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FLASH GENE

Symbol

ARID5B

contributors: mct/pgu - updated : 12-03-2012

HGNC name	AT rich interactive domain 5B (MRF1-like)
HGNC id	17362

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	10q21.2      Physical location : 63.661.012 - 63.856.707
Synonym name	modulator recognition factor 2
	developmentally and sexually retarded with transient immune abnormalities
	ARID domain-containing protein 5B
Synonym symbol(s)	DESRT, MRF2, FLJ21150, RP11-341A19.1, Mrf1-like

DNA

TYPE	functioning gene
STRUCTURE	195.70 kb     10 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001244638 10 - 7032 NP_001231567 - 945 - 2001 1148357 NM_032199 10 - 7948 NP_115575 132.2 1188 - 2001 1148357

EXPRESSION

Type

widely

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive esophagus       highly Endocrine parathyroid       moderately Hearing/Equilibrium ear       predominantly Lymphoid/Immune lymph node       highly Reproductive female system breast mammary gland   moderately   female system ovary     highly   female system uterus     highly Respiratory respiratory tract larynx     highly Urinary bladder       moderately

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Blood / hematopoietic bone marrow     moderately

cell lineage
cell lines
fluid/secretion	moderately in blood

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a ARID domain mediating the interaction with DNA

HOMOLOGY

interspecies	homolog to rattus Arid5b (87.7 pc)
	homolog to murine Arid5b (88.1 pc)

Homologene

FAMILY

ARID (A.T rich interaction domain) family of transcription factor

CATEGORY

regulatory , transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	acting as a transcription regulator
	repressing the cytomegalovirus enhancer
	acting as a regulator of smooth muscle cell differentiation and proliferation (induction of smooth muscle marker genes by overexpression)
	may be involved in lipid stores
	being a potential regulator of adipocyte differentiation and a potential repressor of . can be a potential regulator of adipocyte differentiation and a potential repressor of leptin

CELLULAR PROCESS	cell life, differentiation
	nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

PHF2-ARID5B complex is a signal-sensing modulator of histone methylation and gene transcription, in which phosphorylation of PHF2 enables subsequent formation of a competent and specific histone demethylase complex

INTERACTION

DNA	binding to the 5'-AATA[CT]-3' core sequence

RNA

small molecule

protein

phosphorylated PHF2 then associates with ARID5B, a DNA-binding protein, and induce demethylation of methylated ARID5B

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to to childhood acute lymphoblastic leukemia to Systemic lupus erythematosus (SLE)

Variant & Polymorphism SNP	association of 5 SNPs [rs7073837, rs10994982, rs10740055 , rs10821936 and rs7089424] in the ARID5B gene with childhood acute lymphoblastic leukemia
	genetic variants increasing the risk of Systemic lupus erythematosus (SLE)

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed diabete metabolic syndrom   suppression of ARID5B could be an effective treatment for obesity and diabetes

ANIMAL & CELL MODELS

knockout mice