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    ARID2 AT-rich interaction domain 2 [ Homo sapiens (human) ]

    Gene ID: 196528, updated on 20-Apr-2017
    Official Symbol
    ARID2provided by HGNC
    Official Full Name
    AT-rich interaction domain 2provided by HGNC
    Primary source
    HGNC:HGNC:18037
    See related
    Ensembl:ENSG00000189079 MIM:609539; Vega:OTTHUMG00000150487
    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
    p200; BAF200
    Summary
    This gene encodes a member of the AT-rich interactive domain (ARID)-containing family of DNA-binding proteins. Members of the ARID family have roles in embryonic patterning, cell lineage gene regulation, cell cycle control, transcriptional regulation and chromatin structure modification. This protein functions as a subunit of the polybromo- and BRG1-associated factor or PBAF (SWI/SNF-B) chromatin remodeling complex which facilitates ligand-dependent transcriptional activation by nuclear receptors. Mutations in this gene are associated with hepatocellular carcinomas. A pseudogene of this gene is found on chromosome1. [provided by RefSeq, Dec 2016]
    Orthologs
    Location:
    12q12
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (45729683..45908037)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (46123494..46301820)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105369744 Neighboring gene long intergenic non-protein coding RNA 938 Neighboring gene uncharacterized LOC105369745 Neighboring gene RNA, 7SL, cytoplasmic 246, pseudogene Neighboring gene lysine rich nucleolar protein 1 pseudogene 2 Neighboring gene SR-related CTD associated factor 11 Neighboring gene ribosomal protein L13a pseudogene 21

    • Project title: 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 Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Common genetic variants associated with cognitive performance identified using the proxy-phenotype method.
    NHGRI GWA Catalog
    Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.
    NHGRI GWA Catalog

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat A PBAF-specific component BAF200 is required for HIV-1 Tat-mediated activation of HIV LTR PubMed
    tat Acetylated HIV-1 Tat binds efficiently to BRG1 and BAF200 (component of PBAF complex) and weakly to BAF250 (component of BAF complex) PubMed

    Go to the HIV-1, Human Interaction Database

    • Chromatin modifying enzymes, organism-specific biosystem (from REACTOME)
      Chromatin modifying enzymes, organism-specific biosystemEukaryotic DNA is associated with histone proteins and organized into a complex nucleoprotein structure called chromatin. This structure decreases the accessibility of DNA but also helps to protect i...
    • Chromatin organization, organism-specific biosystem (from REACTOME)
      Chromatin organization, organism-specific biosystemChromatin organization refers to the composition and conformation of complexes between DNA, protein and RNA. It is determined by processes that result in the specification, formation or maintenance o...
    • RMTs methylate histone arginines, organism-specific biosystem (from REACTOME)
      RMTs methylate histone arginines, organism-specific biosystemArginine methylation is a common post-translational modification; around 2% of arginine residues are methylated in rat liver nuclei (Boffa et al. 1977). Arginine can be methylated in 3 different ways...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ30619, KIAA1557, DKFZp686G052, DKFZp779P0222

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    DNA binding IEA
    Inferred from Electronic Annotation
    more info
     
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    Process Evidence Code Pubs
    cardiac muscle cell proliferation IEA
    Inferred from Electronic Annotation
    more info
     
    coronary artery morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    covalent chromatin modification IEA
    Inferred from Electronic Annotation
    more info
     
    embryonic organ development IEA
    Inferred from Electronic Annotation
    more info
     
    heart morphogenesis IEA
    Inferred from Electronic Annotation
    more info
     
    homeostatic process IEA
    Inferred from Electronic Annotation
    more info
     
    negative regulation of cell migration IDA
    Inferred from Direct Assay
    more info
    PubMed 
    negative regulation of cell proliferation IDA
    Inferred from Direct Assay
    more info
    PubMed 
    nucleosome disassembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    transcription, DNA-templated IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    BAF-type complex IEA
    Inferred from Electronic Annotation
    more info
     
    nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    plasma membrane IDA
    Inferred from Direct Assay
    more info
     
    Preferred Names
    AT-rich interactive domain-containing protein 2
    Names
    ARID domain-containing protein 2
    AT rich interactive domain 2 (ARID, RFX-like)
    BRG1-associated factor 200
    zinc finger protein with activation potential
    zipzap/p200

    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

    1. NG_052800.1 RefSeqGene

      Range
      5045..183376
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001347839.1NP_001334768.1  AT-rich interactive domain-containing protein 2 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) differs in the 3' UTR and 3' coding region compared to isoform 1. The encoded isoform (2) has a shorter C-terminus compared to isoform 1.
      Source sequence(s)
      AC008124, AC009464, CR749833
      UniProtKB/Swiss-Prot
      Q68CP9
    2. NM_152641.3NP_689854.2  AT-rich interactive domain-containing protein 2 isoform 1

      See identical proteins and their annotated locations for NP_689854.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform 1.
      Source sequence(s)
      AC008124, AC009464, BX537879, DQ096628
      Consensus CDS
      CCDS31783.1
      UniProtKB/Swiss-Prot
      Q68CP9
      Related
      ENSP00000335044.6, OTTHUMP00000197509, ENST00000334344.10, OTTHUMT00000318380
      Conserved Domains (2) summary
      pfam01388
      Location:19101
      ARID; ARID/BRIGHT DNA binding domain
      pfam02257
      Location:521601
      RFX_DNA_binding; RFX DNA-binding domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

      Range
      45729683..45908037
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006719272.3XP_006719335.1  AT-rich interactive domain-containing protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006719335.1

      Conserved Domains (2) summary
      pfam01388
      Location:19101
      ARID; ARID/BRIGHT DNA binding domain
      pfam02257
      Location:521601
      RFX_DNA_binding; RFX DNA-binding domain
    2. XM_011538025.1XP_011536327.1  AT-rich interactive domain-containing protein 2 isoform X2

      Related
      ENSP00000397307.1, OTTHUMP00000197511, ENST00000444670.5, OTTHUMT00000318382
      Conserved Domains (1) summary
      pfam02257
      Location:157
      RFX_DNA_binding; RFX DNA-binding domain

    RNA

    1. XR_944505.2 RNA Sequence

    Alternate CHM1_1.1

    Genomic

    1. NC_018923.2 Alternate CHM1_1.1

      Range
      46088579..46266707
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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