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 instab... See more...

Aliases for FANCC Gene

Aliases for FANCC Gene

  • FA Complementation Group C 2 3 5
  • Fanconi Anemia Complementation Group C 2 3
  • Fanconi Anemia Group C Protein 3 4
  • 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]

CIViC Summary for FANCC Gene

GeneCards Summary for FANCC Gene

FANCC (FA Complementation Group C) is a Protein Coding gene. Diseases associated with FANCC include Fanconi Anemia, Complementation Group C and Fanconi Anemia, Complementation Group A. Among its related pathways are Immune response IFN gamma signaling pathway and Gene Expression.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for FANCC Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FANCC Gene

Genomics for FANCC Gene

GeneHancer (GH) Regulatory Elements for FANCC Gene

Promoters and enhancers for FANCC Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FANCC on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FANCC

Top Transcription factor binding sites by QIAGEN in the FANCC gene promoter:
  • aMEF-2
  • Cart-1
  • FOXO1
  • FOXO1a
  • MEF-2
  • MEF-2A
  • Nkx2-5
  • p53
  • STAT1

Genomic Locations for FANCC Gene

Genomic Locations for FANCC Gene
chr9:95,099,054-95,426,796
(GRCh38/hg38)
Size:
327,743 bases
Orientation:
Minus strand
chr9:97,861,336-98,079,991
(GRCh37/hg19)
Size:
218,656 bases
Orientation:
Minus strand

Genomic View for FANCC Gene

Genes around FANCC on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FANCC Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

Post-translational modifications for FANCC Gene

  • Ubiquitination at Lys447
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FANCC Gene

Domains & Families for FANCC Gene

Gene Families for FANCC Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Protein Domains for FANCC Gene

Blocks:
  • Fanconi anaemia group C protein signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FANCC Gene

GenScript: Design optimal peptide antigens:
  • Fanconi anemia group C protein (FANCC_HUMAN)
genes like me logo Genes that share domains with FANCC: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FANCC Gene

Function for FANCC Gene

Molecular function for FANCC Gene

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.
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

Phenotypes From GWAS Catalog for FANCC Gene

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

Human Phenotype Ontology for FANCC Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FANCC Gene

MGI Knock Outs for FANCC:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FANCC

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FANCC gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 2
mitochondrion 2
plasma membrane 1
extracellular 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FANCC Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA,TAS 9398857
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IEA,TAS 9398857
GO:0005829 cytosol IDA 9596688
GO:0043240 Fanconi anaemia nuclear complex IDA,IEA 20347428
genes like me logo Genes that share ontologies with FANCC: view

Pathways & Interactions for FANCC Gene

PathCards logo

SuperPathways for FANCC Gene

SuperPathway Contained pathways
1 Fanconi anemia pathway
2 BRCA1 Pathway
.01
-
3 Gene Expression
4 Chks in Checkpoint Regulation
.32
5 DNA Double-Strand Break Repair
genes like me logo Genes that share pathways with FANCC: view

Pathways by source for FANCC Gene

1 GeneGo (Thomson Reuters) pathway for FANCC Gene
  • Immune response IFN gamma signaling pathway
3 Qiagen pathways for FANCC Gene
  • BRCA1 Pathway
  • DNA Repair Mechanisms
  • Fanconi's Anaemia Pathway

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,IEA 1574115
GO:0006289 nucleotide-excision repair IBA 21873635
GO:0006974 cellular response to DNA damage stimulus IEA --
GO:0007276 gamete generation IEA --
genes like me logo Genes that share ontologies with FANCC: view

Drugs & Compounds for FANCC Gene

(4) Drugs for FANCC Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for FANCC Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FANCC: view

Transcripts for FANCC Gene

mRNA/cDNA for FANCC Gene

3 REFSEQ mRNAs :
16 NCBI additional mRNA sequence :
21 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FANCC

Clone 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

Expression for FANCC Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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 and MOPED for FANCC Gene



Protein tissue co-expression partners for FANCC Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FANCC

SOURCE GeneReport for Unigene cluster for FANCC Gene:

Hs.494529

mRNA Expression by UniProt/SwissProt for FANCC Gene:

Q00597-FANCC_HUMAN
Tissue specificity: Ubiquitous.

Evidence on tissue expression from TISSUES for FANCC Gene

  • Intestine(4.2)
  • Bone marrow(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FANCC Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • stomach
Pelvis:
  • anus
  • ovary
  • pelvis
  • penis
  • prostate
  • rectum
  • testicle
  • ureter
  • uterus
  • vagina
  • vulva
Limb:
  • arm
  • digit
  • finger
  • forearm
  • hand
  • radius
  • upper limb
General:
  • blood
  • blood vessel
  • bone marrow
  • coagulation system
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with FANCC: view

Orthologs for FANCC Gene

This gene was present in the common ancestor of chordates.

Orthologs for FANCC Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FANCC 31 30
  • 99.4 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FANCC 31 30
  • 84.06 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FANCC 31 30
  • 82.22 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fancc 17 31 30
  • 78.32 (n)
rat
(Rattus norvegicus)
Mammalia Fancc 30
  • 77.42 (n)
oppossum
(Monodelphis domestica)
Mammalia FANCC 31
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves FANCC 31 30
  • 61.21 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FANCC 31
  • 48 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fancc 30
  • 53.01 (n)
zebrafish
(Danio rerio)
Actinopterygii fancc 31 30
  • 45.12 (n)
OneToOne
Species where no ortholog for FANCC was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FANCC: view image

Paralogs for FANCC Gene

No data available for Paralogs for FANCC Gene

Variants for FANCC Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FANCC Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
641917 Uncertain Significance: Fanconi anemia 95,107,211(-) G/A MISSENSE_VARIANT
643933 Uncertain Significance: Fanconi anemia 95,117,381(-) C/A MISSENSE_VARIANT
644730 Uncertain Significance: Fanconi anemia 95,125,185(-) C/A MISSENSE_VARIANT
648819 Uncertain Significance: Fanconi anemia 95,135,351(-) A/G MISSENSE_VARIANT
649429 Pathogenic: Fanconi anemia 95,171,092(-) TA/T FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for FANCC Gene

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

Variant ID Type Subtype PubMed ID
esv3621145 CNV loss 21293372
esv3621150 CNV loss 21293372
nsv1038106 CNV gain 25217958
nsv1147999 OTHER inversion 26484159
nsv831656 CNV loss 17160897
nsv831657 CNV loss 17160897
nsv972424 CNV duplication 23825009
nsv972425 CNV duplication 23825009
nsv972787 CNV duplication 23825009

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)

Additional Variant Information for FANCC Gene

Human Gene Mutation Database (HGMD)
FANCC
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FANCC

SNP Genotyping and Copy Number Assay Products

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

Disorders for FANCC Gene

MalaCards: The human disease database

(26) MalaCards diseases for FANCC Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
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

Additional Disease Information for FANCC

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

Publications for FANCC Gene

  1. The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR). (PMID: 15299030) Zhang X … Pang Q (The Journal of biological chemistry 2004) 3 4 23 54
  2. A novel BTB/POZ transcriptional repressor protein interacts with the Fanconi anemia group C protein and PLZF. (PMID: 10572087) Hoatlin ME … Licht JD (Blood 1999) 3 4 23 54
  3. Localization of Fanconi anemia C protein to the cytoplasm of mammalian cells. (PMID: 8058745) Youssoufian H (Proceedings of the National Academy of Sciences of the United States of America 1994) 3 4 23 54
  4. Regulation of Rev1 by the Fanconi anemia core complex. (PMID: 22266823) Kim H … D'Andrea AD (Nature structural & molecular biology 2012) 3 4 54
  5. Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. (PMID: 20496165) Monsees GM … Han J (Breast cancer research and treatment 2011) 3 41 54

Products for FANCC Gene

Sources for FANCC Gene