• Gene id: 55602

Gene Summary

• Gene Symbol: CDKN2AIP   Gene   UCSC   Ensembl
• Aliases: CARF
• Gene name: CDKN2A interacting protein
• Alternate names: CDKN2A-interacting protein, collaborates/cooperates with ARF (alternate reading frame) protein, collaborator of ARF,
• Gene location: 4q35.1 (183444635: 183449063)     Exons: 3     NC_000004.12
• Gene summary(Entrez): The protein encoded by this gene regulates the DNA damage response through several different signaling pathways. One such pathway is the p53-HDM2-p21(WAF1) pathway, which is critical to the DNA damage response. Two transcript variants encoding different i
• OMIM: 610778

Protein Summary

• Protein general information: Q9NXV6  
  • Name: CDKN2A interacting protein (Collaborator of ARF)
  • Length: 580  
  • Mass: 61125
  • Tissue specificity: Ubiquitously expressed. {ECO
• Sequence:

  MAQEVSEYLSQNPRVAAWVEALRCDGETDKHWRHRRDFLLRNAGDLAPAGGAASASTDEAADAESGTRNRQLQQL
  ISFSMAWANHVFLGCRYPQKVMDKILSMAEGIKVTDAPTYTTRDELVAKVKKRGISSSNEGVEEPSKKRVIEGKN
  SSAVEQDHAKTSAKTERASAQQENSSTCIGSAIKSESGNSARSSGISSQNSSTSDGDRSVSSQSSSSVSSQVTTA
  GSGKASEAEAPDKHGSASFVSLLKSSVNSHMTQSTDSRQQSGSPKKSALEGSSASASQSSSEIEVPLLGSSGSSE
  VELPLLSSKPSSETASSGLTSKTSSEASVSSSVAKNSSSSGTSLLTPKSSSSTNTSLLTSKSTSQVAASLLASKS
  SSQTSGSLVSKSTSLASVSQLASKSSSQTSTSQLPSKSTSQSSESSVKFSCKLTNEDVKQKQPFFNRLYKTVAWK
  LVAVGGFSPNVNHGELLNAAIEALKATLDVFFVPLKELADLPQNKSSQESIVCELRCKSVYLGTGCGKSKENAKA
  VASREALKLFLKKKVVVKICKRKYRGSEIEDLVLLDEESRPVNLPPALKHPQELL

• Structural information:
  • Protein Domains: (19..13-)
    (/note="XRN2-binding-(XTBD))
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01171-)
    (462..53-)
    (/note="DRBM-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00266"-)
  • Interpro: IPR014720  IPR021859  
  • Prosite: PS50137 PS51827
  • DIP: 24170
  • STRING: ENSP00000427108
• Other Databases: GeneCards:  CDKN2AIP  Malacards:  CDKN2AIP

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005730	nucleolus	IBA	cellular component
GO:0005654	nucleoplasm	IBA	cellular component
GO:0006974	cellular response to DNA damage stimulus	IDA	biological process
GO:0030307	positive regulation of cell growth	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003723	RNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0002039	p53 binding	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0001652	granular component	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005730	nucleolus	IDA	cellular component
GO:0030308	negative regulation of cell growth	IMP	biological process
GO:0030308	negative regulation of cell growth	IMP	biological process
GO:0009967	positive regulation of signal transduction	IMP	biological process
GO:0031647	regulation of protein stability	IMP	biological process
GO:0005654	nucleoplasm	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881