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3 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ASB18
ankyrin repeat and SOCS box containing 18
Chromosome 2 · 2q37.2
NCBI Gene: 401036Ensembl: ENSG00000182177.15HGNC: HGNC:19770UniProt: Q6ZVZ8
9PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Swiss-Prot Reviewed
cytosolprotein ubiquitinationintracellular signal transductionintestinal obstructionKeratoconjunctivitis siccaadolescent idiopathic scoliosisplacenta praevia
✦AI Summary

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.

Sources cited
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: 16325183
2
ASB18 harbors germline mutations in patients with lung adenocarcinoma, identified as a candidate gene with potentially pathogenic effects in young never-smokers
PMID: 37197646
3
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.
Disease Associationsⓘ20
intestinal obstructionOpen Targets
0.30Weak
Keratoconjunctivitis siccaOpen Targets
0.30Weak
adolescent idiopathic scoliosisOpen Targets
0.23Weak
placenta praeviaOpen Targets
0.12Weak
immune system diseaseOpen Targets
0.11Weak
schizophreniaOpen Targets
0.07Suggestive
Crigler-Najjar syndrome type 2Open Targets
0.06Suggestive
maple syrup urine disease, mild variantOpen Targets
0.06Suggestive
sarcosinemiaOpen Targets
0.06Suggestive
transient familial neonatal hyperbilirubinemiaOpen Targets
0.05Suggestive
alcohol drinkingOpen Targets
0.05Suggestive
methylmalonic acidemia due to transcobalamin receptor defectOpen Targets
0.05Suggestive
Methylmalonic aciduria due to transcobalamin receptor defectOpen Targets
0.05Suggestive
device complicationOpen Targets
0.04Suggestive
breast carcinomaOpen Targets
0.04Suggestive
gluthathione peroxidase deficiencyOpen Targets
0.04Suggestive
Rotor syndromeOpen Targets
0.04Suggestive
Dubin-Johnson syndromeOpen Targets
0.04Suggestive
pancreatic adenocarcinomaOpen Targets
0.04Suggestive
hypercholanemia, familial, 2Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CAPSShared pathway100%MTCP1Shared pathway100%PPP1R1AShared pathway100%TCL1AShared pathway100%SH3BP5Shared pathway100%TCL1BShared pathway100%
Tissue Expression6 tissues
Heart
100%
Lung
2%
Brain
1%
Ovary
1%
Liver
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ASB18CAPSMTCP1PPP1R1ATCL1ASH3BP5TCL1B
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt Q6ZVZ8
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.76LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.32 [0.99–1.76]
RankingsWhere ASB18 stands among ~20K protein-coding genes
  • #17,268of 20,598
    Most Researched9
  • #16,400of 17,882
    Most Constrained (LOEUF)1.76
Genes detectedASB18
Sources retrieved3 papers
Response time—
📄 Sources
3
1
Identification of Germline Mutations in East-Asian Young Never-Smokers with Lung Adenocarcinoma by Whole-Exome Sequencing.
PMID: 37197646
Phenomics · 2023
1.00
2
Genome-Wide Scan for Parent-of-Origin Effects in a sub-Saharan African Cohort With Nonsyndromic Cleft Lip and/or Cleft Palate (CL/P).
PMID: 34382870
Cleft Palate Craniofac J · 2022
0.67
3
ASB proteins interact with Cullin5 and Rbx2 to form E3 ubiquitin ligase complexes.
PMID: 16325183
FEBS Lett · 2005
0.33