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

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. Is expressed in cerebral cortex subventricular zone; cerebral cortex ventricular layer; and primordial germ cell of gonad. 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, Nov 2024]
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

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_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

FANCD2 deficiency sensitizes SHH medulloblastoma to radiotherapy via ferroptosis.
Title: FANCD2 deficiency sensitizes SHH medulloblastoma to radiotherapy via ferroptosis.
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.
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.
FANCD2 is required for the repression of germline transposable elements.
Title: FANCD2 is required for the repression of germline transposable elements.
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.
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.
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.
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.
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.
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)

Endonuclease-mediated (5) 1 citation
Gene trapped (2) 1 citation
Targeted (1) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

BB137857 (e-PCR)
- UniSTS:185678

D6Mit11 (e-PCR), detects polymorphism
- UniSTS:130653

AU015151 (e-PCR)
- UniSTS:208012

PMC194856P1 (e-PCR)
- UniSTS:271784

PMC196256P1 (e-PCR)
- UniSTS:271804

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	IEA Inferred from Electronic Annotation 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
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 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 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	IEA Inferred from Electronic Annotation more info
involved_in response to gamma radiation	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of DNA repair complex	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
located_in cytosol	ISO Inferred from Sequence Orthology more info
located_in nuclear body	IEA Inferred from Electronic Annotation more info
located_in nuclear body	ISO Inferred from Sequence Orthology more info
located_in nucleolus	IEA Inferred from Electronic Annotation 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)

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
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

NC_000072.7 Reference GRCm39 C57BL/6J

Range

113508622..113573981

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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