• Gene id: 84164

Gene Summary

• Gene Symbol: ASCC2   Gene   UCSC   Ensembl
• Aliases: ASC1p100, p100
• Gene name: activating signal cointegrator 1 complex subunit 2
• Alternate names: activating signal cointegrator 1 complex subunit 2, ASC-1 complex subunit P100, trip4 complex subunit p100,
• Gene location: 22q12.2 (29838281: 29788607)     Exons: 24     NC_000022.11

Protein Summary

• Protein general information: Q9H1I8  
  • Name: Activating signal cointegrator 1 complex subunit 2 (ASC 1 complex subunit p100) (Trip4 complex subunit p100)
  • Length: 757  
  • Mass: 86360
  • Tissue specificity: Ubiquitous. {ECO
• Sequence:

  MPALPLDQLQITHKDPKTGKLRTSPALHPEQKADRYFVLYKPPPKDNIPALVEEYLERATFVANDLDWLLALPHD
  KFWCQVIFDETLQKCLDSYLRYVPRKFDEGVASAPEVVDMQKRLHRSVFLTFLRMSTHKESKDHFISPSAFGEIL
  YNNFLFDIPKILDLCVLFGKGNSPLLQKMIGNIFTQQPSYYSDLDETLPTILQVFSNILQHCGLQGDGANTTPQK
  LEERGRLTPSDMPLLELKDIVLYLCDTCTTLWAFLDIFPLACQTFQKHDFCYRLASFYEAAIPEMESAIKKRRLE
  DSKLLGDLWQRLSHSRKKLMEIFHIILNQICLLPILESSCDNIQGFIEEFLQIFSSLLQEKRFLRDYDALFPVAE
  DISLLQQASSVLDETRTAYILQAVESAWEGVDRRKATDAKDPSVIEEPNGEPNGVTVTAEAVSQASSHPENSEEE
  ECMGAAAAVGPAMCGVELDSLISQVKDLLPDLGEGFILACLEYYHYDPEQVINNILEERLAPTLSQLDRNLDREM
  KPDPTPLLTSRHNVFQNDEFDVFSRDSVDLSRVHKGKSTRKEENTRSLLNDKRAVAAQRQRYEQYSVVVEEVPLQ
  PGESLPYHSVYYEDEYDDTYDGNQVGANDADSDDELISRRPFTIPQVLRTKVPREGQEEDDDDEEDDADEEAPKP
  DHFVQDPAVLREKAEARRMAFLAKKGYRHDSSTAVAGSPRGHGQSRETTQERRKKEANKATRANHNRRTMADRKR
  SKGMIPS

• Structural information:
  • Protein Domains: (467..51-)
    (/note="CUE-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00468"-)
  • Interpro: IPR041800  IPR003892  IPR009060  
  • Prosite: PS51140
  • CDD: cd14364
  • PDB: 2DI0
  • PDBsum: 2DI0
  • STRING: ENSP00000380877
• Other Databases: GeneCards:  ASCC2  Malacards:  ASCC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0043130	ubiquitin binding	IBA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IBA	biological process
GO:0006355	regulation of transcription, DNA-templated	IDA	biological process
GO:0099053	activating signal cointegrator 1 complex	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0006281	DNA repair	IEA	biological process
GO:0006974	cellular response to DNA damage stimulus	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0006307	DNA dealkylation involved in DNA repair	TAS	biological process
GO:0006307	DNA dealkylation involved in DNA repair	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

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
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray