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

Gene ID: 72775, updated on 5-Mar-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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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

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

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 (21) 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)
  • Transgenic (2)  1 citation
  • Endonuclease-mediated (1) 

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
  
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
  
part_of 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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