ARID5B

ARID5B
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1IG6, 2OEH
Identifiers
Aliases	ARID5B, DESRT, MRF-2, MRF2, AT-rich interaction domain 5B
External IDs	OMIM: 608538; MGI: 2175912; HomoloGene: 45872; GeneCards: ARID5B; OMA:ARID5B - orthologs
Gene location (Human)
Chr.	Chromosome 10 (human)
End	62,096,944 bp
Gene location (Mouse)
Chr.	Chromosome 10 (mouse)
End	68,114,570 bp
RNA expression pattern
	Top expressed in
	beta cell; ; saphenous vein; ; pericardium; ; vena cava; ; urethra; ; parietal pleura; ; decidua; ; mucosa of urinary bladder; ; lactiferous duct; ; superficial temporal artery;
	Top expressed in
	zygote; ; left lung lobe; ; stroma of bone marrow; ; Paneth cell; ; ciliary body; ; secondary oocyte; ; decidua; ; ascending aorta; ; ureter; ; vas deferens;
	More reference expression data
	n/a
Gene ontology
Molecular function	DNA binding; RNA polymerase II transcription regulatory region sequence-specific DNA binding; transcription coactivator activity; protein binding; DNA-binding transcription repressor activity, RNA polymerase II-specific; histone demethylase activity; DNA-binding transcription factor activity, RNA polymerase II-specific;
Cellular component	nucleoplasm; nucleus;
Biological process	regulation of transcription, DNA-templated; negative regulation of transcription by RNA polymerase II; transcription, DNA-templated; liver development; negative regulation of transcription, DNA-templated; histone demethylation; kidney development; nitrogen compound metabolic process; male gonad development; female gonad development; post-embryonic development; fibroblast migration; adrenal gland development; multicellular organism growth; fat cell differentiation; platelet-derived growth factor receptor signaling pathway; cell development; muscle organ morphogenesis; skeletal system morphogenesis; positive regulation of DNA-binding transcription factor activity; roof of mouth development; face morphogenesis; adipose tissue development; fat pad development; cellular response to leukemia inhibitory factor; positive regulation of nucleic acid-templated transcription; regulation of transcription by RNA polymerase II;
	Sources:Amigo / QuickGO
Orthologs
	84159
	71371
	ENSG00000150347
	ENSMUSG00000019947
	Q14865
	Q8BM75
	NM_001244638; NM_032199
	NM_023598
	NP_001231567; NP_115575
	NP_076087
	Wikidata
View/Edit Human	View/Edit Mouse

AT-rich interactive domain-containing protein 5B is a protein that in humans is encoded by the ARID5B gene.^[5]^[6]^[7]

Alternative names for this gene include Modulator recognition factor 23.

Genomics

The gene is located on the long arm of chromosome 10 (10q21.2) on the 'plus' strand. It spans 195,261 base pairs in length. It encodes a protein of predicted length and molecular weight of 1188 amino acids and 132.375 kilodaltons respectively.

Clinical importance

Through genome wide association studies (GWAS), some of the single nucleotide polymorphisms (SNPs) located in this gene has been noticed to be significantly associated with susceptibility ^[8]^[9]^[10] as well as treatment outcomes ^[11] of childhood acute lymphoblastic leukaemia in ethnically diverse populations.

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000150347 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000019947 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Lahoud MH, Ristevski S, Venter DJ, Jermiin LS, Bertoncello I, Zavarsek S, Hasthorpe S, Drago J, de Kretser D, Hertzog PJ, Kola I (Aug 2001). "Gene targeting of Desrt, a novel ARID class DNA-binding protein, causes growth retardation and abnormal development of reproductive organs". Genome Research. 11 (8): 1327–34. doi:10.1101/gr.168801. hdl:10536/DRO/DU:30121320. PMID 11483573.
^ Zhu L, Hu J, Lin D, Whitson R, Itakura K, Chen Y (Aug 2001). "Dynamics of the Mrf-2 DNA-binding domain free and in complex with DNA". Biochemistry. 40 (31): 9142–50. doi:10.1021/bi010476a. PMID 11478881.
^ "Entrez Gene: ARID5B AT rich interactive domain 5B (MRF1-like)".
^ Xu H, Yang W, Perez-Andreu V, Devidas M, Fan Y, Cheng C, et al. (May 2013). "Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations". Journal of the National Cancer Institute. 105 (10): 733–42. doi:10.1093/jnci/djt042. PMC 3691938. PMID 23512250.
^ Treviño LR, Yang W, French D, Hunger SP, Carroll WL, Devidas M, et al. (September 2009). "Germline genomic variants associated with childhood acute lymphoblastic leukemia". Nature Genetics. 41 (9): 1001–5. doi:10.1038/ng.432. PMC 2762391. PMID 19684603.
^ Papaemmanuil E, Hosking FJ, Vijayakrishnan J, Price A, Olver B, Sheridan E, et al. (September 2009). "Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia". Nature Genetics. 41 (9): 1006–10. doi:10.1038/ng.430. PMC 4915548. PMID 19684604.
^ Xu H, Cheng C, Devidas M, Pei D, Fan Y, Yang W, et al. (March 2012). "ARID5B genetic polymorphisms contribute to racial disparities in the incidence and treatment outcome of childhood acute lymphoblastic leukemia". Journal of Clinical Oncology. 30 (7): 751–7. doi:10.1200/JCO.2011.38.0345. PMC 3295551. PMID 22291082.

External links

Human ARID5B genome location and ARID5B gene details page in the UCSC Genome Browser.

Genomics

Clinical importance

References

External links

Further reading