Free for academic non-profit institutions. Other users need a Commercial license
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
External Ids for FANCC Gene
- HGNC: 3584
- Entrez Gene: 2176
- Ensembl: ENSG00000158169
- OMIM: 613899
- UniProtKB: Q00597
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
-
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 (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 BRCA1 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.
Additional gene information for FANCC Gene
- HGNC(3584)
- Entrez Gene(2176)
- Ensembl(ENSG00000158169)
- OMIM(613899)
- UniProtKB(Q00597)
- Open Targets Platform(ENSG00000158169)
- Monarch Initiative
- Search for FANCC at DataMed
- Search for FANCC at HumanCyc
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 Pubs
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 the GeneHancer Hub at the UCSC Golden Path
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:
-
- 9q22.32 by HGNC
- 9q22.32 by Entrez Gene
- 9q22.32 by Ensembl
FANCC Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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.
Protein Expression for FANCC Gene
Post-translational modifications for FANCC Gene
Other Protein References for FANCC Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- LifeSpan BioSciences FANCC Antibody (LS-B367) and FANCC Antibody (LS-B4086)
- G Biosciences Immunotag™ FANCC Antibody
- GeneTex Anti-FANCC antibody [N1C1]
-
Custom Antibody ServicesOriGene Antibodies for FANCC
- Novus Biologicals Antibodies for FANCC
-
Abcam antibodies for FANCC
- Invitrogen Antibodies for FANCC (AFLGC-FANCC)
-
Boster Bio Antibodies for FANCC
-
Santa Cruz Biotechnology (SCBT) Antibodies for FANCC
- Sino Biological Antibodies for FANCC
Protein Products
-
OriGene Purified Proteins for FANCC
- Search Origene for MassSpec and Protein Over-expression Lysates for FANCC
- Origene Custom Protein Services for FANCC
- antibodies-online: Show 6 available FANCC Proteins ranked by validation data
- Compare Top FANCC Proteins
-
Quality Products:
-
Signalway Proteins for FANCC
-
Abcam proteins for FANCC
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
Suggested Antigen Peptide Sequences for FANCC Gene
- GenScript: Design optimal peptide antigens:
-
- Fanconi anemia group C protein (FANCC_HUMAN)
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 9596688 |
Phenotypes for FANCC Gene
- MGI mutant phenotypes for FANCC:
- inferred from 2 alleles
- GenomeRNAi human phenotypes for FANCC:
-
- Decreased hepcidin::fluc mRNA expression
- no effect
- Decreased viability
- Decreased Sindbis virus (SIN) capsid and autophagosome LC3 protein colocalization
- Decreased mitophagy mCherry-Parkin protein expression after carbonyl cyanide m-chlorphenylhydrazone (CCCP) stimulation
- Synthetic lethal with MLN4924 (a NAE inhibitor)
- Increased viability with MLN4924 (a NAE inhibitor)
- Synthetic lethal with Ras
- Increased gamma-H2AX phosphorylation
- Increased S DNA content
- Cell division defect
- Increased number of mitotic cells
- Increased mitotic delay (prometaphase or metaphase alignment problems, MAP), polylobed nuclei, dynamic nuclei (hole, folded or small irregular), decreased viability (cell death)
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FANCC - Select products 50% OFF >
- * FANCC CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FANCC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FANCC
-
Santa Cruz Biotechnology (SCBT) CRISPR for FANCC
miRNA for FANCC Gene
- miRTarBase miRNAs that target FANCC
-
- hsa-miR-26b-5p (MIRT029075)
- hsa-miR-15b-5p (MIRT046532)
- hsa-miR-8085 (MIRT531230)
- hsa-miR-6731-5p (MIRT531231)
- hsa-miR-5192 (MIRT531232)
- hsa-miR-6754-5p (MIRT531233)
- hsa-miR-4441 (MIRT531234)
- hsa-miR-4270 (MIRT531235)
- hsa-miR-211-3p (MIRT531236)
- hsa-miR-3613-3p (MIRT531237)
- hsa-miR-6760-5p (MIRT531238)
- hsa-miR-7844-5p (MIRT531239)
- hsa-miR-5007-5p (MIRT531240)
- hsa-miR-548x-3p (MIRT531241)
- hsa-miR-548j-3p (MIRT531242)
- hsa-miR-548aq-3p (MIRT531243)
- hsa-miR-548am-3p (MIRT531244)
- hsa-miR-548aj-3p (MIRT531245)
- hsa-miR-548ah-3p (MIRT531246)
- hsa-miR-548ae-3p (MIRT531247)
- hsa-miR-587 (MIRT648755)
- hsa-miR-302c-5p (MIRT648756)
- hsa-miR-873-5p (MIRT648757)
- hsa-miR-5698 (MIRT706953)
- hsa-miR-744-3p (MIRT706954)
- hsa-miR-6848-3p (MIRT706955)
- hsa-miR-6843-3p (MIRT706956)
- hsa-miR-4423-5p (MIRT706957)
- hsa-miR-6501-5p (MIRT706958)
- hsa-miR-143-5p (MIRT706959)
- hsa-miR-4430 (MIRT706960)
- hsa-miR-3652 (MIRT706961)
- hsa-miR-122-5p (MIRT706962)
- hsa-miR-504-3p (MIRT706963)
- hsa-miR-3135b (MIRT706964)
- hsa-miR-6499-3p (MIRT706965)
- hsa-miR-1273f (MIRT706966)
- hsa-miR-367-5p (MIRT706967)
- hsa-miR-1267 (MIRT706968)
- hsa-miR-6812-3p (MIRT706969)
- hsa-miR-6733-3p (MIRT706970)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FANCC
- Browse OriGene Inhibitory RNA Products For FANCC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FANCC
Clone Products
- Applied Biological Materials (abm): Clones for FANCC - Select products 50% OFF >
- * FANCC as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG206858
- MG222598
- MR206858
- MR206858L3
- MR206858L4
- MR222598
- MR222598L3
- MR222598L4
- MR230026
- MR230509
- RC204871
- RC204871L1
- RC204871L2
- RC204871L3
- RC204871L4
- RC232848
- RC234428
- RG204871
- RG232848
- RG234428
- RR208174
- RR208174L3
- RR208174L4
- MR206858L3V
- MR206858L4V
- MR222598L3V
- MR222598L4V
- RC204871L1V
- RC204871L2V
- RC204871L3V
- RC204871L4V
- RR208174L3V
- RR208174L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FANCC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FANCC
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.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| cytosol | 5 |
| cytoskeleton | 2 |
| mitochondrion | 2 |
| peroxisome | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| lysosome | 1 |
- Nucleoplasm (3)
| 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 | IEA,IDA | 20347428 |
Pathways & Interactions for FANCC Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Fanconi anemia pathway | ||
| 2 | BRCA1 Pathway |
Fanconi's Anaemia Pathway
.01
|
BRCA1 Pathway
-
|
| 3 | Gene Expression |
.48
|
|
| 4 | Chks in Checkpoint Regulation |
DNA Repair Mechanisms
.31
|
|
| 5 | DNA Double-Strand Break Repair |
.53
|
|
Pathways by source for FANCC Gene
1 BioSystems pathway for FANCC Gene
6 Reactome pathways for FANCC Gene
1 KEGG pathway 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
Interacting Proteins for FANCC Gene
Selected Interacting proteins:
Q00597-FANCC_HUMAN
ENSP00000289081
for FANCC Gene via
UniProtKB
MINT
STRING
IID
GPS-Prot Interaction Network for FANCC
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002262 | myeloid cell homeostasis | IEA | -- |
| GO:0006281 | DNA repair | IEA,TAS | 1574115 |
| GO:0006289 | nucleotide-excision repair | IBA | 21873635 |
| GO:0006974 | cellular response to DNA damage stimulus | IEA | -- |
| GO:0007276 | gamete generation | IEA | -- |
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 :
-
- ENST00000289081 4592 nts (view in UCSC)
- ENST00000375305 4533 nts (view in UCSC)
- ENST00000433644 1404 nts (view in UCSC)
- ENST00000433829 591 nts (view in UCSC)
- ENST00000464627 825 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FANCC - Select products 50% OFF >
- * FANCC CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FANCC
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FANCC
-
Santa Cruz Biotechnology (SCBT) CRISPR for FANCC
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FANCC
- Browse OriGene Inhibitory RNA Products For FANCC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FANCC
Clone Products
- Applied Biological Materials (abm): Clones for FANCC - Select products 50% OFF >
- * FANCC as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
- MG206858
- MG222598
- MR206858
- MR206858L3
- MR206858L4
- MR222598
- MR222598L3
- MR222598L4
- MR230026
- MR230509
- RC204871
- RC204871L1
- RC204871L2
- RC204871L3
- RC204871L4
- RC232848
- RC234428
- RG204871
- RG232848
- RG234428
- RR208174
- RR208174L3
- RR208174L4
- MR206858L3V
- MR206858L4V
- MR222598L3V
- MR222598L4V
- RC204871L1V
- RC204871L2V
- RC204871L3V
- RC204871L4V
- RR208174L3V
- RR208174L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Sino Biological Human cDNA Clone for FANCC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FANCC
Relevant External Links for FANCC Gene
- GeneLoc Exon Structure for
- FANCC
Expression for FANCC Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Skeletal Muscle (Muscoskeletal System)
mRNA differential expression in normal tissues according to GTEx for FANCC Gene
This gene is overexpressed in Liver (x5.1).
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
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FANCC
SOURCE GeneReport for Unigene cluster for FANCC Gene:
Hs.494529mRNA Expression by UniProt/SwissProt for FANCC Gene:
Q00597-FANCC_HUMAN
Tissue specificity:
Ubiquitous.
Evidence on tissue expression from TISSUES for FANCC Gene
- Intestine(4.4)
- Bone marrow(2.4)
- Nervous system(2.3)
- Kidney(2.3)
- Skin(2.2)
- Blood(2.2)
- Liver(2)
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
Primer Products
-
OriGene qPCR primer pairs for FANCC
-
OriGene qPCR primer pairs and template standards for FANCC
Gene Expression Assay Products
Orthologs for FANCC Gene
This gene was present in the common ancestor of chordates.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FANCC 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | FANCC 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | FANCC 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Fancc 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Fancc 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | FANCC 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | FANCC 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | FANCC 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fancc 30 |
|
||
| Zebrafish (Danio rerio) |
Actinopterygii | fancc 30 31 |
|
OneToOne |
- Species where no ortholog for FANCC was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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 Vase (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: Hereditary cancer-predisposing syndrome; 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 |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FANCC Gene
Disorders for FANCC Gene
(28) MalaCards diseases for FANCC Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| fanconi anemia, complementation group c |
|
|
| fanconi anemia, complementation group a |
|
|
| tracheoesophageal fistula with or without esophageal atresia |
|
|
| inherited cancer-predisposing syndrome |
|
|
| fanconi anemia, complementation group b |
|
|
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
- Open Targets Platform
Publications for FANCC Gene
- 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
- 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
- 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
- Regulation of Rev1 by the Fanconi anemia core complex. (PMID: 22266823) Kim H … D'Andrea AD (Nature structural & molecular biology 2012) 3 4
- 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
ExternalLinks
Products for FANCC Gene
- Custom Antibody ServicesOriGene Antibodies for FANCC
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for FANCC
- Search Origene for MassSpec and Protein Over-expression Lysates for FANCC
- Origene Custom Protein Services for FANCC
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FANCC
- Browse OriGene Inhibitory RNA Products For FANCC
- OriGene qPCR primer pairs for FANCC
- OriGene qPCR primer pairs and template standards for FANCC
- OriGene CRISPR knockouts for FANCC
- MG206858
- MG222598
- MR206858
- MR206858L3
- MR206858L4
- MR222598
- MR222598L3
- MR222598L4
- MR230026
- MR230509
- RC204871
- RC204871L1
- RC204871L2
- RC204871L3
- RC204871L4
- RC232848
- RC234428
- RG204871
- RG232848
- RG234428
- RR208174
- RR208174L3
- RR208174L4
- MR206858L3V
- MR206858L4V
- MR222598L3V
- MR222598L4V
- RC204871L1V
- RC204871L2V
- RC204871L3V
- RC204871L4V
- RR208174L3V
- RR208174L4V
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For FANCC
- Sino Biological Human cDNA Clone for FANCC
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for FANCC
- Browse Sino Biological Assays
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for FANCC
- Novus Biologicals proteins and lysates for FANCC
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for FANCC
- Abcam proteins for FANCC
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Invitrogen Antibodies for FANCC (AFLGC-FANCC)
- VectorBuilder Custom and pre-made DNA vectors for FANCC (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for FANCC (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for FANCC (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for FANCC CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for FANCC
- antibodies-online: Show 27 available FANCC Antibodies ranked by validation data
- Compare Top FANCC Antibodies
- Quality Products:
- antibodies-online: Search results for available FANCC related products ranked by validation data
- antibodies-online: Show 6 available FANCC Proteins ranked by validation data
- Compare Top FANCC Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for FANCC
- Search Santa Cruz Biotechnology (SCBT) for FANCC siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for FANCC
- Horizon Cell Lines for FANCC
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FANCC
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FANCC
- Search GeneCopoeia for miRNA 3'UTR Target clone products for FANCC
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FANCC
- Boster Bio Antibodies for FANCC
- Browse Boster Bio ELISA Kits
- Signalway Proteins for FANCC
Sources for FANCC Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB