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Aliases for FKBP4 Gene

Aliases for FKBP4 Gene

  • FK506 Binding Protein 4 2 3 5
  • FK506 Binding Protein 4, 59kDa 2 3
  • EC 5.2.1.8 4 61
  • Rotamase 3 4
  • FKBP51 3 4
  • FKBP52 3 4
  • FKBP59 3 4
  • HBI 3 4
  • Peptidyl-Prolyl Cis-Trans Isomerase FKBP4 3
  • T-Cell FK506-Binding Protein, 59kD 3
  • Peptidylprolyl Cis-Trans Isomerase 3
  • FK506-Binding Protein 4 (59kD) 2
  • 51 KDa FK506-Binding Protein 4
  • 52 KDa FK506-Binding Protein 4
  • HSP Binding Immunophilin 3
  • HSP-Binding Immunophilin 4
  • FK506-Binding Protein 4 4
  • 59 KDa Immunophilin 4
  • Immunophilin FKBP52 4
  • PPIase FKBP4 4
  • 52 KDa FKBP 4
  • FKBP-52 4
  • PPIASE 3
  • FKBP-4 4
  • Hsp56 3
  • P52 3
  • P59 4

External Ids for FKBP4 Gene

Previous GeneCards Identifiers for FKBP4 Gene

  • GC12P002776
  • GC12P002797
  • GC12P002774
  • GC12P002904
  • GC12P002764

Summaries for FKBP4 Gene

Entrez Gene Summary for FKBP4 Gene

  • 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 to the immunosuppressants FK506 and rapamycin. It has high structural and functional similarity to FK506-binding protein 1A (FKBP1A), but unlike FKBP1A, this protein does not have immunosuppressant activity when complexed with FK506. It interacts with interferon regulatory factor-4 and plays an important role in immunoregulatory gene expression in B and T lymphocytes. This encoded protein is known to associate with phytanoyl-CoA alpha-hydroxylase. It can also associate with two heat shock proteins (hsp90 and hsp70) and thus may play a role in the intracellular trafficking of hetero-oligomeric forms of the steroid hormone receptors. This protein correlates strongly with adeno-associated virus type 2 vectors (AAV) resulting in a significant increase in AAV-mediated transgene expression in human cell lines. Thus this encoded protein is thought to have important implications for the optimal use of AAV vectors in human gene therapy. The human genome contains several non-transcribed pseudogenes similar to this gene. [provided by RefSeq, Sep 2008]

GeneCards Summary for FKBP4 Gene

FKBP4 (FK506 Binding Protein 4) is a Protein Coding gene. Diseases associated with FKBP4 include Non-Suppurative Otitis Media and Refsum Disease. Among its related pathways are Development_Glucocorticoid receptor signaling and HSF1-dependent transactivation. GO annotations related to this gene include poly(A) RNA binding and protein binding, bridging. An important paralog of this gene is FKBP5.

UniProtKB/Swiss-Prot for FKBP4 Gene

  • Immunophilin protein with PPIase and co-chaperone activities. Component of steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). May play a role in the intracellular trafficking of heterooligomeric forms of steroid hormone receptors between cytoplasm and nuclear compartments. The isomerase activity controls neuronal growth cones via regulation of TRPC1 channel opening. Acts also as a regulator of microtubule dynamics by inhibiting MAPT/TAU ability to promote microtubule assembly. May have a protective role against oxidative stress in mitochondria.

Gene Wiki entry for FKBP4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FKBP4 Gene

Genomics for FKBP4 Gene

Regulatory Elements for FKBP4 Gene

Enhancers for FKBP4 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F002824 0.5 ENCODE 11.4 +31.0 31033 2.6 ZNF341 FKBP4 CBX3P4 RHNO1 TULP3 FOXM1 NRIP2 ENSG00000256150 ENSG00000258325
GH12F002693 0.5 Ensembl 11.4 -101.6 -101642 0.6 CTCF PRDM1 CBX3P4 FKBP4 ITFG2 CACNA1C-AS1 ENSG00000283587
GH12F002751 0.5 ENCODE 11 -43.6 -43593 0.2 SCRT1 ZNF121 SCRT2 CBX3P4 FKBP4 ITFG2 IQSEC3P1 LOC100422463
GH12F002731 1.2 Ensembl ENCODE 10.9 -62.5 -62507 1.4 CBX3P4 FKBP4 ITFG2 ENSG00000283587 LOC100422463
GH12F002733 0.4 ENCODE 10.9 -60.8 -60831 1.0 CTCF CBX3P4 FKBP4 ITFG2 ENSG00000283587 LOC100422463
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around FKBP4 on UCSC Golden Path with GeneCards custom track

Promoters for FKBP4 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000652939 459 2800 ARID4B SIN3A DMAP1 ZNF48 ZNF2 YY1 GLIS2 ZNF143 ZNF207 KLF13

Genomic Location for FKBP4 Gene

Chromosome:
12
Start:
2,794,942 bp from pter
End:
2,805,423 bp from pter
Size:
10,482 bases
Orientation:
Plus strand

Genomic View for FKBP4 Gene

Genes around FKBP4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FKBP4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FKBP4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FKBP4 Gene

Proteins for FKBP4 Gene

  • Protein details for FKBP4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q02790-FKBP4_HUMAN
    Recommended name:
    Peptidyl-prolyl cis-trans isomerase FKBP4
    Protein Accession:
    Q02790
    Secondary Accessions:
    • D3DUQ1
    • Q9UCP1
    • Q9UCV7

    Protein attributes for FKBP4 Gene

    Size:
    459 amino acids
    Molecular mass:
    51805 Da
    Quaternary structure:
    • Homodimer (By similarity). Associates with HSP90AA1 and HSP70 in steroid hormone receptor complexes. Also interacts with peroxisomal phytanoyl-CoA alpha-hydroxylase (PHYH). Interacts with NR3C1 and dynein. Interacts with HSF1 in the HSP90 complex. Associates with tubulin. Interacts with MAPT/TAU. Interacts (via TPR domain) with S100A1, S100A2 and S100A6; the interaction is Ca(2+) dependent. Interaction with S100A1 and S100A2 (but not with S100A6) leads to inhibition of FKBP4-HSP90 interaction. Interacts with dynein; causes partially NR3C1 transport to the nucleus.

    Three dimensional structures from OCA and Proteopedia for FKBP4 Gene

neXtProt entry for FKBP4 Gene

Selected DME Specific Peptides for FKBP4 Gene

Q02790:
  • KIVSWLE
  • TRGEGYA
  • AIQRMEKGEHSI
  • CKPEYAYG
  • LKSFEKAK
  • YLKPSYAFG
  • LARADFQKVLQLYP
  • EDGGIIRR
  • EGVDISPKQDEGVLKVIKREGTGTE
  • GSPPKIP
  • IPPNATL
  • EKKLYANMF

Post-translational modifications for FKBP4 Gene

  • Phosphorylation by CK2 results in loss of HSP90 binding activity.
  • Ubiquitination at Lys 28, Lys 76, Lys 83, Lys 88, Lys 222, Lys 244, Lys 250, Lys 378, and Lys 409
  • Modification sites at PhosphoSitePlus

Other Protein References for FKBP4 Gene

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for FKBP4 (FKBP4)
  • Cloud-Clone Corp. Antibodies for FKBP4

Domains & Families for FKBP4 Gene

Suggested Antigen Peptide Sequences for FKBP4 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q02790

UniProtKB/Swiss-Prot:

FKBP4_HUMAN :
  • The PPIase activity is mainly due to the fisrt PPIase FKBP-type domain (1-138 AA).
  • Contains 3 TPR repeats.
Domain:
  • The PPIase activity is mainly due to the fisrt PPIase FKBP-type domain (1-138 AA).
  • The C-terminal region (AA 375-458) is required to prevent tubulin polymerization.
  • The chaperone activity resides in the C-terminal region, mainly between amino acids 264 and 400.
  • The TPR repeats mediate mitochondrial localization.
  • Contains 2 PPIase FKBP-type domains.
Similarity:
  • Contains 3 TPR repeats.
genes like me logo Genes that share domains with FKBP4: view

Function for FKBP4 Gene

Molecular function for FKBP4 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Peptidylproline (omega=180) = peptidylproline (omega=0).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by FK506.
UniProtKB/Swiss-Prot Function:
Immunophilin protein with PPIase and co-chaperone activities. Component of steroid receptors heterocomplexes through interaction with heat-shock protein 90 (HSP90). May play a role in the intracellular trafficking of heterooligomeric forms of steroid hormone receptors between cytoplasm and nuclear compartments. The isomerase activity controls neuronal growth cones via regulation of TRPC1 channel opening. Acts also as a regulator of microtubule dynamics by inhibiting MAPT/TAU ability to promote microtubule assembly. May have a protective role against oxidative stress in mitochondria.

Enzyme Numbers (IUBMB) for FKBP4 Gene

Gene Ontology (GO) - Molecular Function for FKBP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003755 peptidyl-prolyl cis-trans isomerase activity IEA,IDA 11350175
GO:0005515 protein binding IPI 12604780
GO:0005524 ATP binding IEA --
GO:0005525 GTP binding IEA --
GO:0005528 FK506 binding IEA,TAS 1376003
genes like me logo Genes that share ontologies with FKBP4: view
genes like me logo Genes that share phenotypes with FKBP4: view

Animal Models for FKBP4 Gene

MGI Knock Outs for FKBP4:

Animal Model Products

  • Taconic Biosciences Mouse Models for FKBP4

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FKBP4 Gene

Localization for FKBP4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FKBP4 Gene

Cytoplasm, cytosol. Mitochondrion. Nucleus. Cytoplasm, cytoskeleton. Cell projection, axon. Note=Shuttles from mitochondria to nucleus; co-localizes in mitochondria with the glucocorticoid receptor (PubMed:21730050). Colocalized with MAPT/TAU in the distal part of the primary cortical neurons (By similarity). {ECO:0000250 UniProtKB:Q9QVC8, ECO:0000269 PubMed:21730050}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FKBP4 Gene COMPARTMENTS Subcellular localization image for FKBP4 gene
Compartment Confidence
cytosol 5
extracellular 5
nucleus 5
cytoskeleton 4
endoplasmic reticulum 3
mitochondrion 3
peroxisome 2

Gene Ontology (GO) - Cellular Components for FKBP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA,TAS --
GO:0005739 mitochondrion IEA --
GO:0005789 endoplasmic reticulum membrane IBA --
genes like me logo Genes that share ontologies with FKBP4: view

Pathways & Interactions for FKBP4 Gene

genes like me logo Genes that share pathways with FKBP4: view

SIGNOR curated interactions for FKBP4 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for FKBP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000413 protein peptidyl-prolyl isomerization IEA --
GO:0006457 protein folding IEA,TAS 1279700
GO:0006463 steroid hormone receptor complex assembly IEA --
GO:0006825 copper ion transport IEA --
GO:0007566 embryo implantation IEA --
genes like me logo Genes that share ontologies with FKBP4: view

Drugs & Compounds for FKBP4 Gene

(15) Drugs for FKBP4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(4) Additional Compounds for FKBP4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FKBP4: view

Transcripts for FKBP4 Gene

Unigene Clusters for FKBP4 Gene

FK506 binding protein 4, 59kDa:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for FKBP4 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10
SP1:
SP2:

Relevant External Links for FKBP4 Gene

GeneLoc Exon Structure for
FKBP4
ECgene alternative splicing isoforms for
FKBP4

Expression for FKBP4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FKBP4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FKBP4 Gene

This gene is overexpressed in Lymph node (7.6) and Breast (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FKBP4 Gene



Protein tissue co-expression partners for FKBP4 Gene

NURSA nuclear receptor signaling pathways regulating expression of FKBP4 Gene:

FKBP4

SOURCE GeneReport for Unigene cluster for FKBP4 Gene:

Hs.524183

mRNA Expression by UniProt/SwissProt for FKBP4 Gene:

Q02790-FKBP4_HUMAN
Tissue specificity: Widely expressed.
genes like me logo Genes that share expression patterns with FKBP4: view

Primer Products

No data available for mRNA differential expression in normal tissues for FKBP4 Gene

Orthologs for FKBP4 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FKBP4 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FKBP4 34 35
  • 99.56 (n)
dog
(Canis familiaris)
Mammalia FKBP4 34 35
  • 90.92 (n)
rat
(Rattus norvegicus)
Mammalia Fkbp4 34
  • 87.92 (n)
mouse
(Mus musculus)
Mammalia Fkbp4 34 16 35
  • 87.48 (n)
cow
(Bos Taurus)
Mammalia FKBP4 34 35
  • 86.49 (n)
oppossum
(Monodelphis domestica)
Mammalia FKBP4 35
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FKBP4 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves FKBP4 34 35
  • 72.78 (n)
lizard
(Anolis carolinensis)
Reptilia FKBP4 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6060 34
zebrafish
(Danio rerio)
Actinopterygii fkbp4 34 35
  • 65.87 (n)
Dr.3473 34
fruit fly
(Drosophila melanogaster)
Insecta FKBP59 36 34 35
  • 55.86 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009347 34
  • 52.32 (n)
worm
(Caenorhabditis elegans)
Secernentea fkb-6 36 34 35
  • 50.28 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FPR1 35
  • 46 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ROF1 34
  • 48.96 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7502 34
rice
(Oryza sativa)
Liliopsida Os08g0525600 34
  • 48.87 (n)
Os.11124 34
wheat
(Triticum aestivum)
Liliopsida Ta.9887 34
corn
(Zea mays)
Liliopsida Zm.8824 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 51 (a)
ManyToMany
Species where no ortholog for FKBP4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for FKBP4 Gene

ENSEMBL:
Gene Tree for FKBP4 (if available)
TreeFam:
Gene Tree for FKBP4 (if available)

Paralogs for FKBP4 Gene

Paralogs for FKBP4 Gene

(10) SIMAP similar genes for FKBP4 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with FKBP4: view

Variants for FKBP4 Gene

Sequence variations from dbSNP and Humsavar for FKBP4 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs10047621 -- 2,794,710(+) GGCCA(A/G)GGGAG upstream-variant-2KB
rs1042228 -- 2,803,184(+) ATCCC(A/C)CTGAC reference, missense
rs1042233 -- 2,803,220(+) GCAAC(A/C)CGGCA reference, missense
rs1042261 -- 2,803,314(+) ACTCC(A/C)CCCTG downstream-variant-500B, utr-variant-3-prime
rs1042536 -- 2,803,869(+) AGCCT(C/T)TTCTC nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for FKBP4 Gene

Variant ID Type Subtype PubMed ID
dgv19n68 CNV loss 17160897
dgv2288n54 CNV loss 21841781
dgv2289n54 CNV gain 21841781
dgv2290n54 CNV loss 21841781
dgv2291n54 CNV gain 21841781
esv26689 CNV loss 19812545
esv3628321 CNV gain 21293372
esv3628322 CNV gain 21293372
nsv1047874 CNV gain 25217958
nsv1069633 CNV deletion 25765185
nsv1121846 CNV deletion 24896259
nsv557079 CNV loss 21841781
nsv826194 CNV gain 20364138
nsv826195 CNV gain 20364138

Variation tolerance for FKBP4 Gene

Residual Variation Intolerance Score: 73.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.63; 45.38% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FKBP4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FKBP4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FKBP4 Gene

Disorders for FKBP4 Gene

MalaCards: The human disease database

(4) MalaCards diseases for FKBP4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
non-suppurative otitis media
  • nonsuppurative otitis media
refsum disease
  • heredopathia atactica polyneuritiformis
in situ carcinoma
  • carcinoma in situ
cerebellopontine angle tumor
  • neoplasm of the cerebellopontine angle
- elite association - COSMIC cancer census association via MalaCards
Search FKBP4 in MalaCards View complete list of genes associated with diseases

Relevant External Links for FKBP4

Genetic Association Database (GAD)
FKBP4
Human Genome Epidemiology (HuGE) Navigator
FKBP4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FKBP4
genes like me logo Genes that share disorders with FKBP4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FKBP4 Gene

Publications for FKBP4 Gene

  1. Expression and characterization of human FKBP52, an immunophilin that associates with the 90-kDa heat shock protein and is a component of steroid receptor complexes. (PMID: 1279700) Peattie D.A. … Benasutti M. (Proc. Natl. Acad. Sci. U.S.A. 1992) 2 3 4 22 64
  2. Assessment of SNPs associated with the human glucocorticoid receptor in primary open-angle glaucoma and steroid responders. (PMID: 20376328) Fingert J.H. … Clark A.F. (Mol. Vis. 2010) 3 22 46 64
  3. S100 proteins regulate the interaction of Hsp90 with cyclophilin 40 and FKBP52 through their tetratricopeptide repeats. (PMID: 20188096) Shimamoto S. … Kobayashi R. (FEBS Lett. 2010) 3 4 22 64
  4. Studies of a co-chaperone of the androgen receptor, FKBP52, as candidate for hypospadias. (PMID: 17343741) Beleza-Meireles A. … NordenskjAPld A. (Reprod. Biol. Endocrinol. 2007) 3 22 46 64
  5. 3D structure of human FK506-binding protein 52: implications for the assembly of the glucocorticoid receptor/Hsp90/immunophilin heterocomplex. (PMID: 15159550) Wu B. … Rao Z. (Proc. Natl. Acad. Sci. U.S.A. 2004) 3 4 22 64

Products for FKBP4 Gene

  • Cloud-Clone Corp. Antibodies for FKBP4
  • Cloud-Clone Corp. Proteins for FKBP4
  • Cloud-Clone Corp Assay Kits for FKBP4

Sources for FKBP4 Gene

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