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    Fancd2 Fanconi anemia, complementation group D2 [ Mus musculus (house mouse) ]

    Gene ID: 211651, updated on 19-Mar-2024

    Summary

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    Official Symbol
    Fancd2provided by MGI
    Official Full Name
    Fanconi anemia, complementation group D2provided by MGI
    Primary source
    MGI:MGI:2448480
    See related
    Ensembl:ENSMUSG00000034023 AllianceGenome:MGI:2448480
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    FA4; FAD; FACD; FA-D2; FANCD; 2410150O07Rik
    Summary
    Predicted to enable DNA polymerase binding activity. Acts upstream of or within several processes, including homologous chromosome pairing at meiosis; neuronal stem cell population maintenance; and regulation of regulatory T cell differentiation. Located in condensed chromosome and nucleus. Used to study Fanconi anemia complementation group D2. Human ortholog(s) of this gene implicated in Fanconi anemia; Fanconi anemia complementation group D2; and breast cancer. Orthologous to human FANCD2 (FA complementation group D2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Broad expression in CNS E11.5 (RPKM 4.2), liver E14 (RPKM 4.2) and 20 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Fancd2 in Genome Data Viewer
    Location:
    6 E3; 6 52.78 cM
    Exon count:
    44
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 6 NC_000072.7 (113508622..113573981)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 6 NC_000072.6 (113531640..113597020)

    Chromosome 6 - NC_000072.7Genomic Context describing neighboring genes Neighboring gene proline-rich transmembrane protein 3 Neighboring gene CapStarr-seq enhancer MGSCv37_chr6:113467707-113467969 Neighboring gene ER membrane protein complex subunit 3 Neighboring gene STARR-seq mESC enhancer starr_17043 Neighboring gene predicted gene, 46971 Neighboring gene predicted gene, 38874 Neighboring gene STARR-seq mESC enhancer starr_17044 Neighboring gene Fancd2 opposite strand Neighboring gene BRICK1, SCAR/WAVE actin-nucleating complex subunit Neighboring gene von Hippel-Lindau tumor suppressor

    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. The Validation of a Precursor Lesion of Epithelial Ovarian Cancer in Fancd2-KO Mice. Sczelecki S, et al. Cancers (Basel), 2023 May 3. PMID 37174061, Free PMC Article
    2. Inherited DNA Repair Defects Disrupt the Structure and Function of Human Skin. Ruiz-Torres S, et al. Cell Stem Cell, 2021 Mar 4. PMID 33232662, Free PMC Article
    3. Novel TALEN-generated mCitrine-FANCD2 fusion reporter mouse model for in vivo research of DNA damage response. Sabol M, et al. DNA Repair (Amst), 2020 Oct. PMID 32717583
    4. FANCD2 is required for the repression of germline transposable elements. Nie Y, et al. Reproduction, 2020 Jun. PMID 32163912, Free PMC Article
    5. Sex-specific hepatic lipid and bile acid metabolism alterations in Fancd2-deficient mice following dietary challenge. Moore ES, et al. J Biol Chem, 2019 Oct 25. PMID 31434739, Free PMC Article

    See all (94) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. FANCD2 deficiency sensitizes SHH medulloblastoma to radiotherapy via ferroptosis.
      Title: FANCD2 deficiency sensitizes SHH medulloblastoma to radiotherapy via ferroptosis.
    2. DNA repair protein FANCD2 has both ubiquitination-dependent and ubiquitination-independent functions during germ cell development.
      Title: DNA repair protein FANCD2 has both ubiquitination-dependent and ubiquitination-independent functions during germ cell development.
    3. FANCD2 and HES1 suppress inflammation-induced PPAR to prevent haematopoietic stem cell exhaustion.
      Title: FANCD2 and HES1 suppress inflammation-induced PPARɣ to prevent haematopoietic stem cell exhaustion.
    4. FANCD2 is required for the repression of germline transposable elements.
      Title: FANCD2 is required for the repression of germline transposable elements.
    5. Novel TALEN-generated mCitrine-FANCD2 fusion reporter mouse model for in vivo research of DNA damage response.
      Title: Novel TALEN-generated mCitrine-FANCD2 fusion reporter mouse model for in vivo research of DNA damage response.
    6. The anemia observed in the Fancd2(-/-) mice has not been described in other Fanconia anemia models.
      Title: Severe Fanconi Anemia phenotypes in Fancd2 depletion mice.
    7. Upon Paigen diet challenge, male Fancd2 (-/-) mice had altered expression of genes encoding hepatic bile acid transporters and cholesterol and fatty acid metabolism proteins.
      Title: Sex-specific hepatic lipid and bile acid metabolism alterations in Fancd2-deficient mice following dietary challenge.
    8. Deletion of Fancd2 in mouse hematopoietic stem and progenitor cells leads to increase in mitochondrial number, and enzyme activity of mitochondrion-encoded respiratory complexes.
      Title: Fancd2-deficient hematopoietic stem and progenitor cells depend on augmented mitochondrial translation for survival and proliferation.
    9. Studies indicate common and distinct functions of Fanconi anemia complementation group I (FANCI) and Fanconi Anemia Group D2 Protein (FANCD2) during mouse development, meiotic recombination and hematopoiesis.
      Title: A Fanci knockout mouse model reveals common and distinct functions for FANCI and FANCD2.
    10. Data indicate that linker of T-cell receptor pathways protein(Lnk) deficiency restores phenotypic hematopoietic stem cells (HSCs) in Fanconi anemia, complementation group D2 protein knockout (Fancd2-/-) mice.
      Title: Lnk/Sh2b3 deficiency restores hematopoietic stem cell function and genome integrity in Fancd2 deficient Fanconi anemia.
    Submit: New GeneRIF Correction See all GeneRIFs (37)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Pathways from PubChem

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    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 DNA polymerase binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA polymerase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    acts_upstream_of_or_within DNA damage response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in DNA repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within brain morphogenesis IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within cell cycle IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within cellular response to oxidative stress IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in double-strand break repair involved in meiotic recombination IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within gamete generation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in homologous chromosome pairing at meiosis IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within homologous chromosome pairing at meiosis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in interstrand cross-link repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in mitotic intra-S DNA damage checkpoint signaling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within multicellular organism development IEA
    Inferred from Electronic Annotation
    more info
    		  
    acts_upstream_of_or_within neuronal stem cell population maintenance IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of CD40 signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of DNA-binding transcription factor activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of inflammatory response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within regulation of regulatory T cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in response to gamma radiation ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    part_of DNA repair complex ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in condensed chromosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in condensed chromosome IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nuclear body ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleolus ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in nucleoplasm ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    Fanconi anemia group D2 protein homolog

    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_001033244.3 → NP_001028416.2  Fanconi anemia group D2 protein homolog isoform 1

      See identical proteins and their annotated locations for NP_001028416.2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AK142384, CJ047251, CV559626
      Consensus CDS
      CCDS20426.1
      UniProtKB/Swiss-Prot
      Q80V62, Q9CWC7
      UniProtKB/TrEMBL
      B2RSU4, Q3UQJ0
      Related
      ENSMUSP00000045667.6, ENSMUST00000036340.12
      Conserved Domains (1) summary
      pfam14631
      Location:33 → 1415
      FancD2; Fanconi anaemia protein FancD2 nuclease

    2. NM_001347350.1 → NP_001334279.1  Fanconi anemia group D2 protein homolog isoform 2

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. It encodes a shorter protein (isoform 2), compared to isoform 1.
      Source sequence(s)
      AC153589, AC153910, AK155602
      Consensus CDS
      CCDS85123.1
      UniProtKB/TrEMBL
      A0A0N4SV29, Q3U202
      Related
      ENSMUSP00000144928.2, ENSMUST00000204827.3

    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_000072.7 Reference GRCm39 C57BL/6J

      Range
      113508622..113573981
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017321490.3 → XP_017176979.1  Fanconi anemia group D2 protein homolog isoform X1

      UniProtKB/TrEMBL
      Q3U202
      Conserved Domains (1) summary
      cl17018
      Location:1 → 1377
      FANC; Fanconi anemia ID complex proteins FANCI and FANCD2

    2. XM_017321491.2 → XP_017176980.1  Fanconi anemia group D2 protein homolog isoform X2

      UniProtKB/TrEMBL
      Q3UQJ0
      Conserved Domains (1) summary
      cl17018
      Location:1 → 1222
      FANC; Fanconi anemia ID complex proteins FANCI and FANCD2

    RNA

    1. XR_004942928.1 RNA Sequence

    2. XR_003956175.2 RNA Sequence

    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q80V62.2 GenPept UniProtKB/Swiss-Prot:Q80V62

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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