ARID1B Gene
protein-coding GIFtS: 56
GCID: GC06P157191
|
|
AT rich interactive domain 1B (SWI1-like)
| |
Aliases
for ARID1B gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
| Aliases |
|---|
| AT Rich Interactive Domain 1B (SWI1-Like)1 2 | | BAF250b1 | | DAN151 2 3 | | BRIGHT2 | | 6A3-51 2 | | MRD122 | | ELD/OSA11 2 | | P250R2 | | KIAA12351 3 | | AT-Rich Interactive Domain-Containing Protein 1B2 | | P250R2 | | BRG1-Binding Protein ELD/OSA12 | | BAF250B2 3 | | ELD (Eyelid)/OSA Protein2 | | OSA22 3 | | BRG1-Binding Protein HELD/OSA13 | | ARID Domain-Containing Protein 1B2 3 | | HOsa21 | | BRG1-Associated Factor 250b2 3 | | Osa Homolog 23 |
Export aliases for ARID1B gene to outside databasesPrevious GC identifers: GC06P157130 GC06P154662 |
Summaries
for ARID1B gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
Entrez Gene summary for ARID1B:
This locus encodes an AT-rich DNA interacting domain-containing protein. The encoded protein is a component of theSWI/SNF chromatin remodeling complex and may play a role in cell-cycle activation. The protein encoded by this locusis similar to AT-rich interactive domain-containing protein 1A. These two proteins function as alternative, mutuallyexclusive ARID-subunits of the SWI/SNF complex. The associated complexes play opposing roles. Alternatively splicedtranscript variants encoding different isoforms have been described. (provided by RefSeq, Feb 2012)
UniProtKB/Swiss-Prot: ARI1B_HUMAN, Q8NFD5Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration ofDNA-nucleosome topology). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) andthe neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from astem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and becomecommitted to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neuronsrequires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis anddifferentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologousalternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAFcomplex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAFcomplex 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
|
Genomic Views
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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000006.11 NC_018917.1 NT_025741.15
Regulatory elements:
 SABiosciences 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
Search SABiosciences Chromatin IP Primers for ARID1B
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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: 6q25.3ARID1B Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 6 GeneLoc Exon Structure GeneLoc location for GC06P157191: 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 |
|
Proteins
for ARID1B gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
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 withARID1A/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 BAFcomplex 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 aSWI/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 aSWI/SNF-like complex containing ARID1A/BAF250A and ARID1B/BAF250B. Interacts through its C-terminus withSMARCA2/BRM/BAF190B and SMARCA4/BRG1/BAF190A. Interacts with SMARCC1/BAF155. Component of neural progenitors-specificchromatin 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 (nBAFcomplex) 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)
Subcellular location: Nucleus
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 Q9ULI5Alternative splicing: 4 isoforms: Q8NFD5-1 Q8NFD5-2 Q8NFD5-3 Q8NFD5-4 Explore the universe of human proteins at neXtProt for ARID1B: NX_Q8NFD5
Post-translational modifications:
View modification sites using PhosphoSitePlus2View neXtProt modification sites for NX_Q8NFD5
ARID1B Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins (2 alternative transcripts):
NP_059989.2 NP_065783.3
ENSEMBL proteins: ENSP00000344546 ENSP00000055163 ENSP00000412835 ENSP00000313006 ENSP00000383596 ENSP00000356116 ENSP00000275248
Human Recombinant Protein Products for ARID1B:
Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view): About this table
ARID1B for ontologies About GeneDecksing
ARID1B Antibody Products:
Assay Products for ARID1B: |
Protein
Domains /
Families
for ARID1B gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
ARID1B for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry Q8NFD5ProtoNet protein and cluster: Q8NFD5 1 Blocks protein family: IPB001606 ARID (AT-rich interaction domain) protein
UniProtKB/Swiss-Prot: ARI1B_HUMAN, Q8NFD5Similarity: Contains 1 ARID domain |
Function
for ARID1B gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
inGenious Targeting Laboratory,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase,
shRNA from
OriGene,
Sirion Biotech,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Sirion Biotech,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
Sirion Biotech,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
Molecular Function:
UniProtKB/Swiss-Prot Summary: ARI1B_HUMAN, Q8NFD5Function: Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration ofDNA-nucleosome topology). Belongs to the neural progenitors-specific chromatin remodeling complex (npBAF complex) andthe neuron-specific chromatin remodeling complex (nBAF complex). During neural development a switch from astem/progenitor to a post-mitotic chromatin remodeling mechanism occurs as neurons exit the cell cycle and becomecommitted to their adult state. The transition from proliferating neural stem/progenitor cells to post-mitotic neuronsrequires a switch in subunit composition of the npBAF and nBAF complexes. As neural progenitors exit mitosis anddifferentiate into neurons, npBAF complexes which contain ACTL6A/BAF53A and PHF10/BAF45A, are exchanged for homologousalternative ACTL6B/BAF53B and DPF1/BAF45B or DPF3/BAF45C subunits in neuron-specific complexes (nBAF). The npBAFcomplex is essential for the self-renewal/proliferative capacity of the multipotent neural stem cells. The nBAFcomplex along with CREST plays a role regulating the activity of genes essential for dendrite growth (By similarity).Binds DNA non-specifically Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table
ARID1B for ontologies About GeneDecksing
Phenotypes:
3 GenomeRNAi human phenotypes for ARID1B:
Animal Models:
Clone
Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ARID1B (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ARID1B (see all 3)
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 |
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARID1B |
|
Pathways & Interactions
for ARID1B gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Unified GeneCards pathways About this table
See pathways by source
| Super-pathway | contained gene-specific pathways |
|---|
| 1 | Development_Ligand-dependent activation of the ESR1/AP-1 pathway | |
Pathway sources
See GeneCards unified pathways
Show all pathways
2 EMD Millipore Pathways for ARID1B
2  GeneGo (Thomson Reuters) Pathways for ARID1B
ARID1B for pathways About GeneDecksing
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ARID1B
STRING Interaction
Network Preview (showing 5 interactants - click image to see 25)
5/45 Interacting proteins for ARID1B (Q8NFD51, 2, 3 ENSP000002752484) via UniProtKB, MINT, STRING, and/or I2D (see all 45)About this table
Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0006351 | transcription, DNA-dependent |
IEA | -- | | GO:0007399 | nervous system development |
IEA | -- | | GO:0048096 | chromatin-mediated maintenance of transcription |
NAS | 11734557 |
ARID1B for ontologies About GeneDecksing
|
Drugs & Compounds
for ARID1B gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for ARID1B
Search CenterWatch for drugs/clinical trials and news about ARID1B / ARI1B
|
Transcripts
for ARID1B gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
Sirion Biotech,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
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_02073211 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000346085 ENST00000350026 ENST00000414678 ENST00000494260 ENST00000319584
ENST00000452544(uc003qqq.1) ENST00000493658 ENST00000478761 ENST00000400790
ENST00000367148(uc003qqo.3 uc003qqp.3 uc003qqn.3) ENST00000275248
Clone
Products: | | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ARID1B (see all 3)
OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ARID1B (see all 3)
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) | | | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for ARID1B | | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ARID1B |
Additional cDNA 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 24/170 AceView cDNA sequences (see all 170): AK000921 AA383798 BX489511 AA088585 AA749153 BU682132 AA170810 CR591960 CD675917 AK025945 BF056023 AA836063 BM013691 AK074180 Z38897 AF521671 AA253270 F06413 AA570079 AW268592 CD642355 AA456547 BQ425418 BC009543
GeneLoc Exon Structure
5/10 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
|
Expression
for ARID1B gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| ARID1B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTAAGAATAA
About this image
See ARID1B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ARID1B
SOURCE GeneReport for Unigene cluster: Hs.291587
UniProtKB/Swiss-Prot: ARI1B_HUMAN, Q8NFD5Tissue specificity: Widely expressed with high levels in heart, skeletal muscle and kidney
SABiosciences Expression via Pathway-Focused PCR Arrays including ARID1B: | Polycomb & Trithorax Complexes in human mouse rat | | Epigenetic Chromatin Remodeling Factors in human mouse rat |
Primer
Products: | | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ARID1B
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ARID1B | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ARID1B | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ARID1B | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ARID1B |
Orthologs
for ARID1B gene
(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
|
This gene was present in the common ancestor of eukaryotes.
Orthologs for ARID1B gene from 6/21 species (see all 21) About this table
ENSEMBL Gene Tree for ARID1B (if available)
TreeFam Gene Tree for ARID1B (if available) |
Paralogs
for ARID1B gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| Paralogs for ARID1B gene
- ARID3C2 ARID3A2 ARID1A2 ARID3B2
3 SIMAP similar genes for ARID1B using alignment to 6 protein entries: ARI1B_HUMAN (see all proteins):FLJ00253 ARID1A ARID1A variant protein
ARID1B for paralogs About GeneDecksing
|
Genomic Variants
for ARID1B gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
UniProtKB/Swiss-Prot: ARI1B_HUMAN, Q8NFD5Polymorphism: The poly-Gln region is polymorphic and the number of Gln varies in the population (from 17 to 23)
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 6 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for ARID1B (157099063 - 157349063 bp, first 250kb of ARID1B)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 8 variations for ARID1B
7 CNVs: 94131 81669 94133 7533 94132 81668 81670
1 Indel: 69628
Human Gene Mutation Database (HGMD): ARID1B
| SABiosciences Cancer Mutation PCR Assays |
| | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ARID1B |
|
Disorders
/ Diseases
for ARID1B gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
ARID1B for disorders About GeneDecksing
OMIM gene information: 614556
OMIM disorders: --
UniProtKB/Swiss-Prot: ARI1B_HUMAN, Q8NFD5
Defects in ARID1B are the cause of mental retardation autosomal dominant type 12 (MRD12) [MIM:614562]. Adisorder characterized by significantly below average general intellectual functioning associated with impairments inadaptative behavior and manifested during the developmental period. MRD12 patients present with moderate to severepsychomotor retardation, and most show evidence of muscular hypotonia. In many patients, expressive speech is moreseverely affected than receptive function. Additional common findings include short stature, abnormal head shape andlow-set, posteriorly rotated, and abnormally shaped ears, downslanting palpebral fissures, a bulbous nasal tip, a thinupper lip, minor teeth anomalies, and brachydactyly or single palmar creases. Autistic features are uncommon
14  diseases for ARID1B: About MalaCardscoffin-siris syndrome ladd syndrome acrocephalosyndactylia spinocerebellar ataxia
acute lymphoblastic leukemia lymphoblastic leukemia synostosis craniosynostosis
ataxia hematopoiesis leukemia ischemia
neuronitis intellectual disability
4 diseases from the University of Copenhagen DISEASES database for ARID1B:Craniosynostosis Coffin-Siris syndrome Acrocephalosyndactylia LADD syndrome Human Genome Epidemiology (HuGE) Navigator: ARID1B (3 documents)
Export disorders for ARID1B gene to outside databases
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Publications
for ARID1B gene (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 9 sources (see all 52):
(articles sorted by number of sources associating them with ARID1B) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome. (PubMed id 22426309)1, 2 Santen G.W.... Kriek M. (2012)
- 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. (2012)
- 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. (2004)
- Two related ARID family proteins are alternative subunits of human SWI/SNF complexes. (PubMed id 15170388)1, 2 Wang X.... Moran E. (2004)
- Recent advances in understanding chromatin remodeling by SWI/SNF complexes. (PubMed id 12672490)1, 2 Martens J.A. and Winston F. (2003)
- The DNA sequence and analysis of human chromosome 6. (PubMed id 14574404)1, 2 Mungall A.J.... Beck S. (2003)
- Novel SWI/SNF chromatin-remodeling complexes contain a mixed-lineage leukemia chromosomal translocation partner. (PubMed id 12665591)1, 2 Nie Z.... Wang W. (2003)
- Cloning and characterization of hELD/OSA1, a novel BRG1 interacting protein. (PubMed id 11988099)1, 2 Hurlstone A.F.... Clevers H. (2002)
- Largest subunits of the human SWI/SNF chromatin-remodeling complex promote transcriptional activation by steroid hormone receptors. (PubMed id 12200431)1, 2 Inoue H....Tanese N. (2002)
- SYT associates with human SNF/SWI complexes and the C-terminal region of its fusion partner SSX1 targets histones. (PubMed id 11734557)1, 2 Kato H.... Roeder R.G. (2002)
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External Searches for ARID1B gene
(in PubMed,
OMIM, and NCBI Bookshelf)
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Genome Databases showing ARID1B gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
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Other Databases showing ARID1B gene
(According to HUGE)
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Specialized Databases showing ARID1B gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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| Name | Description |
| PharmGKB entry for ARID1B | Pharmacogenomics, SNPs, Pathways |
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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
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Products
for ARID1B gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
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