Seroatlas · Human Serome Atlas

FSCN2

Fascin-2

Also known as: FSCN2_HUMAN, RFSN, RP30

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

Protein identityUniProt · HPA

UniProt accession
O14926
Gene
FSCN2
Ensembl
ENSG00000186765
Chromosome
17
Canonical length
492 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins

OverviewNCBI Gene

This gene encodes a member of the fascin protein family. Fascins crosslink actin into filamentous bundles within dynamic cell extensions. This family member is proposed to play a role in photoreceptor disk morphogenesis. A mutation in this gene results in one form of autosomal dominant retinitis pigmentosa and macular degeneration. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

492 residues, UniProt reviewed canonical sequence.

>O14926|FSCN2
     1  MPTNGLHQVL KIQFGLVNDT DRYLTAESFG FKVNASAPSL KRKQTWVLEP DPGQGTAVLL
    61  RSSHLGRYLS AEEDGRVACE AEQPGRDCRF LVLPQPDGRW VLRSEPHGRF FGGTEDQLSC
   121  FATAVSPAEL WTVHLAIHPQ AHLLSVSRRR YVHLCPREDE MAADGDKPWG VDALLTLIFR
   181  SRRYCLKSCD SRYLRSDGRL VWEPEPRACY TLEFKAGKLA FKDCDGHYLA PVGPAGTLKA
   241  GRNTRPGKDE LFDLEESHPQ VVLVAANHRY VSVRQGVNVS ANQDDELDHE TFLMQIDQET
   301  KKCTFYSSTG GYWTLVTHGG IHATATQVSA NTMFEMEWRG RRVALKASNG RYVCMKKNGQ
   361  LAAISDFVGK DEEFTLKLIN RPILVLRGLD GFVCHHRGSN QLDTNRSVYD VFHLSFSDGA
   421  YRIRGRDGGF WYTGSHGSVC SDGERAEDFV FEFRERGRLA IRARSGKYLR GGASGLLRAD
   481  ADAPAGTALW EY

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FSCN2 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)
0.22
Highest tissue expression
8.1 nTPM

Expression across tissuesHPA

Tissue

  • retina: 8.1 nTPM
  • pancreas: 4.4 nTPM
  • thyroid gland: 3.9 nTPM
  • parathyroid gland: 1.9 nTPM
  • salivary gland: 1.7 nTPM
  • kidney: 1.2 nTPM

Single-cell type

  • pancreatic acinar cells: 30 nCPM
  • rod photoreceptor cells: 21 nCPM
  • cone photoreceptor cells: 19 nCPM
  • epicardial cells: 6.8 nCPM
  • late spermatids: 4.3 nCPM
  • medullary thymic epithelial cells: 2.4 nCPM

Immune cell

  • basophil: 0 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM
  • MAIT T-cell: 0 nTPM

Brain region

  • cerebellum: 4.1 nTPM
  • medulla oblongata: 3.4 nTPM
  • spinal cord: 2.8 nTPM
  • cerebral cortex: 2.7 nTPM
  • white matter: 2.7 nTPM
  • basal ganglia: 2.4 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FSCN2.

Disease | AllUniProt

Conditions FSCN2 is implicated in, by any mechanism.

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 735 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)
1.48
gnomAD pLI
0
gnomAD missense Z
-0.11
DepMap mean gene effect
-0.1
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

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FSCN2 as an antibody target. Whether an autoantibody or antibody against FSCN2 could matter depends on whether native FSCN2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FSCN2 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 FSCN2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/FSCN2. 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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