Seroatlas · Human Serome Atlas

FGFR3

Fibroblast growth factor receptor 3

Also known as: ACH, CD333, CEK2, FGFR3_HUMAN, JTK4

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

Protein identityUniProt · HPA

UniProt accession
P22607
Gene
FGFR3
Ensembl
ENSG00000068078
Chromosome
4
Canonical length
806 aa
Protein class
Cancer-related genes, CD markers, Disease related genes, Enzymes, FDA approved drug targets, Human disease related genes, Predicted intracellular proteins, Predicted membrane proteins, Predicted secreted proteins, RAS pathway related proteins
Subcellular location
Endoplasmic reticulum
Secretome location
Secreted - unknown location
Quaternary structure
Homodimer

OverviewNCBI Gene

This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]

Canonical amino-acid sequenceUniProt

806 residues, UniProt reviewed canonical sequence.

>P22607|FGFR3
     1  MGAPACALAL CVAVAIVAGA SSESLGTEQR VVGRAAEVPG PEPGQQEQLV FGSGDAVELS
    61  CPPPGGGPMG PTVWVKDGTG LVPSERVLVG PQRLQVLNAS HEDSGAYSCR QRLTQRVLCH
   121  FSVRVTDAPS SGDDEDGEDE AEDTGVDTGA PYWTRPERMD KKLLAVPAAN TVRFRCPAAG
   181  NPTPSISWLK NGREFRGEHR IGGIKLRHQQ WSLVMESVVP SDRGNYTCVV ENKFGSIRQT
   241  YTLDVLERSP HRPILQAGLP ANQTAVLGSD VEFHCKVYSD AQPHIQWLKH VEVNGSKVGP
   301  DGTPYVTVLK TAGANTTDKE LEVLSLHNVT FEDAGEYTCL AGNSIGFSHH SAWLVVLPAE
   361  EELVEADEAG SVYAGILSYG VGFFLFILVV AAVTLCRLRS PPKKGLGSPT VHKISRFPLK
   421  RQVSLESNAS MSSNTPLVRI ARLSSGEGPT LANVSELELP ADPKWELSRA RLTLGKPLGE
   481  GCFGQVVMAE AIGIDKDRAA KPVTVAVKML KDDATDKDLS DLVSEMEMMK MIGKHKNIIN
   541  LLGACTQGGP LYVLVEYAAK GNLREFLRAR RPPGLDYSFD TCKPPEEQLT FKDLVSCAYQ
   601  VARGMEYLAS QKCIHRDLAA RNVLVTEDNV MKIADFGLAR DVHNLDYYKK TTNGRLPVKW
   661  MAPEALFDRV YTHQSDVWSF GVLLWEIFTL GGSPYPGIPV EELFKLLKEG HRMDKPANCT
   721  HDLYMIMREC WHAAPSQRPT FKQLVEDLDR VLTVTSTDEY LDLSAPFEQY SPGGQDTPSS
   781  SSSGDDSVFA HDLLPPAPPS SGGSRT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FGFR3 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
Cell surface
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.39
Highest tissue expression
257 nTPM

Expression across tissuesHPA

Tissue

  • skin: 257 nTPM
  • basal ganglia: 149 nTPM
  • esophagus: 127 nTPM
  • amygdala: 119 nTPM
  • cerebral cortex: 106 nTPM
  • midbrain: 81 nTPM

Single-cell type

  • astrocytes: 528 nCPM
  • bergmann glia: 252 nCPM
  • ocular epithelial cells: 149 nCPM
  • esophageal suprabasal cells: 129 nCPM
  • proximal tubule cells: 124 nCPM
  • esophageal apical cells: 112 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

  • thalamus: 260 nTPM
  • medulla oblongata: 248 nTPM
  • basal ganglia: 237 nTPM
  • midbrain: 220 nTPM
  • amygdala: 192 nTPM
  • cerebellum: 186 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FGFR3.

Disease | AllUniProt

Conditions FGFR3 is implicated in, by any mechanism.

Disease | GeneticClinVar

61 pathogenic / likely-pathogenic of 1,224 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Hypochondroplasia
  • Thanatophoric dysplasia type 1
  • Achondroplasia
  • FGFR3-related disorder
  • 14 conditions

Disease | ImmuneIEDB

Conditions an epitope on FGFR3 was assayed in.

Disease | AutoantibodyPubMed

Conditions in which antibodies against FGFR3 are reported. Each links to that disease's full target list.

Showing 2 of 3 — disease pages carrying at least 10 antigens.

ReferencesPubMed · IEDB

Publications for FGFR3 from three distinct lines of evidence, kept separate because they answer different questions: whether antibodies are directed at the protein, whether a B-cell epitope has been mapped on it, and whether a T-cell epitope has. Each is labelled with its source.

Reference: AutoantibodyPubMed

22 publications

Show 17 more

Reference: B cellIEDB

1 publication

Reference: T cellIEDB

1 publication

Sources: PubMed — antigen-level antibody evidence from a custom retrieval. Records matching a controlled set of autoantibody terms (the MeSH descriptors Autoantibodies and Autoantigens, with title and abstract term variants) were obtained through NCBI E-utilities, and their titles and abstracts parsed for constructions that direct an antibody at a named protein rather than for co-occurrence. Captured names were resolved against UniProt nomenclature and each antigen adjudicated individually against the source text. IEDB — curated epitope assays from the Immune Epitope Database (Vita et al., Nucleic Acids Research 2019). Bibliographic records from PubMed and MeSH, U.S. National Library of Medicine; citation metrics from NIH iCite (Hutchins et al., PLoS Biology 2016). Titles link to PubMed; abstracts are not reproduced here. The NLM does not endorse this analysis.

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)
0.6
gnomAD pLI
0
gnomAD missense Z
1.26
DepMap mean gene effect
0.06
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 FGFR3 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 FGFR3 as an antibody target. Whether an autoantibody or antibody against FGFR3 could matter depends on whether native FGFR3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FGFR3 is annotated at the cell surface, where native FGFR3 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label FGFR3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/FGFR3. 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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