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Aliases for FKBP14 Gene

Aliases for FKBP14 Gene

  • FK506 Binding Protein 14 2 3 5
  • FK506 Binding Protein 14, 22 KDa 2 3
  • 22 KDa FK506-Binding Protein 3 4
  • PPIase FKBP14 3 4
  • 22 KDa FKBP 3 4
  • Rotamase 3 4
  • FKBP-22 3 4
  • FKBP22 3 4
  • Peptidyl-Prolyl Cis-Trans Isomerase FKBP14 3
  • FK506 Binding Protein 14 (22 KDa) 2
  • FK506-Binding Protein 14 4
  • EC 5.2.1.8 4
  • EDSKSCL2 3
  • FKBP-14 4
  • EDSKMH 3
  • IPBP12 3

External Ids for FKBP14 Gene

Previous GeneCards Identifiers for FKBP14 Gene

  • GC07M029695
  • GC07M029795
  • GC07M029826
  • GC07M030019

Summaries for FKBP14 Gene

Entrez Gene Summary for FKBP14 Gene

  • The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012]

GeneCards Summary for FKBP14 Gene

FKBP14 (FK506 Binding Protein 14) is a Protein Coding gene. Diseases associated with FKBP14 include Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 and Muscular Dystrophy, Congenital, Lmna-Related. Among its related pathways are Unfolded Protein Response (UPR) and Metabolism of proteins. Gene Ontology (GO) annotations related to this gene include calcium ion binding and FK506 binding. An important paralog of this gene is FKBP7.

UniProtKB/Swiss-Prot for FKBP14 Gene

  • PPIases accelerate the folding of proteins during protein synthesis.

Additional gene information for FKBP14 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FKBP14 Gene

Genomics for FKBP14 Gene

GeneHancer (GH) Regulatory Elements for FKBP14 Gene

Promoters and enhancers for FKBP14 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
GH07I030025 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 -1.2 -1199 5.3 PKNOX1 FOXA2 SMAD1 MLX ZFP64 ARID4B NEUROD1 SIN3A DMAP1 ZBTB7B PLEKHA8 FKBP14 SCRN1 ENSG00000226874 ENSG00000263683 LOC105375215 DKFZP586I1420 ENSG00000231519
GH07I030593 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 13.1 -569.4 -569353 5.6 CLOCK MLX ZFP64 DMAP1 YY1 ZNF213 E2F8 ZNF143 ZNF263 SP3 ENSG00000196295 GC07M030589 GARS ZNRF2P2 ENSG00000244480 FKBP14 ENSG00000264520 PLEKHA8 CRHR2 PIR57163
GH07I029193 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10.9 +831.7 831692 3.3 ELF3 ZSCAN4 ARID4B KLF17 ZNF76 SIN3A ZNF2 RAD21 ZNF48 RFX5 CHN2 GC07M029191 CPVL FKBP14 PLEKHA8
GH07I029684 Promoter/Enhancer 1.4 Ensembl ENCODE 13.1 +341.7 341669 2.3 HDAC1 PKNOX1 RB1 SIN3A ZNF335 HCFC1 REST ZNF398 ELF1 ZEB2 ZNRF2P2 LOC646762 ENSG00000223813 DPY19L2P3 FKBP14 ENSG00000264520 PLEKHA8 PRR15 MIR550A3
GH07I030726 Enhancer 1 Ensembl ENCODE 13.1 -700.5 -700496 1.8 PKNOX1 ZBTB40 TCF12 ZNF766 SCRT2 ZNF143 CAVIN1 CEBPB HDAC8 SP1 LOC105375219 CRHR2 ENSG00000264520 PLEKHA8 FKBP14 ENSG00000226874 ENSG00000223419 INMT LOC105375220
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around FKBP14 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FKBP14 gene promoter:

Genomic Locations for FKBP14 Gene

Genomic Locations for FKBP14 Gene
chr7:30,010,583-30,026,801
(GRCh38/hg38)
Size:
16,219 bases
Orientation:
Minus strand
chr7:30,050,203-30,066,300
(GRCh37/hg19)

Genomic View for FKBP14 Gene

Genes around FKBP14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FKBP14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FKBP14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FKBP14 Gene

Proteins for FKBP14 Gene

  • Protein details for FKBP14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NWM8-FKB14_HUMAN
    Recommended name:
    Peptidyl-prolyl cis-trans isomerase FKBP14
    Protein Accession:
    Q9NWM8

    Protein attributes for FKBP14 Gene

    Size:
    211 amino acids
    Molecular mass:
    24172 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for FKBP14 Gene

neXtProt entry for FKBP14 Gene

Post-translational modifications for FKBP14 Gene

Other Protein References for FKBP14 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FKBP14 Gene

Domains & Families for FKBP14 Gene

Gene Families for FKBP14 Gene

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

Protein Domains for FKBP14 Gene

Suggested Antigen Peptide Sequences for FKBP14 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

genes like me logo Genes that share domains with FKBP14: view

No data available for UniProtKB/Swiss-Prot for FKBP14 Gene

Function for FKBP14 Gene

Molecular function for FKBP14 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Peptidylproline (omega=180) = peptidylproline (omega=0).
UniProtKB/Swiss-Prot Function:
PPIases accelerate the folding of proteins during protein synthesis.

Enzyme Numbers (IUBMB) for FKBP14 Gene

Phenotypes From GWAS Catalog for FKBP14 Gene

Gene Ontology (GO) - Molecular Function for FKBP14 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 FKBP14: view
genes like me logo Genes that share phenotypes with FKBP14: view

Human Phenotype Ontology for FKBP14 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for FKBP14 Gene

miRTarBase miRNAs that target FKBP14

Inhibitory RNA Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for FKBP14 Gene

Localization for FKBP14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for FKBP14 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 FKBP14 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 3
cytosol 3
nucleus 2
golgi apparatus 2

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Golgi apparatus (2)
  • Nucleus (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FKBP14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen TAS --
genes like me logo Genes that share ontologies with FKBP14: view

Pathways & Interactions for FKBP14 Gene

genes like me logo Genes that share pathways with FKBP14: view

Gene Ontology (GO) - Biological Process for FKBP14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000413 protein peptidyl-prolyl isomerization IEA --
GO:0036498 IRE1-mediated unfolded protein response TAS --
GO:0061077 chaperone-mediated protein folding IBA --
genes like me logo Genes that share ontologies with FKBP14: view

No data available for SIGNOR curated interactions for FKBP14 Gene

Drugs & Compounds for FKBP14 Gene

No Compound Related Data Available

Transcripts for FKBP14 Gene

Unigene Clusters for FKBP14 Gene

FK506 binding protein 14, 22 kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for FKBP14 Gene

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

Relevant External Links for FKBP14 Gene

GeneLoc Exon Structure for
FKBP14
ECgene alternative splicing isoforms for
FKBP14

Expression for FKBP14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FKBP14 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FKBP14 Gene

This gene is overexpressed in Ovary (40.8) and Fetal testis (15.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for FKBP14 Gene



Protein tissue co-expression partners for FKBP14 Gene

NURSA nuclear receptor signaling pathways regulating expression of FKBP14 Gene:

FKBP14

SOURCE GeneReport for Unigene cluster for FKBP14 Gene:

Hs.390838

Evidence on tissue expression from TISSUES for FKBP14 Gene

  • Kidney(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FKBP14 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • head
  • inner ear
  • jaw
  • mandible
  • maxilla
  • mouth
  • neck
  • skull
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
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:
  • peripheral nervous system
  • skin
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with FKBP14: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FKBP14 Gene

Orthologs for FKBP14 Gene

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

Orthologs for FKBP14 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia FKBP14 33 34
  • 99.84 (n)
cow
(Bos Taurus)
Mammalia FKBP14 33 34
  • 94.63 (n)
dog
(Canis familiaris)
Mammalia FKBP14 33 34
  • 94.47 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia FKBP14 34
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FKBP14 34
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fkbp14 33 16 34
  • 87.68 (n)
rat
(Rattus norvegicus)
Mammalia Fkbp14 33
  • 87.68 (n)
chicken
(Gallus gallus)
Aves FKBP14 34 33
  • 74.24 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FKBP14 34
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fkbp14 33
  • 72.06 (n)
Str.6532 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.6802 33
zebrafish
(Danio rerio)
Actinopterygii fkbp14 33 34
  • 70.37 (n)
wufd36a03 33
fruit fly
(Drosophila melanogaster)
Insecta Fkbp13 35 33 34
  • 52.64 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008822 33
  • 52.45 (n)
worm
(Caenorhabditis elegans)
Secernentea fkb-7 34
  • 20 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FPR2 34
  • 37 (a)
OneToMany
Species where no ortholog for FKBP14 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)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 FKBP14 Gene

ENSEMBL:
Gene Tree for FKBP14 (if available)
TreeFam:
Gene Tree for FKBP14 (if available)

Paralogs for FKBP14 Gene

Paralogs for FKBP14 Gene

(11) SIMAP similar genes for FKBP14 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with FKBP14: view

Variants for FKBP14 Gene

Sequence variations from dbSNP and Humsavar for FKBP14 Gene

SNP ID Clin Chr 07 pos Variation AA Info Type
rs112905680 benign, Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 30,026,475(-) G/C coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs142474407 benign, Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 30,014,876(-) C/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs143268242 likely-benign, benign, not specified, Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 30,019,098(-) C/G coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs147665999 uncertain-significance, Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 30,014,859(-) T/G coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs17150692 benign, not specified, Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 30,026,344(-) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for FKBP14 Gene

Variant ID Type Subtype PubMed ID
nsv1019527 CNV gain 25217958
nsv1068321 OTHER inversion 25765185
nsv1148830 OTHER inversion 26484159

Variation tolerance for FKBP14 Gene

Residual Variation Intolerance Score: 32.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.11; 22.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FKBP14 Gene

Human Gene Mutation Database (HGMD)
FKBP14
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FKBP14

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FKBP14 Gene

Disorders for FKBP14 Gene

MalaCards: The human disease database

(8) MalaCards diseases for FKBP14 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

FKB14_HUMAN
  • Ehlers-Danlos syndrome, with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH) [MIM:614557]: A syndrome with features of Ehlers-Danlos syndrome types VIA and VIB on the one hand, and the collagen VI-related congenital myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy on the other hand. Clinically, this disorder is characterized by the following features: severe generalized hypotonia at birth with marked muscle weakness that improve in infancy; early-onset progressive kyphoscoliosis; joint hypermobility without contractures; hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring; myopathy; hearing impairment, which is predominantly sensorineural; normal ratio of lysyl pyridinoline to hydroxylysyl pyridinoline (LP/HP) in urine. {ECO:0000269 PubMed:22265013}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FKBP14

genes like me logo Genes that share disorders with FKBP14: view

No data available for Genatlas for FKBP14 Gene

Publications for FKBP14 Gene

  1. Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. (PMID: 22265013) Baumann M … Fauth C (American journal of human genetics 2012) 3 4 58
  2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 58
  3. Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PMID: 15340161) Zhang Z … Henzel WJ (Protein science : a publication of the Protein Society 2004) 3 4 58
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 58
  5. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PMID: 12975309) Clark HF … Gray A (Genome research 2003) 3 4 58

Products for FKBP14 Gene

Sources for FKBP14 Gene

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