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GeneE
1 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
FKBP1C
FKBP prolyl isomerase family member 1C
Chromosome 6 Β· 6q12
NCBI Gene: 642489Ensembl: ENSG00000198225.6HGNC: HGNC:21376UniProt: Q5VVH2
1PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
peptidyl-prolyl cis-trans isomerase activityprotein foldingregulation of cardiac muscle contraction by regulation of the release of sequestered calcium ionsarcoplasmic reticulum membranemultiple sclerosisovarian dysfunctionDNA methylationhead and neck malignant neoplasia
✦AI Summary

Based on limited published evidence, FKBP1C is a peptidyl-prolyl cis-trans isomerase that catalyzes proline isomerization in oligopeptides and facilitates protein folding. UniProt annotations indicate involvement in regulating cardiac muscle contraction through sarcoplasmic reticulum calcium release. A whole-exome sequencing study of Nigerian benign prostatic hyperplasia samples identified FKBP1C somatic variants at significantly elevated frequency, suggesting potential involvement in apoptotic pathway dysfunction 1. However, functional validation of these associations remains limited.

Sources cited
1
FKBP1C showed significantly higher somatic alteration frequency in Nigerian benign prostatic hyperplasia samples, implicating it in apoptosis-related pathways affecting prostate development
PMID: 38192023
⚠Limited data available β€” This gene has 1 indexed publication. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
multiple sclerosisOpen Targets
0.28Weak
ovarian dysfunctionOpen Targets
0.26Weak
DNA methylationOpen Targets
0.21Weak
head and neck malignant neoplasiaOpen Targets
0.17Weak
ovarian neoplasmOpen Targets
0.17Weak
brain aneurysmOpen Targets
0.16Weak
osteitis deformansOpen Targets
0.16Weak
retinopathyOpen Targets
0.16Weak
hypertrophic cardiomyopathyOpen Targets
0.07Suggestive
Rare familial disorder with hypertrophic cardiomyopathyOpen Targets
0.07Suggestive
left ventricular noncompactionOpen Targets
0.06Suggestive
dilated cardiomyopathyOpen Targets
0.06Suggestive
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.05Suggestive
familial isolated dilated cardiomyopathyOpen Targets
0.05Suggestive
Sensorineural deafness with dilated cardiomyopathyOpen Targets
0.04Suggestive
hypertrophic cardiomyopathy 4Open Targets
0.04Suggestive
hypertrophic cardiomyopathy 15Open Targets
0.04Suggestive
dilated cardiomyopathy 1MOpen Targets
0.04Suggestive
dilated cardiomyopathy 1FFOpen Targets
0.04Suggestive
dilated cardiomyopathy 1GGOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
PPIAProtein interaction79%PPP3R1Protein interaction79%ATCAYProtein interaction71%PPIAL4HShared pathway50%SDIM1Shared pathway50%PPIAL4EShared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
98%
Heart
53%
Ovary
44%
Brain
35%
Liver
28%
Gene Interaction Network
Click a node to explore
FKBP1CPPIAPPP3R1ATCAYPPIAL4HSDIM1PPIAL4E
PROTEIN STRUCTURE
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AlphaFoldAI-predicted Β· UniProt Q5VVH2
View on AlphaFold β†—
RankingsWhere FKBP1C stands among ~20K protein-coding genes
  • #19,306of 20,598
    Most Researched1
Genes detectedFKBP1C
Sources retrieved1 papers
Response timeβ€”
πŸ“„ Sources
1
1
Whole-exome sequencing of Nigerian benign prostatic hyperplasia reveals increased alterations in apoptotic pathways.
PMID: 38192023
Prostate Β· 2024
1.00