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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
  • Fanconi Anemia Core Complex-Associated Protein 24 3
  • Fanconi Anemia-Associated Protein, 24kDa 2
  • Chromosome 19 Open Reading Frame 40 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. Diseases associated with FAAP24 include Congenital Hypoplastic Anemia and Fanconi Anemia, Complementation Group A. 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 CIViC summary , 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 Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19G033039 1.9 FANTOM5 Ensembl ENCODE dbSUPER 20.5 +69.7 69665 6.3 HNRNPUL1 FOXA2 MLX ZFP64 ARID4B SIN3A DMAP1 YY1 FOS SP3 GPATCH1 PDCD5 RHPN2 FAAP24 CHST8 CEP89 ANKRD27 NUDT19 ENSG00000267611 GC19M033010
GH19G032691 1.2 ENCODE 24.1 -280.0 -279990 3.0 HDGF PKNOX1 CREB3L1 ARNT WRNIP1 ARID4B SIN3A FEZF1 ZNF2 YY1 GPATCH1 NUDT19 ENSG00000267475 FAAP24 SLC7A9 CHST8 PDCD5 TDRD12 PIR48211
GH19G033289 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.1 +320.1 320131 6.5 PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF302 GPATCH1 LSM14A KIAA0355 PDCD5 CEBPG FAAP24 CHST8 CEBPA-AS1 PEPD CEBPA
GH19G033277 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13.1 +307.3 307259 3.1 HDGF PKNOX1 MLX ARID4B SIN3A ZNF2 YY1 DEK ZNF263 MCM3 GPATCH1 LSM14A KIAA0355 FAAP24 CEBPG CEBPA PIR37620 SLC7A10
GH19G033819 1.9 FANTOM5 Ensembl ENCODE dbSUPER 13 +848.4 848434 2.8 HDGF ZFP64 ARID4B SIN3A FEZF1 YY1 ZNF302 ZNF416 FOS KLF13 GPATCH1 LSM14A KIAA0355 WTIP KCTD15 ENSG00000267219 FAAP24 ENSG00000271049 CHST8 PIR48101
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000108745 -309 1801 PKNOX1 CREB3L1 ZFP64 ARID4B SIN3A DMAP1 FEZF1 ZNF2 YY1 ZNF416

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

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.

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 IDA 20347429
GO:0005515 protein binding IPI 20347429
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

miRNA for FAAP24 Gene

miRTarBase miRNAs that target FAAP24

Inhibitory RNA Products

Clone Products

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

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 IDA 20347428
genes like me logo Genes that share ontologies with FAAP24: view

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

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

Inhibitory RNA Products

Clone Products

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

NURSA nuclear receptor signaling pathways regulating expression of FAAP24 Gene:

FAAP24

Evidence on tissue expression from TISSUES for FAAP24 Gene

  • Skin(4.1)
No Expression Related Data Available

Primer Products

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 34
  • 98.91 (n)
C19orf40 35
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C1H19orf40 34
  • 84.74 (n)
C19orf40 35
  • 67 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C18H19orf40 34
  • 84.74 (n)
FAAP24 35
  • 83 (a)
OneToOne
mouse
(Mus musculus)
Mammalia C230052I12Rik 35 34
  • 81.78 (n)
OneToOne
Faap24 16
rat
(Rattus norvegicus)
Mammalia RGD1564719 34
  • 81.62 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 78 (a)
OneToMany
-- 35
  • 69 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia C19orf40 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves C11H19ORF40 34
  • 66.83 (n)
lizard
(Anolis carolinensis)
Reptilia C19orf40 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia c19orf40 34
  • 62.8 (n)
zebrafish
(Danio rerio)
Actinopterygii zgc:162267 34
  • 61.31 (n)
C25H19orf40 35
  • 55 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4444 34
Species where no ortholog for FAAP24 was found in the sources mined by GeneCards:
  • 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
rs1000548613 -- 32,972,469(+) ACGGG(A/G)TCTCG intron-variant, upstream-variant-2KB
rs1000775887 -- 32,977,681(+) TTTGG(A/G)AGGCC downstream-variant-500B
rs1002222581 -- 32,973,670(+) GCCAA(C/T)ATGGT intron-variant, upstream-variant-2KB
rs1002324061 -- 32,972,144(+) TCTTA(C/T)TGGTC upstream-variant-2KB
rs1002820253 -- 32,975,837(+) GTGTG(-/TTGT)TTGTT intron-variant

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)

Relevant External Links 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

(2) MalaCards diseases for FAAP24 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
congenital hypoplastic anemia
  • congenital aplastic anemia
fanconi anemia, complementation group a
  • fanconi's anemia
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for FAAP24

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FAAP24
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 S.C. (Mol. Cell 2007) 2 3 4 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing. (PMID: 26871637) Yang X. … Vidal M. (Cell 2016) 3 64
  4. FANCM and FAAP24 maintain genome stability via cooperative as well as unique functions. (PMID: 23333308) Wang Y. … Li L. (Mol. Cell 2013) 3 64
  5. Structural insights into the functions of the FANCM-FAAP24 complex in DNA repair. (PMID: 24003026) Yang H. … Ding J. (Nucleic Acids Res. 2013) 3 64

Products for FAAP24 Gene

Sources for FAAP24 Gene

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