box and Cullin5 box sequences within its SOCS box domain to form a functional E3 ubiquitin ligase complex capable of ubiquitinating target proteins for proteasomal degradation 1. The protein belongs to the 18-member ASB family of SOCS box-containing proteins, all of which display similar interactions with the Cul5-Rbx2 module 1.
Clinically, ASB18 has been identified as a candidate gene harboring germline mutations potentially associated with genetic predisposition to lung adenocarcinoma in young never-smokers, with mutations detected in at least two patients in an East-Asian cohort 2. Additionally, ASB18 was identified in a genome-wide parent-of-origin effects study as a candidate locus that may increase risk for nonsyndromic cleft lip and/or cleft palate (NSCL/P) through differential parental allele contributions 3. These disease associations suggest ASB18's potential involvement in developmental and oncogenic processes, though further functional characterization is needed to establish definitive mechanistic roles in these conditions.
1
ASB proteins including ASB18 interact with Cul5-Rbx2 to form functional E3 ubiquitin ligase complexes through conserved BC box and Cullin5 box sequences
PMID: 163251832
ASB18 harbors germline mutations in patients with lung adenocarcinoma, identified as a candidate gene with potentially pathogenic effects in young never-smokers
PMID: 371976463
ASB18 identified as a candidate locus showing possible parent-of-origin effects associated with increased risk for nonsyndromic cleft lip and/or cleft palate
PMID: 34382870⚠Limited data available — This gene has 3 indexed publications. Summary and analysis may be incomplete.
intestinal obstructionOpen Targets
Keratoconjunctivitis siccaOpen Targets
adolescent idiopathic scoliosisOpen Targets
placenta praeviaOpen Targets
immune system diseaseOpen Targets
schizophreniaOpen Targets
Crigler-Najjar syndrome type 2Open Targets
maple syrup urine disease, mild variantOpen Targets
transient familial neonatal hyperbilirubinemiaOpen Targets
alcohol drinkingOpen Targets
methylmalonic acidemia due to transcobalamin receptor defectOpen Targets
Methylmalonic aciduria due to transcobalamin receptor defectOpen Targets
device complicationOpen Targets
breast carcinomaOpen Targets
gluthathione peroxidase deficiencyOpen Targets
Rotor syndromeOpen Targets
Dubin-Johnson syndromeOpen Targets
pancreatic adenocarcinomaOpen Targets
hypercholanemia, familial, 2Open Targets
No pathogenic variants reported on ClinVar for this gene.