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Aliases for FKBP6 Gene

Aliases for FKBP6 Gene

  • FK506 Binding Protein 6 2 3 5
  • Immunophilin FKBP36 2 3 4
  • FK506 Binding Protein 6, 36kDa 2 3
  • Inactive PPIase FKBP6 3 4
  • 36 KDa FKBP 3 4
  • Rotamase 2 3
  • FKBP36 3 4
  • Peptidyl-Prolyl Cis-Trans Isomerase FKBP6 3
  • Peptidylprolyl Cis-Trans Isomerase 2
  • FK506 Binding Protein 6 (36kD) 2
  • FK506-Binding Protein 6 (36kD) 2
  • 36 KDa FK506-Binding Protein 4
  • FK506-Binding Protein 6 4
  • PPIase FKBP6 3
  • FKBP-36 4
  • FKBP-6 4

External Ids for FKBP6 Gene

Previous GeneCards Identifiers for FKBP6 Gene

  • GC07P071382
  • GC07P072140
  • GC07P072154
  • GC07P071886
  • GC07P072078
  • GC07P072380
  • GC07P072742
  • GC07P068623

Summaries for FKBP6 Gene

Entrez Gene Summary for FKBP6 Gene

  • 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 Williams-Beuren syndrome. Defects in this gene may cause male infertility. There are multiple pseudogenes for this gene located nearby on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]

GeneCards Summary for FKBP6 Gene

FKBP6 (FK506 Binding Protein 6) is a Protein Coding gene. Diseases associated with FKBP6 include williams-beuren syndrome and azoospermia. Among its related pathways are Gene Expression and Mitotic Prophase. GO annotations related to this gene include peptidyl-prolyl cis-trans isomerase activity and FK506 binding. An important paralog of this gene is FKBP1A.

UniProtKB/Swiss-Prot for FKBP6 Gene

  • Co-chaperone required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Acts as a co-chaperone via its interaction with HSP90 and is required for the piRNA amplification process, the secondary piRNA biogenesis. May be required together with HSP90 in removal of 16 nucleotide ping-pong by-products from Piwi complexes, possibly facilitating turnover of Piwi complexes (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FKBP6 Gene

Genomics for FKBP6 Gene

Regulatory Elements for FKBP6 Gene

Genomic Location for FKBP6 Gene

Chromosome:
7
Start:
73,328,152 bp from pter
End:
73,358,637 bp from pter
Size:
30,486 bases
Orientation:
Plus strand

Genomic View for FKBP6 Gene

Genes around FKBP6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FKBP6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FKBP6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FKBP6 Gene

Proteins for FKBP6 Gene

  • Protein details for FKBP6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O75344-FKBP6_HUMAN
    Recommended name:
    Inactive peptidyl-prolyl cis-trans isomerase FKBP6
    Protein Accession:
    O75344
    Secondary Accessions:
    • B4DXT7
    • G3V0I2
    • Q7Z4T4
    • Q9UDS0

    Protein attributes for FKBP6 Gene

    Size:
    327 amino acids
    Molecular mass:
    37214 Da
    Quaternary structure:
    • Interacts (via TPR repeats) with HSP90 (By similarity). Interacts with HSP72/HSPA2 and CLTC. Interacts with GAPDH; leading to inhibit GAPDH catalytic activity.

    Three dimensional structures from OCA and Proteopedia for FKBP6 Gene

    Alternative splice isoforms for FKBP6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FKBP6 Gene

Proteomics data for FKBP6 Gene at MOPED

Post-translational modifications for FKBP6 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for FKBP6 Gene

Domains & Families for FKBP6 Gene

Gene Families for FKBP6 Gene

Protein Domains for FKBP6 Gene

Suggested Antigen Peptide Sequences for FKBP6 Gene

Graphical View of Domain Structure for InterPro Entry

O75344

UniProtKB/Swiss-Prot:

FKBP6_HUMAN :
  • Contains 1 PPIase FKBP-type domain.
  • Belongs to the FKBP6 family.
  • Contains 3 TPR repeats.
Domain:
  • Contains 1 PPIase FKBP-type domain.
Family:
  • Belongs to the FKBP6 family.
Similarity:
  • Contains 3 TPR repeats.
genes like me logo Genes that share domains with FKBP6: view

Function for FKBP6 Gene

Molecular function for FKBP6 Gene

GENATLAS Biochemistry:
FK506-binding protein6,T cell binding protein FKBP for the immunosuppressive agents FK506-rapamycin expressed in testis,heart,skeletal muscle,liver and kidney,deleted in Williams syndrome
UniProtKB/Swiss-Prot Function:
Co-chaperone required during spermatogenesis to repress transposable elements and prevent their mobilization, which is essential for the germline integrity. Acts via the piRNA metabolic process, which mediates the repression of transposable elements during meiosis by forming complexes composed of piRNAs and Piwi proteins and govern the methylation and subsequent repression of transposons. Acts as a co-chaperone via its interaction with HSP90 and is required for the piRNA amplification process, the secondary piRNA biogenesis. May be required together with HSP90 in removal of 16 nucleotide ping-pong by-products from Piwi complexes, possibly facilitating turnover of Piwi complexes (By similarity).

Gene Ontology (GO) - Molecular Function for FKBP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003755 NOT peptidyl-prolyl cis-trans isomerase activity ISS,IBA --
genes like me logo Genes that share ontologies with FKBP6: view
genes like me logo Genes that share phenotypes with FKBP6: view

Animal Models for FKBP6 Gene

MGI Knock Outs for FKBP6:

Animal Model Products

miRNA for FKBP6 Gene

miRTarBase miRNAs that target FKBP6

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for FKBP6 Gene

Localization for FKBP6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FKBP6 Gene

Cytoplasm, cytosol. Nucleus. Chromosome. Note=Does not localize to pi-bodies. Localizes to meiotic chromosome cores and regions of homologous chromosome synapsis (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for FKBP6 Gene COMPARTMENTS Subcellular localization image for FKBP6 gene
Compartment Confidence
cytosol 2
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for FKBP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IBA --
genes like me logo Genes that share ontologies with FKBP6: view

Pathways & Interactions for FKBP6 Gene

genes like me logo Genes that share pathways with FKBP6: view

Pathways by source for FKBP6 Gene

Gene Ontology (GO) - Biological Process for FKBP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000413 protein peptidyl-prolyl isomerization IEA --
GO:0007283 spermatogenesis IEA,ISS --
GO:0018208 peptidyl-proline modification IEA --
GO:0031047 gene silencing by RNA IEA,ISS --
GO:0034587 piRNA metabolic process IEA,ISS --
genes like me logo Genes that share ontologies with FKBP6: view

No data available for SIGNOR curated interactions for FKBP6 Gene

Drugs & Compounds for FKBP6 Gene

No Compound Related Data Available

Transcripts for FKBP6 Gene

Unigene Clusters for FKBP6 Gene

FK506 binding protein 6, 36kDa:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for FKBP6 Gene

No ASD Table

Relevant External Links for FKBP6 Gene

GeneLoc Exon Structure for
FKBP6
ECgene alternative splicing isoforms for
FKBP6

Expression for FKBP6 Gene

mRNA expression in normal human tissues for FKBP6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for FKBP6 Gene

This gene is overexpressed in Testis (x43.1).

Protein differential expression in normal tissues from HIPED for FKBP6 Gene

This gene is overexpressed in Testis (46.5) and Pancreatic juice (22.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for FKBP6 Gene



SOURCE GeneReport for Unigene cluster for FKBP6 Gene Hs.661266

mRNA Expression by UniProt/SwissProt for FKBP6 Gene

O75344-FKBP6_HUMAN
Tissue specificity: Detected in all tissues examined, with higher expression in testis, heart, skeletal muscle, liver, and kidney.
genes like me logo Genes that share expression patterns with FKBP6: view

Protein tissue co-expression partners for FKBP6 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for FKBP6 Gene

This gene was present in the common ancestor of animals.

Orthologs for FKBP6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FKBP6 36
  • 99 (a)
OneToOne
FKBP6 35
  • 99.49 (n)
  • 99.39 (a)
cow
(Bos Taurus)
Mammalia FKBP6 35
  • 87.65 (n)
  • 89.46 (a)
FKBP6 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia FKBP6 36
  • 89 (a)
OneToOne
FKBP6 35
  • 87.67 (n)
  • 89.3 (a)
mouse
(Mus musculus)
Mammalia Fkbp6 16
Fkbp6 36
  • 82 (a)
OneToOne
Fkbp6 35
  • 83.17 (n)
  • 86.97 (a)
oppossum
(Monodelphis domestica)
Mammalia FKBP6 36
  • 57 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FKBP6 36
  • 67 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Fkbp6 35
  • 81.98 (n)
  • 87.95 (a)
chicken
(Gallus gallus)
Aves FKBP6 35
  • 67.68 (n)
  • 67.05 (a)
FKBP6 36
  • 59 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FKBP6 36
  • 54 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.19529 35
tropical clawed frog
(Silurana tropicalis)
Amphibia fkbp6 35
  • 62.05 (n)
  • 65.2 (a)
MGC75868 35
zebrafish
(Danio rerio)
Actinopterygii Dr.26596 35
fkbp6 35
  • 59.51 (n)
  • 53.69 (a)
fkbp6 36
  • 47 (a)
OneToMany
FKBP6 (2 of 2) 36
  • 53 (a)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011458 35
  • 43.05 (n)
  • 28.47 (a)
fruit fly
(Drosophila melanogaster)
Insecta shu 35
  • 45.12 (n)
  • 29.63 (a)
shu 36
  • 20 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10595 36
  • 33 (a)
OneToOne
Species with no ortholog for FKBP6:
  • 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 FKBP6 Gene

ENSEMBL:
Gene Tree for FKBP6 (if available)
TreeFam:
Gene Tree for FKBP6 (if available)

Paralogs for FKBP6 Gene

Paralogs for FKBP6 Gene

(5) SIMAP similar genes for FKBP6 Gene using alignment to 5 proteins:

Pseudogenes.org Pseudogenes for FKBP6 Gene

genes like me logo Genes that share paralogs with FKBP6: view

Variants for FKBP6 Gene

Sequence variations from dbSNP and Humsavar for FKBP6 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
VAR_070840 -
rs757937 -- 73,336,157(-) TCTTA(A/G)TATCA intron-variant
rs757941 -- 73,342,335(-) TGGAC(C/T)GAATG intron-variant
rs1178965 -- 73,359,088(-) GGGGT(A/G)CAGGA downstream-variant-500B
rs1178966 -- 73,359,075(-) GTGAG(A/G)TGGCC downstream-variant-500B

Structural Variations from Database of Genomic Variants (DGV) for FKBP6 Gene

Variant ID Type Subtype PubMed ID
dgv2095e1 CNV Complex 17122850
nsv520573 CNV Gain+Loss 19592680
esv34349 CNV Gain 17911159
dgv2099e1 CNV Complex 17122850
nsv888362 CNV Gain 21882294
nsv831027 CNV Loss 17160897
dgv7324n71 CNV Gain 21882294

Variation tolerance for FKBP6 Gene

Residual Variation Intolerance Score: 67.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.72; 32.68% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for FKBP6 Gene

HapMap Linkage Disequilibrium report
FKBP6
Human Gene Mutation Database (HGMD)
FKBP6

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FKBP6 Gene

Disorders for FKBP6 Gene

MalaCards: The human disease database

(5) MalaCards diseases for FKBP6 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
azoospermia
  • spermatogenic failure
aortic valve disease 2
  • aortic valve stenosis
diabetes mellitus, transient neonatal, 1
  • diabetes mellitus, transient neonatal
aortic valve disease 1
  • aortic valve disease 2
- elite association - COSMIC cancer census association via MalaCards
Search FKBP6 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FKBP6_HUMAN
  • Note=FKBP6 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of FKBP6 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease (PubMed:9782077). A father and son with Williams-Beuren syndrome appear to have a common heterozygous deletion that includes FKBP6 gene. However, the haploinsufficiency for FKBP6 does not appear to preclude male fertility (PubMed:15770126). {ECO:0000269 PubMed:15770126, ECO:0000269 PubMed:9782077}.
  • Note=Defects in FKBP6 may be a cause of azoospermia. A study based on 323 patients with azoospermia or severe oligozoospermia suggested an association between FKBP6 variants and azoospermia (PubMed:17307919). However, other studies suggest that defects in FKBP6 are not a common cause of non-obstructive azoospermia (PubMed:16227348). {ECO:0000269 PubMed:16227348, ECO:0000269 PubMed:17307919}.

Relevant External Links for FKBP6

Genetic Association Database (GAD)
FKBP6
Human Genome Epidemiology (HuGE) Navigator
FKBP6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
FKBP6
genes like me logo Genes that share disorders with FKBP6: view

No data available for Genatlas for FKBP6 Gene

Publications for FKBP6 Gene

  1. A novel human gene FKBP6 is deleted in Williams syndrome. (PMID: 9782077) Meng X. … Keating M.T. (Genomics 1998) 2 3 4 23 67
  2. FKBP36 is an inherent multifunctional glyceraldehyde-3-phosphate dehydrogenase inhibitor. (PMID: 19001379) Jarczowski F. … Edlich F. (J. Biol. Chem. 2009) 2 3
  3. Is a genetic defect in Fkbp6 a common cause of azoospermia in humans? (PMID: 16983454) Miyamato T. … Sengoku K. (Cell. Mol. Biol. Lett. 2006) 3 23
  4. Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6. (PMID: 15770126) Metcalfe K. … Tassabehji M. (Clin. Dysmorphol. 2005) 3 23
  5. Mutations in the chromosome pairing gene FKBP6 are not a common cause of non-obstructive azoospermia. (PMID: 16227348) Westerveld G.H. … van der Veen F. (Mol. Hum. Reprod. 2005) 3 23

Products for FKBP6 Gene

Sources for FKBP6 Gene

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