FANCC (Fanconi anaemia complementation group C)

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FANCC (Fanconi anaemia complementation group C)

Written	2012-07	Hemantika Dasgupta, Chinmay Kumar Panda
		Chittaranjan National Cancer Institute, 37, S P Mukherjee Road, Kolkata 700026, India

This article is an update of :

	2002-06	Jean-Loup Huret
		Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

	1998-02	Jean-Loup Huret
		Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

Alias (NCBI)	FAC
	FACC
	FA3
HGNC (Hugo)	FANCC
HGNC Alias symb	FAC
	FA3
HGNC Previous name	FACC
HGNC Previous name	Fanconi anemia complementation group C
LocusID (NCBI)	2176
Atlas_Id	101
Location	9q22.32 [Link to chromosome band 9q22]
Location_base_pair	Starts at 95110226 and ends at 95317709 bp from pter ( according to GRCh38/hg38-Dec_2013) [Mapping FANCC.png]
Local_order	Next to PTCH and XPAC !!


	Probe(s) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.

Fusion genes
(updated 2017)

Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

	FANCC (9q22.32)::C9orf3 (9q22.32)	FANCC (9q22.32)::DDX31 (9q34.13)	FANCC (9q22.32)::EFL1 (15q25.2)
	FANCC (9q22.32)::NDE1 (16p13.11)	FANCC (9q22.32)::ROR2 (9q22.31)

DNA/RNA

Description	14 exons; spans 80 kb.
Transcription	mRNA of 2.3, 3.2, and 4.6 kb (alternative splicing in 5', variable 3' untranslated region, exon 13 skipping).

Protein

Description	558 amino acids; 63 kDa.
Expression	Wide, in particular in the bones; high expression in proliferating cells, low in differentiated cells.
Localisation	Cytoplasmic (mostly) and nuclear.
Function	- FANCA and FANCG form a complex in the cytoplasm, through a N-term FANCA (involving the nuclear localization signal) - FANCG interaction; FANCC join the complex; phosphorylation of FANCA would induce its translocation into the nucleus. This FA complex translocates into the nucleus, where FANCE and FANCF are present; FANCE and FANCF join the complex. The FA complex subsequently interacts with FANCD2 by monoubiquitination of FANCD2 during S phase or following DNA damage. Activated (ubiquinated ) FANCD2, downstream in the FA pathway, will then interact with other proteins involved in DNA repair, possibly BRCA1; after DNA repair, FANCD2 return to the non-ubiquinated form. - FANCC may have mutlifunctional roles, in addition to its involvement in the FA pathway. FANCC binds to cdc2 (mitotic cyclin-dependent kinase), STAT1, GRP94 (a chaperon protein), NADPH, and a number of other proteins; involved in DNA repair and in suppressing interferon gamma induced cellular apoptosis. There are 15 FA genes that make up the FA pathway. Among these FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCM and FANCL form the core complex. During G1 phase of cell cycle these proteins are localized in the cytoplasm. During S phase or during DNA damage FANCA and FANCG at first form a complex in the cytoplasm followed by its interaction with FANCC. Then the complex translocates to the nucleus. In the nucleus other FA proteins like FANCE, F, B, M and L interact with the complex. They cooperatively bind to form the core complex. FANCL has E3 ubiquitin ligase activity. The core complex then activates FANCD2 and FANCI by monoubiquitination. The activated FANCD2-FANCI complex then interact with other FA genes like FANCP/SLX4, FANCD1/BRCA2, FANCJ/BRIP1 and FANCN/PALB2 for efficient DNA repair. FANCC helps in accumulation of FANCE and it has role in foci formation of MRE11/RAD50/NBS1 complex in response to intrastrand crosslink inducers. FANCC binds to cdc2 (mitotic cyclin-dependent kinase), it is necessary for DNA damage-induced G2/M checkpoint in vitro and in vivo. In response to oxidative DNA damage, FANCC prevents premature senescence in hematopoietic stem cells. It interacts with cytochrome p-450 reductase and NADPH during increased production of reactive oxygen species (ROS). In hematopoietic stem cells it regulates apoptosis, self renewal capacity and cell cycle control. It inhibits activity of dsRNA dependent protein kinase mediated death signaling pathway by interacting with Hsp70. FANCC and p53 cooperatively work in apoptosis. It has role in suppressing interferon gamma induced cellular apoptosis. In normal oral epithelium, a gradual increase of FANCC protein expression from basal to parabasal layer to spinous layer suggesting its role in cellular proliferation and differentiation. FANCC is important for proper functioning of monocytes/macrophages. It suppresses TNFα production in mononuclear phagocytes by suppressing TLR8 activity. FANCC interacts with STAT1, GRP94 (a chaperon protein). It has role in telomere attrition and telomere recombination.
Homology	No known homology.

Mutations

Germinal

Most mutations are found in exon1, intron 4, and exon 14.

Implicated in

Note

Entity	Fanconi anaemia (FA)
Note	FACC is implicated in the FA complementation group C; it represents about 15% of FA cases.
Disease	Fanconi anaemia is a chromosome instability syndrome/cancer prone disease (at risk of leukaemia).
Prognosis	- Fanconi anaemia's prognosis is poor; mean survival is 16 years: patients die of bone marrow failure (infections, haemorrhages), leukaemia, or androgen therapy related liver tumours. - It has recently been shown that significant phenotypic differences were found between the various complementation groups. FA group C patients had less somatic abnormalities. However, there is a certain clinical heterogeneity.
Cytogenetics	Spontaneous,chromatid/chromosome breaks; increased rate of breaks compared to control, when induced by breaking agent.
Hybrid/Mutated Gene	Mutations in exon 4, 13 leading to deletion of exon 9 were reported in Brazilian Fanconi Anemia patients.
Oncogenesis	Fanconi anemia patients are prone to develop head and neck, esophageal, gastrointestinal, vulvar and anal cancers. Frequent deletion and promoter methylation are observed in FANCC gene in oral cancer, breast cancer, acute leukemia and pancreatic cancer.


Entity	Diabetes and obesity
Note	FANCC prevents diabetes and obesity.

To be noted

Apart from its function in DNA damage repair, FANCC plays important role in apoptosis, cell cycle, differentiation and innate immunity.

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PMID 11239454

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PMID 16127171

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PMID 11673408

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PMID 16020692

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PMID 20554974

Hypermethylation of the FANCC and FANCL promoter regions in sporadic acute leukaemia.

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PMID 18607065

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PMID 15616572

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PMID 22675617

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PMID 17431503

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PMID 21670957

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PMID 16720839

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PMID 12766948

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PMID 20509860

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PMID 12887909

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PMID 19850743

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PMID 11530803

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PMID 16429406

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PMID 15077170

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Citation

This paper should be referenced as such :

Dasgupta, H ; Panda, CK

FANCC (Fanconi anaemia complementation group C)

Atlas Genet Cytogenet Oncol Haematol. 2013;17(1):17-20.

Free journal version : [ pdf ] [ DOI ]

History of this paper:

Jean-Loup Huret. FACC (Fanconi anaemia complementation group C). Atlas Genet Cytogenet Oncol Haematol. 1998;2(1):10-11.

http://documents.irevues.inist.fr/bitstream/handle/2042/32097/02-1998-FACCID101.pdf

Huret, JL. FACC (Fanconi anaemia complementation group C). Atlas Genet Cytogenet Oncol Haematol. 2002;6(4):275-276.

http://documents.irevues.inist.fr/bitstream/handle/2042/37892/06-2002-FACC101.pdf

Other Cancer prone implicated (Data extracted from papers in the Atlas) [ 2 ]

Fanconi anemia Familial Myeloproliferative Disorders

External links

	Nomenclature
HGNC (Hugo)	FANCC 3584
LRG (Locus Reference Genomic)	LRG_497
	Cards
Atlas	FACCID101
Entrez_Gene (NCBI)	FANCC FA complementation group C
Aliases	FA3; FAC; FACC
GeneCards (Weizmann)	FANCC
Ensembl hg19 (Hinxton)	ENSG00000158169 [Gene_View]
Ensembl hg38 (Hinxton)	ENSG00000158169 [Gene_View] ENSG00000158169 [Sequence] chr9:95110226-95317709 [Contig_View] FANCC [Vega]
ICGC DataPortal	ENSG00000158169
TCGA cBioPortal	FANCC
AceView (NCBI)	FANCC
Genatlas (Paris)	FANCC
SOURCE (Princeton)	FANCC
Genetics Home Reference (NIH)	FANCC
	Genomic and cartography
GoldenPath hg38 (UCSC)	FANCC - chr9:95110226-95317709 - 9q22.32 [Description] (hg38-Dec_2013)
GoldenPath hg19 (UCSC)	FANCC - 9q22.32 [Description] (hg19-Feb_2009)
GoldenPath	FANCC - 9q22.32 [CytoView hg19] FANCC - 9q22.32 [CytoView hg38]
ImmunoBase	ENSG00000158169
Genome Data Viewer NCBI	FANCC [Mapview hg19]
OMIM	227645 613899
	Gene and transcription
Genbank (Entrez)	AI280997 AK222871 AK304887 AK310599 AK312548
RefSeq transcript (Entrez)	NM_000136 NM_001243743 NM_001243744
Consensus coding sequences : CCDS (NCBI)	FANCC
Gene Expression	FANCC [ NCBI-GEO ] FANCC [ EBI - ARRAY_EXPRESS ] FANCC [ SEEK ] FANCC [ MEM ]
Gene Expression Viewer (FireBrowse)	FANCC [ Firebrowse - Broad ]
Genevisible	Expression of FANCC in : [tissues] [cell-lines] [cancer] [perturbations]
BioGPS (Tissue expression)	2176
GTEX Portal (Tissue expression)	FANCC
Human Protein Atlas	ENSG00000158169-FANCC [pathology] [cell] [tissue]
	Protein : pattern, domain, 3D structure
UniProt/SwissProt	Q00597 [function] [subcellular_location] [family_and_domains] [pathology_and_biotech] [ptm_processing] [expression] [interaction]
NextProt	Q00597 [Sequence] [Exons] [Medical] [Publications]
With graphics : InterPro	Q00597
PhosPhoSitePlus	Q00597
Domains : Interpro (EBI)	FANCC
Domain families : Pfam (Sanger)	Fanconi_C (PF02106)
Domain families : Pfam (NCBI)	pfam02106
Conserved Domain (NCBI)	FANCC
Superfamily	Q00597
AlphaFold pdb e-kb	Q00597
Human Protein Atlas [tissue]	ENSG00000158169-FANCC [tissue]
HPRD	01967
	Protein Interaction databases
DIP (DOE-UCLA)	Q00597
IntAct (EBI)	Q00597
BioGRID	FANCC
STRING (EMBL)	FANCC
ZODIAC	FANCC
	Ontologies - Pathways
QuickGO	Q00597
Ontology : AmiGO	myeloid cell homeostasis protein binding nucleus nucleoplasm cytoplasm cytosol DNA repair nucleotide-excision repair germ cell development removal of superoxide radicals cellular response to oxidative stress interstrand cross-link repair Fanconi anaemia nuclear complex Fanconi anaemia nuclear complex brain morphogenesis protein-containing complex assembly neuronal stem cell population maintenance
Ontology : EGO-EBI	myeloid cell homeostasis protein binding nucleus nucleoplasm cytoplasm cytosol DNA repair nucleotide-excision repair germ cell development removal of superoxide radicals cellular response to oxidative stress interstrand cross-link repair Fanconi anaemia nuclear complex Fanconi anaemia nuclear complex brain morphogenesis protein-containing complex assembly neuronal stem cell population maintenance
Pathways : BIOCARTA	Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility [Genes] BRCA1-dependent Ub-ligase activity [Genes]
Pathways : KEGG	Fanconi anemia pathway
REACTOME	Q00597 [protein]
REACTOME Pathways	R-HSA-6796648 [pathway]
NDEx Network	FANCC
Atlas of Cancer Signalling Network	FANCC
Wikipedia pathways	FANCC
	Orthology - Evolution
OrthoDB	2176
GeneTree (enSembl)	ENSG00000158169
Phylogenetic Trees/Animal Genes : TreeFam	FANCC
Homologs : HomoloGene	FANCC
Homology/Alignments : Family Browser (UCSC)	FANCC
	Gene fusions - Rearrangements
Fusion : Mitelman	FANCC::C9orf3 [9q22.32/9q22.32]
Fusion : Mitelman	FANCC::DDX31 [9q22.32/9q34.13]
Fusion : Mitelman	FANCC::ROR2 [9q22.32/9q22.31]
Fusion : Quiver	FANCC
	Polymorphisms : SNP and Copy number variants
NCBI Variation Viewer	FANCC [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)	FANCC
dbVar	FANCC
ClinVar	FANCC
Monarch	FANCC
1000_Genomes	FANCC
Exome Variant Server	FANCC
GNOMAD Browser	ENSG00000158169
Varsome Browser	FANCC
ACMG	FANCC variants
Varity	Q00597
Genomic Variants (DGV)	FANCC [DGVbeta]
DECIPHER	FANCC [patients] [syndromes] [variants] [genes]
CONAN: Copy Number Analysis	FANCC
	Mutations
ICGC Data Portal	FANCC
TCGA Data Portal	FANCC
Broad Tumor Portal	FANCC
OASIS Portal	FANCC [ Somatic mutations - Copy number]
Cancer Gene: Census	FANCC
Somatic Mutations in Cancer : COSMIC	FANCC [overview] [genome browser] [tissue] [distribution]
Somatic Mutations in Cancer : COSMIC3D	FANCC
Mutations and Diseases : HGMD	FANCC
LOVD (Leiden Open Variation Database)	[gene] [transcripts] [variants]
BioMuta	FANCC
DgiDB (Drug Gene Interaction Database)	FANCC
DoCM (Curated mutations)	FANCC
CIViC (Clinical Interpretations of Variants in Cancer)	FANCC
OncoKB	FANCC
NCG (London)	FANCC
Cancer3D	FANCC
Impact of mutations	[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
	Diseases
OMIM	227645 613899
Orphanet	634
DisGeNET	FANCC
Medgen	FANCC
Genetic Testing Registry	FANCC
NextProt	Q00597 [Medical]
GENETests	FANCC
Target Validation	FANCC
Huge Navigator	FANCC [HugePedia]
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