Seroatlas · Human Serome Atlas

FGF12

Fibroblast growth factor 12

Also known as: FGF12_HUMAN, FGF12B, FHF1

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

Protein identityUniProt · HPA

UniProt accession
P61328
Gene
FGF12
Ensembl
ENSG00000114279
Chromosome
3
Canonical length
243 aa
Protein class
Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location
Nucleoplasm,Cytosol

OverviewNCBI Gene

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth, and invasion. This growth factor lacks the N-terminal signal sequence present in most of the FGF family members, but it contains clusters of basic residues that have been demonstrated to act as a nuclear localization signal. When transfected into mammalian cells, this protein accumulated in the nucleus, but was not secreted. The specific function of this gene has not yet been determined. [provided by RefSeq, Dec 2019]

Canonical amino-acid sequenceUniProt

243 residues, UniProt reviewed canonical sequence.

>P61328|FGF12
     1  MAAAIASSLI RQKRQARESN SDRVSASKRR SSPSKDGRSL CERHVLGVFS KVRFCSGRKR
    61  PVRRRPEPQL KGIVTRLFSQ QGYFLQMHPD GTIDGTKDEN SDYTLFNLIP VGLRVVAIQG
   121  VKASLYVAMN GEGYLYSSDV FTPECKFKES VFENYYVIYS STLYRQQESG RAWFLGLNKE
   181  GQIMKGNRVK KTKPSSHFVP KPIEVCMYRE PSLHEIGEKQ GRSRKSSGTP TMNGGKVVNQ
   241  DST

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FGF12 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)
0.43
Highest tissue expression
125 nTPM

Expression across tissuesHPA

Tissue

  • heart muscle: 125 nTPM
  • adrenal gland: 31 nTPM
  • cerebral cortex: 29 nTPM
  • amygdala: 15 nTPM
  • retina: 14 nTPM
  • hypothalamus: 14 nTPM

Single-cell type

  • cardiomyocytes: 9,618 nCPM
  • oligodendrocyte progenitor cells: 1,978 nCPM
  • brain excitatory neurons: 1,307 nCPM
  • brain inhibitory neurons: 1,197 nCPM
  • other brain neurons: 1,064 nCPM
  • retinal ganglion cells: 993 nCPM

Immune cell

  • basophil: 0.3 nTPM
  • eosinophil: 0.1 nTPM
  • memory B-cell: 0.1 nTPM
  • neutrophil: 0.1 nTPM
  • classical monocyte: 0 nTPM
  • gdT-cell: 0 nTPM

Brain region

  • cerebral cortex: 105 nTPM
  • hypothalamus: 72 nTPM
  • basal ganglia: 68 nTPM
  • pons: 57 nTPM
  • white matter: 54 nTPM
  • thalamus: 51 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FGF12.

Disease | AllUniProt

Conditions FGF12 is implicated in, by any mechanism.

  • Developmental and epileptic encephalopathy 47 (DEE47) MIM:617166

Disease | GeneticClinVar

5 pathogenic / likely-pathogenic of 273 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Developmental and epileptic encephalopathy, 47
  • Early onset epileptic encephalopathy
  • Seizure
  • FGF12-related disorder

Disease | ImmuneIEDB

Conditions an epitope on FGF12 was assayed in.

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)
0.54
gnomAD pLI
0.62
gnomAD missense Z
1.52
DepMap mean gene effect
0.08
DepMap dependency class
none

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 FGF12 as an antibody target. Whether an autoantibody or antibody against FGF12 could matter depends on whether native FGF12 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FGF12 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 FGF12 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/FGF12. 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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