U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 211651, updated on 28-Dec-2022

Summary

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
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Fancd2 in Genome Data Viewer
Location:
6; 6 E3
Exon count:
44
Annotation release Status Assembly Chr Location
109 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 ER membrane protein complex subunit 3 Neighboring gene predicted gene, 46971 Neighboring gene predicted gene, 38874 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables DNA polymerase binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 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 DNA damage stimulus IMP
Inferred from Mutant Phenotype
more info
PubMed 
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
PubMed 
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
PubMed 
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
PubMed 
involved_in mitotic intra-S DNA damage checkpoint signaling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
located_in nucleus ISO
Inferred from Sequence Orthology
more info
 

General protein information

Preferred Names
Fanconi anemia group D2 protein homolog

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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_001033244.3NP_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:331415
    FancD2; Fanconi anaemia protein FancD2 nuclease
  2. NM_001347350.1NP_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: Mus musculus Annotation Release 109 details...Open this link in a new tab

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_017321490.3XP_017176979.1  Fanconi anemia group D2 protein homolog isoform X1

    Conserved Domains (1) summary
    cl17018
    Location:11377
    FANC; Fanconi anemia ID complex proteins FANCI and FANCD2
  2. XM_017321491.2XP_017176980.1  Fanconi anemia group D2 protein homolog isoform X2

    Conserved Domains (1) summary
    cl17018
    Location:11222
    FANC; Fanconi anemia ID complex proteins FANCI and FANCD2

RNA

  1. XR_004942928.1 RNA Sequence

  2. XR_003956175.2 RNA Sequence