• Gene id: 91442

Gene Summary

• Gene Symbol: FAAP24   Gene   UCSC   Ensembl
• Aliases: C19orf40
• Gene name: FA core complex associated protein 24
• Alternate names: Fanconi anemia core complex-associated protein 24, Fanconi anemia core complex associated protein 24, Fanconi anemia-associated protein of 24 kDa,
• Gene location: 19q13.11 (32972211: 32978228)     Exons: 5     NC_000019.10
• Gene summary(Entrez): FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]
• OMIM: 610884

Protein Summary

• Protein general information: Q9BTP7  
  • Name: Fanconi anemia core complex associated protein 24 (Fanconi anemia associated protein of 24 kDa)
  • Length: 215  
  • Mass: 23897
• Sequence:

  MEKNPPDDTGPVHVPLGHIVANEKWRGSQLAQEMQGKIKLIFEDGLTPDFYLSNRCCILYVTEADLVAGNGYRKR
  LVRVRNSNNLKGIVVVEKTRMSEQYFPALQKFTVLDLGMVLLPVASQMEASCLVIQLVQEQTKEPSKNPLLGKKR
  ALLLSEPSLLRTVQQIPGVGKVKAPLLLQKFPSIQQLSNASIGELEQVVGQAVAQQIHAFFTQPR

• Structural information:
  • Interpro: IPR041663  IPR026985  IPR040646  IPR010994  
  • PDB: 2LYH 2M9M 2M9N 4BXO 4M6W
  • PDBsum: 2LYH 2M9M 2M9N 4BXO 4M6W
  • DIP: 50466
  • STRING: ENSP00000466121
• Other Databases: GeneCards:  FAAP24  Malacards:  FAAP24

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0003682	chromatin binding	IBA	molecular function
GO:0043240	Fanconi anaemia nuclear complex	IBA	cellular component
GO:0003682	chromatin binding	IDA	molecular function
GO:0043240	Fanconi anaemia nuclear complex	IDA	cellular component
GO:0043240	Fanconi anaemia nuclear complex	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0036297	interstrand cross-link repair	IEA	biological process
GO:0043240	Fanconi anaemia nuclear complex	IEA	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:0003677	DNA binding	IEA	molecular function
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: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:0036297	interstrand cross-link repair	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa03460	Fanconi anemia pathway

Diseases

Associated diseases	References
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)