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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ARID5B
AT-rich interaction domain 5B
Chromosome 10 · 10q21.2
NCBI Gene: 84159Ensembl: ENSG00000150347.17HGNC: HGNC:17362UniProt: Q14865
137PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription cis-regulatory region bindingDNA bindingtranscription coactivator activityprotein bindingacute lymphoblastic leukemiatype 2 diabetes mellitusrheumatoid arthritissmoking initiation
✦AI Summary

ARID5B is a transcription coactivator that binds AT-rich DNA sequences and plays crucial roles in metabolic and hematopoietic development. Mechanistically, ARID5B forms complexes with PHF2 to mediate histone H3K9me2 demethylation at target promoters, facilitating transcription activation 1. It acts as a coactivator of HNF4A in liver development and regulates adipogenesis by controlling adipogenic gene expression and triglyceride metabolism 1. At the molecular level, ARID5B functions as a repressor of preadipocyte enhancers; obesity-associated variants disrupting ARID5B binding motifs lead to derepression of IRX3/IRX5, shifting development from thermogenic beige adipocytes to energy-storing white adipocytes 1. Clinically, ARID5B variants are significantly associated with childhood acute lymphoblastic leukemia (ALL) susceptibility, particularly B-cell ALL, across multiple populations 23. Specific polymorphisms (rs10821936, rs10994982, rs7089424) show ethnicity-dependent associations with ALL risk 2. The rs10821936 C allele correlates with MTX resistance in ALL children and increased disease risk stratification 43. Additionally, ARID5B mutations appear in endometrial carcinomas and HPV-independent cervical cancers 56, and ARID5B is listed among cancer driver genes 7. ARID5B polymorphisms also associate with juvenile systemic lupus erythematosus susceptibility 8.

Sources cited
1
ARID5B functions as a repressor of preadipocyte enhancers; disruption of ARID5B binding motifs leads to altered adipocyte thermogenesis and metabolic fate
PMID: 26287746
2
ARID5B polymorphisms (rs10821936, rs10994982, rs7089424) are significantly associated with childhood ALL susceptibility, particularly B-cell ALL
PMID: 31111395
3
ARID5B rs10821936 C allele associates with increased risk of childhood ALL and high-risk disease classification in Chinese children
PMID: 36952466
4
ARID5B rs4948488 polymorphism associates with methotrexate resistance in ALL children
PMID: 37096502
5
ARID5B mutations occur in endometrial carcinomas, particularly in high-grade endometrioid tumors
PMID: 23636398
6
ARID5B alterations are present in HPV-independent cervical cancers with worse oncological outcomes
PMID: 34725203
7
ARID5B is identified as a cancer driver gene involved in chromatin remodeling pathways
PMID: 31221981
8
ARID5B rs10821936 C allele is associated with juvenile systemic lupus erythematosus susceptibility
PMID: 33888010
Disease Associationsⓘ21
acute lymphoblastic leukemiaOpen Targets
0.59Moderate
type 2 diabetes mellitusOpen Targets
0.51Moderate
rheumatoid arthritisOpen Targets
0.50Moderate
smoking initiationOpen Targets
0.50Moderate
hypothyroidismOpen Targets
0.50Moderate
B-cell acute lymphoblastic leukemiaOpen Targets
0.48Moderate
thyroid diseaseOpen Targets
0.47Moderate
Abnormality of the skeletal systemOpen Targets
0.46Moderate
systemic lupus erythematosusOpen Targets
0.45Moderate
Varicose veinsOpen Targets
0.44Moderate
goutOpen Targets
0.44Moderate
diabetes mellitusOpen Targets
0.41Moderate
hypertensionOpen Targets
0.41Moderate
myxedemaOpen Targets
0.38Weak
autoimmune diseaseOpen Targets
0.38Weak
Graves diseaseOpen Targets
0.37Weak
ACPA-positive rheumatoid arthritisOpen Targets
0.36Weak
age-related hearing impairmentOpen Targets
0.35Weak
glaucomaOpen Targets
0.35Weak
risk-taking behaviourOpen Targets
0.34Weak
Leukemia, acute lymphoblasticUniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CEBPEProtein interaction92%C16orf87Protein interaction85%SMARCB1Protein interaction81%PHF2Protein interaction80%HDAC1Protein interaction77%PBRM1Protein interaction74%
Tissue Expression6 tissues
Brain
100%
Ovary
92%
Lung
91%
Heart
68%
Bone Marrow
22%
Liver
20%
Gene Interaction Network
Click a node to explore
ARID5BCEBPEC16orf87SMARCB1PHF2HDAC1PBRM1
PROTEIN STRUCTURE
Preparing viewer…
PDB1IG6 · NMR
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.21Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.13 [0.09–0.21]
RankingsWhere ARID5B stands among ~20K protein-coding genes
  • #3,365of 20,598
    Most Researched137 · top quartile
  • #510of 17,882
    Most Constrained (LOEUF)0.21 · top 5%
Genes detectedARID5B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrated genomic characterization of endometrial carcinoma.
PMID: 23636398
Nature · 2013
1.00
2
Human papillomavirus-independent cervical cancer.
PMID: 34725203
Int J Gynecol Cancer · 2022
0.90
3
FTO Obesity Variant Circuitry and Adipocyte Browning in Humans.
PMID: 26287746
N Engl J Med · 2015
0.80
4
ARID5B gene polymorphisms and the risk of childhood acute lymphoblastic leukemia: a meta-analysis.
PMID: 31111395
Int J Hematol · 2019
0.70
5
Contributions of ARID5B, IKZF1, PIP4K2A, and GATA3 Gene Polymorphisms to Childhood Acute Lymphoblastic Leukemia in a Chinese Population.
PMID: 36952466
J Pediatr Hematol Oncol · 2023
0.60