• Gene id: 8468

Gene Summary

• Gene Symbol: FKBP6   Gene   UCSC   Ensembl
• Aliases: FKBP36
• Gene name: FK506 binding protein 6
• Alternate names: inactive peptidyl-prolyl cis-trans isomerase FKBP6, 36 kDa FKBP, FK506 binding protein 6, 36kDa, PPIase FKBP6, immunophilin FKBP36, inactive PPIase FKBP6, peptidyl-prolyl cis-trans isomerase FKBP6, rotamase,
• Gene location: 7q11.23 (73328151: 73358636)     Exons: 9     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 604839

SNPs

rs3750075

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.73329400C>A
NC_000007.14   g.73329400C>T
NW_003871064.1   g.858636C>A
NW_003871064.1   g.858636C>T
NG_023242.2   g.6245C>A
NG_023242.2   g.6245C>T
NM_003602.5   c.216C>A
NM_003602.5   c.216C>T
NM_003602.4   c.216C>A
NM_003602.4   c.216C>T
NM_001135211.3  

Protein Summary

• Protein general information: O75344  
  • 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)
  • Length: 327  
  • Mass: 37,214
• Sequence:

  MGGSALNQGVLEGDDAPGQSLYERLSQRMLDISGDRGVLKDVIREGAGDLVAPDASVLVKYSGYLEHMDRPFDSN
  YFRKTPRLMKLGEDITLWGMELGLLSMRRGELARFLFKPNYAYGTLGCPPLIPPNTTVLFEIELLDFLDCAESDK
  FCALSAEQQDQFPLQKVLKVAATEREFGNYLFRQNRFYDAKVRYKRALLLLRRRSAPPEEQHLVEAAKLPVLLNL
  SFTYLKLDRPTIALCYGEQALIIDQKNAKALFRCGQACLLLTEYQKARDFLVRAQKEQPFNHDINNELKKLASCY
  RDYVDKEKEMWHRMFAPCGDGSTAGES

• Structural information:
  • Protein Domains: PPIase (54-143)
  • Interpro: IPR023566  IPR001179  IPR013026  IPR011990  IPR019734  
  • Prosite: PS50059 PS50293
  • PDB: 3B7X
  • PDBsum: 3B7X
  • STRING: ENSP00000252037
• Other Databases: GeneCards:  FKBP6  Malacards:  FKBP6

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000413	protein peptidyl-prolyl isomerization	IEA	biological process
GO:0000795	synaptonemal complex	ISS	cellular component
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005528	FK506 binding	IEA	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:0006457	protein folding	ISS	biological process
GO:0007126	meiotic nuclear division	ISS	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0031047	gene silencing by RNA	ISS	biological process
GO:0034587	piRNA metabolic process	ISS	biological process
GO:0043046	DNA methylation involved in gamete generation	ISS	biological process
GO:0051879	Hsp90 protein binding	ISS	molecular function
GO:0061077	chaperone-mediated protein folding	IBA	biological process
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	ISS	molecular function
GO:0000413	protein peptidyl-prolyl isomerization	IEA	biological process
GO:0000795	synaptonemal complex	IEA	cellular component
GO:0000795	synaptonemal complex	ISS	cellular component
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005528	FK506 binding	IEA	molecular function
GO:0005528	FK506 binding	TAS	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	ISS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0006457	protein folding	IEA	biological process
GO:0006457	protein folding	IEA	biological process
GO:0006457	protein folding	ISS	biological process
GO:0006457	protein folding	TAS	biological process
GO:0007126	meiotic nuclear division	IEA	biological process
GO:0007126	meiotic nuclear division	ISS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0007283	spermatogenesis	IEA	biological process
GO:0018208	peptidyl-proline modification	IEA	biological process
GO:0030154	cell differentiation	IEA	biological process
GO:0031047	gene silencing by RNA	IEA	biological process
GO:0031047	gene silencing by RNA	ISS	biological process
GO:0031047	gene silencing by RNA	IEA	biological process
GO:0034587	piRNA metabolic process	IEA	biological process
GO:0034587	piRNA metabolic process	ISS	biological process
GO:0043046	DNA methylation involved in gamete generation	IEA	biological process
GO:0043046	DNA methylation involved in gamete generation	ISS	biological process
GO:0051321	meiotic cell cycle	IEA	biological process
GO:0051879	Hsp90 protein binding	IEA	molecular function
GO:0051879	Hsp90 protein binding	ISS	molecular function
GO:0061077	chaperone-mediated protein folding	IBA	biological process
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	ISS	molecular function
GO:0000795	synaptonemal complex	ISS	cellular component
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IBA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005528	FK506 binding	TAS	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:0006457	protein folding	ISS	biological process
GO:0006457	protein folding	TAS	biological process
GO:0007126	meiotic nuclear division	ISS	biological process
GO:0007283	spermatogenesis	ISS	biological process
GO:0031047	gene silencing by RNA	ISS	biological process
GO:0034587	piRNA metabolic process	ISS	biological process
GO:0043046	DNA methylation involved in gamete generation	ISS	biological process
GO:0051879	Hsp90 protein binding	ISS	molecular function
GO:0061077	chaperone-mediated protein folding	IBA	biological process
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	ISS	molecular function

Diseases

Associated diseases	References
Oligozoospermia	GAD: 17307919
Azoospermia	MIK: 16983454
Male factor infertility	MIK: 16983454
Spermatogenesis defects	MIK: 17307919
Infertility	INFBASE: 17307919
Williams-Beuren syndrome	KEGG: H01439
Azoospermia	MIK: 16983454
Cryptorchidism	MIK: 28606200
Non obstructive azoospermia	MIK: 24012201
Spermatogenic defects	MIK: 31037746
Male infertility	MIK: 17307919

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17307919	Spermatogenic impairment, idiopathic infertile men	FKBP6 (c.58-2A>G, c.111C>T, c.156G>T, c.594G>A, and c.216C>A (rs3750075))		528 (323 patients with azoospermia or severe oligozoospermia, 205 fertile controls)	Male infertility	FKBP6
16983454	Azoospermia	FKBP6 (245C --> G (Y60X))		19 patients with azoospermia	Male infertility	FKBP6
15696470	Idiopathic azoospermia	FKBP6 (278A polymorphism, C/T, 370G/A, 430G/C, 467T/C, 468G/A )	Chinese	408 (177 azoospermia patients, 231 control individuals)	Male infertility	FKBP6
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray