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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

C19orf40 Gene

protein-coding   GIFtS: 50
GCID: GC19P033463

Chromosome 19 Open Reading Frame 40

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Chromosome 19 Open Reading Frame 401 2
FAAP242 5
24kDa1
Fanconi Anemia-Associated Protein1
Fanconi Anemia-Associated Protein Of 24 KDa2
Fanconi Anemia-Associated Protein, 24 KDa2

External Ids:    HGNC: 284671   Entrez Gene: 914422   Ensembl: ENSG000001319447   OMIM: 6108845   UniProtKB: Q9BTP73   

Export aliases for C19orf40 gene to outside databases

Previous GC identifers: GC19P038156 GC19P029965


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 anemia, and fanconi's anemia. GO annotations related to this gene include chromatin binding and DNA binding.

UniProtKB/Swiss-Prot: FAP24_HUMAN, Q9BTP7
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




(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the C19orf40 gene promoter:
         ISGF-3   FOXD1   YY1   CREB   CBF-B   CBF-A   HSF2   deltaCREB   Ik-1   CBF(2)   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for C19orf40

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat C19orf40


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19q13.11   Ensembl cytogenetic band:  19q13.11   HGNC cytogenetic band: 19q13.11

C19orf40 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
C19orf40 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P033463:  view genomic region     (about GC identifiers)

Start:
33,463,115 bp from pter      End:
33,469,128 bp from pter
Size:
6,014 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: FAP24_HUMAN, Q9BTP7 (See protein sequence)
Recommended Name: Fanconi anemia-associated protein of 24 kDa  
Size: 215 amino acids; 23897 Da
Subunit: Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9,
FANCM and FAAP24. Interacts with FANCM
Subcellular location: Nucleus
1 PDB 3D structure from and Proteopedia for C19orf40:
2LYH (3D)    
Secondary accessions: B3KY46 Q8WUJ7 Q96FX6

Explore the universe of human proteins at neXtProt for C19orf40: NX_Q9BTP7

Explore proteomics data for C19orf40 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BTP7

  • C19orf40 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    C19orf40 Protein Expression
    REFSEQ proteins: NP_689479.1  
    ENSEMBL proteins: 
     ENSP00000254262   ENSP00000465569   ENSP00000466121   ENSP00000465728   ENSP00000468475  
    Reactome Protein details: Q9BTP7
    Human Recombinant Protein Products for C19orf40: 
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    Novus Biologicals C19orf40 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0043231intracellular membrane-bounded organelle IDA--
    GO:0043240Fanconi anaemia nuclear complex IDA--

    C19orf40 for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    2 InterPro protein domains:
     IPR026985 FAAP24
     IPR010994 RuvA_2-like

    Graphical View of Domain Structure for InterPro Entry Q9BTP7

    ProtoNet protein and cluster: Q9BTP7

    UniProtKB/Swiss-Prot: FAP24_HUMAN, Q9BTP7
    Domain: The C-terminal region is distantly related to RuvA domain 2, a DNA-binding domain


    C19orf40 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: FAP24_HUMAN, Q9BTP7
    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): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding IDA--
    GO:0005515protein binding IPI--
         
    C19orf40 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for C19orf40:
     Increased S DNA content 

    Animal Models:
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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for C19orf40 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Fanconi anemia pathway
    Fanconi anemia pathway

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2        Reactome Pathways for C19orf40
        DNA Repair
    Fanconi Anemia pathway


    1         Kegg Pathway  (Kegg details for C19orf40):
        Fanconi anemia pathway


    C19orf40 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for C19orf40

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/28 Interacting proteins for C19orf40 (Q9BTP73 ENSP000002542624) via UniProtKB, MINT, STRING, and/or I2D (see all 28)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FANCAO153603, ENSP000003739524I2D: score=1 STRING: ENSP00000373952
    FANCBQ8NB913, ENSP000003268194I2D: score=1 STRING: ENSP00000326819
    FANCGO152873, ENSP000003679104I2D: score=1 STRING: ENSP00000367910
    FANCMQ8IYD83, ENSP000002674304I2D: score=2 STRING: ENSP00000267430
    ATRQ135353, ENSP000003437414I2D: score=1 STRING: ENSP00000343741
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006281DNA repair TAS--

    C19orf40 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for C19orf40 (FAP24)

    Search CenterWatch for drugs/clinical trials and news about C19orf40 / FAP24

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for C19orf40 gene: 
    NM_152266.3  

    Unigene Cluster for C19orf40:

    Chromosome 19 open reading frame 40
    Hs.579899  [show with all ESTs]
    Unigene Representative Sequence: AK128668
    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000254262(uc002nud.4) ENST00000589646 ENST00000588258 ENST00000590179
    ENST00000590281 ENST00000591791
    miRNA
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    Inhib. RNA
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    Additional mRNA sequence: 

    AK128668.1 AK309396.1 BC003535.1 BC010170.2 BC020247.1 

    5 DOTS entries:

    DT.91715187  DT.91715190  DT.40188534  DT.91715195  DT.101966949 

    24/54 AceView cDNA sequences (see all 54):

    BF793189 AK128668 BE790609 BM990829 BC020247 BE396092 BX376697 BM761534 
    BQ421060 BG708918 BE563642 BF036840 BG773468 BG167873 BU155119 BX382115 
    NM_152266 BC003535 BE793971 BF969106 BG164300 BC010170 BM452862 BI829252 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for C19orf40    About this scheme

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


    ECgene alternative splicing isoforms for C19orf40

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    C19orf40 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTGACAGGTG
    C19orf40 Expression
    About this image


    See C19orf40 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for C19orf40

    SOURCE GeneReport for Unigene cluster: Hs.579899
        SABiosciences Custom PCR Arrays for C19orf40
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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for C19orf40 gene from 4/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia C230052I12Rik1 , 5 RIKEN cDNA C230052I12 gene1, 5 81.78(n)1
    81.78(a)1
      7 (21.37 cM)5
    1018311  NM_178643.51  NP_848758.11 
     353922755 
    chicken
    (Gallus gallus)
    Aves C11H19orf401 chromosome 11 open reading frame, human C19orf40 66.83(n)
    63.73(a)
      415770  XM_414132.3  XP_414132.1 
    lizard
    (Anolis carolinensis)
    Reptilia C19ORF406
    Uncharacterized protein
    62(a)
    1 ↔ 1
    GL343483.1(65931-70795)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:1622671 zgc:162267 61.31(n)
    61.66(a)
      559470  NM_001089523.1  NP_001082992.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for C19orf40 gene
    1 SIMAP similar gene for C19orf40 using alignment to 1 protein entry:     K7EKQ4_HUMAN:
    FAAP24

    C19orf40 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for C19orf40
    PGOHUM00000239652


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/120 SNPs in C19orf40 are shown (see all 120)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1826501341,2
    C--33464914(+) CTTAAC/TCTGAA 1 -- int10--------
    rs1418251191,2
    C--33464916(+) TAACCC/TGAAAA 1 -- int10--------
    rs786282561,2
    C,F--33465006(+) AACCCA/G/TGATGA 3 Q R L mis12WA NA 4668
    rs1872944471,2
    C--33465032(+) CAGCCA/CTACAG 2 I L mis10--------
    rs1468298491,2
    C,F--33465034(+) GCCCTA/GCAGAA 2 L syn11Minor allele frequency- G:0.00NA 4552
    rs1489515791,2
    F--33465052(+) GTGCTG/AGACCT 2 /L syn11Minor allele frequency- A:0.00NA 4552
    rs1428239841,2
    C--33465097(+) GAAGCA/GTCCTG 2 A syn11Minor allele frequency- G:0.00NA 4552
    rs360174551,2
    C,F--33465099(-) GGCAGG/AATGCT 2 /S /F mis15Minor allele frequency- A:0.00NA EU 5956
    rs2002311391,2
    --33465106(+) TGCCTC/TGTCAT 2 L syn10--------
    rs1846714951,2
    --33465125(+) TGAGTA/GCCGAT 1 -- int10--------

    HapMap Linkage Disequilibrium report for C19orf40 (33463115 - 33469128 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for C19orf40:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833807CNV Loss17160897
    nsv820055CNV Gain19587683

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610884    OMIM disorders: --

    2 diseases for C19orf40:    About MalaCards
    anemia    fanconi's anemia

    1 disease from the University of Copenhagen DISEASES database for C19orf40:
    Aplastic anemia

    C19orf40 for disorders           About GeneDecksing


    Export disorders for C19orf40 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for C19orf40 gene, integrated from 9 sources (see all 19):
    (articles sorted by number of sources associating them with C19orf40)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of FAAP24, a Fanconi anemia core complex protein that interacts with FANCM. (PubMed id 17289582)1, 2, 3 Ciccia A....West S.C. (2007)
    2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    3. Inhibition of UBE2D3 expression attenuates radiosensit ivity of MCF-7 human breast cancer cells by increasing hTERT expression and acti vity. (PubMed id 23741361)1 Wang W....Zhou Y. (2013)
    4. FANCM and FAAP24 maintain genome stability via coopera tive as well as unique functions. (PubMed id 23333308)1 Wang Y....Li L. (2013)
    5. A ubiquitin-binding protein, FAAP20, links RNF8-mediat ed ubiquitination to the Fanconi anemia DNA repair network. (PubMed id 22705371)1 Yan Z....Wang W. (2012)
    6. Interactions of pathological hallmark proteins: tubul in polymerization promoting protein/p25, beta-amyloid, and alpha-synuclein. (PubMed id 21832049)1 OlA!h J....OvA!di J. (2011)
    7. The FANCM/FAAP24 complex is required for the DNA inte rstrand crosslink-induced checkpoint response. (PubMed id 20670894)1 Huang M....D'Andrea A.D. (2010)
    8. A histone-fold complex and FANCM form a conserved DNA -remodeling complex to maintain genome stability. (PubMed id 20347428)1 Yan Z....Wang W. (2010)
    9. MHF1-MHF2, a histone-fold-containing protein complex, participates in the Fanconi anemia pathway via FANCM. (PubMed id 20347429)1 Singh T.R....Meetei A.R. (2010)
    10. FANCM connects the genome instability disorders Bloom 's Syndrome and Fanconi Anemia. (PubMed id 20064461)1 Deans A.J. and West S.C. (2009)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 91442 HGNC: 28467 AceView: MGC32020 Ensembl:ENSG00000131944 euGenes: HUgn91442
    ECgene: C19orf40 Kegg: 91442 H-InvDB: C19orf40

    (According to HUGE)
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    About This Section
    NameDescription
    PharmGKB entry for C19orf40 Pharmacogenomics, SNPs, Pathways

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