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    Fance Fanconi anemia, complementation group E [ Mus musculus (house mouse) ]

    Gene ID: 72775, updated on 9-Dec-2024

    Summary

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    Official Symbol
    Fanceprovided by MGI
    Official Full Name
    Fanconi anemia, complementation group Eprovided by MGI
    Primary source
    MGI:MGI:1920025
    See related
    Ensembl:ENSMUSG00000007570 AllianceGenome:MGI:1920025
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    2810451D06Rik
    Summary
    This gene encodes the complementation group E subunit of the multimeric Fanconi anemia (FA) nuclear complex composed of proteins encoded by over ten Fanconi anemia complementation (FANC) group genes: FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The FA complex is necessary for protection against DNA damage. This gene product is required for the nuclear accumulation of FANCC and provides a critical bridge between the FA complex and FANCD2. Defects in the related human gene are a cause of Fanconi anemia, a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. Translation of this protein is initiated at a non-AUG (CUG) start codon, which is inferred from the related human gene and the notion that this protein is functionally indispensable. Multiple transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2009]
    Expression
    Ubiquitous expression in adrenal adult (RPKM 8.9), ovary adult (RPKM 7.6) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Fance in Genome Data Viewer
    Location:
    17 A3.3; 17 14.65 cM
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 17 NC_000083.7 (28532504..28545548)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 17 NC_000083.6 (28313530..28326574)

    Chromosome 17 - NC_000083.7Genomic Context describing neighboring genes Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:28344631-28344740 Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:28348857-28349040 Neighboring gene STARR-seq mESC enhancer starr_42195 Neighboring gene differentially expressed in FDCP 6 Neighboring gene STARR-positive B cell enhancer ABC_E7505 Neighboring gene STARR-positive B cell enhancer ABC_E10940 Neighboring gene STARR-seq mESC enhancer starr_42199 Neighboring gene STARR-positive B cell enhancer ABC_E4200 Neighboring gene peroxisome proliferator activator receptor delta Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:28393851-28394218 Neighboring gene RIKEN cDNA 1810013A23 gene Neighboring gene CapStarr-seq enhancer MGSCv37_chr17:28407203-28407312 Neighboring gene STARR-positive B cell enhancer ABC_E10941 Neighboring gene STARR-positive B cell enhancer ABC_E2476 Neighboring gene ribosomal protein L10A Neighboring gene TEA domain family member 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Pan-cancer analysis of the prognostic and immunological role of Fanconi anemia complementation group E. Zhou Z, et al. Front Genet, 2022. PMID 36685883, Free PMC Article
    2. Dearth and Delayed Maturation of Testicular Germ Cells in Fanconi Anemia E Mutant Male Mice. Fu C, et al. PLoS One, 2016. PMID 27486799, Free PMC Article
    3. Primary Ovarian Insufficiency Induced by Fanconi Anemia E Mutation in a Mouse Model. Fu C, et al. PLoS One, 2016. PMID 26939056, Free PMC Article
    4. FANCE: the link between Fanconi anaemia complex assembly and activity. Pace P, et al. EMBO J, 2002 Jul 1. PMID 12093742, Free PMC Article
    5. The reduction of oocytes and disruption of the meiotic prophase I in Fanconi anemia E-deficient mice. Yin H, et al. Reproduction, 2022 Sep 1. PMID 35671285

    See all (22) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Fance deficiency inhibits primordial germ cell proliferation associated with transcription-replication conflicts accumulate and DNA repair defects.
      Title: Fance deficiency inhibits primordial germ cell proliferation associated with transcription-replication conflicts accumulate and DNA repair defects.
    2. Results provide evidence that fance protein plays an important, but not absolutely essential, role in the initial developmental expansion of the male germ line.
      Title: Dearth and Delayed Maturation of Testicular Germ Cells in Fanconi Anemia E Mutant Male Mice.
    3. Primary ovarian insufficiency is induced by Fance mutation in a mouse model.
      Title: Primary Ovarian Insufficiency Induced by Fanconi Anemia E Mutation in a Mouse Model.
    4. The fact that defects in the human ortholog result in Fanconi anemia disease suggests that this protein has a critical function and is likely evolutionarily conserved.
      Title: FANCE: the link between Fanconi anaemia complex assembly and activity.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Transgenic (2)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables molecular_function ND
    No biological Data available
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within gene expression IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within homeostasis of number of cells IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within meiotic prophase I IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within ovarian follicle development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of Fanconi anaemia nuclear complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of Fanconi anaemia nuclear complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in centrosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in chromatin ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in chromosome ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    Fanconi anemia group E protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001163819.1 → NP_001157291.1  Fanconi anemia group E protein isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longer isoform (1).
      Source sequence(s)
      CT025652
      Consensus CDS
      CCDS89042.1
      UniProtKB/TrEMBL
      B8JJD3, B8JJD5
      Related
      ENSMUSP00000110451.3, ENSMUST00000114803.9
      Conserved Domains (1) summary
      cl12008
      Location:266 → 524
      FANCE_c-term; Fanconi anemia complementation group E protein, C-terminal domain

    2. NM_001163820.1 → NP_001157292.1  Fanconi anemia group E protein isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (2) is shorter than isoform 1.
      Source sequence(s)
      CT025652
      Consensus CDS
      CCDS89043.1
      UniProtKB/TrEMBL
      B8JJD5, F7DAL6
      Related
      ENSMUSP00000110452.5, ENSMUST00000114804.11
      Conserved Domains (1) summary
      cl12008
      Location:266 → 482
      FANCE_c-term; Fanconi anemia complementation group E protein, C-terminal domain

    RNA

    1. NR_028296.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an internal alternate exon and uses an internal alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      AK013325, AK135017, BY740269, CT025652
      Related
      ENSMUST00000133527.9

    2. NR_028297.1 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) uses an internal alternate splice site, compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
      Source sequence(s)
      BC039987, BY740269, CT025652
      Related
      ENSMUST00000088007.12

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000083.7 Reference GRCm39 C57BL/6J

      Range
      28532504..28545548
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_028348.1: Suppressed sequence

      Description
      NM_028348.1: This RefSeq was permanently suppressed because currently there is support for the transcript but not for the protein.
    Nucleotide Protein Strain
    Heading Accession and Version

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