U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Gene ID: 14088, updated on 21-Apr-2024

Summary

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; reproductive system; retina nuclear layer; and skeleton. Used to study 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, Apr 2022]
Expression
Ubiquitous expression in bladder adult (RPKM 3.8), CNS E11.5 (RPKM 3.0) and 28 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

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

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)
  • Targeted (2)  1 citation
  • Endonuclease-mediated (1) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Process Evidence Code Pubs
acts_upstream_of_or_within DNA damage response IEA
Inferred from Electronic Annotation
more info
 
acts_upstream_of_or_within DNA repair IEA
Inferred from Electronic Annotation
more info
 
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 chromatin ISO
Inferred from Sequence Orthology
more info
 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol ISO
Inferred from Sequence Orthology
more info
 
located_in nucleus IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
Fanconi anemia group C 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_001042673.2NP_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:10555
    Fanconi_C; Fanconi anaemia group C protein
  2. NM_001282942.1NP_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:1458
    Fanconi_C; Fanconi anaemia group C protein
  3. NM_001347514.1NP_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:10588
    Fanconi_C; Fanconi anaemia group C protein
  4. NM_001347515.1NP_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:32577
    Fanconi_C; Fanconi anaemia group C protein
  5. NM_007985.3NP_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:10555
    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_011244476.4XP_011242778.1  Fanconi anemia group C protein homolog isoform X4

    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:32553
    Fanconi_C; Fanconi anaemia group C protein
  2. XM_006517087.5XP_006517150.1  Fanconi anemia group C protein homolog isoform X3

    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:32610
    Fanconi_C; Fanconi anaemia group C protein
  3. XM_011244484.3XP_011242786.1  Fanconi anemia group C protein homolog isoform X12

    Conserved Domains (1) summary
    pfam02106
    Location:1491
    Fanconi_C; Fanconi anaemia group C protein
  4. XM_011244483.3XP_011242785.1  Fanconi anemia group C protein homolog isoform X11

    Conserved Domains (1) summary
    pfam02106
    Location:1504
    Fanconi_C; Fanconi anaemia group C protein
  5. XM_011244477.3XP_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:10601
    Fanconi_C; Fanconi anaemia group C protein
  6. XM_030247147.1XP_030103007.1  Fanconi anemia group C protein homolog isoform X14

    Conserved Domains (1) summary
    pfam02106
    Location:1413
    Fanconi_C; Fanconi anaemia group C protein
  7. XM_011244481.3XP_011242783.1  Fanconi anemia group C protein homolog isoform X8

    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:32577
    Fanconi_C; Fanconi anaemia group C protein
  8. XM_011244475.3XP_011242777.1  Fanconi anemia group C protein homolog isoform X2

    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:32610
    Fanconi_C; Fanconi anaemia group C protein
  9. XM_011244480.3XP_011242782.1  Fanconi anemia group C protein homolog isoform X6

    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:32590
    Fanconi_C; Fanconi anaemia group C protein
  10. XM_011244482.4XP_011242784.1  Fanconi anemia group C protein homolog isoform X9

    Conserved Domains (1) summary
    pfam02106
    Location:32548
    Fanconi_C; Fanconi anaemia group C protein
  11. XM_011244474.3XP_011242776.1  Fanconi anemia group C protein homolog isoform X1

    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:32623
    Fanconi_C; Fanconi anaemia group C protein
  12. XM_017315382.3XP_017170871.1  Fanconi anemia group C protein homolog isoform X7

    UniProtKB/Swiss-Prot
    E9PXX6, P50652
    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:10588
    Fanconi_C; Fanconi anaemia group C protein
  13. XM_036157847.1XP_036013740.1  Fanconi anemia group C protein homolog isoform X10

    UniProtKB/TrEMBL
    Q3UI88, Q8CBR3
    Conserved Domains (1) summary
    pfam02106
    Location:10555
    Fanconi_C; Fanconi anaemia group C protein
  14. XM_030247148.2XP_030103008.1  Fanconi anemia group C protein homolog isoform X14

    Conserved Domains (1) summary
    pfam02106
    Location:1413
    Fanconi_C; Fanconi anaemia group C protein
  15. XM_011244485.4XP_011242787.1  Fanconi anemia group C protein homolog isoform X13

    Conserved Domains (1) summary
    pfam02106
    Location:3460
    Fanconi_C; Fanconi anaemia group C protein
  16. XM_011244478.2XP_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:10601
    Fanconi_C; Fanconi anaemia group C protein
  17. XM_030247144.2XP_030103004.1  Fanconi anemia group C protein homolog isoform X5

    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:10601
    Fanconi_C; Fanconi anaemia group C protein
  18. XM_030247145.2XP_030103005.1  Fanconi anemia group C protein homolog isoform X5

    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:10601
    Fanconi_C; Fanconi anaemia group C protein
  19. XM_006517090.4XP_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:10588
    Fanconi_C; Fanconi anaemia group C protein
  20. XM_036157844.1XP_036013737.1  Fanconi anemia group C protein homolog isoform X5

    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:10601
    Fanconi_C; Fanconi anaemia group C protein
  21. XM_036157845.1XP_036013738.1  Fanconi anemia group C protein homolog isoform X7

    UniProtKB/Swiss-Prot
    E9PXX6, P50652
    UniProtKB/TrEMBL
    Q3UI88
    Conserved Domains (1) summary
    pfam02106
    Location:10588
    Fanconi_C; Fanconi anaemia group C protein
  22. XM_036157846.1XP_036013739.1  Fanconi anemia group C protein homolog isoform X10

    UniProtKB/TrEMBL
    Q3UI88, Q8CBR3
    Conserved Domains (1) summary
    pfam02106
    Location:10555
    Fanconi_C; Fanconi anaemia group C protein
  23. XM_036157848.1XP_036013741.1  Fanconi anemia group C protein homolog isoform X15

    Conserved Domains (1) summary
    pfam02106
    Location:1380
    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