• Gene id: 2288

Gene Summary

• Gene Symbol: FKBP4   Gene   UCSC   Ensembl
• Aliases: FKBP51, FKBP52, FKBP59, HBI, Hsp56, PPIase, p52
• Gene name: FK506 binding protein 4
• Alternate names: peptidyl-prolyl cis-trans isomerase FKBP4, FK506 binding protein 4, 59kDa, HSP binding immunophilin, T-cell FK506-binding protein, 59kD, peptidylprolyl cis-trans isomerase, rotamase,
• Gene location: 12p13.33 (2794941: 2805422)     Exons: 11     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 600611

SNPs

rs3021522

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

NC_000012.12   g.2799979C>G
NC_000012.11   g.2909145C>G|SEQ=[C/G]|GENE=FKBP4
ITFG2-AS1   283440

Protein Summary

• Protein general information: Q02790  
  • Name: Peptidyl prolyl cis trans isomerase FKBP4 (PPIase FKBP4) (EC 5.2.1.8) (51 kDa FK506 binding protein) (FKBP51) (52 kDa FK506 binding protein) (52 kDa FKBP) (FKBP 52) (59 kDa immunophilin) (p59) (FK506 binding protein 4) (FKBP 4) (FKBP59) (HSP binding immun
  • Length: 459  
  • Mass: 51,805
• Sequence:

  MTAEEMKATESGAQSAPLPMEGVDISPKQDEGVLKVIKREGTGTEMPMIGDRVFVHYTGWLLDGTKFDSSLDRKD
  KFSFDLGKGEVIKAWDIAIATMKVGEVCHITCKPEYAYGSAGSPPKIPPNATLVFEVELFEFKGEDLTEEEDGGI
  IRRIQTRGEGYAKPNEGAIVEVALEGYYKDKLFDQRELRFEIGEGENLDLPYGLERAIQRMEKGEHSIVYLKPSY
  AFGSVGKEKFQIPPNAELKYELHLKSFEKAKESWEMNSEEKLEQSTIVKERGTVYFKEGKYKQALLQYKKIVSWL
  EYESSFSNEEAQKAQALRLASHLNLAMCHLKLQAFSAAIESCNKALELDSNNEKGLFRRGEAHLAVNDFELARAD
  FQKVLQLYPNNKAAKTQLAVCQQRIRRQLAREKKLYANMFERLAEEENKAKAEASSGDHPTDTEMKEEQKSNTAG
  SQSQVETEA

• Structural information:
  • Protein Domains: PPIase (50-138)
    PPIase (167-253)
  • Interpro: IPR031212  IPR023566  IPR001179  IPR013026  IPR011990   IPR001440  IPR013105  IPR019734  
  • Prosite: PS50059 PS50005 PS50293
  • PDB: 1N1A 1P5Q 1Q1C 1QZ2 4DRJ 4LAV 4LAW 4LAX 4LAY 4TW8
  • PDBsum: 1N1A 1P5Q 1Q1C 1QZ2 4DRJ 4LAV 4LAW 4LAX 4LAY 4TW8
  • DIP: 50866
  • STRING: ENSP00000001008
• Other Databases: GeneCards:  FKBP4  Malacards:  FKBP4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000413	protein peptidyl-prolyl isomerization	IEA	biological process
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	molecular function
GO:0005528	FK506 binding	TAS	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0006457	protein folding	TAS	biological process
GO:0006463	steroid hormone receptor complex assembly	IEA	biological process
GO:0006825	copper ion transport	IEA	biological process
GO:0007566	embryo implantation	IEA	biological process
GO:0010977	negative regulation of neuron projection development	ISS	biological process
GO:0030521	androgen receptor signaling pathway	IEA	biological process
GO:0030674	protein binding, bridging	TAS	molecular function
GO:0030850	prostate gland development	IEA	biological process
GO:0031072	heat shock protein binding	IPI	molecular function
GO:0031111	negative regulation of microtubule polymerization or depolymerization	ISS	biological process
GO:0031115	negative regulation of microtubule polymerization	IEA	biological process
GO:0031503	protein complex localization	IEA	biological process
GO:0032767	copper-dependent protein binding	IEA	molecular function
GO:0035259	glucocorticoid receptor binding	IEA	molecular function
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043234	protein complex	IEA	cellular component
GO:0044295	axonal growth cone	ISS	cellular component
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0046661	male sex differentiation	IEA	biological process
GO:0048156	tau protein binding	IEA	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0051219	phosphoprotein binding	IEA	molecular function
GO:0061077	chaperone-mediated protein folding	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:0000413	protein peptidyl-prolyl isomerization	IEA	biological process
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IEA	molecular function
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IEA	molecular function
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IEA	molecular function
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005525	GTP binding	IEA	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:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0005739	mitochondrion	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:0005856	cytoskeleton	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0006457	protein folding	IEA	biological process
GO:0006457	protein folding	TAS	biological process
GO:0006463	steroid hormone receptor complex assembly	IEA	biological process
GO:0006825	copper ion transport	IEA	biological process
GO:0007566	embryo implantation	IEA	biological process
GO:0010977	negative regulation of neuron projection development	ISS	biological process
GO:0016853	isomerase activity	IEA	molecular function
GO:0030424	axon	IEA	cellular component
GO:0030521	androgen receptor signaling pathway	IEA	biological process
GO:0030674	protein binding, bridging	TAS	molecular function
GO:0030850	prostate gland development	IEA	biological process
GO:0031072	heat shock protein binding	IEA	molecular function
GO:0031072	heat shock protein binding	IEA	molecular function
GO:0031072	heat shock protein binding	IPI	molecular function
GO:0031111	negative regulation of microtubule polymerization or depolymerization	ISS	biological process
GO:0031115	negative regulation of microtubule polymerization	IEA	biological process
GO:0031503	protein complex localization	IEA	biological process
GO:0032767	copper-dependent protein binding	IEA	molecular function
GO:0035259	glucocorticoid receptor binding	IEA	molecular function
GO:0042995	cell projection	IEA	cellular component
GO:0043005	neuron projection	IEA	cellular component
GO:0043025	neuronal cell body	IEA	cellular component
GO:0043234	protein complex	IEA	cellular component
GO:0044295	axonal growth cone	IEA	cellular component
GO:0044295	axonal growth cone	ISS	cellular component
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0046661	male sex differentiation	IEA	biological process
GO:0048156	tau protein binding	IEA	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0048608	reproductive structure development	IEA	biological process
GO:0051219	phosphoprotein binding	IEA	molecular function
GO:0061077	chaperone-mediated protein folding	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:1900034	regulation of cellular response to heat	TAS	biological process
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005528	FK506 binding	TAS	molecular function
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	TAS	cellular component
GO:0005789	endoplasmic reticulum membrane	IBA	cellular component
GO:0005829	cytosol	ISS	cellular component
GO:0006457	protein folding	TAS	biological process
GO:0010977	negative regulation of neuron projection development	ISS	biological process
GO:0030674	protein binding, bridging	TAS	molecular function
GO:0031072	heat shock protein binding	IPI	molecular function
GO:0031111	negative regulation of microtubule polymerization or depolymerization	ISS	biological process
GO:0044295	axonal growth cone	ISS	cellular component
GO:0044822	poly(A) RNA binding	IDA	molecular function
GO:0061077	chaperone-mediated protein folding	IDA	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0070062	extracellular exosome	IDA	cellular component
GO:1900034	regulation of cellular response to heat	TAS	biological process

KEGG pathways

Pathway id	Pathway name
hsa04915	Estrogen signaling pathway

Diseases

Associated diseases	References
Cancer (glaucoma)	GAD: 20376328
Asthma	GAD: 19254810
Decidualization	INFBASE: 22279148
Endometriosis	INFBASE: 18988805
Female infertility	INFBASE: 22279148
Polycystic ovary syndrome (PCOS)	INFBASE: 26493122
Male factor infertility	MIK: 17343741
Hypospadias	GAD: 17343741
Hypospadias	MIK: 17343741
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Hypospadias	MIK: 17343741
hypospadias	MIK: 17343741
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17343741	hypospadias	rs1062478 (His > Arg), rs3021522 (C > G)	Swedish , Middl e-Easte rn , Ot her nat ionalit ies	713 (333 non-syndromic hypospadias, 380 voluntary controls)	Male infertility
17343741	Hypospadias				Male infertility	FKBP52 FKBP4
17343741	Hypospadias				Male infertility	FKBP52 FKBP4
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray