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Aliases for FKBP10 Gene

Aliases for FKBP10 Gene

  • FK506 Binding Protein 10 2 3 5
  • FK506 Binding Protein 10, 65 KDa 2 3
  • 65 KDa FK506-Binding Protein 3 4
  • Immunophilin FKBP65 3 4
  • PPIase FKBP10 3 4
  • 65 KDa FKBP 3 4
  • EC 5.2.1.8 4 56
  • Rotamase 3 4
  • FKBP-10 3 4
  • FKBP-65 3 4
  • FKBP65 3 4
  • Peptidyl-Prolyl Cis-Trans Isomerase FKBP10 3
  • FK506 Binding Protein 10 (65 KDa) 2
  • FK506-Binding Protein 10 4
  • HFKBP65 3
  • PPIASE 3
  • BRKS1 3
  • OI11 3
  • OI6 3

External Ids for FKBP10 Gene

Previous GeneCards Identifiers for FKBP10 Gene

  • GC17P039525
  • GC17P042056
  • GC17P039877
  • GC17P040342
  • GC17P037222
  • GC17P039968
  • GC17P035730

Summaries for FKBP10 Gene

Entrez Gene Summary for FKBP10 Gene

  • The protein encoded by this gene belongs to the FKBP-type peptidyl-prolyl cis/trans isomerase (PPIase) family. This protein localizes to the endoplasmic reticulum and acts as a molecular chaperone. Alternatively spliced variants encoding different isoforms have been reported, but their biological validity has not been determined.[provided by RefSeq, Nov 2009]

GeneCards Summary for FKBP10 Gene

FKBP10 (FK506 Binding Protein 10) is a Protein Coding gene. Diseases associated with FKBP10 include Bruck Syndrome 1 and Osteogenesis Imperfecta, Type Xi. Gene Ontology (GO) annotations related to this gene include calcium ion binding and FK506 binding. An important paralog of this gene is FKBP9.

UniProtKB/Swiss-Prot for FKBP10 Gene

  • PPIases accelerate the folding of proteins during protein synthesis.

Gene Wiki entry for FKBP10 Gene

Additional gene information for FKBP10 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FKBP10 Gene

Genomics for FKBP10 Gene

GeneHancer (GH) Regulatory Elements for FKBP10 Gene

Promoters and enhancers for FKBP10 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
GH17I041810 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 564.1 +0.6 550 4.4 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF213 ZNF302 ZNF207 P3H4 FKBP10 PIR33798 DHX58 NT5C3B CNTD1 CAVIN1 RETREG3 KAT2A HSD17B1
GH17I042565 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.3 +755.2 755176 3.4 HDGF SMAD1 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 MLX CNTNAP1 TUBG2 CAVIN1 FKBP10 ENSG00000259623 VAT1 ENSG00000267765 RPL27 HSD17B1P1
GH17I042772 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 13.5 +962.2 962152 4 MLX ZFP64 DMAP1 IRF4 YY1 SLC30A9 ZNF213 E2F8 ZNF143 SP3 VPS25 HMGN1P29 DHX8 ENSG00000267758 LINC00910 HMGN2P15 NBR2 NKIRAS2 CNTNAP1 MEOX1
GH17I041687 Promoter/Enhancer 2.5 EPDnew Ensembl ENCODE dbSUPER 10.4 -121.9 -121863 6.1 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 EIF1 GC17P041691 GC17P041692 ENSG00000267758 ENSG00000259623 KLHL10 CNTNAP1 NT5C3B STAT5A CCR10
GH17I042672 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 9.7 +866.4 866436 11.4 MLX ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF213 ZNF143 ZNF263 SP3 CNTNAP1 CCR10 PLEKHH3 ENSG00000267042 TUBG2 HSD17B1P1 ENSG00000267002 HMGN1P29 HMGN2P15 ENSG00000259623
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FKBP10 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FKBP10 gene promoter:

Genomic Locations for FKBP10 Gene

Genomic Locations for FKBP10 Gene
chr17:41,812,262-41,823,217
(GRCh38/hg38)
Size:
10,956 bases
Orientation:
Plus strand
chr17:39,968,932-39,979,469
(GRCh37/hg19)

Genomic View for FKBP10 Gene

Genes around FKBP10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FKBP10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FKBP10 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FKBP10 Gene

Proteins for FKBP10 Gene

  • Protein details for FKBP10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96AY3-FKB10_HUMAN
    Recommended name:
    Peptidyl-prolyl cis-trans isomerase FKBP10
    Protein Accession:
    Q96AY3
    Secondary Accessions:
    • Q7Z3R4
    • Q9H3N3
    • Q9H6J3
    • Q9H6N5
    • Q9UF89

    Protein attributes for FKBP10 Gene

    Size:
    582 amino acids
    Molecular mass:
    64245 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB15220.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=CAD97695.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for FKBP10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FKBP10 Gene

Selected DME Specific Peptides for FKBP10 Gene

Q96AY3:
  • RYHYNGT
  • HVIDFHNP
  • PPFLAYGE
  • GKKFDSS
  • DGTLFDSS
  • LIVPPHL
  • DFVRYHY
  • PPHLGYG

Post-translational modifications for FKBP10 Gene

  • Glycosylated and phosphorylated.
  • Glycosylation at Ser35, Asn70, Asn182, Asn294, posLast=310310, posLast=352352, Asn393, and posLast=407407

Other Protein References for FKBP10 Gene

Domains & Families for FKBP10 Gene

Gene Families for FKBP10 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for FKBP10 Gene

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FKBP10: view

No data available for UniProtKB/Swiss-Prot for FKBP10 Gene

Function for FKBP10 Gene

Molecular function for FKBP10 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Peptidylproline (omega=180) = peptidylproline (omega=0).
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by both FK506 and rapamycin, but not by cyclosporin A.
UniProtKB/Swiss-Prot Function:
PPIases accelerate the folding of proteins during protein synthesis.

Enzyme Numbers (IUBMB) for FKBP10 Gene

Phenotypes From GWAS Catalog for FKBP10 Gene

Gene Ontology (GO) - Molecular Function for FKBP10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003755 peptidyl-prolyl cis-trans isomerase activity IBA,IEA --
GO:0005509 calcium ion binding IEA --
GO:0005528 FK506 binding IBA --
GO:0016853 isomerase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FKBP10: view
genes like me logo Genes that share phenotypes with FKBP10: view

Human Phenotype Ontology for FKBP10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FKBP10 Gene

MGI Knock Outs for FKBP10:

Animal Model Products

CRISPR Products

miRNA for FKBP10 Gene

Inhibitory RNA Products

No data available for Transcription Factor Targets and HOMER Transcription for FKBP10 Gene

Localization for FKBP10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FKBP10 Gene

Endoplasmic reticulum lumen.

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 FKBP10 gene
Compartment Confidence
endoplasmic reticulum 4
extracellular 3
nucleus 2
peroxisome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for FKBP10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005730 nucleolus IEA --
GO:0005737 cytoplasm IBA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen IEA --
genes like me logo Genes that share ontologies with FKBP10: view

Pathways & Interactions for FKBP10 Gene

SuperPathways for FKBP10 Gene

No Data Available

Gene Ontology (GO) - Biological Process for FKBP10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000412 histone peptidyl-prolyl isomerization IEA --
GO:0000413 protein peptidyl-prolyl isomerization IEA --
GO:0018208 peptidyl-proline modification IEA --
GO:0061077 chaperone-mediated protein folding IBA --
genes like me logo Genes that share ontologies with FKBP10: view

No data available for Pathways by source and SIGNOR curated interactions for FKBP10 Gene

Drugs & Compounds for FKBP10 Gene

No Compound Related Data Available

Transcripts for FKBP10 Gene

Unigene Clusters for FKBP10 Gene

FK506 binding protein 10, 65 kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FKBP10 Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14 ^ 15a · 15b ^ 16a ·
SP1: - - - - - -
SP2: - - - - -
SP3: - - - -
SP4: - - -
SP5:
SP6: - -
SP7: -
SP8: - -
SP9: - - - -
SP10:
SP11:
SP12:

ExUns: 16b · 16c ^ 17
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -
SP12:

Relevant External Links for FKBP10 Gene

GeneLoc Exon Structure for
FKBP10
ECgene alternative splicing isoforms for
FKBP10

Expression for FKBP10 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FKBP10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FKBP10 Gene

This gene is overexpressed in Bone marrow stromal cell (31.2) and Liver (10.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FKBP10 Gene



Protein tissue co-expression partners for FKBP10 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FKBP10 Gene:

FKBP10

SOURCE GeneReport for Unigene cluster for FKBP10 Gene:

Hs.463035

Evidence on tissue expression from TISSUES for FKBP10 Gene

  • Nervous system(4.8)
  • Liver(4.2)
  • Skin(3.5)
  • Kidney(3)
  • Lung(2.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FKBP10 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • biliary tract
  • intestine
  • kidney
  • liver
  • stomach
Pelvis:
  • pelvis
  • ureter
  • uterus
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with FKBP10: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FKBP10 Gene

Orthologs for FKBP10 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for FKBP10 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FKBP10 33 34
  • 99.48 (n)
dog
(Canis familiaris)
Mammalia FKBP10 33 34
  • 90.44 (n)
cow
(Bos Taurus)
Mammalia FKBP10 33 34
  • 90.09 (n)
oppossum
(Monodelphis domestica)
Mammalia FKBP10 34
  • 87 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fkbp10 33 16 34
  • 86.06 (n)
rat
(Rattus norvegicus)
Mammalia Fkbp10 33
  • 85.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FKBP10 34
  • 76 (a)
OneToOne
chicken
(Gallus gallus)
Aves FKBP10 33 34
  • 77.58 (n)
lizard
(Anolis carolinensis)
Reptilia FKBP10 34
  • 75 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fkbp10 33
  • 70.1 (n)
Str.2813 33
African clawed frog
(Xenopus laevis)
Amphibia LOC398175 33
zebrafish
(Danio rerio)
Actinopterygii fkbp10b 33 34
  • 61.45 (n)
fkbp10a 34
  • 57 (a)
OneToMany
Dr.3212 33
fruit fly
(Drosophila melanogaster)
Insecta CG14715 34
  • 41 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea fkb-3 34
  • 29 (a)
ManyToMany
fkb-4 34
  • 29 (a)
ManyToMany
fkb-5 34
  • 28 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FPR2 34
  • 39 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.5986 34
  • 42 (a)
OneToMany
Species where no ortholog for FKBP10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • 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)
  • 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)

Evolution for FKBP10 Gene

ENSEMBL:
Gene Tree for FKBP10 (if available)
TreeFam:
Gene Tree for FKBP10 (if available)

Paralogs for FKBP10 Gene

Paralogs for FKBP10 Gene

Pseudogenes.org Pseudogenes for FKBP10 Gene

genes like me logo Genes that share paralogs with FKBP10: view

Variants for FKBP10 Gene

Sequence variations from dbSNP and Humsavar for FKBP10 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1043002 benign, Osteogenesis Imperfecta, Recessive 41,822,810(+) T/A 3_prime_UTR_variant
rs1043005 benign, Osteogenesis Imperfecta, Recessive 41,822,829(+) C/G 3_prime_UTR_variant
rs1043007 benign, Osteogenesis Imperfecta, Recessive 41,822,830(+) C/G 3_prime_UTR_variant
rs114199361 benign, likely-benign, not specified, Osteogenesis Imperfecta, Recessive, not provided 41,821,650(+) C/G intron_variant
rs114527140 uncertain-significance, Osteogenesis Imperfecta, Recessive 41,812,768(+) G/A/T 5_prime_UTR_variant, genic_upstream_transcript_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for FKBP10 Gene

Variant ID Type Subtype PubMed ID
nsv833447 CNV loss 17160897
nsv1146669 OTHER inversion 26484159
nsv1060502 CNV gain 25217958
esv2715941 CNV deletion 23290073
dgv3174n100 CNV gain 25217958

Variation tolerance for FKBP10 Gene

Residual Variation Intolerance Score: 9.48% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.20; 39.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FKBP10 Gene

Human Gene Mutation Database (HGMD)
FKBP10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FKBP10

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FKBP10 Gene

Disorders for FKBP10 Gene

MalaCards: The human disease database

(9) MalaCards diseases for FKBP10 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
bruck syndrome 1
  • brks1
osteogenesis imperfecta, type xi
  • oi11
osteogenesis imperfecta, type xii
  • oi12
bruck syndrome
  • osteogenesis imperfecta with congenital joint contractures
osteogenesis imperfecta, type iii
  • oi3
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

FKB10_HUMAN
  • Bruck syndrome 1 (BRKS1) [MIM:259450]: A disease characterized by generalized osteopenia, congenital joint contractures, fragile bones with onset of fractures in infancy or early childhood, short stature, severe limb deformity, progressive scoliosis, and pterygia. {ECO:0000269 PubMed:20839288, ECO:0000269 PubMed:22949511}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Osteogenesis imperfecta 11 (OI11) [MIM:610968]: A form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI11 is an autosomal recessive form. {ECO:0000269 PubMed:20362275, ECO:0000269 PubMed:20839288, ECO:0000269 PubMed:22949511}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FKBP10

genes like me logo Genes that share disorders with FKBP10: view

No data available for Genatlas for FKBP10 Gene

Publications for FKBP10 Gene

  1. The rough endoplasmic reticulum-resident FK506-binding protein FKBP65 is a molecular chaperone that interacts with collagens. (PMID: 18786928) Ishikawa Y … Bächinger HP (The Journal of biological chemistry 2008) 2 3 22 58
  2. Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen. (PMID: 22949511) Schwarze U … Byers PH (Human molecular genetics 2013) 3 4 58
  3. Mutations in FKBP10 cause recessive osteogenesis imperfecta and Bruck syndrome. (PMID: 20839288) Kelley BP … Lee B (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2011) 3 4 58
  4. Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta. (PMID: 20362275) Alanay Y … Krakow D (American journal of human genetics 2010) 3 4 58
  5. Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries. (PMID: 16303743) Otsuki T … Isogai T (DNA research : an international journal for rapid publication of reports on genes and genomes 2005) 3 4 58

Products for FKBP10 Gene

Sources for FKBP10 Gene

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