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

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	8468
Gene name	FKBP prolyl isomerase family member 6 (inactive)
Gene symbol	FKBP6
Synonyms (NCBI Gene)	FKBP36SPGF77
Chromosome	7
Chromosome location	7q11.23
Summary	The protein encoded by this gene is a cis-trans peptidyl-prolyl isomerase that may function in immunoregulation and basic cellular processes involving protein folding and trafficking. This gene is located in a chromosomal region that is deleted in William

Show/Hide all (19)

miRTarBase ID	miRNA	Experiments
MIRT997705	hsa-miR-3192	CLIP-seq
MIRT997706	hsa-miR-3199	CLIP-seq
MIRT997707	hsa-miR-3689a-3p	CLIP-seq
MIRT997708	hsa-miR-3689c	CLIP-seq
MIRT997709	hsa-miR-4446-3p	CLIP-seq
MIRT997710	hsa-miR-4492	CLIP-seq
MIRT997711	hsa-miR-4498	CLIP-seq
MIRT997712	hsa-miR-4505	CLIP-seq
MIRT997713	hsa-miR-4515	CLIP-seq
MIRT997714	hsa-miR-4699-3p	CLIP-seq
MIRT997715	hsa-miR-4728-5p	CLIP-seq
MIRT997716	hsa-miR-762	CLIP-seq
MIRT2465297	hsa-miR-140-3p	CLIP-seq
MIRT2465298	hsa-miR-3134	CLIP-seq
MIRT2465299	hsa-miR-4434	CLIP-seq
MIRT2465300	hsa-miR-4516	CLIP-seq
MIRT2465301	hsa-miR-4531	CLIP-seq
MIRT2465302	hsa-miR-4534	CLIP-seq
MIRT2465303	hsa-miR-589	CLIP-seq

Show/Hide all (36)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000795	Component	Synaptonemal complex	IEA
GO:0000795	Component	Synaptonemal complex	ISS
GO:0001650	Component	Fibrillar center	IDA
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	ISS
GO:0005515	Function	Protein binding	IPI	16189514, 25036637, 25416956, 25910212, 26567527, 28514442, 29892012, 31515488, 32296183, 32814053, 33961781, 35156780
GO:0005528	Function	FK506 binding	TAS	9782077
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	IBA
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	ISS
GO:0006457	Process	Protein folding	IEA
GO:0006457	Process	Protein folding	ISS
GO:0006457	Process	Protein folding	TAS	9782077
GO:0007283	Process	Spermatogenesis	IBA
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	ISS
GO:0015630	Component	Microtubule cytoskeleton	IDA
GO:0030154	Process	Cell differentiation	IEA
GO:0031047	Process	Regulatory ncRNA-mediated gene silencing	IEA
GO:0031047	Process	Regulatory ncRNA-mediated gene silencing	ISS
GO:0034587	Process	PiRNA processing	IBA
GO:0034587	Process	PiRNA processing	IEA
GO:0034587	Process	PiRNA processing	ISS
GO:0042802	Function	Identical protein binding	IPI	26567527, 32296183
GO:0045070	Process	Positive regulation of viral genome replication	IMP	26567527
GO:0045171	Component	Intercellular bridge	IDA
GO:0051321	Process	Meiotic cell cycle	IEA
GO:0051321	Process	Meiotic cell cycle	ISS
GO:0051879	Function	Hsp90 protein binding	IBA
GO:0051879	Function	Hsp90 protein binding	IEA
GO:0051879	Function	Hsp90 protein binding	ISS
GO:0141196	Process	Transposable element silencing by piRNA-mediated DNA methylation	IEA
GO:0141196	Process	Transposable element silencing by piRNA-mediated DNA methylation	ISS

MIM	HGNC	e!Ensembl
604839	3722	ENSG00000077800

O75344

Protein name

Inactive peptidyl-prolyl cis-trans isomerase FKBP6 (Inactive PPIase FKBP6) (36 kDa FK506-binding protein) (36 kDa FKBP) (FKBP-36) (FK506-binding protein 6) (FKBP-6) (Immunophilin FKBP36)

Protein function

Has an essential role in spermatogenesis (PubMed:36150389). It is required to repress transposable elements and prevent their mobilization, which is essential for the germline integrity (By similarity). Acts via the piRNA metabolic process, whic

PDB

3B7X

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00254	FKBP_C	48 → 140	FKBP-type peptidyl-prolyl cis-trans isomerase	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in all tissues examined, with higher expression in testis, heart, skeletal muscle, liver, and kidney.

Sequence

MGGSALNQGVLEGDDAPGQSLYERLSQRMLDISGDRGVLKDVIREGAGDLVAPDASVLVK
YSGYLEHMDRPFDSNYFRKTPRLMKLGEDITLWGMELGLLSMRRGELARFLFKPNYAYGT
LGCPPLIPPNTTVLFEIELLDFLDCAESDKFCALSAEQQDQFPLQKVLKVAATEREFGNY
LFRQNRFYDAKVRYKRALLLLRRRSAPPEEQHLVEAAKLPVLLNLSFTYLKLDRPTIALC
YGEQALIIDQKNAKALFRCGQACLLLTEYQKARDFLVRAQKEQPFNHDINNELKKLASCY
RDYVDKEKEMWHRMFAPCGDGSTAGES

Sequence length

327

Interactions

View interactions

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 Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Male infertility	Likely pathogenic; Pathogenic	rs781881868, rs1554549291, rs782102648, rs368448146, rs2484553602	RCV002307841 RCV002307842 RCV002307843 RCV002307844 RCV002307845	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spermatogenic failure 77	Likely pathogenic; Pathogenic	rs781881868, rs1554549291, rs782102648, rs368448146, rs2484553602	RCV002294518 RCV002294519 RCV002294520 RCV002294521 RCV002294522	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

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.
FAMILIAL HYPERLIPIDEMIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FKBP6-related disorder	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
WILLIAMS SYNDROME	—	Disgenet, Orphanet Disgenet, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (12)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
AMYOTROPHIC LATERAL SCLEROSIS 1	Lateral Sclerosis	BEFREE	10077670		★★★★★ ★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	BEFREE	16227348, 16983454, 20210997		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	38092774	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Heart Defects Congenital	Congenital heart defect	Pubtator	22318994	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypercalcemia	Hypercalcemia	BEFREE	9782077		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	29873607		★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	29873607	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-obstructive azoospermia	Non-obstructive azoospermia	BEFREE	16227348		★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	24241165	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	24241165	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Williams Syndrome	Williams Syndrome	GENOMICS_ENGLAND_DG	15770126		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Williams Syndrome	Williams Syndrome	BEFREE	17949295, 9782077		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

FKBP6 (FKBP prolyl isomerase family member 6 (inactive))