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 (... See more...

Aliases for FKBP4 Gene

Aliases for FKBP4 Gene

  • FKBP Prolyl Isomerase 4 2 3 5
  • Peptidyl-Prolyl Cis-Trans Isomerase FKBP4 3 4
  • FK506 Binding Protein 4, 59kDa 2 3
  • EC 5.2.1.8 4 52
  • Rotamase 3 4
  • FKBP51 3 4
  • FKBP52 3 4
  • FKBP59 3 4
  • HBI 3 4
  • 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
  • FK506 Binding Protein 4 2
  • 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 (FKBP Prolyl Isomerase 4) is a Protein Coding gene. Diseases associated with FKBP4 include In Situ Carcinoma and Ocular Hypertension. Among its related pathways are Glucocorticoid receptor regulatory network and PEDF Induced Signaling. Gene Ontology (GO) annotations related to this gene include protein binding, bridging. An important paralog of this gene is FKBP5.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for FKBP4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FKBP4 Gene

Genomics for FKBP4 Gene

GeneHancer (GH) Regulatory Elements for FKBP4 Gene

Promoters and enhancers for FKBP4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J002794 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 500.7 +0.5 476 3.6 ZNF217 EP300 NRF1 POLR2G SP1 PHF8 ZFX CTCF ZBTB5 ZIC2 CBX3P4 FKBP4 piR-60051-020 ENSG00000258092 ITFG2-AS1
GH12J002793 Enhancer 0.7 Ensembl CraniofacialAtlas 500.7 -2.0 -1980 0.5 RELA ZNF592 E2F6 ZFP64 SMARCA4 POLR2A ZBTB33 NR2F6 L3MBTL2 MAX CBX3P4 FKBP4 lnc-NRIP2-8 piR-60051-020 piR-54104 piR-49715 NRIP2 ITFG2-AS1
GH12J002876 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 10 +82.4 82424 3.9 ZSCAN5C SIN3A POLR2G USF1 GTF2E2 PHF8 TEAD4 ZFX ZNF10 POLR2A TULP3 RHNO1 FOXM1 ITFG2 CBX3P4 DCP1B NRIP2 ENSG00000227081 IQSEC3P1 FKBP4
GH12J002690 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 10.8 -103.7 -103741 3.2 CTCF HDAC2 POLR2A YY1 PHF8 ETS1 E2F6 ZNF335 MYC SCRT1 CACNA1C-AS1 ITFG2 FKBP4 piR-32214-101 CACNA1C
GH12J002752 Enhancer 1.3 FANTOM5 Ensembl ENCODE 10.3 -41.9 -41858 1.4 ZBTB40 SIN3A NRF1 TEAD4 REST KDM6A GABPA AFF1 ZBTB26 CTCF IQSEC3P1 FKBP4 ITFG2 NRIP2 FOXM1 RHNO1 TULP3 piR-40110-100 ITFG2-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FKBP4 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FKBP4

Top Transcription factor binding sites by QIAGEN in the FKBP4 gene promoter:
  • Bach1
  • CP2
  • FAC1
  • FOXJ2
  • FOXJ2 (long isoform)
  • HSF2
  • Msx-1
  • Sp1
  • SRF
  • SRF (504 AA)

Genomic Locations for FKBP4 Gene

Genomic Locations for FKBP4 Gene
chr12:2,794,942-2,805,423
(GRCh38/hg38)
Size:
10,482 bases
Orientation:
Plus strand
chr12:2,904,108-2,914,589
(GRCh37/hg19)
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). Interacts with GLMN (PubMed:12604780). 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 (By similarity). 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 Lys28, Lys76, Lys83, Lys88, Lys222, Lys244, Lys250, Lys354, Lys378, and Lys409
  • Modification sites at PhosphoSitePlus

Other Protein References for FKBP4 Gene

Domains & Families for FKBP4 Gene

Gene Families for FKBP4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for FKBP4 Gene

GenScript: Design optimal peptide antigens:
  • Rotamase (FKBP4_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q02790

UniProtKB/Swiss-Prot:

FKBP4_HUMAN :
  • The PPIase activity is mainly due to the first PPIase FKBP-type domain (1-138 AA).
Domain:
  • The PPIase activity is mainly due to the first 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.
genes like me logo Genes that share domains with FKBP4: view

Function for FKBP4 Gene

Molecular function for FKBP4 Gene

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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[protein]-peptidylproline (omega=180) = [protein]-peptidylproline (omega=0); Xref=Rhea:RHEA:16237, Rhea:RHEA-COMP:10747, Rhea:RHEA-COMP:10748, ChEBI:CHEBI:83833, ChEBI:CHEBI:83834; EC=5.2.1.8;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by FK506.

Enzyme Numbers (IUBMB) for FKBP4 Gene

Phenotypes From GWAS Catalog for FKBP4 Gene

Gene Ontology (GO) - Molecular Function for FKBP4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0003755 peptidyl-prolyl cis-trans isomerase activity IDA,IEA 11350175
GO:0005515 protein binding IEA,IPI 11583998
GO:0005524 ATP binding IEA --
GO:0005525 GTP binding IEA --
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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FKBP4

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FKBP4 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 4
mitochondrion 4
plasma membrane 2
extracellular 2
peroxisome 2
endoplasmic reticulum 2
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Nucleoplasm (4)
See all subcellular structures

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 TAS,IBA 21873635
GO:0005739 mitochondrion IEA --
GO:0005829 cytosol TAS --
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

Pathways by source for FKBP4 Gene

1 KEGG pathway for FKBP4 Gene
2 GeneGo (Thomson Reuters) pathways for FKBP4 Gene
  • Cholesterol and Sphingolipids transport / Transport from Golgi and ER to the apical membrane (normal and CF)
  • Development_Glucocorticoid receptor signaling
1 Qiagen pathway for FKBP4 Gene
  • Glucocorticoid Receptor Signaling

SIGNOR curated interactions for FKBP4 Gene

Activates:
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 IBA 21873635
GO:0006457 protein folding 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

mRNA/cDNA for FKBP4 Gene

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FKBP4

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

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, MaxQB, and MOPED for FKBP4 Gene



Protein tissue co-expression partners for FKBP4 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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.

Evidence on tissue expression from TISSUES for FKBP4 Gene

  • Blood(4.5)
  • Liver(4.5)
  • Nervous system(3.9)
  • Pancreas(3.1)
  • Lung(3)
  • Intestine(2.9)
  • Eye(2.4)
  • Kidney(2.4)
  • Muscle(2.4)
  • Adrenal gland(2.1)
  • Heart(2.1)
  • Skin(2.1)
  • Stomach(2.1)
genes like me logo Genes that share expression patterns with FKBP4: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 31 30
  • 99.56 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FKBP4 31 30
  • 90.92 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fkbp4 30
  • 87.92 (n)
mouse
(Mus musculus)
Mammalia Fkbp4 17 31 30
  • 87.48 (n)
cow
(Bos Taurus)
Mammalia FKBP4 31 30
  • 86.49 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FKBP4 31
  • 82 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FKBP4 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves FKBP4 31 30
  • 72.78 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FKBP4 31
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.6060 30
zebrafish
(Danio rerio)
Actinopterygii fkbp4 31 30
  • 65.87 (n)
OneToOne
Dr.3473 30
fruit fly
(Drosophila melanogaster)
Insecta FKBP59 31 32 30
  • 55.86 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009347 30
  • 52.32 (n)
worm
(Caenorhabditis elegans)
Secernentea fkb-6 31 32 30
  • 50.28 (n)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FPR1 31
  • 46 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons ROF1 30
  • 48.96 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.7502 30
rice
(Oryza sativa)
Liliopsida Os08g0525600 30
  • 48.87 (n)
Os.11124 30
wheat
(Triticum aestivum)
Liliopsida Ta.9887 30
corn
(Zea mays)
Liliopsida Zm.8824 30
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FKBP4: view image

Paralogs for FKBP4 Gene

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

  • FKBP4_HUMAN
  • F5H120_HUMAN
  • F5H1U3_HUMAN
  • H0YFG2_HUMAN
  • H0YG86_HUMAN
genes like me logo Genes that share paralogs with FKBP4: view

Variants for FKBP4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FKBP4 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
741680 Likely Benign: not provided 2,799,139(+) G/A MISSENSE_VARIANT
742970 Benign: not provided 2,799,114(+) A/C MISSENSE_VARIANT
756694 Benign: not provided 2,801,224(+) G/A SYNONYMOUS_VARIANT
768503 Likely Benign: not provided 2,797,166(+) A/C MISSENSE_VARIANT
786220 Benign: not provided 2,803,240(+) G/C MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for FKBP4 Gene

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)

Additional Variant Information for FKBP4 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for FKBP4 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
in situ carcinoma
  • carcinoma in situ
ocular hypertension
  • hypertension, ocular
sulfhemoglobinemia
  • sulfemoglobinemia
progesterone resistance
  • pseudocorpus luteum insufficiency
hypospadias
  • familial hypospadias
- elite association - COSMIC cancer census association via MalaCards
Search FKBP4 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FKBP4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 DA … Benasutti M (Proceedings of the National Academy of Sciences of the United States of America 1992) 2 3 4 23 54
  2. S100 proteins regulate the interaction of Hsp90 with Cyclophilin 40 and FKBP52 through their tetratricopeptide repeats. (PMID: 20188096) Shimamoto S … Kobayashi R (FEBS letters 2010) 3 4 23 54
  3. Assessment of SNPs associated with the human glucocorticoid receptor in primary open-angle glaucoma and steroid responders. (PMID: 20376328) Fingert JH … Clark AF (Molecular vision 2010) 3 23 41 54
  4. Studies of a co-chaperone of the androgen receptor, FKBP52, as candidate for hypospadias. (PMID: 17343741) Beleza-Meireles A … Nordenskjöld A (Reproductive biology and endocrinology : RB&E 2007) 3 23 41 54
  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 (Proceedings of the National Academy of Sciences of the United States of America 2004) 3 4 23 54

Products for FKBP4 Gene

Sources for FKBP4 Gene