Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	23770
Gene name	FKBP prolyl isomerase 8
Gene symbol	FKBP8
Synonyms (NCBI Gene)	FKBP38FKBPr38
Chromosome	19
Chromosome location	19p13.11
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. Unlike the other members of the family, this encoded protein doe

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miRTarBase ID	miRNA	Experiments	Reference
MIRT017629	hsa-miR-335-5p	Microarray	18185580
MIRT052520	hsa-let-7a-5p	CLASH	23622248
MIRT049630	hsa-miR-92a-3p	CLASH	23622248
MIRT039410	hsa-miR-421	CLASH	23622248
MIRT036002	hsa-miR-1301-3p	CLASH	23622248
MIRT997765	hsa-miR-1205	CLIP-seq
MIRT997766	hsa-miR-1208	CLIP-seq
MIRT997767	hsa-miR-1224-5p	CLIP-seq
MIRT997768	hsa-miR-1267	CLIP-seq
MIRT997769	hsa-miR-1908	CLIP-seq
MIRT997770	hsa-miR-1909	CLIP-seq
MIRT997771	hsa-miR-1913	CLIP-seq
MIRT997772	hsa-miR-2682	CLIP-seq
MIRT997773	hsa-miR-3150b-3p	CLIP-seq
MIRT997774	hsa-miR-3173-3p	CLIP-seq
MIRT997775	hsa-miR-3180	CLIP-seq
MIRT997776	hsa-miR-3180-3p	CLIP-seq
MIRT997777	hsa-miR-3194-5p	CLIP-seq
MIRT997778	hsa-miR-3196	CLIP-seq
MIRT997779	hsa-miR-3202	CLIP-seq
MIRT997780	hsa-miR-324-3p	CLIP-seq
MIRT997781	hsa-miR-361-3p	CLIP-seq
MIRT997782	hsa-miR-3690	CLIP-seq
MIRT997783	hsa-miR-3915	CLIP-seq
MIRT997784	hsa-miR-3937	CLIP-seq
MIRT997785	hsa-miR-4271	CLIP-seq
MIRT997786	hsa-miR-4313	CLIP-seq
MIRT997787	hsa-miR-4318	CLIP-seq
MIRT997788	hsa-miR-4418	CLIP-seq
MIRT997789	hsa-miR-4420	CLIP-seq
MIRT997790	hsa-miR-4428	CLIP-seq
MIRT997791	hsa-miR-4446-3p	CLIP-seq
MIRT997792	hsa-miR-4447	CLIP-seq
MIRT997793	hsa-miR-4472	CLIP-seq
MIRT997794	hsa-miR-4488	CLIP-seq
MIRT997795	hsa-miR-449c	CLIP-seq
MIRT997796	hsa-miR-4520a-3p	CLIP-seq
MIRT997797	hsa-miR-4638-3p	CLIP-seq
MIRT997798	hsa-miR-4649-3p	CLIP-seq
MIRT997799	hsa-miR-4650-5p	CLIP-seq
MIRT997800	hsa-miR-4652-5p	CLIP-seq
MIRT997801	hsa-miR-4654	CLIP-seq
MIRT997802	hsa-miR-4689	CLIP-seq
MIRT997803	hsa-miR-4697-5p	CLIP-seq
MIRT997804	hsa-miR-4706	CLIP-seq
MIRT997805	hsa-miR-4725-3p	CLIP-seq
MIRT997806	hsa-miR-4738-3p	CLIP-seq
MIRT997807	hsa-miR-4747-5p	CLIP-seq
MIRT997808	hsa-miR-4749-5p	CLIP-seq
MIRT997809	hsa-miR-4769-5p	CLIP-seq
MIRT997810	hsa-miR-4781-5p	CLIP-seq
MIRT997811	hsa-miR-4784	CLIP-seq
MIRT997812	hsa-miR-490-3p	CLIP-seq
MIRT997813	hsa-miR-509-3-5p	CLIP-seq
MIRT997814	hsa-miR-509-5p	CLIP-seq
MIRT997815	hsa-miR-510	CLIP-seq
MIRT997816	hsa-miR-555	CLIP-seq
MIRT997817	hsa-miR-619	CLIP-seq
MIRT997818	hsa-miR-625	CLIP-seq
MIRT997819	hsa-miR-663	CLIP-seq
MIRT997820	hsa-miR-940	CLIP-seq
MIRT997767	hsa-miR-1224-5p	CLIP-seq
MIRT1995760	hsa-miR-1238	CLIP-seq
MIRT1995761	hsa-miR-1252	CLIP-seq
MIRT997768	hsa-miR-1267	CLIP-seq
MIRT1995762	hsa-miR-1285	CLIP-seq
MIRT997769	hsa-miR-1908	CLIP-seq
MIRT997770	hsa-miR-1909	CLIP-seq
MIRT997771	hsa-miR-1913	CLIP-seq
MIRT1995763	hsa-miR-193a-5p	CLIP-seq
MIRT997772	hsa-miR-2682	CLIP-seq
MIRT1995764	hsa-miR-296-5p	CLIP-seq
MIRT1995765	hsa-miR-3124-3p	CLIP-seq
MIRT997773	hsa-miR-3150b-3p	CLIP-seq
MIRT997774	hsa-miR-3173-3p	CLIP-seq
MIRT1995766	hsa-miR-3187-5p	CLIP-seq
MIRT997777	hsa-miR-3194-5p	CLIP-seq
MIRT997779	hsa-miR-3202	CLIP-seq
MIRT997780	hsa-miR-324-3p	CLIP-seq
MIRT1995767	hsa-miR-326	CLIP-seq
MIRT1995768	hsa-miR-330-5p	CLIP-seq
MIRT997781	hsa-miR-361-3p	CLIP-seq
MIRT1995769	hsa-miR-378g	CLIP-seq
MIRT997783	hsa-miR-3915	CLIP-seq
MIRT997784	hsa-miR-3937	CLIP-seq
MIRT997785	hsa-miR-4271	CLIP-seq
MIRT997786	hsa-miR-4313	CLIP-seq
MIRT997790	hsa-miR-4428	CLIP-seq
MIRT997791	hsa-miR-4446-3p	CLIP-seq
MIRT997792	hsa-miR-4447	CLIP-seq
MIRT1995770	hsa-miR-4469	CLIP-seq
MIRT997793	hsa-miR-4472	CLIP-seq
MIRT1995771	hsa-miR-4486	CLIP-seq
MIRT1995772	hsa-miR-4492	CLIP-seq
MIRT1995773	hsa-miR-4498	CLIP-seq
MIRT997795	hsa-miR-449c	CLIP-seq
MIRT997799	hsa-miR-4650-5p	CLIP-seq
MIRT997800	hsa-miR-4652-5p	CLIP-seq
MIRT997802	hsa-miR-4689	CLIP-seq
MIRT1995774	hsa-miR-4691-5p	CLIP-seq
MIRT997804	hsa-miR-4706	CLIP-seq
MIRT1995775	hsa-miR-4721	CLIP-seq
MIRT997805	hsa-miR-4725-3p	CLIP-seq
MIRT1995776	hsa-miR-4730	CLIP-seq
MIRT997806	hsa-miR-4738-3p	CLIP-seq
MIRT997807	hsa-miR-4747-5p	CLIP-seq
MIRT997808	hsa-miR-4749-5p	CLIP-seq
MIRT997810	hsa-miR-4781-5p	CLIP-seq
MIRT997811	hsa-miR-4784	CLIP-seq
MIRT997815	hsa-miR-510	CLIP-seq
MIRT1995777	hsa-miR-548a-3p	CLIP-seq
MIRT1995778	hsa-miR-548e	CLIP-seq
MIRT1995779	hsa-miR-548f	CLIP-seq
MIRT997816	hsa-miR-555	CLIP-seq
MIRT1995780	hsa-miR-612	CLIP-seq
MIRT997818	hsa-miR-625	CLIP-seq
MIRT1995781	hsa-miR-642a	CLIP-seq
MIRT997819	hsa-miR-663	CLIP-seq
MIRT1995782	hsa-miR-762	CLIP-seq
MIRT1995783	hsa-miR-769-5p	CLIP-seq
MIRT997820	hsa-miR-940	CLIP-seq
MIRT997769	hsa-miR-1908	CLIP-seq
MIRT997770	hsa-miR-1909	CLIP-seq
MIRT997771	hsa-miR-1913	CLIP-seq
MIRT997772	hsa-miR-2682	CLIP-seq
MIRT997779	hsa-miR-3202	CLIP-seq
MIRT997780	hsa-miR-324-3p	CLIP-seq
MIRT997781	hsa-miR-361-3p	CLIP-seq
MIRT997784	hsa-miR-3937	CLIP-seq
MIRT997785	hsa-miR-4271	CLIP-seq
MIRT997786	hsa-miR-4313	CLIP-seq
MIRT997791	hsa-miR-4446-3p	CLIP-seq
MIRT997795	hsa-miR-449c	CLIP-seq
MIRT997799	hsa-miR-4650-5p	CLIP-seq
MIRT997800	hsa-miR-4652-5p	CLIP-seq
MIRT997804	hsa-miR-4706	CLIP-seq
MIRT997805	hsa-miR-4725-3p	CLIP-seq
MIRT997807	hsa-miR-4747-5p	CLIP-seq
MIRT997808	hsa-miR-4749-5p	CLIP-seq
MIRT997815	hsa-miR-510	CLIP-seq
MIRT997819	hsa-miR-663	CLIP-seq
MIRT997820	hsa-miR-940	CLIP-seq
MIRT997769	hsa-miR-1908	CLIP-seq
MIRT997787	hsa-miR-4318	CLIP-seq
MIRT997804	hsa-miR-4706	CLIP-seq
MIRT997808	hsa-miR-4749-5p	CLIP-seq
MIRT997812	hsa-miR-490-3p	CLIP-seq
MIRT997817	hsa-miR-619	CLIP-seq
MIRT997819	hsa-miR-663	CLIP-seq
MIRT997767	hsa-miR-1224-5p	CLIP-seq
MIRT997768	hsa-miR-1267	CLIP-seq
MIRT997773	hsa-miR-3150b-3p	CLIP-seq
MIRT997781	hsa-miR-361-3p	CLIP-seq
MIRT997783	hsa-miR-3915	CLIP-seq
MIRT997786	hsa-miR-4313	CLIP-seq
MIRT997799	hsa-miR-4650-5p	CLIP-seq
MIRT997802	hsa-miR-4689	CLIP-seq
MIRT997806	hsa-miR-4738-3p	CLIP-seq
MIRT997811	hsa-miR-4784	CLIP-seq

Show/Hide all (52)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001708	Process	Cell fate specification	IEA
GO:0001933	Process	Negative regulation of protein phosphorylation	IMP	15733859
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	IEA
GO:0005515	Function	Protein binding	IPI	16844119, 17024179, 17082457, 17353276, 18160438, 18216108, 18459960, 20029029, 21360678, 24169621, 25036637, 26567527, 28169297, 28381481, 31908024, 31980649, 32296183, 35271311, 35537812
GO:0005516	Function	Calmodulin binding	EXP	20707607, 24145868
GO:0005516	Function	Calmodulin binding	IPI	24145868
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005740	Component	Mitochondrial envelope	IBA
GO:0005740	Component	Mitochondrial envelope	IEA
GO:0005783	Component	Endoplasmic reticulum	IDA
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0006457	Process	Protein folding	IBA
GO:0006457	Process	Protein folding	IEA
GO:0006457	Process	Protein folding	IMP	29916806
GO:0006915	Process	Apoptotic process	IEA
GO:0006915	Process	Apoptotic process	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0009953	Process	Dorsal/ventral pattern formation	IEA
GO:0010468	Process	Regulation of gene expression	IEA
GO:0012505	Component	Endomembrane system	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016853	Function	Isomerase activity	IEA
GO:0021904	Process	Dorsal/ventral neural tube patterning	IEA
GO:0021915	Process	Neural tube development	IEA
GO:0030509	Process	BMP signaling pathway	IEA
GO:0030510	Process	Regulation of BMP signaling pathway	IEA
GO:0030513	Process	Positive regulation of BMP signaling pathway	IEA
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0032991	Component	Protein-containing complex	IMP	15733859
GO:0035264	Process	Multicellular organism growth	IEA
GO:0035556	Process	Intracellular signal transduction	TAS	10197430
GO:0042802	Function	Identical protein binding	IPI	17024179
GO:0043010	Process	Camera-type eye development	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IBA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0044183	Function	Protein folding chaperone	IBA
GO:0044183	Function	Protein folding chaperone	IEA
GO:0044183	Function	Protein folding chaperone	IMP	29916806
GO:0046872	Function	Metal ion binding	IEA
GO:0048665	Process	Neuron fate specification	IEA
GO:0060255	Process	Regulation of macromolecule metabolic process	IEA
GO:0070585	Process	Protein localization to mitochondrion	IPI	31908024
GO:0097718	Function	Disordered domain specific binding	IPI	15733859
GO:1901524	Process	Regulation of mitophagy	IDA	28381481, 31908024

MIM	HGNC	e!Ensembl
604840	3724	ENSG00000105701

Q14318

Protein name

Peptidyl-prolyl cis-trans isomerase FKBP8 (PPIase FKBP8) (EC 5.2.1.8) (38 kDa FK506-binding protein) (38 kDa FKBP) (FKBP-38) (hFKBP38) (FK506-binding protein 8) (FKBP-8) (FKBPR38) (Rotamase)

Protein function

Constitutively inactive PPiase, which becomes active when bound to calmodulin and calcium. Seems to act as a chaperone for BCL2, targets it to the mitochondria and modulates its phosphorylation state. The BCL2/FKBP8/calmodulin/calcium complex pr

PDB

2AWG , 2D9F , 2F2D , 2MF9 , 3EY6 , 5MGX

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00254	FKBP_C	113 → 201	FKBP-type peptidyl-prolyl cis-trans isomerase	Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed. Highest levels seen in the brain. Highly abundant in the retina. {ECO:0000269|PubMed:18385096}.

Sequence

MASCAEPSEPSAPLPAGVPPLEDFEVLDGVEDAEGEEEEEEEEEEEDDLSELPPLEDMGQ
PPAEEAEQPGALAREFLAAMEPEPAPAPAPEEWLDILGNGLLRKKTLVPGPPGSSRPVKG
QVVTVHLQTSLENGTRVQEEPELVFTLGDCDVIQALDLSVPLMDVGETAMVTADSKYCYG
PQGRSPYIPPHAALCLEVTLKTAVDGPDLEMLTGQERVALANRKRECGNAHYQRADFVLA
ANSYDLAIKAITSSAKVDMTFEEEAQLLQLKVKCLNNLAASQLKLDHYRAALRSCSLVLE
HQPDNIKALFRKGKVLAQQGEYSEAIPILRAALKLEPSNKTIHAELSKLVKKHAAQRSTE
TALYRKMLGNPSRLPAKCPGKGAWSIPWKWLFGATAVALGGVALSVVIAARN

Sequence length

412

Interactions

View interactions

	KEGG		Reactome
	Mitophagy - animal		Ub-specific processing proteases

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)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
ALZHEIMER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Marfanoid habitus and intellectual disability	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SUBSTANCE ABUSE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (5)

Disease Name	Relationship Type	References	Evidence Score
Associations from Text MiningDisease associations identified through Pubtator
Carcinoma Hepatocellular	Associate	35970393	★★★★★ ★☆☆☆☆ Found in Text Mining only
COVID 19	Associate	34962926	★★★★★ ★☆☆☆☆ Found in Text Mining only
Long Qt Syndrome 2	Associate	17569659	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Associate	18036348	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stress Disorders Post Traumatic	Associate	38212778	★★★★★ ★☆☆☆☆ Found in Text Mining only

FKBP8 (FKBP prolyl isomerase 8)