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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ASB2
ankyrin repeat and SOCS box containing 2
Chromosome 14 · 14q32.12
NCBI Gene: 51676Ensembl: ENSG00000100628.13HGNC: HGNC:16012UniProt: Q96Q27
44PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
ubiquitin protein ligase activityprotein bindingcullin family protein bindingprotein ubiquitinationspina bifidaalcohol drinkingexostosisself-injurious ideation
✦AI Summary

ASB2 (ankyrin repeat and SOCS box containing 2) is an E3 ubiquitin ligase that regulates protein degradation through the proteasome-mediated pathway. Its primary function is targeting filamin A (FLNA) and filamin B (FLNB) for proteasomal degradation 1, with secondary substrates including SMAD9 2. ASB2-mediated filamin degradation promotes actin cytoskeleton remodeling essential for multiple cellular processes: hematopoietic cell adhesion to fibronectin, dendritic cell migration through podosome formation, and NK cell migration 3. In cardiogenesis, ASB2 is critical for embryonic survival and proper heart development; Asb2 deletion causes congenital double outlet right ventricle (DORV) through FLNA accumulation and dysregulated TGFβ/Smad signaling 4. ASB2 also regulates BMP signaling by degrading SMAD9, with developmental importance demonstrated in zebrafish cardiac models 2. Disease relevance includes acute myeloid leukemia, where ASB2 expression is repressed by BCL11A, promoting malignant progression 5, and where FTO-mediated m6A demethylation affects ASB2 mRNA levels 6. ASB2 represents a therapeutic target in cancer and developmental heart disease, with potential clinical applications in immunotherapy and leukemia treatment.

Sources cited
1
ASB2 is an E3 ubiquitin ligase that targets filamins A and B for proteasomal degradation
PMID: 18799729
2
ASB2 ubiquitylates SMAD9 and targets it for proteasomal degradation; ASB2 is essential for proper cardiogenesis
PMID: 34845242
3
ASB2 mediates NK cell migration through filamin A degradation; AHR regulates ASB2 expression
PMID: 33717133
4
Asb2 deletion causes embryonic lethality and congenital double outlet right ventricle; Asb2 is required for cardiomyocyte differentiation via FLNA degradation and TGFβ/Smad regulation
PMID: 32179481
5
BCL11A represses ASB2 as a PU.1 target gene; ASB2 downregulation promotes myeloid leukemogenesis
PMID: 34714913
6
FTO regulates ASB2 mRNA expression through m6A demethylation; ASB2 expression affects AML cell differentiation
PMID: 28017614
Disease Associationsⓘ20
spina bifidaOpen Targets
0.35Weak
alcohol drinkingOpen Targets
0.32Weak
exostosisOpen Targets
0.27Weak
self-injurious ideationOpen Targets
0.23Weak
major depressive disorderOpen Targets
0.20Weak
metabolic syndromeOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.05Suggestive
myotonic dystrophy type 1Open Targets
0.04Suggestive
diffuse large B-cell lymphomaOpen Targets
0.03Suggestive
acute lymphoblastic leukemiaOpen Targets
0.03Suggestive
X-Linked Combined Immunodeficiency DiseasesOpen Targets
0.03Suggestive
immunodeficiency 18Open Targets
0.03Suggestive
hepatocellular carcinomaOpen Targets
0.03Suggestive
agammaglobulinemia 7, autosomal recessiveOpen Targets
0.03Suggestive
colorectal cancerOpen Targets
0.03Suggestive
chronic myelogenous leukemiaOpen Targets
0.03Suggestive
drug allergyOpen Targets
0.03Suggestive
obesityOpen Targets
0.02Suggestive
acute myeloid leukemiaOpen Targets
0.02Suggestive
cancerOpen Targets
0.02Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ELOCProtein interaction100%ASB17Protein interaction86%FLNAProtein interaction84%CISHProtein interaction83%CUL5Protein interaction83%RNF7Protein interaction83%
Tissue Expression6 tissues
Heart
100%
Lung
6%
Ovary
2%
Brain
1%
Liver
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ASB2ELOCASB17FLNACISHCUL5RNF7
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96Q27
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.24LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.99 [0.80–1.24]
RankingsWhere ASB2 stands among ~20K protein-coding genes
  • #9,558of 20,598
    Most Researched44
  • #13,112of 17,882
    Most Constrained (LOEUF)1.24
Genes detectedASB2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
FTO Plays an Oncogenic Role in Acute Myeloid Leukemia as a N
PMID: 28017614
Cancer Cell · 2017
1.00
2
BCL11A promotes myeloid leukemogenesis by repressing PU.1 target genes.
PMID: 34714913
Blood Adv · 2022
0.90
3
Loss of Asb2 Impairs Cardiomyocyte Differentiation and Leads to Congenital Double Outlet Right Ventricle.
PMID: 32179481
iScience · 2020
0.80
4
Heart defects and embryonic lethality in Asb2 knock out mice correlate with placental defects.
PMID: 33993984
Cells Dev · 2021
0.70
5
AHR Regulates NK Cell Migration
PMID: 33717133
Front Immunol · 2021
0.60