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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ASB9
ankyrin repeat and SOCS box containing 9
Chromosome X · Xp22.2
NCBI Gene: 140462Ensembl: ENSG00000102048.17HGNC: HGNC:17184UniProt: A0A024RBW7
37PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein ubiquitinationpositive regulation of protein catabolic processprotein bindingubiquitin-like ligase-substrate adaptor activityretinoschisisAlzheimer diseasehypertensionclear cell renal carcinoma
✦AI Summary

ASB9 (ankyrin repeat and SOCS box containing 9) is an X-linked E3 ubiquitin ligase that functions as a substrate-recognition subunit of ECS-type Cullin RING ligase complexes 1. The protein contains ankyrin repeat domains for substrate binding and a SOCS box domain that facilitates assembly with Elongin B/C, Cullin-2, and RBX1 to form the ECSASB9 complex 2. ASB9 catalyzes K48-linked polyubiquitination of target proteins, directing them for proteasomal degradation 2. Known substrates include TUBB4A (tubulin beta 4 A) in testis 2 and HIF1AN in spermatogonial stem cells 3. In spermatogenesis, ASB9 is highly expressed in nonproliferating spermatogonial stem cells, where it suppresses proliferation and promotes apoptosis through HIF1AN degradation 3. ASB9 also regulates ovarian granulosa cell function by modulating MAPK signaling through interactions with PAR1 and TAOK1 4. Clinically, ASB9 dysfunction is implicated in male infertility; genetic variants in ASB9 are associated with idiopathic infertility and oligoasthenoteratozoospermia 2, and ASB9 dysregulation correlates with non-obstructive azoospermia 3. Additionally, X-chromosome X near ASB9 show genome-wide association with autism spectrum disorder 5.

Sources cited
1
ASB9 forms ECSASB9 complex with Elongin B/C, CUL2, and RBX1; ubiquitinates TUBB4A at K379 for proteasomal degradation; ASB9 variants cause male infertility
PMID: 41730923
2
ASB9 highly expressed in spermatogonial stem cells; suppresses proliferation and promotes apoptosis through HIF1AN degradation; downregulated in non-obstructive azoospermia
PMID: 36683111
3
ASB9 regulates ovarian granulosa cell proliferation and apoptosis; modulates MAPK3/1 signaling through PAR1 and TAOK1 binding
PMID: 34476862
4
ASB9 binds creatine kinase dimer through ankyrin repeats; substrate-recognition subunit of ECS-type Cullin RING E3 ubiquitin ligase complexes
PMID: 25654263
5
X-chromosome variants in ASB9/ASB11 region (rs12687599, p=3.57×10⁻⁷) significantly associated with autism spectrum disorder
PMID: 39706197
6
ASB9 identified as marker gene in Sertoli cells; co-localizes with germ cell markers in testis tissue
PMID: 40371706
7
Crystal structure of ASB9-2 isoform; His103 and Phe107 essential for CKB binding
PMID: 22418839
Disease Associationsⓘ20
retinoschisisOpen Targets
0.02Suggestive
Alzheimer diseaseOpen Targets
0.02Suggestive
hypertensionOpen Targets
0.02Suggestive
clear cell renal carcinomaOpen Targets
0.02Suggestive
colorectal carcinomaOpen Targets
0.01Suggestive
colorectal cancerOpen Targets
0.01Suggestive
hepatocellular carcinomaOpen Targets
0.01Suggestive
breast cancerOpen Targets
0.01Suggestive
extranodal nasal NK/T cell lymphomaOpen Targets
0.01Suggestive
liver hemangiomaOpen Targets
0.01Suggestive
azoospermiaOpen Targets
0.01Suggestive
ulnar-mammary syndromeOpen Targets
0.01Suggestive
psoriasisOpen Targets
0.01Suggestive
male infertilityOpen Targets
0.00Suggestive
nasopharyngeal carcinomaOpen Targets
0.00Suggestive
prostate cancerOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
infectionOpen Targets
0.00Suggestive
nasopharyngeal neoplasmOpen Targets
0.00Suggestive
cancerOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CKMT1AProtein interaction100%ELOCProtein interaction100%ELOBProtein interaction100%CUL5Protein interaction100%ARIH2Protein interaction100%CKMT1BProtein interaction93%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
77%
Lung
25%
Heart
19%
Ovary
6%
Brain
5%
Gene Interaction Network
Click a node to explore
ASB9CKMT1AELOCELOBCUL5ARIH2CKMT1B
PROTEIN STRUCTURE
Preparing viewer…
PDB3D9H · 2.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.63LoF Tolerant
pLIⓘ
0.82Intermediate
Observed/Expected LoF0.30 [0.16–0.63]
RankingsWhere ASB9 stands among ~20K protein-coding genes
  • #10,585of 20,598
    Most Researched37
  • #4,473of 17,882
    Most Constrained (LOEUF)0.63
Genes detectedASB9
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Chromosome X-wide common variant association study in autism spectrum disorder.
PMID: 39706197
Am J Hum Genet · 2025
1.00
2
scRNA-seq and scATAC-seq reveal that Sertoli cell mediates spermatogenesis disorders through stage-specific communications in non-obstructive azoospermia.
PMID: 40371706
Elife · 2025
0.90
3
Ubiquitin protein E3 ligase ASB9 suppresses proliferation and promotes apoptosis in human spermatogonial stem cell line by inducing HIF1AN degradation.
PMID: 36683111
Biol Res · 2023
0.80
4
Ankyrin-repeat and SOCS box-containing protein 9 (ASB9) regulates ovarian granulosa cells function and MAPK signaling.
PMID: 34476862
Mol Reprod Dev · 2021
0.70
5
A testis-specific E3 ubiquitin ligase complex governs spermiogenesis and male fertility.
PMID: 41730923
Nat Commun · 2026
0.60