HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
8 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ATXN7L3B
ataxin 7 like 3B
Chromosome 12 · 12q21.1
NCBI Gene: 552889Ensembl: ENSG00000253719.4HGNC: HGNC:37931UniProt: Q96GX2
18PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingregulation of gene expressioncytoplasmsmoking cessationpolymyalgia rheumaticadiabetes mellitusplacenta praevia
✦AI Summary

ATXN7L3B is a cytoplasmic protein that negatively regulates the SAGA complex's deubiquitinase (DUB) module through competitive binding to ENY2 1. Unlike its homolog ATXN7L3, ATXN7L3B localizes in the cytoplasm where it sequesters ENY2, preventing its nuclear association with ATXN7L3 and USP22, thereby increasing histone H2B monoubiquitination (H2Bub1) levels and reducing DUB activity toward substrates 1. This mechanism regulates gene expression, particularly estrogen receptor target genes 1. ATXN7L3B has emerging disease relevance across multiple systems. In hepatocellular carcinoma, ATXN7L3B expression correlates negatively with patient survival and promotes cancer stemness; metformin downregulates ATXN7L3B to inhibit HCC tumor-initiating ability 2. Neurologically, deletions encompassing ATXN7L3B associate with neurodevelopmental delay and cerebellar ataxia 3, and balanced translocations disrupting this locus cosegregate with vascular phenotypes and progressive neurological symptoms including chr12 headache and tremor 4. ATXN7L3B expression is upregulated in microglia during neuroinflammation in multiple sclerosis 5 and is downregulated in MCM3AP-associated neuropathy with intellectual disability 6. A colorectal cancer-associated SNP (rs590352) in ATXN7L3B shows gender-specific associations 7. These findings suggest ATXN7L3B functions as a regulatory hub affecting cancer stemness, neurological development, and neuroinflammation.

Sources cited
1
ATXN7L3B localizes in cytoplasm, binds ENY2 competitively with ATXN7L3, sequesters ENY2 from nucleus, increases H2Bub1 levels, and regulates SAGA DUB activity and ER target gene expression
PMID: 27601583
2
ATXN7L3B promotes HCC stemness and tumor-initiating ability; ATXN7L3B expression negatively correlates with liver cancer patient survival; metformin reduces ATXN7L3B levels
PMID: 34375763
3
Deletion of chromosome 12q21 affecting ATXN7L3B associates with neurodevelopmental delay, learning difficulties, and cerebellar ataxia
PMID: 23475819
4
Balanced translocation t(1;12) disrupting ATXN7L3B cosegregates with vascular phenotypes, neurological symptoms including chronic headache, balance problems, tremor, and cerebral infarctions
PMID: 29168350
5
ATXN7L3B expression increases in activated microglia; TGR5 inhibitor increases ATXN7L3B expression, relevant to multiple sclerosis pathophysiology
PMID: 40653076
6
ATXN7L3B SNP rs590352 shows gender-specific association with colorectal cancer risk in males
PMID: 31797724
7
ATXN7L3B is downregulated in MCM3AP-associated neuropathy with intellectual disability due to GANP depletion affecting intron-dependent gene expression
PMID: 32202298
Disease Associationsⓘ20
smoking cessationOpen Targets
0.43Moderate
diabetes mellitusOpen Targets
0.33Weak
polymyalgia rheumaticaOpen Targets
0.33Weak
placenta praeviaOpen Targets
0.21Weak
cartilage diseaseOpen Targets
0.21Weak
ovarian dysfunctionOpen Targets
0.21Weak
bipolar disorderOpen Targets
0.21Weak
placental retentionOpen Targets
0.20Weak
nicotine dependenceOpen Targets
0.20Weak
adolescent idiopathic scoliosisOpen Targets
0.19Weak
Abnormality of the skeletal systemOpen Targets
0.19Weak
Pathologic fractureOpen Targets
0.18Weak
type 1 diabetes mellitusOpen Targets
0.17Weak
duodenitisOpen Targets
0.17Weak
liver diseaseOpen Targets
0.17Weak
contractureOpen Targets
0.16Weak
major depressive disorderOpen Targets
0.08Suggestive
lacrimal apparatus diseaseOpen Targets
0.04Suggestive
schizophreniaOpen Targets
0.03Suggestive
small intestine carcinomaOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PEG3Shared pathway100%TCF19Shared pathway100%ZNF711Shared pathway100%ZNF142Shared pathway100%ZNF239Shared pathway100%HNRNPDLShared pathway100%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
60%
Heart
52%
Ovary
43%
Liver
36%
Lung
29%
Gene Interaction Network
Click a node to explore
ATXN7L3BPEG3TCF19ZNF711ZNF142ZNF239HNRNPDL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q96GX2
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.66LoF Tolerant
pLIⓘ
0.04Tolerant
Observed/Expected LoF0.78 [0.38–1.66]
RankingsWhere ATXN7L3B stands among ~20K protein-coding genes
  • #14,642of 20,598
    Most Researched18
  • #15,954of 17,882
    Most Constrained (LOEUF)1.66
Genes detectedATXN7L3B
Sources retrieved8 papers
Response time—
📄 Sources
8▼
1
Ursodeoxycholic acid alleviates multiple sclerosis via TGR5-dependent microglial regulation in mice.
PMID: 40653076
Eur J Pharmacol · 2025
1.00
2
Potential regulatory SNPs in the
PMID: 31797724
Per Med · 2020
0.88
3
Deletion of chromosome 12q21 affecting KCNC2 and ATXN7L3B in a family with neurodevelopmental delay and ataxia.
PMID: 23475819
J Neurol Neurosurg Psychiatry · 2013
0.75
4
Breakpoint mapping and haplotype analysis of translocation t(1;12)(q43;q21.1) in two apparently independent families with vascular phenotypes.
PMID: 29168350
Mol Genet Genomic Med · 2018
0.63
5
ATXN7L3B promotes hepatocellular carcinoma stemness and is downregulated by metformin.
PMID: 34375763
Biochem Biophys Res Commun · 2021
0.50