Seroatlas · Human Serome Atlas

FGF14

Fibroblast growth factor 14

Also known as: FGF14_HUMAN, FHF4, SCA27

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

Protein identityUniProt · HPA

UniProt accession: Q92915
Gene: FGF14
Ensembl: ENSG00000102466
Chromosome: 13
Canonical length: 247 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Nucleoli fibrillar center

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. A mutation in this gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

247 residues, UniProt reviewed canonical sequence.

>Q92915|FGF14
     1  MAAAIASGLI RQKRQAREQH WDRPSASRRR SSPSKNRGLC NGNLVDIFSK VRIFGLKKRR
    61  LRRQDPQLKG IVTRLYCRQG YYLQMHPDGA LDGTKDDSTN STLFNLIPVG LRVVAIQGVK
   121  TGLYIAMNGE GYLYPSELFT PECKFKESVF ENYYVIYSSM LYRQQESGRA WFLGLNKEGQ
   181  AMKGNRVKKT KPAAHFLPKP LEVAMYREPS LHDVGETVPK PGVTPSKSTS ASAIMNGGKP
   241  VNKSKTT

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FGF14 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: 9.6 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 9.6 nTPM
cerebral cortex: 5.9 nTPM
cervix: 5.5 nTPM
hypothalamus: 4.1 nTPM
basal ganglia: 3.6 nTPM
fallopian tube: 3.6 nTPM

Single-cell type

bergmann glia: 4,868 nCPM
brain inhibitory neurons: 2,908 nCPM
brain excitatory neurons: 2,868 nCPM
oligodendrocyte progenitor cells: 2,828 nCPM
adrenal medulla cells: 1,489 nCPM
other brain neurons: 1,402 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: 65 nTPM
cerebral cortex: 43 nTPM
hypothalamus: 37 nTPM
basal ganglia: 27 nTPM
white matter: 24 nTPM
amygdala: 21 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FGF14.

Disease | AllUniProt

Conditions FGF14 is implicated in, by any mechanism.

Spinocerebellar ataxia 27A (SCA27A) MIM:193003
Spinocerebellar ataxia 27B, late-onset (SCA27B) MIM:620174

Disease | GeneticClinVar

18 pathogenic / likely-pathogenic of 200 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Spinocerebellar ataxia 27A
Spinocerebellar ataxia type 27
FGF14-related disorder
Spinocerebellar ataxia 27B, late-onset
Cerebellar ataxia

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: 0.91
gnomAD missense Z: 1.76
DepMap mean gene effect: 0.12
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 3% 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 FGF14 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

SCN8A

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FGF14 as an antibody target. Whether an autoantibody or antibody against FGF14 could matter depends on whether native FGF14 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FGF14 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 FGF14 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Loading the interactive Seroatlas protein explorer...