FKBP2 (FKBP prolyl isomerase 2)

Gene

• Entrez ID: 2286
• Gene name: FKBP prolyl isomerase 2
• Gene symbol: FKBP2
• Synonyms (NCBI Gene): FKBP-13, FKBP13, PPIase
• Chromosome: 11
• Chromosome location: 11q13.1
• Summary: The protein encoded by this gene is a member of the immunophilin protein family, which play a role in immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is a cis-trans prolyl isomerase that binds

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT028754	hsa-miR-26b-5p	Microarray	19088304

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	IBA
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	IEA
GO:0005515	Function	Protein binding	IPI	16713569, 25416956, 32296183, 32814053
GO:0005528	Function	FK506 binding	TAS	1713687
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	1713687
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0016020	Component	Membrane	IEA
GO:0016853	Function	Isomerase activity	IEA

Other IDs

• MIM: 186946
• HGNC: 3718
• e!Ensembl: ENSG00000173486

Protein

• UniProt ID: P26885
• Protein name: Peptidyl-prolyl cis-trans isomerase FKBP2 (PPIase FKBP2) (EC 5.2.1.8) (13 kDa FK506-binding protein) (13 kDa FKBP) (FKBP-13) (FK506-binding protein 2) (FKBP-2) (Immunophilin FKBP13) (Rotamase)
• Protein function: PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides.
• PDB: 2PBC, 4NNR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00254	FKBP_C	42 → 134	FKBP-type peptidyl-prolyl cis-trans isomerase	Domain

• Tissue specificity: TISSUE SPECIFICITY: T-cells and thymus.
• Sequence:

  MRLSWFRVLTVLSICLSAVATATGAEGKRKLQIGVKKRVDHCPIKSRKGDVLHMHYTGKL
  EDGTEFDSSLPQNQPFVFSLGTGQVIKGWDQGLLGMCEGEKRKLVIPSELGYGERGAPPK
  IPGGATLVFEVELLKIERRTEL

• Sequence length: 142

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
STOMACH NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	10077670		★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	40562893	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary Diffuse Gastric Cancer	Gastric Cancer	CTD_human_DG	21364753		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	CTD_human_DG	21364753		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	28152021, 28262728, 31026381		★☆☆☆☆ Found in Text Mining only
Multiple Endocrine Neoplasia Type 1	Multiple Endocrine Neoplasia	BEFREE	7535744		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	7535744		★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	BEFREE	31830361		★☆☆☆☆ Found in Text Mining only
Stomach Diseases	Stomach Diseases	BEFREE	29148176		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	CTD_human_DG	21364753		★★☆☆☆ Found in Text Mining + Unknown/Other Associations