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] See more...

Aliases for FAAP24 Gene

Aliases for FAAP24 Gene

  • FA Core Complex Associated Protein 24 2 3 5
  • Fanconi Anemia Core Complex Associated Protein 24 2 3
  • Fanconi Anemia Core Complex-Associated Protein 24 3 4
  • Fanconi Anemia-Associated Protein Of 24 KDa 3 4
  • C19orf40 3 4
  • Fanconi Anemia-Associated Protein, 24kDa 2
  • Chromosome 19 Open Reading Frame 40 2
  • FLJ46828 2
  • MGC32020 2
  • FAAP24 5

External Ids for FAAP24 Gene

Previous HGNC Symbols for FAAP24 Gene

  • C19orf40

Previous GeneCards Identifiers for FAAP24 Gene

  • GC19P032973
  • GC19P032974
  • GC19P033077

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 (FA Core Complex Associated Protein 24) is a Protein Coding gene. Diseases associated with FAAP24 include Fanconi Anemia, Complementation Group N and Fanconi Anemia, Complementation Group I. Among its related pathways are Fanconi anemia pathway and DNA Double-Strand Break Repair.

UniProtKB/Swiss-Prot Summary 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.

Additional gene information for FAAP24 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FAAP24 Gene

Genomics for FAAP24 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FAAP24 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FAAP24 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FAAP24

Genomic Locations for FAAP24 Gene

Genomic Locations for FAAP24 Gene
chr19:32,972,209-32,978,229
(GRCh38/hg38)
Size:
6,021 bases
Orientation:
Plus strand
chr19:33,463,115-33,469,128
(GRCh37/hg19)
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

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

Gene Families for FAAP24 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for FAAP24 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FAAP24 Gene

GenScript: Design optimal peptide antigens:
  • Fanconi anemia-associated protein of 24 kDa (FAP24_HUMAN)

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

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 From GWAS Catalog for FAAP24 Gene

Gene Ontology (GO) - Molecular Function for FAAP24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IBA,IDA 20347429
GO:0005515 protein binding IPI 17289582
genes like me logo Genes that share ontologies with FAAP24: view
genes like me logo Genes that share phenotypes with FAAP24: view

Animal Model Products

CRISPR Products

miRNA for FAAP24 Gene

miRTarBase miRNAs that target FAAP24

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAAP24

No data available for Enzyme Numbers (IUBMB) , 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

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FAAP24 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FAAP24 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0043231 intracellular membrane-bounded organelle IDA --
GO:0043240 Fanconi anaemia nuclear complex IBA,IDA 20347428
genes like me logo Genes that share ontologies with FAAP24: view

Pathways & Interactions for FAAP24 Gene

PathCards logo

SuperPathways 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

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0036297 interstrand cross-link repair TAS --
genes like me logo Genes that share ontologies with FAAP24: view

No data available for SIGNOR curated interactions for FAAP24 Gene

Drugs & Compounds for FAAP24 Gene

No Compound Related Data Available

Transcripts for FAAP24 Gene

mRNA/cDNA for FAAP24 Gene

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FAAP24

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

No ASD Table

Relevant External Links for FAAP24 Gene

GeneLoc Exon Structure for
FAAP24

Expression for FAAP24 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FAAP24

Evidence on tissue expression from TISSUES for FAAP24 Gene

  • Skin(4.3)
  • Kidney(2.1)
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 , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
Chimpanzee
(Pan troglodytes)
Mammalia C19H19orf40 30
  • 98.91 (n)
C19orf40 31
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia C1H19orf40 30
  • 84.74 (n)
C19orf40 31
  • 67 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia C18H19orf40 30
  • 84.74 (n)
FAAP24 31
  • 83 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia C230052I12Rik 30 31
  • 81.78 (n)
OneToOne
Faap24 17
Rat
(Rattus norvegicus)
Mammalia RGD1564719 30
  • 81.62 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 78 (a)
OneToMany
-- 31
  • 69 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia C19orf40 31
  • 69 (a)
OneToOne
Chicken
(Gallus gallus)
Aves C11H19ORF40 30
  • 66.83 (n)
Lizard
(Anolis carolinensis)
Reptilia C19orf40 31
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia c19orf40 30
  • 62.8 (n)
Zebrafish
(Danio rerio)
Actinopterygii zgc:162267 30
  • 61.31 (n)
C25H19orf40 31
  • 55 (a)
OneToOne
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4444 30
Species where no ortholog for FAAP24 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for FAAP24: view image

Paralogs for FAAP24 Gene

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

  • FAP24_HUMAN

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FAAP24 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
714784 Benign: not provided 32,974,100(+) G/A MISSENSE_VARIANT,FIVE_PRIME_UTR_VARIANT
714785 Benign: not provided 32,976,631(+) C/T SYNONYMOUS_VARIANT
784831 Benign: not provided 32,974,193(+) C/T MISSENSE_VARIANT
791355 Benign: not provided 32,973,225(+) G/C MISSENSE_VARIANT,INTRON_VARIANT
rs2304103 - p.Ser158Leu

Additional dbSNP identifiers (rs#s) for FAAP24 Gene

Structural Variations from Database of Genomic Variants (DGV) for FAAP24 Gene

Variant ID Type Subtype PubMed ID
nsv1060014 CNV gain 25217958
nsv820055 CNV gain 19587683
nsv833807 CNV loss 17160897

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)

Additional Variant Information for FAAP24 Gene

Human Gene Mutation Database (HGMD)
FAAP24
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FAAP24

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FAAP24 Gene

Disorders for FAAP24 Gene

MalaCards: The human disease database

(12) MalaCards diseases for FAAP24 Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
genes like me logo Genes that share disorders with FAAP24: view

No data available for 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 SC (Molecular cell 2007) 2 3 4
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  3. H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination to sister chromatids. (PMID: 30804502) Nakamura K … Groth A (Nature cell biology 2019) 3
  4. DNA Repair Network Analysis Reveals Shieldin as a Key Regulator of NHEJ and PARP Inhibitor Sensitivity. (PMID: 29656893) Gupta R … Choudhary C (Cell 2018) 3
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3

Products for FAAP24 Gene

Sources for FAAP24 Gene