Gene: ARID5B

Alternate names for this Gene: DESRT|MRF-2|MRF2

Gene Summary: This gene encodes a member of the AT-rich interaction domain (ARID) family of DNA binding proteins. The encoded protein forms a histone H3K9Me2 demethylase complex with PHD finger protein 2 and regulates the transcription of target genes involved in adipogenesis and liver development. This gene also plays a role in cell growth and differentiation of B-lymphocyte progenitors, and single nucleotide polymorphisms in this gene are associated with acute lymphoblastic leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

Gene is located in Chromosome: 10

Location in Chromosome : 10q21.2

Description of this Gene: AT-rich interaction domain 5B

Type of Gene: protein-coding

rs71508903 in ARID5B gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs71508903 in ARID5B gene and AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs71508903 in ARID5B gene and AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs71508903 in ARID5B gene and Autoimmune Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10821944 in ARID5B gene and Blood urea nitrogen measurement PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs4948492 in ARID5B gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs35809595 in ARID5B gene and Central corneal thickness PMID 30894546 2019 Sequence variation at ANAPC1 accounts for 24% of the variability in corneal endothelial cell density.

PMID 29760442 2018 Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

rs4948502 in ARID5B gene and Corneal Topography PMID 23291589 2013 Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

rs10821944 in ARID5B gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs71508903 in ARID5B gene and Hypothyroidism PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4948496 in ARID5B gene and Lupus Erythematosus, Systemic PMID 23273568 2013 Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.

PMID 27399966 2016 Genome-wide association meta-analysis in Chinese and European individuals identifies ten new loci associated with systemic lupus erythematosus.

PMID 26502338 2015 Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus.

rs10821936 in ARID5B gene and Nasopharyngeal carcinoma PMID 20512145 2010 A genome-wide association study of nasopharyngeal carcinoma identifies three new susceptibility loci.

rs7089424 in ARID5B gene and Precursor B-Cell Lymphoblastic Leukemia-Lymphoma PMID 29632299 2018 Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia.

PMID 23996088 2013 Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.

rs10821936 in ARID5B gene and Precursor Cell Lymphoblastic Leukemia Lymphoma PMID 19684603 2009 Germline genomic variants associated with childhood acute lymphoblastic leukemia.

PMID 23512250 2013 Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations.

PMID 28817678 2017 Family-based exome-wide association study of childhood acute lymphoblastic leukemia among Hispanics confirms role of ARID5B in susceptibility.

PMID 22076464 2012 Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia.

PMID 25310577 2014 Confirmation of childhood acute lymphoblastic leukemia variants, ARID5B and IKZF1, and interaction with parental environmental exposures.

PMID 19684604 2009 Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia.

PMID 29348612 2018 GWAS in childhood acute lymphoblastic leukemia reveals novel genetic associations at chromosomes 17q12 and 8q24.21.

rs10821944 in ARID5B gene and Rheumatoid Arthritis PMID 22446963 2012 Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population.

PMID 24532676 2015 High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci.

PMID 23143596 2012 High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis.

PMID 24390342 2014 Genetics of rheumatoid arthritis contributes to biology and drug discovery.

PMID 30423114 2019 Genetic influences on susceptibility to rheumatoid arthritis in African-Americans.

rs7921378 in ARID5B gene and Smoking PMID 30643258 2019 Genome-wide association analyses of risk tolerance and risky behaviors in over 1 million individuals identify hundreds of loci and shared genetic influences.

rs10821950 in ARID5B gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs10821953 in ARID5B gene and Tonometry PMID 29617998 2018 Genome-wide association analyses identify new loci influencing intraocular pressure.

PMID 29235454 2017 A large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure.

rs2393730 in ARID5B gene and Vital capacity PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs71508903 in ARID5B gene and Vitiligo PMID 27723757 2016 Genome-wide association studies of autoimmune vitiligo identify 23 new risk loci and highlight key pathways and regulatory variants.

rs7919055 in ARID5B gene and Waist-Hip Ratio PMID 30575882 2018 Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors.