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 (S... See more...

Aliases for ARID2 Gene

Aliases for ARID2 Gene

  • AT-Rich Interaction Domain 2 2 3 5
  • AT-Rich Interactive Domain-Containing Protein 2 3 4
  • Zinc Finger Protein With Activation Potential 3 4
  • AT Rich Interactive Domain 2 (ARID, RFX-Like) 2 3
  • ARID Domain-Containing Protein 2 3 4
  • BRG1-Associated Factor 200 3 4
  • Zipzap/P200 3 4
  • BAF200 3 4
  • KIAA1557 4
  • CSS6 3
  • P200 3

External Ids for ARID2 Gene

Previous GeneCards Identifiers for ARID2 Gene

  • GC12P044410
  • GC12P044411
  • GC12P044408
  • GC12P046123
  • GC12P043152

Summaries for ARID2 Gene

Entrez Gene Summary for ARID2 Gene

  • 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]

GeneCards Summary for ARID2 Gene

ARID2 (AT-Rich Interaction Domain 2) is a Protein Coding gene. Diseases associated with ARID2 include Coffin-Siris Syndrome 6 and Coffin-Siris Syndrome 1. Among its related pathways are Chromatin organization and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Gene Ontology (GO) annotations related to this gene include binding.

UniProtKB/Swiss-Prot Summary for ARID2 Gene

  • Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). May be involved in targeting the complex to different genes. May be involved in regulating transcriptional activation of cardiac genes.

Gene Wiki entry for ARID2 Gene

Additional gene information for ARID2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ARID2 Gene

Genomics for ARID2 Gene

GeneHancer (GH) Regulatory Elements for ARID2 Gene

Promoters and enhancers for ARID2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ARID2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ARID2 gene promoter:
  • Nkx2-5

Genomic Locations for ARID2 Gene

Genomic Locations for ARID2 Gene
chr12:45,729,689-45,908,040
(GRCh38/hg38)
Size:
178,352 bases
Orientation:
Plus strand
chr12:46,123,448-46,301,823
(GRCh37/hg19)
Size:
178,376 bases
Orientation:
Plus strand

Genomic View for ARID2 Gene

Genes around ARID2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ARID2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ARID2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ARID2 Gene

Proteins for ARID2 Gene

  • Protein details for ARID2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q68CP9-ARID2_HUMAN
    Recommended name:
    AT-rich interactive domain-containing protein 2
    Protein Accession:
    Q68CP9
    Secondary Accessions:
    • Q15KG9
    • Q5EB51
    • Q645I3
    • Q6ZRY5
    • Q7Z3I5
    • Q86T28
    • Q96SJ6
    • Q9HCL5

    Protein attributes for ARID2 Gene

    Size:
    1835 amino acids
    Molecular mass:
    197391 Da
    Quaternary structure:
    • Component of the SWI/SNF-B (PBAF) chromatin remodeling complex, at least composed of SMARCA4/BRG1, SMARCB1/BAF47/SNF5, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, perhaps SMARCD3/BAF60C, SMARCC1/BAF155, SMARCC2/BAF170, PBRM1/BAF180, ARID2/BAF200 and actin. Interacts with SRF. Forms complexes with SRF and SRF cofactors MYOCD, NKX2-5 and SRFBP1.
    SequenceCaution:
    • Sequence=AAU20329.2; Type=Miscellaneous discrepancy; Note=Differs from position 1094 onward for unknown reason.; Evidence={ECO:0000305}; Sequence=BAB55320.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAC87171.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Cloning artifact.; Evidence={ECO:0000305};

    Alternative splice isoforms for ARID2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ARID2 Gene

Post-translational modifications for ARID2 Gene

  • Ubiquitination at Lys7, Lys15, Lys62, Lys1731, and Lys1777
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ARID2 Gene

Domains & Families for ARID2 Gene

Gene Families for ARID2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for ARID2 Gene

GenScript: Design optimal peptide antigens:
  • Zipzap/p200 (ARID2_HUMAN)
  • ARID2 protein (Q4G0S8_HUMAN)
  • ARID2 protein (Q8WV72_HUMAN)
genes like me logo Genes that share domains with ARID2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for ARID2 Gene

Function for ARID2 Gene

Molecular function for ARID2 Gene

UniProtKB/Swiss-Prot Function:
Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Required for the stability of the SWI/SNF chromatin remodeling complex SWI/SNF-B (PBAF). May be involved in targeting the complex to different genes. May be involved in regulating transcriptional activation of cardiac genes.

Phenotypes From GWAS Catalog for ARID2 Gene

Gene Ontology (GO) - Molecular Function for ARID2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific ISA --
GO:0003676 nucleic acid binding IEA --
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 15985610
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with ARID2: view
genes like me logo Genes that share phenotypes with ARID2: view

Human Phenotype Ontology for ARID2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ARID2 Gene

MGI Knock Outs for ARID2:
  • Arid2 Arid2<tm1a(EUCOMM)Wtsi>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ARID2 Gene

Localization for ARID2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ARID2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ARID2 gene
Compartment Confidence
nucleus 5
plasma membrane 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Plasma membrane (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ARID2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA --
GO:0005886 plasma membrane IDA --
genes like me logo Genes that share ontologies with ARID2: view

Pathways & Interactions for ARID2 Gene

genes like me logo Genes that share pathways with ARID2: view

Pathways by source for ARID2 Gene

1 KEGG pathway for ARID2 Gene
1 Cell Signaling Technology pathway for ARID2 Gene

Gene Ontology (GO) - Biological Process for ARID2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003007 heart morphogenesis IEA --
GO:0006325 chromatin organization IEA --
GO:0006337 nucleosome disassembly IDA 8895581
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription by RNA polymerase II IEA --
genes like me logo Genes that share ontologies with ARID2: view

No data available for SIGNOR curated interactions for ARID2 Gene

Drugs & Compounds for ARID2 Gene

No Compound Related Data Available

Transcripts for ARID2 Gene

mRNA/cDNA for ARID2 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ARID2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10a · 10b · 10c ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - -
SP2: -
SP3: - -
SP4: - - -
SP5: - - - - - - - - - - - - - - - -
SP6:
SP7:

ExUns: 20 ^ 21 ^ 22 ^ 23
SP1: -
SP2: -
SP3:
SP4: -
SP5: -
SP6:
SP7:

Relevant External Links for ARID2 Gene

GeneLoc Exon Structure for
ARID2
ECgene alternative splicing isoforms for
ARID2

Expression for ARID2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ARID2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ARID2 Gene

This gene is overexpressed in Stomach (35.8) and Esophagus (14.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ARID2 Gene



Protein tissue co-expression partners for ARID2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ARID2 Gene:

ARID2

SOURCE GeneReport for Unigene cluster for ARID2 Gene:

Hs.317304

mRNA Expression by UniProt/SwissProt for ARID2 Gene:

Q68CP9-ARID2_HUMAN
Tissue specificity: Highly expressed in heart.

Evidence on tissue expression from TISSUES for ARID2 Gene

  • Nervous system(4.4)
  • Liver(4.3)
  • Heart(4.2)
genes like me logo Genes that share expression patterns with ARID2: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ARID2 Gene

Orthologs for ARID2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ARID2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ARID2 33 32
  • 99.04 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 97 (a)
OneToMany
-- 33
  • 84 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ARID2 33 32
  • 94.91 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ARID2 33 32
  • 94.71 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ARID2 33
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Arid2 17 33 32
  • 88.98 (n)
rat
(Rattus norvegicus)
Mammalia Arid2 32
  • 88.15 (n)
chicken
(Gallus gallus)
Aves ARID2 33 32
  • 84.65 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ARID2 33
  • 84 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia arid2 32
  • 76.65 (n)
Str.6901 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.6507 32
zebrafish
(Danio rerio)
Actinopterygii arid2 33 32
  • 63.15 (n)
OneToOne
wufi45a01 32
fruit fly
(Drosophila melanogaster)
Insecta Bap170 33
  • 24 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea swsn-7 33
  • 26 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5262 33
  • 29 (a)
OneToOne
Species where no ortholog for ARID2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ARID2 Gene

ENSEMBL:
Gene Tree for ARID2 (if available)
TreeFam:
Gene Tree for ARID2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ARID2: view image

Paralogs for ARID2 Gene

Pseudogenes.org Pseudogenes for ARID2 Gene

genes like me logo Genes that share paralogs with ARID2: view

No data available for Paralogs for ARID2 Gene

Variants for ARID2 Gene

Sequence variations from dbSNP and Humsavar for ARID2 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1555139310 pathogenic, COFFIN-SIRIS SYNDROME 6 45,730,106(+) CC/C coding_sequence_variant, frameshift, genic_upstream_transcript_variant, non_coding_transcript_variant
rs1555149372 uncertain-significance, Inborn genetic diseases 45,817,793(+) C/T coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant
rs1555154946 pathogenic, COFFIN-SIRIS SYNDROME 6 45,850,644(+) C/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs1555155110 likely-pathogenic, Adenoid cystic carcinoma 45,851,112(+) C/T coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs1555155252 pathogenic, COFFIN-SIRIS SYNDROME 6 45,851,534(+) AG/ coding_sequence_variant, frameshift, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ARID2 Gene

Variant ID Type Subtype PubMed ID
esv2516965 CNV insertion 19546169
esv2759897 CNV loss 17122850
esv3376982 CNV insertion 20981092
esv3379296 CNV duplication 20981092
esv3629391 CNV loss 21293372
esv3629393 CNV loss 21293372
nsv1116500 OTHER inversion 24896259
nsv1125544 CNV tandem duplication 24896259
nsv1129365 OTHER inversion 24896259
nsv1138128 CNV deletion 24896259
nsv558782 CNV loss 21841781
nsv832396 CNV loss 17160897
nsv832397 CNV loss 17160897

Variation tolerance for ARID2 Gene

Residual Variation Intolerance Score: 1.78% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.80; 58.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ARID2 Gene

Human Gene Mutation Database (HGMD)
ARID2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ARID2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ARID2 Gene

Disorders for ARID2 Gene

MalaCards: The human disease database

(8) MalaCards diseases for ARID2 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
coffin-siris syndrome 6
  • css6
coffin-siris syndrome 1
  • css1
urethra adenocarcinoma
  • adenocarcinoma of the urethra
urethra clear cell adenocarcinoma
  • clear cell adenocarcinoma of the urethra
urethra cancer
  • cancer of urethra
- elite association - COSMIC cancer census association via MalaCards
Search ARID2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ARID2_HUMAN
  • Coffin-Siris syndrome 6 (CSS6) [MIM:617808]: A form of Coffin-Siris syndrome, a congenital multiple malformation syndrome with broad phenotypic and genetic variability. Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges. Additional features include malformations of the cardiac, gastrointestinal, genitourinary, and/or central nervous systems. Sucking/feeding difficulties, poor growth, ophthalmologic abnormalities, hearing impairment, and spinal anomalies are common findings. Both autosomal dominant and autosomal recessive inheritance patterns have been reported. CSS6 inheritance is autosomal dominant. {ECO:0000269 PubMed:26238514, ECO:0000269 PubMed:28124119, ECO:0000269 PubMed:28884947}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ARID2

genes like me logo Genes that share disorders with ARID2: view

No data available for Genatlas for ARID2 Gene

Publications for ARID2 Gene

  1. Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability. (PMID: 28884947) Van Paemel R … Callewaert B (American journal of medical genetics. Part A 2017) 3 4 56
  2. Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype. (PMID: 28124119) Bramswig NC … Wieczorek D (Human genetics 2017) 3 4 56
  3. Mutations in ARID2 are associated with intellectual disabilities. (PMID: 26238514) Shang L … Chung WK (Neurogenetics 2015) 3 4 56
  4. Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease. (PMID: 19668339) Potkin SG … Alzheimer's Disease Neuroimaging Initiative (PloS one 2009) 3 43 56
  5. Zipzap/p200 is a novel zinc finger protein contributing to cardiac gene regulation. (PMID: 16782067) Zhang X … Wei JY (Biochemical and biophysical research communications 2006) 3 4 56

Products for ARID2 Gene

Sources for ARID2 Gene