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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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