Seroatlas · Human Serome Atlas

FLCN

Folliculin

Also known as: BHD, DENND8B, FLCN_HUMAN, MGC17998, MGC23445

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

Protein identityUniProt · HPA

UniProt accession
Q8NFG4
Gene
FLCN
Ensembl
ENSG00000154803
Chromosome
17
Canonical length
579 aa
Protein class
Cancer-related genes, Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Vesicles,Plasma membrane,Cytosol

OverviewNCBI Gene

This gene is located within the Smith-Magenis syndrome region on chromosome 17. Mutations in this gene are associated with Birt-Hogg-Dube syndrome, which is characterized by fibrofolliculomas, renal tumors, lung cysts, and pneumothorax. Alternative splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

579 residues, UniProt reviewed canonical sequence.

>Q8NFG4|FLCN
     1  MNAIVALCHF CELHGPRTLF CTEVLHAPLP QGDGNEDSPG QGEQAEEEEG GIQMNSRMRA
    61  HSPAEGASVE SSSPGPKKSD MCEGCRSLAA GHPGYISHDK ETSIKYVSHQ HPSHPQLFSI
   121  VRQACVRSLS CEVCPGREGP IFFGDEQHGF VFSHTFFIKD SLARGFQRWY SIITIMMDRI
   181  YLINSWPFLL GKVRGIIDEL QGKALKVFEA EQFGCPQRAQ RMNTAFTPFL HQRNGNAARS
   241  LTSLTSDDNL WACLHTSFAW LLKACGSRLT EKLLEGAPTE DTLVQMEKLA DLEEESESWD
   301  NSEAEEEEKA PVLPESTEGR ELTQGPAESS SLSGCGSWQP RKLPVFKSLR HMRQVLGAPS
   361  FRMLAWHVLM GNQVIWKSRD VDLVQSAFEV LRTMLPVGCV RIIPYSSQYE EAYRCNFLGL
   421  SPHVQIPPHV LSSEFAVIVE VHAAARSTLH PVGCEDDQSL SKYEFVVTSG SPVAADRVGP
   481  TILNKIEAAL TNQNLSVDVV DQCLVCLKEE WMNKVKVLFK FTKVDSRPKE DTQKLLSILG
   541  ASEEDNVKLL KFWMTGLSKT YKSHLMSTVR SPTASESRN

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FLCN 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
Other membrane
Secreted
No
Transmembrane segments
0
Mean surface accessibility (rSASA)
0.37
Highest tissue expression
65 nTPM

Expression across tissuesHPA

Tissue

  • cerebellum: 65 nTPM
  • colon: 41 nTPM
  • skeletal muscle: 39 nTPM
  • cervix: 35 nTPM
  • ovary: 33 nTPM
  • urinary bladder: 32 nTPM

Single-cell type

  • late spermatids: 16 nCPM
  • cardiomyocytes: 5.1 nCPM
  • early spermatids: 4.4 nCPM
  • retinal horizontal cells: 4 nCPM
  • erythrocytes: 3.2 nCPM
  • cone photoreceptor cells: 2.1 nCPM

Immune cell

  • neutrophil: 5.9 nTPM
  • intermediate monocyte: 3.6 nTPM
  • memory B-cell: 3.6 nTPM
  • naive B-cell: 3.2 nTPM
  • T-reg: 2.9 nTPM
  • classical monocyte: 2.8 nTPM

Brain region

  • hippocampal formation: 75 nTPM
  • cerebral cortex: 74 nTPM
  • cerebellum: 66 nTPM
  • white matter: 65 nTPM
  • basal ganglia: 62 nTPM
  • pons: 54 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FLCN.

Disease | AllUniProt

Conditions FLCN is implicated in, by any mechanism.

Disease | GeneticClinVar

438 pathogenic / likely-pathogenic of 2,898 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)
0.39
gnomAD pLI
0.79
gnomAD missense Z
1.13
DepMap mean gene effect
-0.22
DepMap dependency class
selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

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

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

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