ARID2
AT-rich interactive domain-containing protein 2
Also known as: ARID2_HUMAN, BAF200, DKFZp686G052, FLJ30619, KIAA1557, SMARCF3
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q68CP9
- Gene
- ARID2
- Ensembl
- ENSG00000189079
- Chromosome
- 12
- Canonical length
- 1835 aa
- Protein class
- Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins, Transcription factors
- Subcellular location
- Nucleoplasm
OverviewNCBI 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]
Canonical amino-acid sequenceUniProt
1835 residues, UniProt reviewed canonical sequence.
>Q68CP9|ARID2
1 MANSTGKAPP DERRKGLAFL DELRQFHHSR GSPFKKIPAV GGKELDLHGL YTRVTTLGGF
61 AKVSEKNQWG EIVEEFNFPR SCSNAAFALK QYYLRYLEKY EKVHHFGEDD DEVPPGNPKP
121 QLPIGAIPSS YNYQQHSVSD YLRQSYGLSM DFNSPNDYNK LVLSLLSGLP NEVDFAINVC
181 TLLSNESKHV MQLEKDPKII TLLLANAGVF DDTLGSFSTV FGEEWKEKTD RDFVKFWKDI
241 VDDNEVRDLI SDRNKSHEGT SGEWIWESLF HPPRKLGIND IEGQRVLQIA VILRNLSFEE
301 GNVKLLAANR TCLRFLLLSA HSHFISLRQL GLDTLGNIAA ELLLDPVDFK TTHLMFHTVT
361 KCLMSRDRFL KMRGMEILGN LCKAEDNGVL ICEYVDQDSY REIICHLTLP DVLLVISTLE
421 VLYMLTEMGD VACTKIAKVE KSIDMLVCLV SMDIQMFGPD ALAAVKLIEH PSSSHQMLSE
481 IRPQAIEQVQ TQTHVASAPA SRAVVAQHVA PPPGIVEIDS EKFACQWLNA HFEVNPDCSV
541 SRAEMYSEYL STCSKLARGG ILTSTGFYKC LRTVFPNHTV KRVEDSSSNG QAHIHVVGVK
601 RRAIPLPIQM YYQQQPVSTS VVRVDSVPDV SPAPSPAGIP HGSQTIGNHF QRTPVANQSS
661 NLTATQMSFP VQGVHTVAQT VSRIPQNPSP HTHQQQNAPV TVIQSKAPIP CEVVKATVIQ
721 NSIPQTGVPV SIAVGGGPPQ SSVVQNHSTG PQPVTVVNSQ TLLHHPSVIP QQSPLHTVVP
781 GQIPSGTPVT VIQQAVPQSH MFGRVQNIPA CTSTVSQGQQ LITTSPQPVQ TSSQQTSAGS
841 QSQDTVIIAP PQYVTTSASN IVSATSVQNF QVATGQMVTI AGVPSPQASR VGFQNIAPKP
901 LPSQQVSSTV VQQPIQQPQQ PTQQSVVIVS QPAQQGQTYA PAIHQIVLAN PAALPAGQTV
961 QLTGQPNITP SSSPSPVPAT NNQVPTAMSS SSTPQSQGPP PTVSQMLSVK RQQQQQHSPA
1021 PPPQQVQVQV QQPQQVQMQV QPQQSNAGVG QPASGESSLI KQLLLPKRGP STPGGKLILP
1081 APQIPPPNNA RAPSPQVVYQ VASNQAAGFG VQGQTPAQQL LVGQQNVQLV PSAMPPSGGV
1141 QTVPISNLQI LPGPLISNSP ATIFQGTSGN QVTITVVPNT SFAPATVSQG NATQLIAPAG
1201 ITMSGTQTGV GLPVQTLPAT QASPAGQSSC TTATPPFKGD KIICQKEEEA KEATGLHVHE
1261 RKIEVMENPS CRRGATNTSN GDTKENEMHV GSLLNGRKYS DSSLPPSNSG KIQSETNQCS
1321 LISNGPSLEL GENGASGKQN SEQIDMQDIK SDLRKPLVNG ICDFDKGDGS HLSKNIPNHK
1381 TSNHVGNGEI SPMEPQGTLD ITQQDTAKGD QLERISNGPV LTLGGSSVSS IQEASNAATQ
1441 QFSGTDLLNG PLASSLNSDV PQQRPSVVVS PHSTTSVIQG HQIIAVPDSG SKVSHSPALS
1501 SDVRSTNGTA ECKTVKRPAE DTDRETVAGI PNKVGVRIVT ISDPNNAGCS ATMVAVPAGA
1561 DPSTVAKVAI ESAVQQKQQH PPTYVQNVVP QNTPMPPSPA VQVQGQPNSS QPSPFSGSSQ
1621 PGDPMRKPGQ NFMCLWQSCK KWFQTPSQVF YHAATEHGGK DVYPGQCLWE GCEPFQRQRF
1681 SFITHLQDKH CSKDALLAGL KQDEPGQAGS QKSSTKQPTV GGTSSTPRAQ KAIVNHPSAA
1741 LMALRRGSRN LVFRDFTDEK EGPITKHIRL TAALILKNIG KYSECGRRLL KRHENNLSVL
1801 AISNMEASST LAKCLYELNF TVQSKEQEKD SEMLQLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ARID2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Intracellular
- Secreted
- No
- Transmembrane segments
- 0
- Mean surface accessibility (rSASA)
- 0.55
- Highest tissue expression
- 24 nTPM
Expression across tissuesHPA
Tissue
- testis: 24 nTPM
- thymus: 18 nTPM
- retina: 12 nTPM
- bone marrow: 12 nTPM
- parathyroid gland: 11 nTPM
- skin: 9.6 nTPM
Single-cell type
- early spermatids: 699 nCPM
- neutrophil progenitors: 559 nCPM
- myonuclei: 443 nCPM
- choroid plexus epithelial cells: 433 nCPM
- neutrophils: 355 nCPM
- hematopoietic stem cells: 312 nCPM
Immune cell
- basophil: 10 nTPM
- non-classical monocyte: 3.5 nTPM
- plasmacytoid DC: 3.3 nTPM
- eosinophil: 2.8 nTPM
- MAIT T-cell: 2.6 nTPM
- memory CD8 T-cell: 2.5 nTPM
Brain region
- cerebellum: 35 nTPM
- choroid plexus: 28 nTPM
- white matter: 26 nTPM
- medulla oblongata: 23 nTPM
- basal ganglia: 23 nTPM
- hypothalamus: 22 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ARID2.
Disease | AllUniProt
Conditions ARID2 is implicated in, by any mechanism.
- Coffin-Siris syndrome 6 (CSS6) MIM:617808
Disease | GeneticClinVar
106 pathogenic / likely-pathogenic of 579 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Coffin-Siris syndrome 6
- Inborn genetic diseases
- ARID2-related BAFopathy
- Neurodevelopmental disorder
- ARID2-related disorder
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.1
- gnomAD pLI
- 1
- gnomAD missense Z
- 2.73
- DepMap mean gene effect
- -0.36
- DepMap dependency class
- selective
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- cardiac muscle cell proliferation
- chromatin remodeling
- coronary artery morphogenesis
- embryonic organ development
- heart morphogenesis
- homeostatic process
- negative regulation of cell migration
- negative regulation of cell population proliferation
- nucleosome disassembly
- positive regulation of cell differentiation
- positive regulation of double-strand break repair
- positive regulation of double-strand break repair via homologous recombination
- positive regulation of myoblast differentiation
- positive regulation of T cell differentiation
- regulation of G0 to G1 transition
- regulation of G1/S transition of mitotic cell cycle
- regulation of mitotic metaphase/anaphase transition
- regulation of nucleotide-excision repair
- regulation of transcription by RNA polymerase II
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
- ARID DNA-binding domain
- DNA-binding RFX-type winged-helix domain
- Zinc finger C2H2-type
- Armadillo-type fold
- Winged helix-like DNA-binding domain superfamily
- Winged helix DNA-binding domain superfamily
- ARID DNA-binding domain superfamily
- ARID/BRIGHT DNA binding domain
- RFX DNA-binding domain
- Chromatin Remodeling Complex Component
KeywordsUniProt
InteractionsUniProt · HPA
Protein binding partners of ARID2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ARID2 as an antibody target. Whether an autoantibody or antibody against ARID2 could matter depends on whether native ARID2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ARID2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.
Annotation status
The present source text does not explicitly label ARID2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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