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Fancc Fanconi anemia, complementation group C [ Mus musculus (house mouse) ]

Gene ID: 14088, updated on 2-Nov-2024

Summary

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Official Symbol
Fanccprovided by MGI
Official Full Name
Fanconi anemia, complementation group Cprovided by MGI
Primary source
MGI:MGI:95480
See related
Ensembl:ENSMUSG00000021461 AllianceGenome:MGI:95480
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
Facc
Summary
Acts upstream of or within several processes, including brain morphogenesis; neuronal stem cell population maintenance; and removal of superoxide radicals. Predicted to be located in chromatin and cytosol. Predicted to be part of Fanconi anaemia nuclear complex. Is expressed in several structures, including central nervous system; embryo mesenchyme; gonad; retina nuclear layer; and skeleton. Used to study Fanconi anemia complementation group A and Fanconi anemia complementation group C. Human ortholog(s) of this gene implicated in several diseases, including Fanconi anemia (multiple); acute myeloid leukemia; aspirin-induced respiratory disease; pancreatic cancer; and pancytopenia. Orthologous to human FANCC (FA complementation group C). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in bladder adult (RPKM 3.8), CNS E11.5 (RPKM 3.0) and 28 other tissues See more
Orthologs
human all
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Genomic context

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See Fancc in Genome Data Viewer
Location:
13 B3; 13 32.8 cM
Exon count:
22
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 13 NC_000079.7 (63452519..63645126, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 13 NC_000079.6 (63301334..63497292, complement)

Chromosome 13 - NC_000079.7Genomic Context describing neighboring genes Neighboring gene aminopeptidase O Neighboring gene microRNA 3074-1 Neighboring gene STARR-positive B cell enhancer mm9_chr13:63433953-63434254 Neighboring gene microRNA 24-1 Neighboring gene STARR-seq mESC enhancer starr_34797 Neighboring gene microRNA 27b Neighboring gene STARR-seq mESC enhancer starr_34799 Neighboring gene CapStarr-seq enhancer MGSCv37_chr13:63532981-63533164 Neighboring gene STARR-seq mESC enhancer starr_34801 Neighboring gene STARR-seq mESC enhancer starr_34802 Neighboring gene Ptch1 Hedgehog-responsive enhancers Neighboring gene patched 1 Neighboring gene STARR-seq mESC enhancer starr_34806 Neighboring gene predicted gene, 30655

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 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. Hypoxia-reoxygenation induces premature senescence in FA bone marrow hematopoietic cells. Zhang X, et al. Blood, 2005 Jul 1. PMID 15769896
  2. Critical role of FANCC in JAK2 V617F mutant-induced resistance to DNA cross-linking drugs. Ueda F, et al. Cell Signal, 2013 Nov. PMID 23838005
  3. Fetal origins of hematopoietic failure in a murine model of Fanconi anemia. Kamimae-Lanning AN, et al. Blood, 2013 Mar 14. PMID 23315168, Free PMC Article
  4. p38 MAPK inhibition suppresses the TLR-hypersensitive phenotype in FANCC- and FANCA-deficient mononuclear phagocytes. Anur P, et al. Blood, 2012 Mar 1. PMID 22234699, Free PMC Article
  5. Impaired function of Fanconi anemia type C-deficient macrophages. Liu Y, et al. J Leukoc Biol, 2012 Feb. PMID 22106009, Free PMC Article

See all (103) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Numbers of long-term hematopoietic stem cells from bone marrow of fanca and fancc knockout mice can be greatly enhanced by their collection and processing in physioxia conditions.
    Title: Numbers of long-term hematopoietic stem cells from bone marrow of fanca and fancc knockout mice can be greatly enhanced by their collection and processing in physioxia conditions.
  2. Zika virus depletes neural stem cells and evades selective autophagy by suppressing the Fanconi anemia protein FANCC.
    Title: Zika virus depletes neural stem cells and evades selective autophagy by suppressing the Fanconi anemia protein FANCC.
  3. FancA(-/-) and FancC(-/-) embryos have abnormal skeletal development shown by skeletal malformations, growth delay, and reduced bone mineralization.
    Title: Deletion of the Fanconi Anemia C Gene in Mice Leads to Skeletal Anomalies and Defective Bone Mineralization and Microarchitecture.
  4. TP53 haploinsufficiency completely rescues emergency granulopoiesis in FANCC(-/-) mice.
    Title: TP53 Haploinsufficiency Rescues Emergency Granulopoiesis in FANCC(-/-) Mice.
  5. Genetic deletion of Fancc blocks the autophagic clearance of viruses (virophagy) and increases susceptibility to lethal viral encephalitis. Fanconi anemia complementation group C (FANCC) protein interacts with Parkin, is required in vitro and in vivo for clearance of damaged mitochondria, and decreases mitochondrial reactive oxygen species (ROS) production and inflammasome activation.
    Title: Fanconi Anemia Proteins Function in Mitophagy and Immunity.
  6. Data show that Fanconi anemia, complementation group C protein knockout (Fancc -/-) mice develop hematopoietic chromosomal instability followed by leukemia in an age-dependent manner.
    Title: Leukemia and chromosomal instability in aged Fancc-/- mice.
  7. Loss of Fancc Impairs Antibody-Secreting Cell Differentiation in Mice through Deregulating the Wnt Signaling Pathway
    Title: Loss of Fancc Impairs Antibody-Secreting Cell Differentiation in Mice through Deregulating the Wnt Signaling Pathway.
  8. Combined deficiency of Foxo3a and Fancc or Fancd2 not only impairs the self-renewal capacity but also markedly increases the apoptosis of neural stem and progenitor cells (NSPCs), leading to defective neurogenesis.
    Title: Concomitant inactivation of foxo3a and fancc or fancd2 reveals a two-tier protection from oxidative stress-induced hydrocephalus.
  9. Using mice deficient in both Mus81 and the FA pathway protein FancC, we show both proteins cooperate in parallel pathways, as concomitant loss of FancC and Mus81 triggered cell-type-specific proliferation arrest, apoptosis and DNA damage accumulation in utero.
    Title: Fanconi anemia signaling and Mus81 cooperate to safeguard development and crosslink repair.
  10. Loss of FANCC leads to a drastic increase in stalled/collapsed forks in cells carrying an Mcm4 missense mutation.
    Title: A concomitant loss of dormant origins and FANCC exacerbates genome instability by impairing DNA replication fork progression.
Submit: New GeneRIF Correction See all GeneRIFs (23)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2) 
  • Targeted (2)  1 citation

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

Process Evidence Code Pubs
acts_upstream_of_or_within brain morphogenesis IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in cellular response to oxidative stress IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within cellular response to oxidative stress IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within gamete generation IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within germ cell development IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in interstrand cross-link repair IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within myeloid cell homeostasis IGI
Inferred from Genetic Interaction
more info
 PubMed 
acts_upstream_of_or_within myeloid cell homeostasis IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within neuronal stem cell population maintenance IGI
Inferred from Genetic Interaction
more info
 PubMed 
involved_in nucleotide-excision repair IBA
Inferred from Biological aspect of Ancestor
more info
  
acts_upstream_of_or_within nucleotide-excision repair IMP
Inferred from Mutant Phenotype
more info
 PubMed 
acts_upstream_of_or_within removal of superoxide radicals IGI
Inferred from Genetic Interaction
more info
 PubMed 
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
  
part_of Fanconi anaemia nuclear complex ISS
Inferred from Sequence or Structural Similarity
more info
  
located_in chromatin IEA
Inferred from Electronic Annotation
more info
  
located_in chromatin ISO
Inferred from Sequence Orthology
more info
  
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in cytosol ISO
Inferred from Sequence Orthology
more info
  

General protein information

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Preferred Names
Fanconi anemia group C 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_001042673.2 → NP_001036138.1  Fanconi anemia group C protein homolog isoform 1

    See identical proteins and their annotated locations for NP_001036138.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 3' coding region and differs in the 3' UTR, compared to variant 4, resulting in an isoform (1) that is shorter than isoform 3. Both variants 1 and 2 encode isoform 1.
    Source sequence(s)
    AK035488, AK163161, AV232342
    Consensus CDS
    CCDS36700.1
    UniProtKB/TrEMBL
    Q3UI88, Q8CBR3
    Related
    ENSMUSP00000072788.6, ENSMUST00000073029.13
    Conserved Domains (1) summary
    pfam02106
    Location:10 → 555
    Fanconi_C; Fanconi anaemia group C protein

  2. NM_001282942.1 → NP_001269871.1  Fanconi anemia group C protein homolog isoform 2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, initiates translation at a downstream in-frame start codon, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 4. The encoded isoform (2) has a shorter N-terminus, compared to isoform 3.
    Source sequence(s)
    AK147025, AK163161, BY431920
    Consensus CDS
    CCDS70472.1
    UniProtKB/TrEMBL
    E9QAE8
    Related
    ENSMUSP00000097043.4, ENSMUST00000099444.10
    Conserved Domains (1) summary
    pfam02106
    Location:1 → 458
    Fanconi_C; Fanconi anaemia group C protein

  3. NM_001347514.1 → NP_001334443.1  Fanconi anemia group C protein homolog isoform 3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) encodes the longest isoform (3).
    Source sequence(s)
    AK147025, BY431920, CJ058789, CT009757, L08266
    Consensus CDS
    CCDS84029.1
    UniProtKB/Swiss-Prot
    E9PXX6, P50652
    UniProtKB/TrEMBL
    Q3UI88
    Related
    ENSMUSP00000124406.2, ENSMUST00000163091.8
    Conserved Domains (1) summary
    pfam02106
    Location:10 → 588
    Fanconi_C; Fanconi anaemia group C protein

  4. NM_001347515.1 → NP_001334444.1  Fanconi anemia group C protein homolog isoform 4

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) differs in the 5' UTR, initiates translation from an alternate start codon, and lacks an alternate in-frame exon in the 3' coding region, compared to variant 4. The encoded isoform (4) has a distinct N-terminus and is shorter than isoform 3.
    Source sequence(s)
    AC130827, AK147025, BY431920, CJ058789, CJ079722
    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:32 → 577
    Fanconi_C; Fanconi anaemia group C protein

  5. NM_007985.3 → NP_032011.2  Fanconi anemia group C protein homolog isoform 1

    See identical proteins and their annotated locations for NP_032011.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) lacks an alternate in-frame exon in the 3' coding region, compared to variant 4, resulting in an isoform (1) that is shorter than isoform 3. Both variants 1 and 2 encode isoform 1.
    Source sequence(s)
    AK147025, AK163161, BY431920
    Consensus CDS
    CCDS36700.1
    UniProtKB/TrEMBL
    Q3UI88, Q8CBR3
    Related
    ENSMUSP00000123817.2, ENSMUST00000161977.8
    Conserved Domains (1) summary
    pfam02106
    Location:10 → 555
    Fanconi_C; Fanconi anaemia group C protein

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_000079.7 Reference GRCm39 C57BL/6J

    Range
    63452519..63645126 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011244476.4 → XP_011242778.1  Fanconi anemia group C protein homolog isoform X4

    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:32 → 553
    Fanconi_C; Fanconi anaemia group C protein

  2. XM_006517087.5 → XP_006517150.1  Fanconi anemia group C protein homolog isoform X3

    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:32 → 610
    Fanconi_C; Fanconi anaemia group C protein

  3. XM_011244484.3 → XP_011242786.1  Fanconi anemia group C protein homolog isoform X12

    Conserved Domains (1) summary
    pfam02106
    Location:1 → 491
    Fanconi_C; Fanconi anaemia group C protein

  4. XM_011244483.3 → XP_011242785.1  Fanconi anemia group C protein homolog isoform X11

    Conserved Domains (1) summary
    pfam02106
    Location:1 → 504
    Fanconi_C; Fanconi anaemia group C protein

  5. XM_011244477.3 → XP_011242779.1  Fanconi anemia group C protein homolog isoform X5

    See identical proteins and their annotated locations for XP_011242779.1

    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:10 → 601
    Fanconi_C; Fanconi anaemia group C protein

  6. XM_030247147.1 → XP_030103007.1  Fanconi anemia group C protein homolog isoform X14

    Conserved Domains (1) summary
    pfam02106
    Location:1 → 413
    Fanconi_C; Fanconi anaemia group C protein

  7. XM_011244481.3 → XP_011242783.1  Fanconi anemia group C protein homolog isoform X8

    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:32 → 577
    Fanconi_C; Fanconi anaemia group C protein

  8. XM_011244475.3 → XP_011242777.1  Fanconi anemia group C protein homolog isoform X2

    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:32 → 610
    Fanconi_C; Fanconi anaemia group C protein

  9. XM_011244480.3 → XP_011242782.1  Fanconi anemia group C protein homolog isoform X6

    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:32 → 590
    Fanconi_C; Fanconi anaemia group C protein

  10. XM_011244482.4 → XP_011242784.1  Fanconi anemia group C protein homolog isoform X9

    Conserved Domains (1) summary
    pfam02106
    Location:32 → 548
    Fanconi_C; Fanconi anaemia group C protein

  11. XM_011244474.3 → XP_011242776.1  Fanconi anemia group C protein homolog isoform X1

    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:32 → 623
    Fanconi_C; Fanconi anaemia group C protein

  12. XM_017315382.3 → XP_017170871.1  Fanconi anemia group C protein homolog isoform X7

    UniProtKB/Swiss-Prot
    E9PXX6, P50652
    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:10 → 588
    Fanconi_C; Fanconi anaemia group C protein

  13. XM_036157847.1 → XP_036013740.1  Fanconi anemia group C protein homolog isoform X10

    UniProtKB/TrEMBL
    Q3UI88, Q8CBR3
    Conserved Domains (1) summary
    pfam02106
    Location:10 → 555
    Fanconi_C; Fanconi anaemia group C protein

  14. XM_030247148.2 → XP_030103008.1  Fanconi anemia group C protein homolog isoform X14

    Conserved Domains (1) summary
    pfam02106
    Location:1 → 413
    Fanconi_C; Fanconi anaemia group C protein

  15. XM_011244485.4 → XP_011242787.1  Fanconi anemia group C protein homolog isoform X13

    Conserved Domains (1) summary
    pfam02106
    Location:3 → 460
    Fanconi_C; Fanconi anaemia group C protein

  16. XM_011244478.2 → XP_011242780.1  Fanconi anemia group C protein homolog isoform X5

    See identical proteins and their annotated locations for XP_011242780.1

    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:10 → 601
    Fanconi_C; Fanconi anaemia group C protein

  17. XM_030247144.2 → XP_030103004.1  Fanconi anemia group C protein homolog isoform X5

    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:10 → 601
    Fanconi_C; Fanconi anaemia group C protein

  18. XM_030247145.2 → XP_030103005.1  Fanconi anemia group C protein homolog isoform X5

    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:10 → 601
    Fanconi_C; Fanconi anaemia group C protein

  19. XM_006517090.4 → XP_006517153.1  Fanconi anemia group C protein homolog isoform X7

    See identical proteins and their annotated locations for XP_006517153.1

    UniProtKB/Swiss-Prot
    E9PXX6, P50652
    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:10 → 588
    Fanconi_C; Fanconi anaemia group C protein

  20. XM_036157844.1 → XP_036013737.1  Fanconi anemia group C protein homolog isoform X5

    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:10 → 601
    Fanconi_C; Fanconi anaemia group C protein

  21. XM_036157845.1 → XP_036013738.1  Fanconi anemia group C protein homolog isoform X7

    UniProtKB/Swiss-Prot
    E9PXX6, P50652
    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:10 → 588
    Fanconi_C; Fanconi anaemia group C protein

  22. XM_036157846.1 → XP_036013739.1  Fanconi anemia group C protein homolog isoform X10

    UniProtKB/TrEMBL
    Q3UI88, Q8CBR3
    Conserved Domains (1) summary
    pfam02106
    Location:10 → 555
    Fanconi_C; Fanconi anaemia group C protein

  23. XM_036157848.1 → XP_036013741.1  Fanconi anemia group C protein homolog isoform X15

    Conserved Domains (1) summary
    pfam02106
    Location:1 → 380
    Fanconi_C; Fanconi anaemia group C protein

RNA

  1. XR_003950426.1 RNA Sequence

  2. XR_004937940.1 RNA Sequence

  3. XR_001780750.3 RNA Sequence

Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P50652.2 GenPept UniProtKB/Swiss-Prot:P50652

Gene LinkOut

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