ARID5B AT-rich interaction domain 5B [Homo sapiens (human)] - Gene

Summary

Official Symbol: ARID5Bprovided by HGNC
Official Full Name: AT-rich interaction domain 5Bprovided by HGNC
Primary source: HGNC:HGNC:17362
See related: Ensembl:ENSG00000150347 MIM:608538; AllianceGenome:HGNC:17362
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: MRF2; DESRT; MRF-2
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. [provided by RefSeq, Sep 2011]
Expression: Ubiquitous expression in gall bladder (RPKM 21.6), fat (RPKM 15.6) and 24 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 10q21.2

Exon count:: 11

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	10	NC_000010.11 (61901699..62096944)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	10	NC_060934.1 (62758555..62953605)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	10	NC_000010.10 (63661458..63856703)

Chromosome 10 - NC_000010.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Constitutional and acquired genetic variants in ARID5B in pediatric B-cell precursor acute lymphoblastic leukemia.
Title: Constitutional and acquired genetic variants in ARID5B in pediatric B-cell precursor acute lymphoblastic leukemia.
ARID5B-mediated LINC01128 epigenetically activated pyroptosis and apoptosis by promoting the formation of the BTF3/STAT3 complex in beta2GPI/anti-beta2GPI-treated monocytes.
Title: ARID5B-mediated LINC01128 epigenetically activated pyroptosis and apoptosis by promoting the formation of the BTF3/STAT3 complex in β2GPI/anti-β2GPI-treated monocytes.
ARID5B, IKZF1, GATA3, CEBPE, and CDKN2A germline polymorphisms and predisposition to childhood acute lymphoblastic leukemia.
Title: ARID5B, IKZF1, GATA3, CEBPE, and CDKN2A germline polymorphisms and predisposition to childhood acute lymphoblastic leukemia.
ARID5B promoted the histone demethylation of SORBS2 and hampered the metastasis of ovarian cancer.
Title: ARID5B promoted the histone demethylation of SORBS2 and hampered the metastasis of ovarian cancer.
ARID5B regulates fatty acid metabolism and proliferation at the Pre-B cell stage during B cell development.
Title: ARID5B regulates fatty acid metabolism and proliferation at the Pre-B cell stage during B cell development.
[Correlation between ARID5B Gene SNP and MTX Resistance in Children with ALL].
Title: [Correlation between ARID5B Gene SNP and MTX Resistance in Children with ALL].
Contributions of ARID5B, IKZF1, PIP4K2A, and GATA3 Gene Polymorphisms to Childhood Acute Lymphoblastic Leukemia in a Chinese Population.
Title: Contributions of ARID5B, IKZF1, PIP4K2A, and GATA3 Gene Polymorphisms to Childhood Acute Lymphoblastic Leukemia in a Chinese Population.
Association of two ARID5B gene variant single nucleotide polymorphisms with acute lymphoblastic leukemia in the Egyptian population.
Title: Association of two ARID5B gene variant single nucleotide polymorphisms with acute lymphoblastic leukemia in the Egyptian population.
Molecular Mechanisms of ARID5B-Mediated Genetic Susceptibility to Acute Lymphoblastic Leukemia.
Title: Molecular Mechanisms of ARID5B-Mediated Genetic Susceptibility to Acute Lymphoblastic Leukemia.
Impact of Variants in the ATIC and ARID5B Genes on Therapeutic Failure with Imatinib in Patients with Chronic Myeloid Leukemia.
Title: Impact of Variants in the ATIC and ARID5B Genes on Therapeutic Failure with Imatinib in Patients with Chronic Myeloid Leukemia.

Submit: New GeneRIF Correction See all GeneRIFs (66)

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Confirmation of Childhood Acute Lymphoblastic Leukemia Variants, ARID5B and IKZF1, and Interaction with Parental Environmental Exposures. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and fine mapping of serum protein loci through transethnic meta-analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetics of rheumatoid arthritis contributes to biology and drug discovery. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study identifies eight loci associated with blood pressure. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study supports the role of the immunological system and of the neurodevelopmental processes in response to haloperidol treatment. EBI GWAS Catalog EBI GWAS CatalogPubMed
Germline genomic variants associated with childhood acute lymphoblastic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Identification of germline susceptibility loci in ETV6-RUNX1-rearranged childhood acute lymphoblastic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians. EBI GWAS Catalog EBI GWAS CatalogPubMed
Meta-analysis identifies nine new loci associated with rheumatoid arthritis in the Japanese population. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel susceptibility variants at 10p12.31-12.2 for childhood acute lymphoblastic leukemia in ethnically diverse populations. EBI GWAS Catalog EBI GWAS CatalogPubMed
Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH48313 (e-PCR)
- UniSTS:10510

SHGC-68542 (e-PCR)
- UniSTS:95511

RH47625 (e-PCR)
- UniSTS:71713

G62692 (e-PCR)
- UniSTS:139817

ARID5B_3079 (e-PCR)
- UniSTS:468290

B353XB9 (e-PCR)
- UniSTS:25455

STS-AA009652 (e-PCR)
- UniSTS:10895

AFM234WC5 (e-PCR)
- UniSTS:79006

A003N19 (e-PCR)
- UniSTS:35746

SHGC-106526 (e-PCR)
- UniSTS:169894

D10S609 (e-PCR), detects polymorphism
- UniSTS:35258

SHGC-16154 (e-PCR)
- UniSTS:19922

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables transcription cis-regulatory region binding	IBA Inferred from Biological aspect of Ancestor more info
enables transcription cis-regulatory region binding	IDA Inferred from Direct Assay more info	PubMed
enables transcription coactivator activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in adipose tissue development	ISS Inferred from Sequence or Structural Similarity more info
involved_in adrenal gland development	IEA Inferred from Electronic Annotation more info
involved_in cell development	IEA Inferred from Electronic Annotation more info
involved_in cellular response to leukemia inhibitory factor	IEA Inferred from Electronic Annotation more info
involved_in face morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in fat cell differentiation	IEA Inferred from Electronic Annotation more info
involved_in fat pad development	IEA Inferred from Electronic Annotation more info
involved_in female gonad development	IEA Inferred from Electronic Annotation more info
involved_in fibroblast migration	IEA Inferred from Electronic Annotation more info
involved_in kidney development	IEA Inferred from Electronic Annotation more info
involved_in liver development	TAS Traceable Author Statement more info	PubMed
involved_in male gonad development	IEA Inferred from Electronic Annotation more info
involved_in multicellular organism growth	IEA Inferred from Electronic Annotation more info
involved_in muscle organ morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of DNA-templated transcription	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in platelet-derived growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IEA Inferred from Electronic Annotation more info
involved_in post-embryonic development	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in roof of mouth development	IEA Inferred from Electronic Annotation more info
involved_in skeletal system morphogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: AT-rich interactive domain-containing protein 5B

Names: ARID domain-containing protein 5B; AT-rich interactive domain 5B (MRF1-like); MRF1-like protein; modulator recognition factor 2 (MRF2)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_030027.1 RefSeqGene

Range

5446..200691

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001244638.2 → NP_001231567.1 AT-rich interactive domain-containing protein 5B isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus, compared to isoform 1.

Source sequence(s)

AI149153, BC015120, BC036831, BX352258, BX472565, BX537690, M73837

Consensus CDS

CCDS58082.1

UniProtKB/Swiss-Prot

Q14865

Related

ENSP00000308862.5, ENST00000309334.5

Conserved Domains (1) summary

smart00501
Location:76 → 168

BRIGHT; BRIGHT, ARID (A/T-rich interaction domain) domain
NM_032199.3 → NP_115575.1 AT-rich interactive domain-containing protein 5B isoform 1

See identical proteins and their annotated locations for NP_115575.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).

Source sequence(s)

AL671972, BC056680, DB014195, M73837

Consensus CDS

CCDS31208.1

UniProtKB/Swiss-Prot

B4DLB3, Q05DG6, Q14865, Q32Q59, Q5VST4, Q6NZ42, Q7Z3M4, Q8N421, Q9H786

UniProtKB/TrEMBL

A0A7P0TAD2

Related

ENSP00000279873.7, ENST00000279873.12

Conserved Domains (2) summary

smart00501
Location:319 → 411

BRIGHT; BRIGHT, ARID (A/T-rich interaction domain) domain

cl02608
Location:34 → 108

BAH; BAH, or Bromo Adjacent Homology domain (also called ELM1 and BAM for Bromo Adjacent Motif). BAH domains have first been described as domains found in the polybromo protein and Yeast Rsc1/Rsc2 (Remodeling of the Structure of Chromatin). They also occur in ...