• Gene id: 25841

Gene Summary

• Gene Symbol: ABTB2   Gene   UCSC   Ensembl
• Aliases: ABTB2A, BTBD22
• Gene name: ankyrin repeat and BTB domain containing 2
• Alternate names: ankyrin repeat and BTB/POZ domain-containing protein 2, ankyrin repeat and BTB (POZ) domain containing 2,
• Gene location: 11p13 (34358009: 34150986)     Exons: 17     NC_000011.10
• OMIM: 614781

Protein Summary

• Protein general information: Q8N961  
  • Name: Ankyrin repeat and BTB/POZ domain containing protein 2
  • Length: 1025  
  • Mass: 113656
• Sequence:

  MAGTYSSTLKTLEDLTLDSGYGAGDSCRSLSLSSSKSNSQALNSSAQQHRGAAWWCYSGSMNSRHNSWDTVNTVL
  PEDPEVADLFSRCPRLPELEEFPWTEGDVARVLRKGAGGRRLPQFSAEAVRRLAGLLRRALIRVAREAQRLSVLH
  AKCTRFEVQSAVRLVHSWALAESCALAAVKALSLYSMSAGDGLRRGKSARCGLTFSVGRFFRWMVDTRISVRIHE
  YAAISLTACMENLVEEIRARVMASHSPDGGGAGGGEVSAEALEMVINNDAELWGVLQPYEHLICGKNANGVLSLP
  AYFSPYNGGSLGHDERADAYAQLELRTLEQSLLATCVGSISELSDLVSRAMHHMQGRHPLCPGASPARQARQPPQ
  PITWSPDALHTLYYFLRCPQMESMENPNLDPPRMTLNNERPFMLLPPLMEWMRVAITYAEHRRSLTVDSGDIRQA
  ARLLLPGLDCEPRQLKPEHCFSSFRRLDARAATEKFNQDLGFRMLNCGRTDLINQAIEALGPDGVNTMDDQGMTP
  LMYACAAGDEAMVQMLIDAGANLDIQVPSNSPRHPSIHPDSRHWTSLTFAVLHGHISVVQLLLDAGAHVEGSAVN
  GGEDSYAETPLQLASAAGNYELVSLLLSRGADPLLSMLEAHGMGSSLHEDMNCFSHSAAHGHRNVLRKLLTQPQQ
  AKADVLSLEEILAEGVEESDASSQGSGSEGPVRLSRTRTKALQEAMYYSAEHGYVDITMELRALGVPWKLHIWIE
  SLRTSFSQSRYSVVQSLLRDFSSIREEEYNEELVTEGLQLMFDILKTSKNDSVIQQLATIFTHCYGSSPIPSIPE
  IRKTLPARLDPHFLNNKEMSDVTFLVEGKLFYAHKVLLVTASNRFKTLMTNKSEQDGDSSKTIEISDMKYHIFQM
  MMQYLYYGGTESMEIPTTDILELLSAASLFQLDALQRHCEILCSQTLSMESAVNTYKYAKIHNAPELALFCEGFF
  LKHMKALLEQDAFRQLIYGRSSKVQGLDPLQDLQNTLAERVHSVYITSRV

• Structural information:
  • Protein Domains: (845..91-)
    (/note="BTB-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00037"-)
  • Interpro: IPR002110  IPR020683  IPR036770  IPR000210  IPR009072   IPR011333  
  • Prosite: PS50297 PS50088 PS50097
  • STRING: ENSP00000410157
• Other Databases: GeneCards:  ABTB2  Malacards:  ABTB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0046982	protein heterodimerization activity	IEA	molecular function
GO:0097237	cellular response to toxic substance	IEA	biological process
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003674	molecular_function	ND	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R