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Aliases for C19orf40 Gene

Aliases for C19orf40 Gene

  • Chromosome 19 Open Reading Frame 40 2 3
  • FAAP24 3 4 6
  • Fanconi Anemia-Associated Protein Of 24 KDa 3
  • Fanconi Anemia-Associated Protein 2
  • 24kDa 2

External Ids for C19orf40 Gene

Previous GeneCards Identifiers for C19orf40 Gene

  • GC19P038156
  • GC19P033463
  • GC19P029965

Summaries for C19orf40 Gene

Entrez Gene Summary for C19orf40 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 C19orf40 Gene

C19orf40 (Chromosome 19 Open Reading Frame 40) is a Protein Coding gene. Diseases associated with C19orf40 include aplastic anemia. Among its related pathways are DNA Repair and Fanconi anemia pathway (KEGG). GO annotations related to this gene include chromatin binding.

UniProtKB/Swiss-Prot for C19orf40 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 C19orf40 Gene

Genomics for C19orf40 Gene

Regulatory Elements for C19orf40 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for C19orf40 Gene

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

Genomic View for C19orf40 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for C19orf40 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for C19orf40 Gene

Proteins for C19orf40 Gene

  • Protein details for C19orf40 Gene (UniProtKB/Swiss-Prot)

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

    Protein attributes for C19orf40 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 C19orf40 Gene

neXtProt entry for C19orf40 Gene

Proteomics data for C19orf40 Gene at MOPED

Post-translational modifications for C19orf40 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for C19orf40 Gene

No data available for DME Specific Peptides for C19orf40 Gene

Domains for C19orf40 Gene

Protein Domains for C19orf40 Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

Q9BTP7

UniProtKB/Swiss-Prot:

FAP24_HUMAN :
  • Q9BTP7
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 C19orf40: view

No data available for Gene Families and Suggested Antigen Peptide Sequences for C19orf40 Gene

Function for C19orf40 Gene

Molecular function for C19orf40 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 C19orf40 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 C19orf40: view

Phenotypes for C19orf40 Gene

GenomeRNAi human phenotypes for C19orf40:
genes like me logo Genes that share phenotypes with C19orf40: view

Animal Model Products

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C19orf40

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for C19orf40 Gene

Localization for C19orf40 Gene

Subcellular locations from UniProtKB/Swiss-Prot for C19orf40 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for C19orf40 Gene COMPARTMENTS Subcellular localization image for C19orf40 gene
Compartment Confidence
nucleus 5
cytosol 3

Gene Ontology (GO) - Cellular Components for C19orf40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus --
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 C19orf40: view

Pathways for C19orf40 Gene

genes like me logo Genes that share pathways with C19orf40: view

Pathways by source for C19orf40 Gene

2 Reactome pathways for C19orf40 Gene
1 KEGG pathway for C19orf40 Gene

Gene Ontology (GO) - Biological Process for C19orf40 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair TAS --
genes like me logo Genes that share ontologies with C19orf40: view

Transcripts for C19orf40 Gene

Unigene Clusters for C19orf40 Gene

Chromosome 19 open reading frame 40:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for C19orf40

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for C19orf40 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d
SP1: -
SP2:
SP3: -
SP4: - - -

Relevant External Links for C19orf40 Gene

GeneLoc Exon Structure for
C19orf40
ECgene alternative splicing isoforms for
C19orf40

Expression for C19orf40 Gene

mRNA expression in normal human tissues for C19orf40 Gene

mRNA differential expression in normal tissues according to GTEx for C19orf40 Gene

This gene is overexpressed in Testis (4.4).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for C19orf40 Gene

SOURCE GeneReport for Unigene cluster for C19orf40 Gene Hs.579899

genes like me logo Genes that share expressions with C19orf40: view

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for C19orf40 Gene

Orthologs for C19orf40 Gene

This gene was present in the common ancestor of chordates.

Orthologs for C19orf40 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C19H19orf40 35
  • 98.91 (n)
  • 98.14 (a)
C19orf40 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia C18H19orf40 35
  • 84.74 (n)
  • 85.98 (a)
FAAP24 36
  • 83 (a)
OneToOne
dog
(Canis familiaris)
Mammalia C19orf40 36
  • 67 (a)
OneToOne
C1H19orf40 35
  • 84.74 (n)
  • 82.71 (a)
mouse
(Mus musculus)
Mammalia C230052I12Rik 35
  • 81.78 (n)
  • 81.78 (a)
C230052I12Rik 16
C230052I12Rik 36
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia C19orf40 36
  • 69 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 69 (a)
OneToMany
-- 36
  • 78 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia RGD1564719 35
  • 81.62 (n)
  • 80.84 (a)
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)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4444 35
zebrafish
(Danio rerio)
Actinopterygii C25H19orf40 36
  • 55 (a)
OneToOne
zgc:162267 35
  • 61.31 (n)
  • 61.66 (a)
Species with no ortholog for C19orf40:
  • 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 C19orf40 Gene

ENSEMBL:
Gene Tree for C19orf40 (if available)
TreeFam:
Gene Tree for C19orf40 (if available)

Paralogs for C19orf40 Gene

Selected SIMAP similar genes for C19orf40 Gene using alignment to 1 proteins:

Pseudogenes.org Pseudogenes for C19orf40 Gene

genes like me logo Genes that share paralogs with C19orf40: view

No data available for Paralogs for C19orf40 Gene

Variants for C19orf40 Gene

Sequence variations from dbSNP and Humsavar for C19orf40 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs2304101 -- 32,976,181(+) AATTC(A/C)TCTGT intron-variant
rs2304102 -- 32,976,451(+) AAAGA(A/G)CCCAG synonymous-codon, reference
rs2304103 -- 32,976,507(+) GCCTT(C/T)GCTCC reference, missense
rs3816032 -- 32,976,609(+) TTCCA(C/T)TGGGG missense, reference
rs4805024 -- 32,974,576(+) gccag(C/G)agttc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for C19orf40 Gene

Variant ID Type Subtype PubMed ID
nsv833807 CNV Loss 17160897
nsv820055 CNV Gain 19587683

Relevant External Links for C19orf40 Gene

HapMap Linkage Disequilibrium report
C19orf40

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for C19orf40 Gene

Disorders for C19orf40 Gene

MalaCards: The human disease database

MalaCards: The human disease database. (1) Diseases for C19orf40 Gene including...

Search for C19orf40 Gene in MalaCards »

(1) University of Copenhagen DISEASES for C19orf40 Gene

genes like me logo Genes that share disorders with C19orf40: view

No data available for UniProtKB/Swiss-Prot for C19orf40 Gene

Publications for C19orf40 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
  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
  3. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PMID: 16344560) Kimura K. … Sugano S. (Genome Res. 2006) 3
  4. hORFeome v3.1: a resource of human open reading frames representing over 10,000 human genes. (PMID: 17207965) Lamesch P. … Vidal M. (Genomics 2007) 3
  5. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PMID: 12477932) Strausberg R.L. … Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002) 3

Products for C19orf40 Gene

  • antibodies-online proteins for C19orf40
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Sources for C19orf40 Gene

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