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Aliases for FAAP24 Gene

Aliases for FAAP24 Gene

  • Fanconi Anemia Core Complex Associated Protein 24 2 3 5
  • Fanconi Anemia-Associated Protein Of 24 KDa 3 4
  • C19orf40 3 4
  • Chromosome 19 Open Reading Frame 40 2
  • Fanconi Anemia-Associated Protein 2
  • 24kDa 2

External Ids for FAAP24 Gene

Previous HGNC Symbols for FAAP24 Gene

  • C19orf40

Summaries for FAAP24 Gene

Entrez Gene Summary for FAAP24 Gene

  • 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]

GeneCards Summary for FAAP24 Gene

FAAP24 (Fanconi Anemia Core Complex Associated Protein 24) is a Protein Coding gene. Among its related pathways are Fanconi anemia pathway and DNA Double-Strand Break Repair.

UniProtKB/Swiss-Prot for FAAP24 Gene

  • Plays a role in DNA repair through recruitment of the FA core complex to damaged DNA. Regulates FANCD2 monoubiquitination upon DNA damage. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed. Targets FANCM/FAAP24 complex to the DNA, preferentially to single strand DNA.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FAAP24 Gene

Genomics for FAAP24 Gene

Regulatory Elements for FAAP24 Gene

Enhancers for FAAP24 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around FAAP24 on UCSC Golden Path with GeneCards custom track

Promoters for FAAP24 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around FAAP24 on UCSC Golden Path with GeneCards custom track

Genomic Location for FAAP24 Gene

Chromosome:
19
Start:
32,972,209 bp from pter
End:
32,978,222 bp from pter
Size:
6,014 bases
Orientation:
Plus strand

Genomic View for FAAP24 Gene

Genes around FAAP24 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FAAP24 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FAAP24 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FAAP24 Gene

Proteins for FAAP24 Gene

  • Protein details for FAAP24 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BTP7-FAP24_HUMAN
    Recommended name:
    Fanconi anemia core complex-associated protein 24
    Protein Accession:
    Q9BTP7
    Secondary Accessions:
    • B3KY46
    • Q8WUJ7
    • Q96FX6

    Protein attributes for FAAP24 Gene

    Size:
    215 amino acids
    Molecular mass:
    23897 Da
    Quaternary structure:
    • Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9, FANCM and FAAP24. Interacts with FANCM.

    Three dimensional structures from OCA and Proteopedia for FAAP24 Gene

neXtProt entry for FAAP24 Gene

Proteomics data for FAAP24 Gene at MOPED

Post-translational modifications for FAAP24 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for FAAP24 Gene

No data available for DME Specific Peptides for FAAP24 Gene

Domains & Families for FAAP24 Gene

Protein Domains for FAAP24 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAAP24 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BTP7

UniProtKB/Swiss-Prot:

FAP24_HUMAN :
  • The C-terminal region is distantly related to RuvA domain 2, a DNA-binding domain.
Domain:
  • The C-terminal region is distantly related to RuvA domain 2, a DNA-binding domain.
genes like me logo Genes that share domains with FAAP24: view

No data available for Gene Families for FAAP24 Gene

Function for FAAP24 Gene

Molecular function for FAAP24 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in DNA repair through recruitment of the FA core complex to damaged DNA. Regulates FANCD2 monoubiquitination upon DNA damage. Induces chromosomal instability as well as hypersensitivity to DNA cross-linking agents, when repressed. Targets FANCM/FAAP24 complex to the DNA, preferentially to single strand DNA.

Phenotypes for FAAP24 Gene

genes like me logo Genes that share phenotypes with FAAP24: view

Animal Model Products

miRNA for FAAP24 Gene

miRTarBase miRNAs that target FAAP24

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for FAAP24 Gene

Localization for FAAP24 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FAAP24 Gene

No data available for Subcellular locations from COMPARTMENTS and Gene Ontology (GO) - Cellular Components for FAAP24 Gene

Pathways & Interactions for FAAP24 Gene

genes like me logo Genes that share pathways with FAAP24: view

Pathways by source for FAAP24 Gene

2 Reactome pathways for FAAP24 Gene
1 KEGG pathway for FAAP24 Gene

Gene Ontology (GO) - Biological Process for FAAP24 Gene

None

No data available for SIGNOR curated interactions for FAAP24 Gene

Drugs & Compounds for FAAP24 Gene

No Compound Related Data Available

Transcripts for FAAP24 Gene

Alternative Splicing Database (ASD) splice patterns (SP) for FAAP24 Gene

No ASD Table

Relevant External Links for FAAP24 Gene

GeneLoc Exon Structure for
FAAP24
ECgene alternative splicing isoforms for
FAAP24

Expression for FAAP24 Gene

No Expression Related Data Available

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for FAAP24 Gene

Orthologs for FAAP24 Gene

This gene was present in the common ancestor of chordates.

Orthologs for FAAP24 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia C18H19orf40 35
  • 84.74 (n)
  • 85.98 (a)
FAAP24 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1H19orf40 35
  • 84.74 (n)
  • 82.71 (a)
C19orf40 36
  • 67 (a)
OneToOne
mouse
(Mus musculus)
Mammalia C230052I12Rik 35
  • 81.78 (n)
  • 81.78 (a)
Faap24 16
C230052I12Rik 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia C19H19orf40 35
  • 98.91 (n)
  • 98.14 (a)
C19orf40 36
  • 98 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia RGD1564719 35
  • 81.62 (n)
  • 80.84 (a)
oppossum
(Monodelphis domestica)
Mammalia C19orf40 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 69 (a)
OneToMany
-- 36
  • 78 (a)
OneToMany
chicken
(Gallus gallus)
Aves C11H19ORF40 35
  • 66.83 (n)
  • 62.8 (a)
lizard
(Anolis carolinensis)
Reptilia C19orf40 36
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c19orf40 35
  • 62.8 (n)
  • 58.94 (a)
zebrafish
(Danio rerio)
Actinopterygii zgc:162267 35
  • 61.31 (n)
  • 61.66 (a)
C25H19orf40 36
  • 55 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4444 35
Species with no ortholog for FAAP24:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FAAP24 Gene

ENSEMBL:
Gene Tree for FAAP24 (if available)
TreeFam:
Gene Tree for FAAP24 (if available)

Paralogs for FAAP24 Gene

(1) SIMAP similar genes for FAAP24 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for FAAP24 Gene

genes like me logo Genes that share paralogs with FAAP24: view

No data available for Paralogs for FAAP24 Gene

Variants for FAAP24 Gene

Sequence variations from dbSNP and Humsavar for FAAP24 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs2304103 - 32,976,507(+) GCCTT(C/T)GCTCC reference, missense
rs3816032 - 32,976,609(+) TTCCA(C/T)TGGGG reference, missense
rs36017455 - 32,974,193(-) GGCAG(A/G)ATGCT reference, missense
rs7258185 -- 32,976,670(+) TTCAC(A/G)CAGCC reference, synonymous-codon
rs7258303 -- 32,976,026(+) GTCTG(C/T)CTTAG intron-variant

Variation tolerance for FAAP24 Gene

Residual Variation Intolerance Score: 51.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.52; 71.96% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FAAP24 Gene

HapMap Linkage Disequilibrium report
FAAP24

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for FAAP24 Gene

Disorders for FAAP24 Gene

Relevant External Links for FAAP24

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAAP24

No disorders were found for FAAP24 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for FAAP24 Gene

Publications for FAAP24 Gene

  1. Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM. (PMID: 17289582) Ciccia A. … West S.C. (Mol. Cell 2007) 2 3 4 67
  2. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X. … Vidal M. (Cell 2016) 3
  3. FANCM and FAAP24 maintain genome stability via cooperative as well as unique functions. (PMID: 23333308) Wang Y. … Li L. (Mol. Cell 2013) 3
  4. Inhibition of UBE2D3 expression attenuates radiosensitivity of MCF-7 human breast cancer cells by increasing hTERT expression and activity. (PMID: 23741361) Wang W. … Zhou Y. (PLoS ONE 2013) 3
  5. Architecture and DNA recognition elements of the Fanconi anemia FANCM-FAAP24 complex. (PMID: 23932590) Coulthard R. … McDonald N.Q. (Structure 2013) 3

Products for FAAP24 Gene

Sources for FAAP24 Gene

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