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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
  • Inactive Peptidyl-Prolyl Cis-Trans Isomerase FKBP6 3
  • 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 Meiosis and Mitotic Prophase. Gene Ontology (GO) annotations related to this gene include peptidyl-prolyl cis-trans isomerase activity and FK506 binding. An important paralog of this gene is FKBP4.

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).

Additional gene information for FKBP6 Gene

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

Genomics for FKBP6 Gene

GeneHancer (GH) Regulatory Elements for FKBP6 Gene

Promoters and enhancers for FKBP6 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
GH07I073329 Promoter 0.7 EPDnew 550.8 -0.1 -58 0.1 ZNF202 ZBTB33 FKBP6 TRIM50 POM121 NSUN5P2 STAG3L3 POM121B METTL27 MIR590 TBL2 GTF2IRD2P1
GH07I073330 Promoter 0.7 EPDnew 550.8 +0.0 48 0.1 ZNF202 ZBTB33 FKBP6 TRIM50 POM121 NSUN5P2 STAG3L3 POM121B METTL27 MIR590 TBL2 GTF2IRD2P1
GH07I073328 Promoter 0.5 EPDnew 550.8 +0.2 192 0.1 TRIM50 FKBP6 RNU6-1080P GC07M073340
GH07I072827 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 33.1 -498.7 -498746 4.4 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 TYW1B PIR36920 SBDSP1 STAG3L3 POM121B TBL2 POM121 FKBP6 NSUN5P2 BUD23
GH07I073667 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 20 +339.9 339873 1.3 HDGF ARNT ARID4B SIN3A DMAP1 ZBTB7B E2F8 ZNF207 ZNF143 SP3 VPS37D STAG3L3 POM121B POM121 FKBP6 TBL2 BUD23 GTF2IRD2P1 NSUN5P2 MIR590
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FKBP6 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FKBP6 gene promoter:

Genomic Locations for FKBP6 Gene

Genomic Locations for FKBP6 Gene
chr7:73,328,152-73,358,637
(GRCh38/hg38)
Size:
30,486 bases
Orientation:
Plus strand
chr7:72,742,155-72,772,641
(GRCh37/hg19)

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

Post-translational modifications for FKBP6 Gene

No Post-translational modifications

No data available for DME Specific Peptides for FKBP6 Gene

Domains & Families for FKBP6 Gene

Gene Families for FKBP6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for FKBP6 Gene

Graphical View of Domain Structure for InterPro Entry

O75344

UniProtKB/Swiss-Prot:

FKBP6_HUMAN :
  • Belongs to the FKBP6 family.
Family:
  • Belongs to the FKBP6 family.
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).

Phenotypes From GWAS Catalog for FKBP6 Gene

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 IBA,ISS --
GO:0005515 protein binding IPI 16189514
GO:0005528 FK506 binding IEA,IBA --
GO:0016853 isomerase activity IEA --
GO:0042802 identical protein binding IPI 26567527
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:

Clone Products

  • Addgene plasmids for 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
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 FKBP6 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 1

Gene Ontology (GO) - Cellular Components for FKBP6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000795 synaptonemal complex IEA,ISS --
GO:0005634 nucleus IEA --
GO:0005694 chromosome IEA --
GO:0005737 cytoplasm ISS,IBA --
GO:0005829 cytosol ISS --
genes like me logo Genes that share ontologies with FKBP6: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FKBP6 Gene

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:0006457 protein folding ISS,IEA --
GO:0007283 spermatogenesis ISS --
GO:0018208 peptidyl-proline modification IEA --
GO:0030154 cell differentiation IEA --
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:

Clone Products

  • Addgene plasmids for FKBP6

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for FKBP6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FKBP6 Gene:

FKBP6

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.

Evidence on tissue expression from TISSUES for FKBP6 Gene

  • Nervous system(4.1)
  • Kidney(3.4)
genes like me logo Genes that share expression patterns with FKBP6: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for FKBP6 Gene

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 33 34
  • 99.49 (n)
dog
(Canis familiaris)
Mammalia FKBP6 33 34
  • 87.67 (n)
cow
(Bos Taurus)
Mammalia FKBP6 33 34
  • 87.65 (n)
mouse
(Mus musculus)
Mammalia Fkbp6 33 16 34
  • 83.17 (n)
rat
(Rattus norvegicus)
Mammalia Fkbp6 33
  • 81.98 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FKBP6 34
  • 67 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FKBP6 34
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves FKBP6 33 34
  • 67.68 (n)
lizard
(Anolis carolinensis)
Reptilia FKBP6 34
  • 54 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fkbp6 33
  • 62.05 (n)
MGC75868 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.19529 33
zebrafish
(Danio rerio)
Actinopterygii fkbp6 33 34
  • 59.51 (n)
FKBP6 (2 of 2) 34
  • 53 (a)
OneToMany
Dr.26596 33
fruit fly
(Drosophila melanogaster)
Insecta shu 33 34
  • 45.12 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011458 33
  • 43.05 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10595 34
  • 33 (a)
OneToOne
Species where no ortholog for FKBP6 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)
  • 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 Variation AA Info Type
rs1000207035 -- 73,339,813(+) A/G intron_variant
rs1000207468 -- 73,351,903(+) T/C genic_downstream_transcript_variant, intron_variant
rs1000372015 -- 73,333,077(+) G/C intron_variant
rs1000487636 -- 73,353,776(+) C/T genic_downstream_transcript_variant, intron_variant
rs1000585122 -- 73,348,335(+) G/C genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
dgv6466n100 CNV gain 25217958
esv2759537 CNV gain+loss 17122850
esv34349 CNV gain 17911159
esv3891145 CNV gain 25118596
nsv1023935 CNV gain 25217958
nsv520573 CNV gain+loss 19592680
nsv831027 CNV loss 17160897
nsv970878 CNV duplication 23825009

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)

Additional Variant Information for FKBP6 Gene

Human Gene Mutation Database (HGMD)
FKBP6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FKBP6

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

Disorders for FKBP6 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • wbs
azoospermia
  • spermatogenic failure
chromosome 17q12 deletion syndrome
  • 17q12 microdeletion syndrome
diabetes mellitus, transient neonatal, 1
  • tndm1
- 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=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}.
  • 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}.

Additional Disease Information for FKBP6

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 FKBP6: view

No data available for Genatlas for FKBP6 Gene

Publications for FKBP6 Gene

  1. Mutations in the chromosome pairing gene FKBP6 are not a common cause of non-obstructive azoospermia. (PMID: 16227348) Westerveld GH … van der Veen F (Molecular human reproduction 2005) 3 4 22 44 58
  2. A novel human gene FKBP6 is deleted in Williams syndrome. (PMID: 9782077) Meng X … Keating MT (Genomics 1998) 2 3 4 22 58
  3. FKBP36 is an inherent multifunctional glyceraldehyde-3-phosphate dehydrogenase inhibitor. (PMID: 19001379) Jarczowski F … Edlich F (The Journal of biological chemistry 2009) 2 3 4 58
  4. Mutation screening of the FKBP6 gene and its association study with spermatogenic impairment in idiopathic infertile men. (PMID: 17307919) Zhang W … Zhoucun A (Reproduction (Cambridge, England) 2007) 3 4 44 58
  5. Autosomal dominant inheritance of Williams-Beuren syndrome in a father and son with haploinsufficiency for FKBP6. (PMID: 15770126) Metcalfe K … Tassabehji M (Clinical dysmorphology 2005) 3 4 22 58

Products for FKBP6 Gene

Sources for FKBP6 Gene

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