• Gene id: 196528

Gene Summary

• Gene Symbol: ARID2   Gene   UCSC   Ensembl
• Aliases: BAF200, CSS6, p200
• Gene name: AT-rich interaction domain 2
• Alternate names: AT-rich interactive domain-containing protein 2, 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,
• Gene location: 12q12 (45729705: 45908036)     Exons: 24     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 609539

Protein Summary

• Protein general information: Q68CP9  
  • Name: AT rich interactive domain containing protein 2 (ARID domain containing protein 2) (BRG1 associated factor 200) (BAF200) (Zinc finger protein with activation potential) (Zipzap/p200)
  • Length: 1835  
  • Mass: 197391
  • Tissue specificity: Highly expressed in heart. {ECO
• Sequence:

  MANSTGKAPPDERRKGLAFLDELRQFHHSRGSPFKKIPAVGGKELDLHGLYTRVTTLGGFAKVSEKNQWGEIVEE
  FNFPRSCSNAAFALKQYYLRYLEKYEKVHHFGEDDDEVPPGNPKPQLPIGAIPSSYNYQQHSVSDYLRQSYGLSM
  DFNSPNDYNKLVLSLLSGLPNEVDFAINVCTLLSNESKHVMQLEKDPKIITLLLANAGVFDDTLGSFSTVFGEEW
  KEKTDRDFVKFWKDIVDDNEVRDLISDRNKSHEGTSGEWIWESLFHPPRKLGINDIEGQRVLQIAVILRNLSFEE
  GNVKLLAANRTCLRFLLLSAHSHFISLRQLGLDTLGNIAAELLLDPVDFKTTHLMFHTVTKCLMSRDRFLKMRGM
  EILGNLCKAEDNGVLICEYVDQDSYREIICHLTLPDVLLVISTLEVLYMLTEMGDVACTKIAKVEKSIDMLVCLV
  SMDIQMFGPDALAAVKLIEHPSSSHQMLSEIRPQAIEQVQTQTHVASAPASRAVVAQHVAPPPGIVEIDSEKFAC
  QWLNAHFEVNPDCSVSRAEMYSEYLSTCSKLARGGILTSTGFYKCLRTVFPNHTVKRVEDSSSNGQAHIHVVGVK
  RRAIPLPIQMYYQQQPVSTSVVRVDSVPDVSPAPSPAGIPHGSQTIGNHFQRTPVANQSSNLTATQMSFPVQGVH
  TVAQTVSRIPQNPSPHTHQQQNAPVTVIQSKAPIPCEVVKATVIQNSIPQTGVPVSIAVGGGPPQSSVVQNHSTG
  PQPVTVVNSQTLLHHPSVIPQQSPLHTVVPGQIPSGTPVTVIQQAVPQSHMFGRVQNIPACTSTVSQGQQLITTS
  PQPVQTSSQQTSAGSQSQDTVIIAPPQYVTTSASNIVSATSVQNFQVATGQMVTIAGVPSPQASRVGFQNIAPKP
  LPSQQVSSTVVQQPIQQPQQPTQQSVVIVSQPAQQGQTYAPAIHQIVLANPAALPAGQTVQLTGQPNITPSSSPS
  PVPATNNQVPTAMSSSSTPQSQGPPPTVSQMLSVKRQQQQQHSPAPPPQQVQVQVQQPQQVQMQVQPQQSNAGVG
  QPASGESSLIKQLLLPKRGPSTPGGKLILPAPQIPPPNNARAPSPQVVYQVASNQAAGFGVQGQTPAQQLLVGQQ
  NVQLVPSAMPPSGGVQTVPISNLQILPGPLISNSPATIFQGTSGNQVTITVVPNTSFAPATVSQGNATQLIAPAG
  ITMSGTQTGVGLPVQTLPATQASPAGQSSCTTATPPFKGDKIICQKEEEAKEATGLHVHERKIEVMENPSCRRGA
  TNTSNGDTKENEMHVGSLLNGRKYSDSSLPPSNSGKIQSETNQCSLISNGPSLELGENGASGKQNSEQIDMQDIK
  SDLRKPLVNGICDFDKGDGSHLSKNIPNHKTSNHVGNGEISPMEPQGTLDITQQDTAKGDQLERISNGPVLTLGG
  SSVSSIQEASNAATQQFSGTDLLNGPLASSLNSDVPQQRPSVVVSPHSTTSVIQGHQIIAVPDSGSKVSHSPALS
  SDVRSTNGTAECKTVKRPAEDTDRETVAGIPNKVGVRIVTISDPNNAGCSATMVAVPAGADPSTVAKVAIESAVQ
  QKQQHPPTYVQNVVPQNTPMPPSPAVQVQGQPNSSQPSPFSGSSQPGDPMRKPGQNFMCLWQSCKKWFQTPSQVF
  YHAATEHGGKDVYPGQCLWEGCEPFQRQRFSFITHLQDKHCSKDALLAGLKQDEPGQAGSQKSSTKQPTVGGTSS
  TPRAQKAIVNHPSAALMALRRGSRNLVFRDFTDEKEGPITKHIRLTAALILKNIGKYSECGRRLLKRHENNLSVL
  AISNMEASSTLAKCLYELNFTVQSKEQEKDSEMLQ

• Structural information:
  • Protein Domains: (13..10-)
    (/note="ARID-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00355"-)
  • Interpro: IPR001606  IPR036431  IPR016024  IPR003150  IPR036388   IPR036390  IPR013087  
  • Prosite: PS51011 PS51526 PS00028
  • DIP: 33391
  • STRING: ENSP00000335044
• Other Databases: GeneCards:  ARID2  Malacards:  ARID2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:1905168	positive regulation of double-strand break repair via homologous recombination	IMP	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042592	homeostatic process	IEA	biological process
GO:0072358	cardiovascular system development	IEA	biological process
GO:0060982	coronary artery morphogenesis	IEA	biological process
GO:0060038	cardiac muscle cell proliferation	IEA	biological process
GO:0048568	embryonic organ development	IEA	biological process
GO:0003007	heart morphogenesis	IEA	biological process
GO:0006337	nucleosome disassembly	IDA	biological process
GO:0030336	negative regulation of cell migration	IDA	biological process
GO:0008285	negative regulation of cell population proliferation	IDA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa05225	Hepatocellular carcinoma

Diseases

Associated diseases	References
Coffin-Siris syndrome	KEGG:H01403
Hepatocellular carcinoma	KEGG:H00048
Coffin-Siris syndrome	KEGG:H01403
Hepatocellular carcinoma	KEGG:H00048
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray