Seroatlas · Human Serome Atlas

FANCC

Fanconi anemia group C protein

Also known as: FA3, FAC, FACC, FANCC_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q00597
Gene
FANCC
Ensembl
ENSG00000158169
Chromosome
9
Canonical length
558 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm

OverviewNCBI 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]

Canonical amino-acid sequenceUniProt

558 residues, UniProt reviewed canonical sequence.

>Q00597|FANCC
     1  MAQDSVDLSC DYQFWMQKLS VWDQASTLET QQDTCLHVAQ FQEFLRKMYE ALKEMDSNTV
    61  IERFPTIGQL LAKACWNPFI LAYDESQKIL IWCLCCLINK EPQNSGQSKL NSWIQGVLSH
   121  ILSALRFDKE VALFTQGLGY APIDYYPGLL KNMVLSLASE LRENHLNGFN TQRRMAPERV
   181  ASLSRVCVPL ITLTDVDPLV EALLICHGRE PQEILQPEFF EAVNEAILLK KISLPMSAVV
   241  CLWLRHLPSL EKAMLHLFEK LISSERNCLR RIECFIKDSS LPQAACHPAI FRVVDEMFRC
   301  ALLETDGALE IIATIQVFTQ CFVEALEKAS KQLRFALKTY FPYTSPSLAM VLLQDPQDIP
   361  RGHWLQTLKH ISELLREAVE DQTHGSCGGP FESWFLFIHF GGWAEMVAEQ LLMSAAEPPT
   421  ALLWLLAFYY GPRDGRQQRA QTMVQVKAVL GHLLAMSRSS SLSAQDLQTV AGQGTDTDLR
   481  APAQQLIRHL LLNFLLWAPG GHTIAWDVIT LMAHTAEITH EIIGFLDQTL YRWNRLGIES
   541  PRSEKLAREL LKELRTQV

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FANCC can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.26
Highest tissue expression
23 nTPM

Expression across tissuesHPA

Tissue

  • liver: 23 nTPM
  • cerebellum: 11 nTPM
  • testis: 9.1 nTPM
  • kidney: 6.2 nTPM
  • small intestine: 5.8 nTPM
  • duodenum: 5 nTPM

Single-cell type

  • cardiomyocytes: 495 nCPM
  • myonuclei: 299 nCPM
  • proximal tubule cells: 296 nCPM
  • early spermatids: 289 nCPM
  • epicardial cells: 230 nCPM
  • somatotrophs: 203 nCPM

Immune cell

  • basophil: 11 nTPM
  • non-classical monocyte: 1.4 nTPM
  • plasmacytoid DC: 1.3 nTPM
  • T-reg: 1.3 nTPM
  • memory CD8 T-cell: 1.1 nTPM
  • gdT-cell: 1 nTPM

Brain region

  • cerebellum: 20 nTPM
  • medulla oblongata: 11 nTPM
  • pons: 10 nTPM
  • white matter: 10 nTPM
  • hypothalamus: 9.3 nTPM
  • thalamus: 9 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FANCC.

Disease | AllUniProt

Conditions FANCC is implicated in, by any mechanism.

  • Fanconi anemia complementation group C (FANCC) MIM:227645

Disease | GeneticClinVar

303 pathogenic / likely-pathogenic of 2,290 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.04
gnomAD pLI
0
gnomAD missense Z
-0.19
DepMap mean gene effect
-0.13
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Fanconi anaemia group C protein
  • Fanconi anaemia group C protein

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of FANCC in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FANCC as an antibody target. Whether an autoantibody or antibody against FANCC could matter depends on whether native FANCC is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FANCC is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label FANCC as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/FANCC. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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