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Aliases for FANCC Gene

Aliases for FANCC Gene

  • Fanconi Anemia, Complementation Group C 2 3
  • FACC 3 4
  • FAC 3 4
  • Protein FACC 4
  • FA3 3

External Ids for FANCC Gene

Previous HGNC Symbols for FANCC Gene

  • FACC

Previous GeneCards Identifiers for FANCC Gene

  • GC09M088680
  • GC09M089589
  • GC09M091160
  • GC09M093202
  • GC09M094940
  • GC09M096901
  • GC09M097861
  • GC09M067470

Summaries for FANCC Gene

Entrez Gene Summary for FANCC Gene

  • The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group C. [provided by RefSeq, Jul 2008]

GeneCards Summary for FANCC Gene

FANCC (Fanconi Anemia, Complementation Group C) is a Protein Coding gene. Diseases associated with FANCC include fanconi anemia, complementation group c and fancc-related fanconi anemia. Among its related pathways are Chks in Checkpoint Regulation and BRCA1 Pathway.

UniProtKB/Swiss-Prot for FANCC Gene

  • DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1.

Gene Wiki entry for FANCC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FANCC Gene

Genomics for FANCC Gene

Regulatory Elements for FANCC Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for FANCC Gene

Chromosome:
9
Start:
95,099,054 bp from pter
End:
95,317,709 bp from pter
Size:
218,656 bases
Orientation:
Minus strand

Genomic View for FANCC Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for FANCC Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FANCC Gene

Proteins for FANCC Gene

  • Protein details for FANCC Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q00597-FANCC_HUMAN
    Recommended name:
    Fanconi anemia group C protein
    Protein Accession:
    Q00597
    Secondary Accessions:
    • B1ALR8

    Protein attributes for FANCC Gene

    Size:
    558 amino acids
    Molecular mass:
    63429 Da
    Quaternary structure:
    • Belongs to the multisubunit FA complex composed of FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL/PHF9 and FANCM. This complex may also include HSP70. The complex is not found in FA patients. Interacts with ZBTB32. Upon IFNG induction, interacts with STAT1. Interacts with CDK1. Interacts with EIF2AK2; interaction between FA variants and EIF2AK2 may lead to augmented EIF2AK2 activation and cell death.

neXtProt entry for FANCC Gene

Proteomics data for FANCC Gene at MOPED

Post-translational modifications for FANCC Gene

  • Ubiquitination at Lys 447
  • Modification sites at PhosphoSitePlus

Other Protein References for FANCC Gene

Antibody Products

No data available for DME Specific Peptides for FANCC Gene

Domains & Families for FANCC Gene

Gene Families for FANCC Gene

Protein Domains for FANCC Gene

Suggested Antigen Peptide Sequences for FANCC Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FANCC: view

No data available for UniProtKB/Swiss-Prot for FANCC Gene

Function for FANCC Gene

Molecular function for FANCC Gene

GENATLAS Biochemistry:
gene controlling the correct functioning of the replicative,repair and recombination machineries,involved in the fidelity of end-joining of specific double strand break in the cytoplasmic defense against a specific class of genotoxic agents and in the repair of oxidatively damaged DNA
UniProtKB/Swiss-Prot Function:
DNA repair protein that may operate in a postreplication repair or a cell cycle checkpoint function. May be implicated in interstrand DNA cross-link repair and in the maintenance of normal chromosome stability. Upon IFNG induction, may facilitate STAT1 activation by recruiting STAT1 to IFNGR1.

Gene Ontology (GO) - Molecular Function for FANCC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 9596688
genes like me logo Genes that share ontologies with FANCC: view
genes like me logo Genes that share phenotypes with FANCC: view

Animal Models for FANCC Gene

MGI Knock Outs for FANCC:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FANCC

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FANCC Gene

Localization for FANCC Gene

Subcellular locations from UniProtKB/Swiss-Prot for FANCC Gene

Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmic.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FANCC Gene COMPARTMENTS Subcellular localization image for FANCC gene
Compartment Confidence
cytosol 5
nucleus 5
mitochondrion 1

Gene Ontology (GO) - Cellular Components for FANCC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000785 chromatin IEA --
GO:0005634 nucleus TAS 9398857
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm TAS 9398857
GO:0005829 cytosol IDA 9596688
genes like me logo Genes that share ontologies with FANCC: view

Pathways & Interactions for FANCC Gene

genes like me logo Genes that share pathways with FANCC: view

Pathways by source for FANCC Gene

1 BioSystems pathway for FANCC Gene
2 Reactome pathways for FANCC Gene
1 KEGG pathway for FANCC Gene
1 GeneGo (Thomson Reuters) pathway for FANCC Gene

SIGNOR curated interactions for FANCC Gene

Activates:

Gene Ontology (GO) - Biological Process for FANCC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002262 myeloid cell homeostasis IEA --
GO:0006281 DNA repair TAS --
GO:0006289 nucleotide-excision repair IEA --
GO:0006461 protein complex assembly TAS 9398857
GO:0007276 gamete generation --
genes like me logo Genes that share ontologies with FANCC: view

Drugs & Compounds for FANCC Gene

(3) Drugs for FANCC Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Melphalan Approved Pharma 664
Mitomycin Approved Pharma Inhibits DNA synthesis,antibiotic and antitumor agent 0
Adenine Approved Nutra 0

(2) Additional Compounds for FANCC Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
diepoxybutane
oxygen
  • Dioxygen
  • Molecular oxygen
  • O2
  • Oxygen
  • Oxygen molecule
7782-44-7
genes like me logo Genes that share compounds with FANCC: view

Transcripts for FANCC Gene

mRNA/cDNA for FANCC Gene

Unigene Clusters for FANCC Gene

Fanconi anemia, complementation group C:
Representative Sequences:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for FANCC

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FANCC Gene

No ASD Table

Relevant External Links for FANCC Gene

GeneLoc Exon Structure for
FANCC
ECgene alternative splicing isoforms for
FANCC

Expression for FANCC Gene

mRNA expression in normal human tissues for FANCC Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FANCC Gene

This gene is overexpressed in Liver (x5.1).

Protein differential expression in normal tissues from HIPED for FANCC Gene

This gene is overexpressed in Liver (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FANCC Gene



SOURCE GeneReport for Unigene cluster for FANCC Gene Hs.494529

mRNA Expression by UniProt/SwissProt for FANCC Gene

Q00597-FANCC_HUMAN
Tissue specificity: Ubiquitous
genes like me logo Genes that share expression patterns with FANCC: view

Protein tissue co-expression partners for FANCC Gene

Primer Products

In Situ Assay Products

Orthologs for FANCC Gene

This gene was present in the common ancestor of chordates.

Orthologs for FANCC Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia FANCC 35
  • 82.22 (n)
  • 74.59 (a)
FANCC 36
  • 73 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FANCC 35
  • 84.06 (n)
  • 77.08 (a)
FANCC 36
  • 77 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fancc 35
  • 78.32 (n)
  • 68.47 (a)
Fancc 16
Fancc 36
  • 67 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia FANCC 35
  • 99.4 (n)
  • 99.1 (a)
FANCC 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fancc 35
  • 77.42 (n)
  • 67.03 (a)
oppossum
(Monodelphis domestica)
Mammalia FANCC 36
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves FANCC 35
  • 61.21 (n)
  • 49.82 (a)
FANCC 36
  • 49 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FANCC 36
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fancc 35
  • 53.01 (n)
  • 40.22 (a)
zebrafish
(Danio rerio)
Actinopterygii fancc 35
  • 45.12 (n)
  • 33.84 (a)
fancc 36
  • 29 (a)
OneToOne
Species with no ortholog for FANCC:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FANCC Gene

ENSEMBL:
Gene Tree for FANCC (if available)
TreeFam:
Gene Tree for FANCC (if available)

Paralogs for FANCC Gene

No data available for Paralogs for FANCC Gene

Variants for FANCC Gene

Sequence variations from dbSNP and Humsavar for FANCC Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type MAF
rs171417 -- 95,183,514(-) TGTTC(G/T)CCTAT intron-variant
rs173339 -- 95,277,061(+) tccta(C/T)gcatg intron-variant
rs184818 -- 95,282,923(+) ataga(A/G)caaaa intron-variant
rs187172 -- 95,302,149(-) ATTCA(C/G)GGTAA intron-variant
rs242448 -- 95,191,097(-) CATGG(A/T)CTTGA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for FANCC Gene

Variant ID Type Subtype PubMed ID
nsv831656 CNV Loss 17160897
nsv831657 CNV Loss 17160897

Variation tolerance for FANCC Gene

Residual Variation Intolerance Score: 30.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.37; 54.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FANCC Gene

HapMap Linkage Disequilibrium report
FANCC
Human Gene Mutation Database (HGMD)
FANCC

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FANCC Gene

Disorders for FANCC Gene

MalaCards: The human disease database

(11) MalaCards diseases for FANCC Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
fanconi anemia, complementation group c
  • fanconi anemia complementation group c
fancc-related fanconi anemia
congenital hypoplastic anemia
  • congenital aplastic anemia
fanconi anemia, complementation group a
  • fanconi's anemia
fanconi syndrome
  • fanconi-bickel syndrome
- elite association
Search FANCC in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FANCC_HUMAN
  • Fanconi anemia complementation group C (FANCC) [MIM:227645]: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair. {ECO:0000269 PubMed:11520787, ECO:0000269 PubMed:15299030, ECO:0000269 PubMed:1574115, ECO:0000269 PubMed:8128956, ECO:0000269 PubMed:8499901, ECO:0000269 PubMed:8844212, ECO:0000269 PubMed:9242535}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for FANCC Gene

Fanconi anemia,autosomal recessive,complementation group C,characterized by progressive bone marrow failure (pancytopenia),often associated with skeletal abnormalities,radial hypoplasia and vertebral defect and an increased cancer risk with spontaneous chromosomal breakage exacerbated by exposure to DNA cross-linking agents

Relevant External Links for FANCC

Genetic Association Database (GAD)
FANCC
Human Genome Epidemiology (HuGE) Navigator
FANCC
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FANCC
genes like me logo Genes that share disorders with FANCC: view

Publications for FANCC Gene

  1. FANCC suppresses short telomere-initiated telomere sister chromatid exchange. (PMID: 20022886) Rhee D.B. … Liu Y. (Hum. Mol. Genet. 2010) 23 67
  2. Fanconi anemia pathway heterogeneity revealed by cisplatin and oxaliplatin treatments. (PMID: 20034732) Kachnic L.A. … Willers H. (Cancer Lett. 2010) 23 67
  3. Identification and characterization of mutations in FANCL gene: a second case of Fanconi anemia belonging to FA-L complementation group. (PMID: 19405097) Ali A.M. … Meetei A.R. (Hum. Mutat. 2009) 23 67
  4. Fanconi anemia complementation group FANCD2 protein serine 331 phosphorylation is important for fanconi anemia pathway function and BRCA2 interaction. (PMID: 19861535) Zhi G. … Kupfer G.M. (Cancer Res. 2009) 23 67
  5. Alterations in candidate genes PHF2, FANCC, PTCH1 and XPA at chromosomal 9q22.3 region: pathological significance in early- and late-onset breast carcinoma. (PMID: 18990233) Sinha S. … Panda C.K. (Mol. Cancer 2008) 23 67

Products for FANCC Gene

Sources for FANCC Gene

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