Seroatlas · Human Serome Atlas

FKBP14

Peptidyl-prolyl cis-trans isomerase FKBP14

Also known as: FKB14_HUMAN, FKBP22, FLJ20731

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

Protein identityUniProt · HPA

UniProt accession: Q9NWM8
Gene: FKBP14
Ensembl: ENSG00000106080
Chromosome: 7
Canonical length: 211 aa
Protein class: Disease related genes, Enzymes, Human disease related genes, Metabolic proteins, Potential drug targets, Predicted intracellular proteins
Subcellular location: Nucleoplasm,Golgi apparatus,Cytosol
Secretome location: Intracellular and membrane
Quaternary structure: Homodimer

OverviewNCBI Gene

The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012]

Canonical amino-acid sequenceUniProt

211 residues, UniProt reviewed canonical sequence.

>Q9NWM8|FKBP14
     1  MRLFLWNAVL TLFVTSLIGA LIPEPEVKIE VLQKPFICHR KTKGGDLMLV HYEGYLEKDG
    61  SLFHSTHKHN NGQPIWFTLG ILEALKGWDQ GLKGMCVGEK RKLIIPPALG YGKEGKGKIP
   121  PESTLIFNID LLEIRNGPRS HESFQEMDLN DDWKLSKDEV KAYLKKEFEK HGAVVNESHH
   181  DALVEDIFDK EDEDKDGFIS AREFTYKHDE L

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against FKBP14 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): 0.37
Highest tissue expression: 13 nTPM

Expression across tissuesHPA

Tissue

smooth muscle: 13 nTPM
epididymis: 9.4 nTPM
cervix: 9.3 nTPM
urinary bladder: 8.3 nTPM
endometrium: 7.9 nTPM
pituitary gland: 7.4 nTPM

Single-cell type

somatotrophs: 86 nCPM
epididymal principal cells: 82 nCPM
plasma cells: 81 nCPM
endometrial glandular cells: 78 nCPM
lactotrophs: 65 nCPM
endometrial ciliated cells: 62 nCPM

Immune cell

plasmacytoid DC: 0.6 nTPM
basophil: 0.4 nTPM
myeloid DC: 0.4 nTPM
neutrophil: 0.4 nTPM
classical monocyte: 0.2 nTPM
eosinophil: 0.2 nTPM

Brain region

cerebellum: 13 nTPM
cerebral cortex: 8.8 nTPM
basal ganglia: 8.7 nTPM
hypothalamus: 8.7 nTPM
medulla oblongata: 8.5 nTPM
white matter: 8.5 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about FKBP14.

Disease | AllUniProt

Conditions FKBP14 is implicated in, by any mechanism.

Ehlers-Danlos syndrome, kyphoscoliotic type, 2 (EDSKSCL2) MIM:614557

Disease | GeneticClinVar

21 pathogenic / likely-pathogenic of 287 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Ehlers-Danlos syndrome, kyphoscoliotic type, 2
Cardiovascular phenotype
Joint hypermobility
Hypotonia
Pes valgus

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): 1.66
gnomAD pLI: 0
gnomAD missense Z: 0.09
DepMap mean gene effect: 0.02
DepMap dependency class: none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 7% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Molecular functions

Cellular components

endoplasmic reticulum lumen

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads FKBP14 as an antibody target. Whether an autoantibody or antibody against FKBP14 could matter depends on whether native FKBP14 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

FKBP14 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 FKBP14 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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