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. Unlike the other members of the family, this encoded protein does not seem to have PPIase/rotamase activity. It may have a role in neurons associated with memory function. [provided by RefS... See more...

Aliases for FKBP8 Gene

Aliases for FKBP8 Gene

  • FKBP Prolyl Isomerase 8 2 3 5
  • Peptidyl-Prolyl Cis-Trans Isomerase FKBP8 3 4
  • FK506 Binding Protein 8, 38kDa 2 3
  • 38 KDa FK506-Binding Protein 3 4
  • FK506-Binding Protein 8 3 4
  • PPIase FKBP8 3 4
  • 38 KDa FKBP 3 4
  • Rotamase 3 4
  • FKBP-38 3 4
  • HFKBP38 3 4
  • FKBP-8 3 4
  • FKBP38 3 4
  • FK506-Binding Protein 8 (38kD) 2
  • FK506 Binding Protein 8 2
  • EC 5.2.1.8 4
  • FKBPr38 3
  • FKBPR38 4

External Ids for FKBP8 Gene

Previous GeneCards Identifiers for FKBP8 Gene

  • GC19M019136
  • GC19M019034
  • GC19M018487
  • GC19M018642
  • GC19M018205

Summaries for FKBP8 Gene

Entrez Gene Summary for FKBP8 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. Unlike the other members of the family, this encoded protein does not seem to have PPIase/rotamase activity. It may have a role in neurons associated with memory function. [provided by RefSeq, Jul 2008]

GeneCards Summary for FKBP8 Gene

FKBP8 (FKBP Prolyl Isomerase 8) is a Protein Coding gene. Diseases associated with FKBP8 include Hepatitis C Virus. Among its related pathways are Role of Calcineurin-dependent NFAT signaling in lymphocytes and Senescence and Autophagy in Cancer. Gene Ontology (GO) annotations related to this gene include identical protein binding and FK506 binding. An important paralog of this gene is FKBP4.

UniProtKB/Swiss-Prot Summary for FKBP8 Gene

  • Constitutively inactive PPiase, which becomes active when bound to calmodulin and calcium. Seems to act as a chaperone for BCL2, targets it to the mitochondria and modulates its phosphorylation state. The BCL2/FKBP8/calmodulin/calcium complex probably interferes with the binding of BCL2 to its targets. The active form of FKBP8 may therefore play a role in the regulation of apoptosis.

Gene Wiki entry for FKBP8 Gene

Additional gene information for FKBP8 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FKBP8 Gene

Genomics for FKBP8 Gene

GeneHancer (GH) Regulatory Elements for FKBP8 Gene

Promoters and enhancers for FKBP8 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
GH19J018542 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 750.6 +0.8 787 3 SP1 ZBTB6 RBPJ SMARCE1 POLR2A FOS MIXL1 CC2D1A NFYC ELF1 FKBP8 piR-47897 UPF1 ENSG00000268938 COLGALT1 ENSG00000268030 IQCN ELL NR2C2AP MEF2B
GH19J018512 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 14.2 +26.2 26190 10.6 ZBTB40 SP1 CTCF ZBTB6 FOXA1 MLX RBPJ SMARCE1 POLR2A USF2 ELL ENSG00000268030 ENSG00000268938 UPF1 NR2C2AP COLGALT1 RPL18A MEF2B MAU2 SSBP4
GH19J018086 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 13.4 +454.8 454833 6.1 SP1 SMARCE1 HDAC2 MYC ETV6 ELF1 HLF L3MBTL2 CEBPB MAX IL12RB1 GTPBP3 UPF1 ENSG00000268030 IQCN FKBP8 ELL ENSG00000268938 SUGP2 FCHO1
GH19J018492 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 12.6 +49.2 49211 5.7 CTCF ZNF362 SP1 GLIS2 ZIC2 PRDM10 GATAD2A ZNF7 ZNF692 HES1 SSBP4 ELL FKBP8 UBA52 CRTC1 REX1BD ARRDC2 JUND IL12RB1 KLHL26
GH19J018498 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 12.6 +39.8 39786 11.7 ZBTB40 FOXA1 MLX NR2F1 NR2F6 NFYC RAD21 ZNF121 ZNF652 ELF3 ELL SSBP4 FKBP8 KXD1 UBA52 REX1BD SUGP2 LRRC25 JUND IL12RB1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FKBP8 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FKBP8 gene promoter:
  • ARP-1
  • ATF
  • CBF(2)
  • COMP1
  • E47
  • MAZR
  • Nkx2-5
  • Tal-1beta

Genomic Locations for FKBP8 Gene

Genomic Locations for FKBP8 Gene
chr19:18,531,751-18,544,077
(GRCh38/hg38)
Size:
12,327 bases
Orientation:
Minus strand
chr19:18,642,561-18,654,887
(GRCh37/hg19)
Size:
12,327 bases
Orientation:
Minus strand

Genomic View for FKBP8 Gene

Genes around FKBP8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FKBP8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FKBP8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FKBP8 Gene

Proteins for FKBP8 Gene

  • Protein details for FKBP8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14318-FKBP8_HUMAN
    Recommended name:
    Peptidyl-prolyl cis-trans isomerase FKBP8
    Protein Accession:
    Q14318
    Secondary Accessions:
    • C8C9T5
    • Q53GU3
    • Q7Z349
    • Q86YK6

    Protein attributes for FKBP8 Gene

    Size:
    412 amino acids
    Molecular mass:
    44562 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Homomultimers or heteromultimers (Potential). Forms heterodimer with calmodulin. When activated by calmodulin and calcium, interacts with the BH4 domain of BCL2 and weakly with BCL2L1/BCLX isoform Bcl-X(L). Does not bind and inhibit calcineurin. Interacts with ZFYVE27; may negatively regulate ZFYVE27 phosphorylation.
    • (Microbial infection) Interacts with hepatitis C/HCV protein NS5A.
    Miscellaneous:
    • Binds the immunosuppressant FK506 only in its calmodulin/calcium activated form.
    SequenceCaution:
    • Sequence=AAB00102.1; Type=Miscellaneous discrepancy; Note=The first part of the cDNA maps to the same locus, but in opposite orientation.; Evidence={ECO:0000305}; Sequence=AAH09966.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD98028.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for FKBP8 Gene

    Alternative splice isoforms for FKBP8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FKBP8 Gene

Post-translational modifications for FKBP8 Gene

  • Ubiquitinated by PRKN during mitophagy, leading to its degradation and enhancement of mitophagy. Deubiquitinated by USP30.
  • Ubiquitination at Lys271, Lys273, Lys284, Lys307, Lys314, Lys334, Lys340, Lys348, Lys351, Lys352, and Lys249
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for FKBP8 Gene

Domains & Families for FKBP8 Gene

Gene Families for FKBP8 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for FKBP8 Gene

Suggested Antigen Peptide Sequences for FKBP8 Gene

GenScript: Design optimal peptide antigens:
  • Rotamase (FKBP8_HUMAN)
genes like me logo Genes that share domains with FKBP8: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FKBP8 Gene

Function for FKBP8 Gene

Molecular function for FKBP8 Gene

UniProtKB/Swiss-Prot Function:
Constitutively inactive PPiase, which becomes active when bound to calmodulin and calcium. Seems to act as a chaperone for BCL2, targets it to the mitochondria and modulates its phosphorylation state. The BCL2/FKBP8/calmodulin/calcium complex probably interferes with the binding of BCL2 to its targets. The active form of FKBP8 may therefore play a role in the regulation of apoptosis.
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; Evidence=. ;.

Enzyme Numbers (IUBMB) for FKBP8 Gene

Phenotypes From GWAS Catalog for FKBP8 Gene

Gene Ontology (GO) - Molecular Function for FKBP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003755 peptidyl-prolyl cis-trans isomerase activity IEA --
GO:0005515 protein binding IEA,IPI 16844119
GO:0016853 isomerase activity IEA --
GO:0042802 identical protein binding IPI 17024179
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FKBP8: view
genes like me logo Genes that share phenotypes with FKBP8: view

Animal Models for FKBP8 Gene

MGI Knock Outs for FKBP8:

Animal Model Products

CRISPR Products

miRNA for FKBP8 Gene

miRTarBase miRNAs that target FKBP8

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FKBP8

Clone Products

  • Addgene plasmids for FKBP8

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FKBP8 Gene

Localization for FKBP8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FKBP8 Gene

Mitochondrion. Mitochondrion membrane; Single-pass membrane protein; Cytoplasmic side.
Isoform 1: Mitochondrion membrane; Single-pass membrane protein; Cytoplasmic side.
Isoform 3: Mitochondrion membrane; Single-pass membrane protein; Cytoplasmic side.

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 FKBP8 gene
Compartment Confidence
mitochondrion 5
cytosol 5
endoplasmic reticulum 4
plasma membrane 1
peroxisome 1
nucleus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Endoplasmic reticulum (3)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FKBP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA --
GO:0005740 mitochondrial envelope IEA --
GO:0005783 endoplasmic reticulum IDA --
GO:0005829 cytosol IDA --
GO:0016020 membrane HDA,IEA 19946888
genes like me logo Genes that share ontologies with FKBP8: view

Pathways & Interactions for FKBP8 Gene

genes like me logo Genes that share pathways with FKBP8: view

SIGNOR curated interactions for FKBP8 Gene

Inactivates:
Is inactivated by:

Gene Ontology (GO) - Biological Process for FKBP8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000413 protein peptidyl-prolyl isomerization IEA --
GO:0001708 cell fate specification IEA --
GO:0001933 negative regulation of protein phosphorylation IMP 15733859
GO:0006915 apoptotic process IEA --
GO:0007224 smoothened signaling pathway IEA --
genes like me logo Genes that share ontologies with FKBP8: view

Drugs & Compounds for FKBP8 Gene

(2) Drugs for FKBP8 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7773
genes like me logo Genes that share compounds with FKBP8: view

Transcripts for FKBP8 Gene

mRNA/cDNA for FKBP8 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FKBP8

Clone Products

  • Addgene plasmids for FKBP8

Alternative Splicing Database (ASD) splice patterns (SP) for FKBP8 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c
SP1:
SP2:
SP3: -

Relevant External Links for FKBP8 Gene

GeneLoc Exon Structure for
FKBP8
ECgene alternative splicing isoforms for
FKBP8

Expression for FKBP8 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FKBP8 Gene

mRNA differential expression in normal tissues according to GTEx for FKBP8 Gene

This gene is overexpressed in Whole Blood (x14.9).

Protein differential expression in normal tissues from HIPED for FKBP8 Gene

This gene is overexpressed in Breast (53.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FKBP8 Gene



Protein tissue co-expression partners for FKBP8 Gene

NURSA nuclear receptor signaling pathways regulating expression of FKBP8 Gene:

FKBP8

SOURCE GeneReport for Unigene cluster for FKBP8 Gene:

Hs.173464

mRNA Expression by UniProt/SwissProt for FKBP8 Gene:

Q14318-FKBP8_HUMAN
Tissue specificity: Widely expressed. Highest levels seen in the brain. Highly abundant in the retina.

Evidence on tissue expression from TISSUES for FKBP8 Gene

  • Eye(4.7)
  • Pancreas(4.7)
  • Nervous system(4.6)
  • Intestine(4.4)
  • Liver(4.4)
  • Lung(3.9)
  • Skin(2.5)
  • Muscle(2.3)
  • Gall bladder(2.1)
  • Kidney(2.1)
  • Bone marrow(2)
genes like me logo Genes that share expression patterns with FKBP8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for FKBP8 Gene

Orthologs for FKBP8 Gene

This gene was present in the common ancestor of animals.

Orthologs for FKBP8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FKBP8 33 32
  • 99.6 (n)
OneToOne
cow
(Bos Taurus)
Mammalia -- 33
  • 92 (a)
OneToMany
FKBP8 33 32
  • 90.66 (n)
OneToMany
dog
(Canis familiaris)
Mammalia FKBP8 33 32
  • 89.64 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Fkbp8 17 33 32
  • 86.68 (n)
rat
(Rattus norvegicus)
Mammalia Fkbp8 32
  • 86.19 (n)
oppossum
(Monodelphis domestica)
Mammalia FKBP8 33
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves FKBP8 33 32
  • 72.44 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FKBP8 33
  • 47 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fkbp8 32
  • 62.49 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.32522 32
zebrafish
(Danio rerio)
Actinopterygii fkbp8 33 32
  • 62.52 (n)
OneToOne
zgc77672 32
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.13422 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006615 32
  • 49.62 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG5482 33 34 32
  • 47.93 (n)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 37 (a)
OneToOne
Species where no ortholog for FKBP8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • 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)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FKBP8 Gene

ENSEMBL:
Gene Tree for FKBP8 (if available)
TreeFam:
Gene Tree for FKBP8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FKBP8: view image

Paralogs for FKBP8 Gene

(5) SIMAP similar genes for FKBP8 Gene using alignment to 10 proteins:

  • FKBP8_HUMAN
  • J3KQ73_HUMAN
  • M0R1Q0_HUMAN
  • M0R1S6_HUMAN
  • M0R2K9_HUMAN
  • M0R2Q6_HUMAN
  • M0R304_HUMAN
  • U3KQ64_HUMAN
  • U3KQI1_HUMAN
  • V9GZ05_HUMAN

Pseudogenes.org Pseudogenes for FKBP8 Gene

genes like me logo Genes that share paralogs with FKBP8: view

Variants for FKBP8 Gene

Sequence variations from dbSNP and Humsavar for FKBP8 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000577323 -- 18,539,096(-) A/G intron_variant
rs1001120857 -- 18,533,492(-) A/G intron_variant
rs1001215082 -- 18,541,218(-) C/G/T intron_variant
rs1001324498 -- 18,535,661(-) T/C intron_variant
rs1001682881 -- 18,535,812(-) G/A intron_variant

Structural Variations from Database of Genomic Variants (DGV) for FKBP8 Gene

Variant ID Type Subtype PubMed ID
nsv1055794 CNV gain 25217958
nsv1061733 CNV gain 25217958
nsv1071921 CNV deletion 25765185
nsv833776 CNV loss 17160897
nsv952421 CNV deletion 24416366

Variation tolerance for FKBP8 Gene

Residual Variation Intolerance Score: 15.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.78; 58.09% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FKBP8 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
FKBP8

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FKBP8 Gene

Disorders for FKBP8 Gene

MalaCards: The human disease database

(1) MalaCards diseases for FKBP8 Gene - From: GeneCards

Disorder Aliases PubMed IDs
hepatitis c virus
  • hepatitis c virus, susceptibility to
- elite association - COSMIC cancer census association via MalaCards
Search FKBP8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for FKBP8

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 FKBP8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for FKBP8 Gene

Publications for FKBP8 Gene

  1. Isolation of a cDNA encoding a novel human FK506-binding protein homolog containing leucine zipper and tetratricopeptide repeat motifs. (PMID: 7543869) Lam E … Wiederrecht G (Gene 1995) 2 3 4 23 56
  2. Characterization of a Bcl-XL-interacting protein FKBP8 and its splice variant in human RPE cells. (PMID: 18385096) Chen Y … Cai J (Investigative ophthalmology & visual science 2008) 3 4 23 56
  3. Bcl-2 regulator FKBP38 is activated by Ca2+/calmodulin. (PMID: 15990872) Edlich F … Fischer G (The EMBO journal 2005) 3 4 23 56
  4. Inherent calcineurin inhibitor FKBP38 targets Bcl-2 to mitochondria and inhibits apoptosis. (PMID: 12510191) Shirane M … Nakayama KI (Nature cell biology 2003) 3 4 23 56
  5. A charge-sensitive loop in the FKBP38 catalytic domain modulates Bcl-2 binding. (PMID: 20140889) Maestre-Martínez M … Lücke C (Journal of molecular recognition : JMR 2011) 3 4 56

Products for FKBP8 Gene

Sources for FKBP8 Gene