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ARID1B Gene

protein-coding   GIFtS: 62
GCID: GC06P157105

AT Rich Interactive Domain 1B (SWI1-Like)

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
AT Rich Interactive Domain 1B (SWI1-Like)1 2     ELD/OSA12
BAF250B2 3 5     P250R2
DAN152 3     AT-Rich Interactive Domain-Containing Protein 1B2
OSA22 3     BRG1-Binding Protein ELD/OSA12
ARID Domain-Containing Protein 1B2 3     ELD (Eyelid)/OSA Protein2
BRG1-Associated Factor 250b2 3     BRG1-Binding Protein HELD/OSA13
MRD122 5     hOsa23
KIAA12353 5     Osa Homolog 23
6A3-52     p250R3
BRIGHT2     

External Ids:    HGNC: 180401   Entrez Gene: 574922   Ensembl: ENSG000000496187   OMIM: 6145565   UniProtKB: Q8NFD53   

Export aliases for ARID1B gene to outside databases

Previous GC identifers: GC06P157130 GC06P157191 GC06P154662


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ARID1B Gene:
This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of the
SWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this
locus is similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative,
mutually exclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles.
Alternatively spliced transcript variants encoding different isoforms have been described. (provided by RefSeq,
Feb 2012)

GeneCards Summary for ARID1B Gene:
ARID1B (AT rich interactive domain 1B (SWI1-like)) is a protein-coding gene. Diseases associated with ARID1B include arid1b-related coffin-siris syndrome, and chromosome 6q25 microdeletion syndrome. GO annotations related to this gene include transcription coactivator activity. An important paralog of this gene is ARID3C.

UniProtKB/Swiss-Prot: ARI1B_HUMAN, Q8NFD5
Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling
(alteration of DNA-nucleosome topology). Belongs to the neural progenitors-specific chromatin remodeling complex
(npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a
switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell
cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells
to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural
progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and
PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in
neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of
the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of
genes essential for dendrite growth (By similarity). Binds DNA non-specifically

Gene Wiki entry for ARID1B Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000006.12  NT_025741.16  NC_018917.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ARID1B gene promoter:
         Nkx3-1   Pbx1a   POU3F1   Nkx3-1 v1   RORalpha2   AREB6   Nkx3-1 v2   POU2F1   POU2F1a   Nkx3-1 v3   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ARID1B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ARID1B


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6q25.1   Ensembl cytogenetic band:  6q25.3   HGNC cytogenetic band: 6q25.3

ARID1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ARID1B gene location

GeneLoc information about chromosome 6         GeneLoc Exon Structure

GeneLoc location for GC06P157105:  view genomic region     (about GC identifiers)

Start:
157,099,063 bp from pter      End:
157,531,913 bp from pter
Size:
432,851 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: ARI1B_HUMAN, Q8NFD5 (See protein sequence)
Recommended Name: AT-rich interactive domain-containing protein 1B  
Size: 2236 amino acids; 236123 Da
Subunit: Component of SWI/SNF chromatin remodeling complexes, in some of which it can be mutually exclusive with
ARID1A/BAF250A. Component of the BAF (SWI/SNF-A) complex, which includes at least actin (ACTB), ARID1A,
ARID1B/BAF250, SMARCA2, SMARCA4/BRG1/BAF190A, ACTL6A/BAF53, ACTL6B/BAF53B, SMARCE1/BAF57, SMARCC1/BAF155,
SMARCC2/BAF170, SMARCB1/SNF5/INI1, and one or more of SMARCD1/BAF60A, SMARCD2/BAF60B, or SMARCD3/BAF60C. In
muscle cells, the BAF complex also contains DPF3. Component of the SWI/SNF-B (PBAF) complex, at least composed of
SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A,
SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PB1/BAF180, ARID2/BAF200, ARID1A/BAF250A
or ARID1B/BAF250B and actin. Component of a SWI/SNF-like EPAFb complex, at least composed of
SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, ACTL6A/BAF53A, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B,
SMARCC1/BAF155, SMARCC2/BAF170, ARID1B/BAF250B, MLLT1/ENL and actin. Component of a SWI/SNF-like complex
containing ARID1A/BAF250A and ARID1B/BAF250B. Interacts through its C-terminus with SMARCA2/BRM/BAF190B and
SMARCA4/BRG1/BAF190A. Interacts with SMARCC1/BAF155. Component of neural progenitors-specific chromatin
remodeling complex (npBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A,
SMARCD3/BAF60C, SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57,
SMARCC2/BAF170, PHF10/BAF45A, ACTL6A/BAF53A and actin. Component of neuron-specific chromatin remodeling complex
(nBAF complex) composed of at least, ARID1A/BAF250A or ARID1B/BAF250B, SMARCD1/BAF60A, SMARCD3/BAF60C,
SMARCA2/BRM/BAF190B, SMARCA4/BRG1/BAF190A, SMARCB1/BAF47, SMARCC1/BAF155, SMARCE1/BAF57, SMARCC2/BAF170,
DPF1/BAF45B, DPF3/BAF45C, ACTL6B/BAF53B and actin (By similarity)
Caution: It is uncertain whether Met-1 or Met-59 is the initiator
Sequence caution: Sequence=AAL76077.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAN70985.1; Type=Frameshift; Positions=857, 863; Sequence=CAA69592.1; Type=Frameshift; Positions=132;
2 PDB 3D structures from and Proteopedia for ARID1B:
2CXY (3D)        2EH9 (3D)    
Secondary accessions: Q5JRD1 Q5VYC4 Q8IZY8 Q8TEV0 Q8TF02 Q99491 Q9ULI5
Alternative splicing: 4 isoforms:  Q8NFD5-1   Q8NFD5-2   Q8NFD5-3   Q8NFD5-4   

Explore the universe of human proteins at neXtProt for ARID1B: NX_Q8NFD5

Explore proteomics data for ARID1B at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys2097, Lys2187
  • Modification sites at PhosphoSitePlus

  • See ARID1B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_059989.2  NP_065783.3  

    ENSEMBL proteins: 
     ENSP00000055163   ENSP00000344546   ENSP00000412835   ENSP00000313006   ENSP00000383596  
     ENSP00000356116   ENSP00000275248  

    ARID1B Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for ARID1B
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ARID1B
    GenScript Custom Purified and Recombinant Proteins Services for ARID1B
    Novus Biologicals ARID1B Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ARID1B

    ARID1B Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ARID1B
    Browse R&D Systems for Antibodies
    OriGene Antibodies for ARID1B
    OriGene Custom Antibody Services for ARID1B
    Novus Biologicals ARID1B Antibodies
    Abcam antibodies for ARID1B
    Cloud-Clone Corp. Antibodies for ARID1B
    Search ThermoFisher Antibodies for ARID1B
    LSBio Antibodies in human, mouse, rat for ARID1B

    ARID1B Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for ARID1B
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ARID1B
    Cloud-Clone Corp. CLIAs for ARID1B


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR011989 ARM-like
     IPR021906 DUF3518
     IPR001606 ARID/BRIGHT_DNA-bd

    Graphical View of Domain Structure for InterPro Entry Q8NFD5

    ProtoNet protein and cluster: Q8NFD5

    1 Blocks protein domain: IPB001606 ARID (AT-rich interaction domain) protein

    UniProtKB/Swiss-Prot: ARI1B_HUMAN, Q8NFD5
    Similarity: Contains 1 ARID domain


    ARID1B for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ARI1B_HUMAN, Q8NFD5
    Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling
    (alteration of DNA-nucleosome topology). Belongs to the neural progenitors-specific chromatin remodeling complex
    (npBAF complex) and the neuron-specific chromatin remodeling complex (nBAF complex). During neural development a
    switch from a stem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell
    cycle and become committed to their adult state. The transition from proliferating neural stem/progenitor cells
    to post-mitotic neurons requires a switch in subunit composition of the npBAF and nBAF complexes. As neural
    progenitors exit mitosis and differentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and
    PHF10/BAF45A, are exchanged for homologous alternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in
    neuron-specific complexes (nBAF). The npBAF complex is essential for the self-renewal/proliferative capacity of
    the multipotent neural stem cells. The nBAF complex along with CREST plays a role regulating the activity of
    genes essential for dendrite growth (By similarity). Binds DNA non-specifically

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003713transcription coactivator activity NAS11734557
    GO:0005488binding ----
    GO:0005515protein binding IPI12200431
         
    ARID1B for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for ARID1B:
     Cell cycle / mitosis defect  Increased G1 DNA content  Synthetic lethal with Ras 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ARID1B
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ARID1B

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ARID1B
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ARID1B

    miRNA
    Products:
        
    miRTarBase miRNAs that target ARID1B:
    hsa-mir-92b-3p (MIRT040618), hsa-mir-92a-3p (MIRT049438), hsa-mir-324-5p (MIRT043253)

    Block miRNA regulation of human, mouse, rat ARID1B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ARID1B (see all 55):
    hsa-miR-142-5p hsa-miR-323-3p hsa-miR-520f hsa-miR-3616-5p hsa-miR-128 hsa-miR-25 hsa-miR-4305 hsa-miR-486-3p
    SwitchGear 3'UTR luciferase reporter plasmidARID1B 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ARID1B
    Predesigned siRNA for gene silencing in human, mouse, rat ARID1B

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for ARID1B

    Clone
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    OriGene ORF clones in mouse, rat for ARID1B
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ARID1B (NM_017519)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARID1B
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ARID1B

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARID1B


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ARI1B_HUMAN, Q8NFD5: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol2
    extracellular1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0016514SWI/SNF complex IDA11734557

    ARID1B for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ARID1B About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Transcription Ligand dependent activation of the ESR1 SP pathway
    Transcription Ligand dependent activation of the ESR1 SP pathway0.37
    Development Ligand dependent activation of the ESR1 AP 1 pathway0.37
    2Prostate Cancer
    Prostate Cancer0.32

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 GeneGo (Thomson Reuters) Pathways for ARID1B
        Transcription Ligand-dependent activation of the ESR1/SP pathway
    Development Ligand-dependent activation of the ESR1/AP-1 pathway

    1 BioSystems Pathway for ARID1B
        Prostate Cancer


        Pathway & Disease-focused RT2 Profiler PCR Arrays including ARID1B: 
              Polycomb & Trithorax Complexes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ARID1B

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ARID1B (Q8NFD51, 2, 3 ENSP000002752484) via UniProtKB, MINT, STRING, and/or I2D (see all 68)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    SMARCA4P515321, 3, ENSP000003507204EBI-679921,EBI-302489 I2D: score=5 STRING: ENSP00000350720
    SMARCA2P515311, 3, ENSP000002657734EBI-679921,EBI-679562 I2D: score=2 STRING: ENSP00000265773
    RELBQ012012, 3MINT-49019 I2D: score=2 
    SMAD9O151982, 3, ENSP000003691544MINT-62109 I2D: score=2 STRING: ENSP00000369154
    SMARCB1Q128243, ENSP000002631214I2D: score=2 STRING: ENSP00000263121
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006351transcription, DNA-templated IEA--
    GO:0007399nervous system development IEA--
    GO:0048096chromatin-mediated maintenance of transcription NAS11734557

    ARID1B for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ARID1B (ARI1B)



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ARID1B gene (2 alternative transcripts): 
    NM_017519.2  NM_020732.3  

    Unigene Cluster for ARID1B:

    AT rich interactive domain 1B (SWI1-like)
    Hs.291587  [show with all ESTs]
    Unigene Representative Sequence: NM_020732
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000350026 ENST00000346085 ENST00000414678 ENST00000494260 ENST00000319584
    ENST00000452544(uc003qqq.1) ENST00000493658 ENST00000478761 ENST00000400790
    ENST00000367148(uc003qqo.3 uc003qqp.3 uc003qqn.3) ENST00000275248

    miRNA
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    Block miRNA regulation of human, mouse, rat ARID1B using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ARID1B (see all 55):
    hsa-miR-142-5p hsa-miR-323-3p hsa-miR-520f hsa-miR-3616-5p hsa-miR-128 hsa-miR-25 hsa-miR-4305 hsa-miR-486-3p
    SwitchGear 3'UTR luciferase reporter plasmidARID1B 3' UTR sequence
    Inhib. RNA
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    GenScript: all cDNA clones in your preferred vector (see all 2): ARID1B (NM_017519)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ARID1B
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ARID1B
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ARID1B
      QuantiTect SYBR Green Assays in human, mouse, rat ARID1B
      QuantiFast Probe-based Assays in human, mouse, rat ARID1B

    Additional mRNA sequence: 

    AB033061.1 AF253515.1 AF259792.1 AF468300.1 AF521671.1 AK000921.1 AK025945.1 AK074180.1 
    AK302356.1 BC009543.1 Y08266.1 

    20 DOTS entries:

    DT.315179  DT.100787159  DT.97842728  DT.100831  DT.100787158  DT.121325289  DT.40209965  DT.40130880 
    DT.97793452  DT.100695862  DT.99946024  DT.422307  DT.75100609  DT.91984294  DT.211807  DT.86855950 
    DT.95254122  DT.95362097  DT.40315782  DT.97761899 

    Selected AceView cDNA sequences (see all 170):

    AA383798 AK000921 BX489511 AA088585 AA323129 BF439023 BQ431214 AI928350 
    NM_017519 AK074180 AW268592 AA570079 AA456547 T31821 BU682132 AA749153 
    CD642355 AA170810 BM013691 CR591960 NM_020732 BF056023 AI452758 BU838593 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ARID1B (see all 10)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^
    SP1:                          -     -     -     -                       -     -                       -                       -                 -               
    SP2:                          -     -     -     -     -                 -     -                       -                       -                 -               
    SP3:                                                                                                                          -                                 
    SP4:                                                                    -     -                       -                       -                                 
    SP5:                                                                    -                             -                                                         

    ExUns: 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24a · 24b
    SP1:  -                                                   
    SP2:  -                                                   
    SP3:  -                                                   
    SP4:                                                      
    SP5:                                                      


    ECgene alternative splicing isoforms for ARID1B

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ARID1B expression in normal human tissues (normalized intensities)      ARID1B embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTAAGAATAA
    ARID1B Expression
    About this image


    ARID1B expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Lung (Respiratory System)
             Stem Bronchi
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
    ARID1B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ARID1B Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.291587

    UniProtKB/Swiss-Prot: ARI1B_HUMAN, Q8NFD5
    Tissue specificity: Widely expressed with high levels in heart, skeletal muscle and kidney

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ARID1B: 
              Polycomb & Trithorax Complexes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARID1B

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ARID1B gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Arid1b1 , 5 AT rich interactive domain 1B (SWI-like)1, 5 87.09(n)1
    91.27(a)1
      17 (2.83 cM)5
    2399851  NM_001085355.11  NP_001078824.11 
     49943325 
    chicken
    (Gallus gallus)
    Aves ARID1B1 AT rich interactive domain 1B (SWI1-like) 82.19(n)
    89.42(a)
      421650  XM_001232095.3  XP_001232096.3 
    lizard
    (Anolis carolinensis)
    Reptilia ARID1B6
    AT rich interactive domain 1B (SWI1-like)
    71(a)
    1 ↔ 1
    1(213382248-213850510)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia arid1b1 AT rich interactive domain 1B (SWI1-like) 74.04(n)
    77.93(a)
      100493908  XM_004914629.1  XP_004914686.1 
    zebrafish
    (Danio rerio)
    Actinopterygii arid1b1 AT rich interactive domain 1B (SWI1-like) 63.75(n)
    62.27(a)
      569589  XM_692987.6  XP_698079.4 
    fruit fly
    (Drosophila melanogaster)
    Insecta osa6
    osa
    22(a)
    1 → many
    3R(13513540-13544059)
    worm
    (Caenorhabditis elegans)
    Secernentea let-5266
    Protein LET-526, isoform a
    20(a)
    1 → many
    I(5300995-5313926) WBGene00002717
    rice
    (Oryza sativa)
    Liliopsida AB071805.12   -- 79.67(n)    AB071805.1 


    ENSEMBL Gene Tree for ARID1B (if available)
    TreeFam Gene Tree for ARID1B (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ARID1B gene
    ARID3C2  ARID1A2  ARID3A2  ARID3B2  
    4 SIMAP similar genes for ARID1B using alignment to 6 protein entries:     ARI1B_HUMAN (see all proteins):
    FLJ00253    ARID1A    ARID1A variant protein    ARID3A

    ARID1B for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    ARI1B_HUMAN, Q8NFD5: The poly-Gln region is polymorphic and the number of Gln varies in the population (from 17 to 23)


    Selected SNPs for ARID1B (see all 9130)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 6 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0362574
    A breast cancer sample4--see VAR_0362572 G A mis40--------
    rs720986741,2
    C--154672120(+) TCACTCTAA/-  
            
    CTAAT
    2 -- int11Minor allele frequency- -:0.50CSA 2
    rs2081161,2
    C,F--154702103(-) GTGTGT/Gttttt 2 -- int13Minor allele frequency- G:0.40NA WA CSA 5
    rs2022182451,2
    --154708152(+) TTGTT-/GTTTTT 2 -- int10--------
    rs1450350291,2
    C--154720466(+) GAGAC-/GAGGTCTC 2 -- cds10--------
    rs668019261,2
    C--154725324(-) ACACA-/CACTGAAA
    T
    /G/GCAAGA
    CAGCA
    6 -- int1 cds11NA 2
    rs2014582451,2
    --154725325(+) CTGTC-/ATTGCT 2 -- int10--------
    rs1385129291,2
    C--154725329(+) CTTGC-/TGAT  
     TTCAGTG
    TGTGT
    2 -- int10--------
    rs1139807421,2
    C--154730719(+) TTTTT-/TTTG/ 
    TTTGTTTG
    TTTTG
    2 -- int11CSA 2
    rs667589151,2
    C--154730720(+) TTTTT-/TTTG/ 
    TTTGTTTG
    TTGTT
    2 -- int10--------

    HapMap Linkage Disequilibrium report for ARID1B (157099063 - 157349063 bp, first 250kb of ARID1B)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ARID1B (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1286652CNV Deletion17803354
    esv1041952CNV Deletion17803354
    esv2673117CNV Deletion23128226
    esv272891CNV Insertion20981092
    esv271459CNV Insertion20981092
    nsv507370CNV Insertion20534489
    nsv508436CNV Loss20534489
    nsv5556CNV Loss18451855
    esv33003CNV Loss17666407
    nsv823884CNV Loss20364138

    Human Gene Mutation Database (HGMD): ARID1B
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ARID1B
    DNA2.0 Custom Variant and Variant Library Synthesis for ARID1B

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614556   
    OMIM disorders: 614562  
    UniProtKB/Swiss-Prot: ARI1B_HUMAN, Q8NFD5
  • Mental retardation, autosomal dominant 12 (MRD12) [MIM:614562]: A disorder characterized by significantly
    below average general intellectual functioning associated with impairments in adaptive behavior and manifested
    during the developmental period. MRD12 patients present with moderate to severe psychomotor retardation, and most
    show evidence of muscular hypotonia. In many patients, expressive speech is more severely affected than receptive
    function. Additional common findings include short stature, abnormal head shape and low-set, posteriorly rotated,
    and abnormally shaped ears, downslanting palpebral fissures, a bulbous nasal tip, a thin upper lip, minor teeth
    anomalies, and brachydactyly or single palmar creases. Autistic features are uncommon. Note=The disease is caused
    by mutations affecting the gene represented in this entry

  • Selected diseases for ARID1B (see all 34):    About MalaCards
    arid1b-related coffin-siris syndrome    chromosome 6q25 microdeletion syndrome    mental retardation, autosomal dominant 12    nicolaides baraitser syndrome
    coffin-siris syndrome    ladd syndrome    acrocephalosyndactylia    synostosis
    brachydactyly    craniosynostosis    spinocerebellar ataxia    hypotonia
    short stature    intellectual disability    ataxia    labyrinthitis
    lymphoblastic leukemia    mental retardation    ischemia    breast and colorectal cancer

    4 diseases from the University of Copenhagen DISEASES database for ARID1B:
    Craniosynostosis     Coffin-Siris syndrome     Acrocephalosyndactylia     LADD syndrome

    ARID1B for disorders           About GeneDecksing

    Genetic Association Database (GAD): ARID1B
    Human Genome Epidemiology (HuGE) Navigator: ARID1B (3 documents)

    Export disorders for ARID1B gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ARID1B gene, integrated from 10 sources (see all 64):
    (articles sorted by number of sources associating them with ARID1B)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. (PubMed id 22426309)1, 2 Santen G.W.... Kriek M. (Nat. Genet. 2012)
    2. Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin- remodeling complex, is a frequent cause of intellectual disability. (PubMed id 22405089)1, 2 Hoyer J.... Reis A. (Am. J. Hum. Genet. 2012)
    3. Mutations affecting components of the SWI/SNF complex cause Coffin- Siris syndrome. (PubMed id 22426308)1, 2 Tsurusaki Y....Matsumoto N. (Nat. Genet. 2012)
    4. A genome-wide association study of serum uric acid in African Americans. (PubMed id 21294900)1, 4 Charles B.A....Rotimi C.N. (BMC Med Genomics 2011)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. The DNA-binding properties of the ARID-containing subunits of yeast and mammalian SWI/SNF complexes. (PubMed id 14982958)1, 2 Wilsker D....Moran E. (Nucleic Acids Res. 2004)
    7. Two related ARID family proteins are alternative subunits of human SWI/SNF complexes. (PubMed id 15170388)1, 2 Wang X.... Moran E. (Biochem. J. 2004)
    8. Novel SWI/SNF chromatin-remodeling complexes contain a mixed-lineage leukemia chromosomal translocation partner. (PubMed id 12665591)1, 2 Nie Z.... Wang W. (Mol. Cell. Biol. 2003)
    9. Recent advances in understanding chromatin remodeling by SWI/SNF complexes. (PubMed id 12672490)1, 2 Martens J.A. and Winston F. (Curr. Opin. Genet. Dev. 2003)
    10. The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (Nature 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 57492 HGNC: 18040 AceView: ARID1B Ensembl:ENSG00000049618 euGenes: HUgn57492
    ECgene: ARID1B H-InvDB: ARID1B

    (According to HUGE)
    About This Section

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    HUGE: KIAA1235

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ARID1B Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ARID1B gene:
    Search GeneIP for patents involving ARID1B

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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