Seroatlas · Human Serome Atlas

FANCE

Fanconi anemia group E protein

Also known as: FACE, FAE, FANCE_HUMAN

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

Protein identityUniProt · HPA

UniProt accession
Q9HB96
Gene
FANCE
Ensembl
ENSG00000112039
Chromosome
6
Canonical length
536 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Mitotic chromosome,Centrosome

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 E. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

536 residues, UniProt reviewed canonical sequence.

>Q9HB96|FANCE
     1  MATPDAGLPG AEGVEPAPWA QLEAPARLLL QALQAGPEGA RRGLGVLRAL GSRGWEPFDW
    61  GRLLEALCRE EPVVQGPDGR LELKPLLLRL PRICQRNLMS LLMAVRPSLP ESGLLSVLQI
   121  AQQDLAPDPD AWLRALGELL RRDLGVGTSM EGASPLSERC QRQLQSLCRG LGLGGRRLKS
   181  PQAPDPEEEE NRDSQQPGKR RKDSEEEAAS PEGKRVPKRL RCWEEEEDHE KERPEHKSLE
   241  SLADGGSASP IKDQPVMAVK TGEDGSNLDD AKGLAESLEL PKAIQDQLPR LQQLLKTLEE
   301  GLEGLEDAPP VELQLLHECS PSQMDLLCAQ LQLPQLSDLG LLRLCTWLLA LSPDLSLSNA
   361  TVLTRSLFLG RILSLTSSAS RLLTTALTSF CAKYTYPVCS ALLDPVLQAP GTGPAQTELL
   421  CCLVKMESLE PDAQVLMLGQ ILELPWKEET FLVLQSLLER QVEMTPEKFS VLMEKLCKKG
   481  LAATTSMAYA KLMLTVMTKY QANITETQRL GLAMALEPNT TFLRKSLKAA LKHLGP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FANCE 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)
0.39
Highest tissue expression
13 nTPM

Expression across tissuesHPA

Tissue

  • skin: 13 nTPM
  • blood vessel: 11 nTPM
  • skeletal muscle: 11 nTPM
  • testis: 8.3 nTPM
  • esophagus: 8.2 nTPM
  • vagina: 7.4 nTPM

Single-cell type

  • extravillous trophoblasts: 153 nCPM
  • syncytiotrophoblasts: 62 nCPM
  • migrating cytotrophoblasts: 29 nCPM
  • cytotrophoblasts: 26 nCPM
  • epicardial cells: 18 nCPM
  • medullary thymic epithelial cells: 17 nCPM

Immune cell

  • MAIT T-cell: 0.2 nTPM
  • memory CD4 T-cell: 0.2 nTPM
  • memory CD8 T-cell: 0.2 nTPM
  • naive B-cell: 0.2 nTPM
  • eosinophil: 0.1 nTPM
  • gdT-cell: 0.1 nTPM

Brain region

  • thalamus: 0.8 nTPM
  • hypothalamus: 0.6 nTPM
  • amygdala: 0.5 nTPM
  • medulla oblongata: 0.5 nTPM
  • pons: 0.5 nTPM
  • white matter: 0.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FANCE.

Disease | AllUniProt

Conditions FANCE is implicated in, by any mechanism.

  • Fanconi anemia complementation group E (FANCE) MIM:600901

Disease | GeneticClinVar

77 pathogenic / likely-pathogenic of 842 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)
0.89
gnomAD pLI
0
gnomAD missense Z
0.13
DepMap mean gene effect
-0.15
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 6% 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 E protein, C-terminal
  • Fanconi anemia group E protein
  • Fanconi Anaemia group E protein FANCE

KeywordsUniProt

InteractionsUniProt · HPA

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

FANCE 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 FANCE as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/FANCE. 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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