Human Gene FANCC (ENST00000289081.8_9) from GENCODE V47lift37
  Description: FA complementation group C, transcript variant 1 (from RefSeq NM_000136.3)
Gencode Transcript: ENST00000289081.8_9
Gencode Gene: ENSG00000158169.14_15
Transcript (Including UTRs)
   Position: hg19 chr9:97,861,336-98,079,991 Size: 218,656 Total Exon Count: 15 Strand: -
Coding Region
   Position: hg19 chr9:97,863,989-98,011,573 Size: 147,585 Coding Exon Count: 14 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesGeneReviewsModel Information
Methods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr9:97,861,336-98,079,991)mRNA (may differ from genome)Protein (558 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: FANCC_HUMAN
DESCRIPTION: RecName: Full=Fanconi anemia group C protein; Short=Protein FACC;
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.
SUBUNIT: 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.
INTERACTION: Q9HB96:FANCE; NbExp=3; IntAct=EBI-81625, EBI-396803;
SUBCELLULAR LOCATION: Nucleus. Cytoplasm. Note=The major form is nuclear. The minor form is cytoplasmic.
TISSUE SPECIFICITY: Ubiquitous.
DEVELOPMENTAL STAGE: Expression increases during S phase, is maximal at the G2/M transition, and declines during M phase (at protein level).
DISEASE: Defects in FANCC are the cause of 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.
WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/FACC101.html";
WEB RESOURCE: Name=Fanconi Anemia Mutation Database; URL="http://www.rockefeller.edu/fanconi/mutate/jumpc.html";
WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/FANCC";
WEB RESOURCE: Name=NIEHS-SNPs; URL="http://egp.gs.washington.edu/data/fancc/";

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: FANCC
Diseases sorted by gene-association score: fanconi anemia, complementation group c* (1264), fanconi anemia, complementation group a* (560), fancc-related fanconi anemia* (100), fanconi anemia, complementation group f (13), fanconi anemia, complementation group b (13), multiple self-healing squamous epithelioma (11), congenital hypoplastic anemia (9), pancytopenia (8), fanconi anemia, complementation group e (7), basal cell nevus syndrome (4), deficiency anemia (2)
* = Manually curated disease association

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 8.31 RPKM in Testis
Total median expression: 94.30 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -84.40262-0.322 Picture PostScript Text
3' UTR -995.102653-0.375 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR000686 - Fanconi

Pfam Domains:
PF02106 - Fanconi anaemia group C protein

SCOP Domains:
48371 - ARM repeat

ModBase Predicted Comparative 3D Structure on Q00597
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGD    
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding

Biological Process:
GO:0002262 myeloid cell homeostasis
GO:0006281 DNA repair
GO:0006289 nucleotide-excision repair
GO:0006974 cellular response to DNA damage stimulus
GO:0007276 gamete generation
GO:0007281 germ cell development
GO:0019430 removal of superoxide radicals
GO:0034599 cellular response to oxidative stress
GO:0036297 interstrand cross-link repair
GO:0048854 brain morphogenesis
GO:0065003 macromolecular complex assembly
GO:0097150 neuronal stem cell population maintenance

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0043240 Fanconi anaemia nuclear complex


-  Descriptions from all associated GenBank mRNAs
  BC015748 - Homo sapiens Fanconi anemia, complementation group C, mRNA (cDNA clone MGC:23056 IMAGE:4864916), complete cds.
X66894 - H.sapiens FACC mRNA from complementation group C (FA(C)).
X66893 - H.sapiens FACC mRNA from complementation group C (FA(C)).
DQ895422 - Synthetic construct Homo sapiens clone IMAGE:100009882; FLH184255.01L; RZPDo839D11143D Fanconi anemia, complementation group C (FANCC) gene, encodes complete protein.
EU176333 - Synthetic construct Homo sapiens clone IMAGE:100006443; FLH184262.01X; RZPDo839H07251D Fanconi anemia, complementation group C (FANCC) gene, encodes complete protein.
AK312548 - Homo sapiens cDNA, FLJ92919.
KJ891143 - Synthetic construct Homo sapiens clone ccsbBroadEn_00537 FANCC gene, encodes complete protein.
KR710546 - Synthetic construct Homo sapiens clone CCSBHm_00013987 FANCC (FANCC) mRNA, encodes complete protein.
KR710547 - Synthetic construct Homo sapiens clone CCSBHm_00013989 FANCC (FANCC) mRNA, encodes complete protein.
KR710548 - Synthetic construct Homo sapiens clone CCSBHm_00013991 FANCC (FANCC) mRNA, encodes complete protein.
AB529187 - Synthetic construct DNA, clone: pF1KB9979, Homo sapiens FANCC gene for Fanconi anemia, complementation group C, without stop codon, in Flexi system.
KU178051 - Homo sapiens Fanconi anemia complementation group C isoform 1 (FANCC) mRNA, partial cds.
KU178052 - Homo sapiens Fanconi anemia complementation group C isoform 2 (FANCC) mRNA, complete cds, alternatively spliced.
AK222871 - Homo sapiens mRNA, Fanconi anemia, complementation group C variant, clone: HEP17626.
AK310599 - Homo sapiens cDNA, FLJ17641.
AK304887 - Homo sapiens cDNA FLJ61092 complete cds, highly similar to Fanconi anemia group C protein.
CQ903799 - Sequence 1 from Patent WO2004094661.
JD221271 - Sequence 202295 from Patent EP1572962.
JD333894 - Sequence 314918 from Patent EP1572962.
JD424880 - Sequence 405904 from Patent EP1572962.
JD449743 - Sequence 430767 from Patent EP1572962.
JD404768 - Sequence 385792 from Patent EP1572962.
JD128501 - Sequence 109525 from Patent EP1572962.
JD458253 - Sequence 439277 from Patent EP1572962.
JD187218 - Sequence 168242 from Patent EP1572962.
JD451129 - Sequence 432153 from Patent EP1572962.
JD265020 - Sequence 246044 from Patent EP1572962.
DQ593364 - Homo sapiens piRNA piR-33476, complete sequence.
JD360938 - Sequence 341962 from Patent EP1572962.
JD428960 - Sequence 409984 from Patent EP1572962.
JD390672 - Sequence 371696 from Patent EP1572962.
JD115910 - Sequence 96934 from Patent EP1572962.
JD426303 - Sequence 407327 from Patent EP1572962.
JD538380 - Sequence 519404 from Patent EP1572962.
JD230896 - Sequence 211920 from Patent EP1572962.
JD222243 - Sequence 203267 from Patent EP1572962.
JD057960 - Sequence 38984 from Patent EP1572962.
JD247154 - Sequence 228178 from Patent EP1572962.
JD241796 - Sequence 222820 from Patent EP1572962.
JD354229 - Sequence 335253 from Patent EP1572962.
JD119462 - Sequence 100486 from Patent EP1572962.
JD541587 - Sequence 522611 from Patent EP1572962.
JD221092 - Sequence 202116 from Patent EP1572962.
JD051607 - Sequence 32631 from Patent EP1572962.
JD540939 - Sequence 521963 from Patent EP1572962.
JD467209 - Sequence 448233 from Patent EP1572962.
JD302317 - Sequence 283341 from Patent EP1572962.
JD036632 - Sequence 17656 from Patent EP1572962.
JD433676 - Sequence 414700 from Patent EP1572962.
JD201039 - Sequence 182063 from Patent EP1572962.
JD040528 - Sequence 21552 from Patent EP1572962.
JD295052 - Sequence 276076 from Patent EP1572962.
JD290590 - Sequence 271614 from Patent EP1572962.
JD164851 - Sequence 145875 from Patent EP1572962.
JD236187 - Sequence 217211 from Patent EP1572962.
JD401949 - Sequence 382973 from Patent EP1572962.
JD331983 - Sequence 313007 from Patent EP1572962.
JD175705 - Sequence 156729 from Patent EP1572962.
JD138204 - Sequence 119228 from Patent EP1572962.
JD532391 - Sequence 513415 from Patent EP1572962.
JD181517 - Sequence 162541 from Patent EP1572962.
JD055304 - Sequence 36328 from Patent EP1572962.
JD169806 - Sequence 150830 from Patent EP1572962.
JD529500 - Sequence 510524 from Patent EP1572962.
JD430365 - Sequence 411389 from Patent EP1572962.
JD395516 - Sequence 376540 from Patent EP1572962.
JD125807 - Sequence 106831 from Patent EP1572962.
JD353369 - Sequence 334393 from Patent EP1572962.
JD169805 - Sequence 150829 from Patent EP1572962.
JD065940 - Sequence 46964 from Patent EP1572962.
JD199542 - Sequence 180566 from Patent EP1572962.
JD357468 - Sequence 338492 from Patent EP1572962.
JD490845 - Sequence 471869 from Patent EP1572962.
JD086632 - Sequence 67656 from Patent EP1572962.
JD353894 - Sequence 334918 from Patent EP1572962.
JD377908 - Sequence 358932 from Patent EP1572962.
JD275486 - Sequence 256510 from Patent EP1572962.
JD275485 - Sequence 256509 from Patent EP1572962.
JD351930 - Sequence 332954 from Patent EP1572962.
JD229342 - Sequence 210366 from Patent EP1572962.
JD359948 - Sequence 340972 from Patent EP1572962.
JD411912 - Sequence 392936 from Patent EP1572962.
JD542390 - Sequence 523414 from Patent EP1572962.
JD378643 - Sequence 359667 from Patent EP1572962.
JD162920 - Sequence 143944 from Patent EP1572962.
JD326410 - Sequence 307434 from Patent EP1572962.
JD485445 - Sequence 466469 from Patent EP1572962.
JD481234 - Sequence 462258 from Patent EP1572962.
JD512853 - Sequence 493877 from Patent EP1572962.
JD512854 - Sequence 493878 from Patent EP1572962.
JD412867 - Sequence 393891 from Patent EP1572962.
JD197851 - Sequence 178875 from Patent EP1572962.
JD212462 - Sequence 193486 from Patent EP1572962.
JD542592 - Sequence 523616 from Patent EP1572962.
JD542590 - Sequence 523614 from Patent EP1572962.
JD512852 - Sequence 493876 from Patent EP1572962.
JD512849 - Sequence 493873 from Patent EP1572962.
JD412866 - Sequence 393890 from Patent EP1572962.
JD140098 - Sequence 121122 from Patent EP1572962.
JD283355 - Sequence 264379 from Patent EP1572962.
JD536173 - Sequence 517197 from Patent EP1572962.
JD512848 - Sequence 493872 from Patent EP1572962.
JD042933 - Sequence 23957 from Patent EP1572962.
JD037868 - Sequence 18892 from Patent EP1572962.
JD134411 - Sequence 115435 from Patent EP1572962.
JD172353 - Sequence 153377 from Patent EP1572962.
DQ590881 - Homo sapiens piRNA piR-57993, complete sequence.
JD133825 - Sequence 114849 from Patent EP1572962.
JD519757 - Sequence 500781 from Patent EP1572962.
JD342600 - Sequence 323624 from Patent EP1572962.
JD358620 - Sequence 339644 from Patent EP1572962.
JD360275 - Sequence 341299 from Patent EP1572962.
JD442696 - Sequence 423720 from Patent EP1572962.
JD063279 - Sequence 44303 from Patent EP1572962.
JD152005 - Sequence 133029 from Patent EP1572962.
JD533468 - Sequence 514492 from Patent EP1572962.
DQ584490 - Homo sapiens piRNA piR-51602, complete sequence.
CU677421 - Synthetic construct Homo sapiens gateway clone IMAGE:100019869 5' read FANCC mRNA.
S64600 - FACC=Fanconi anemia complementation group C {alternatively spliced, small exon deletion} [human, GM 449 fibroblasts, GM 4510 lymphoblasts, mRNA Partial Mutant, 88 nt].
JD299924 - Sequence 280948 from Patent EP1572962.
JD470189 - Sequence 451213 from Patent EP1572962.
JD060054 - Sequence 41078 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_atrbrcaPathway - Role of BRCA1, BRCA2 and ATR in Cancer Susceptibility
h_bard1Pathway - BRCA1-dependent Ub-ligase activity

Reactome (by CSHL, EBI, and GO)

Protein Q00597 (Reactome details) participates in the following event(s):

R-HSA-6785126 FA core complex assembles at DNA interstrand crosslinks (ICLs)
R-HSA-6786155 POLN binds ICL-DNA
R-HSA-6785342 FANCD2:FANCI complex and UBE2T bind ICL-DNA associated with the FA core complex
R-HSA-6786171 FANCD2 deubiquitination by USP1:WDR48
R-HSA-6788385 The complex of ATR and ATRIP is recruited to ICL-DNA
R-HSA-6785732 DNA nucleases bind monoubiquitinated ID2 complex
R-HSA-6785361 Monoubiquitination of FANCD2:FANCI
R-HSA-6788392 ATR phosphorylates RPA2, FANCI, FANCD2 and FANCM at ICL-DNA
R-HSA-6783310 Fanconi Anemia Pathway
R-HSA-6796648 TP53 Regulates Transcription of DNA Repair Genes
R-HSA-73894 DNA Repair
R-HSA-3700989 Transcriptional Regulation by TP53
R-HSA-212436 Generic Transcription Pathway
R-HSA-73857 RNA Polymerase II Transcription
R-HSA-74160 Gene expression (Transcription)

-  Other Names for This Gene
  Alternate Gene Symbols: B1ALR8, ENST00000289081.1, ENST00000289081.2, ENST00000289081.3, ENST00000289081.4, ENST00000289081.5, ENST00000289081.6, ENST00000289081.7, FAC, FACC, FANCC_HUMAN, NM_000136, Q00597, uc317kre.1, uc317kre.2
UCSC ID: ENST00000289081.8_9
RefSeq Accession: NM_000136.3
Protein: Q00597 (aka FANCC_HUMAN or FACC_HUMAN)

-  GeneReviews for This Gene
  GeneReviews article(s) related to gene FANCC:
fa (Fanconi Anemia)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.