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 tr... See more...

Aliases for FKBP14 Gene

Aliases for FKBP14 Gene

  • FKBP Prolyl Isomerase 14 2 3 5
  • Peptidyl-Prolyl Cis-Trans Isomerase FKBP14 3 4
  • FK506 Binding Protein 14, 22 KDa 2 3
  • 22 KDa FK506-Binding Protein 3 4
  • FK506-Binding Protein 14 3 4
  • PPIase FKBP14 3 4
  • 22 KDa FKBP 3 4
  • Rotamase 3 4
  • FKBP-22 3 4
  • FKBP22 3 4
  • FK506 Binding Protein 14 (22 KDa) 2
  • FK506 Binding Protein 14 2
  • 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
  • GC07M030050

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 (FKBP Prolyl Isomerase 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 Summary for FKBP14 Gene

  • PPIase which accelerates the folding of proteins during protein synthesis. Has a preference for substrates containing 4-hydroxylproline modifications, including type III collagen. May also target type VI and type X collagens.

Additional gene information for FKBP14 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FKBP14 Gene

Genomics for FKBP14 Gene

GeneHancer (GH) Regulatory Elements for FKBP14 Gene

Promoters and enhancers for FKBP14 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FKBP14 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FKBP14 gene promoter:
  • AML1a
  • CBF(2)
  • CBF-A
  • CBF-B
  • CBF-C
  • CP1A
  • HNF-1
  • HNF-1A
  • HSF1 (long)
  • HSF1short

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)
Size:
16,098 bases
Orientation:
Minus strand

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:
    • Monomer (PubMed:24821723, PubMed:24272907). Homodimer (PubMed:24821723, PubMed:24272907). Interacts with type III, type IV and type X collagens (PubMed:24821723).

    Three dimensional structures from OCA and Proteopedia for FKBP14 Gene

neXtProt entry for FKBP14 Gene

Post-translational modifications for FKBP14 Gene

  • Glycosylation at Asn176
  • Modification sites at PhosphoSitePlus

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:
  • Rotamase (FKB14_HUMAN)
genes like me logo Genes that share domains with FKBP14: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FKBP14 Gene

Function for FKBP14 Gene

Molecular function for FKBP14 Gene

UniProtKB/Swiss-Prot Function:
PPIase which accelerates the folding of proteins during protein synthesis. Has a preference for substrates containing 4-hydroxylproline modifications, including type III collagen. May also target type VI and type X collagens.
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=. ;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by tacrolimus/FK506.

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 IEA --
GO:0005509 calcium ion binding IEA --
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

Animal Model Products

CRISPR Products

miRNA for FKBP14 Gene

miRTarBase miRNAs that target FKBP14

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FKBP14

Clone 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
nucleus 2
cytosol 2
golgi apparatus 1

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: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 --
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

mRNA/cDNA for FKBP14 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FKBP14

Clone 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, 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
Regions:
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

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 32
  • 99.84 (n)
OneToOne
cow
(Bos Taurus)
Mammalia FKBP14 33 32
  • 94.63 (n)
OneToOne
dog
(Canis familiaris)
Mammalia FKBP14 33 32
  • 94.47 (n)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia FKBP14 33
  • 92 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia FKBP14 33
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Fkbp14 17 33 32
  • 87.68 (n)
rat
(Rattus norvegicus)
Mammalia Fkbp14 32
  • 87.68 (n)
chicken
(Gallus gallus)
Aves FKBP14 33 32
  • 74.24 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia FKBP14 33
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia fkbp14 32
  • 72.06 (n)
Str.6532 32
African clawed frog
(Xenopus laevis)
Amphibia Xl.6802 32
zebrafish
(Danio rerio)
Actinopterygii fkbp14 33 32
  • 70.37 (n)
OneToOne
wufd36a03 32
fruit fly
(Drosophila melanogaster)
Insecta Fkbp13 33 34 32
  • 52.64 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008822 32
  • 52.45 (n)
worm
(Caenorhabditis elegans)
Secernentea fkb-7 33
  • 20 (a)
OneToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FPR2 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for FKBP14: view image

Paralogs for FKBP14 Gene

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

  • FKB14_HUMAN
  • F8WBZ0_HUMAN
  • H7C1Z9_HUMAN
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, benign-likely-benign, Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss, not specified 30,014,876(-) C/G/T coding_sequence_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs1430849353 pathogenic, Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 30,014,796(-) TCTTCTT/TCTT coding_sequence_variant, inframe_deletion, non_coding_transcript_variant
rs143268242 likely-benign, benign, not specified, Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 30,019,098(-) C/G/T coding_sequence_variant, non_coding_transcript_variant, synonymous_variant
rs1439447377 uncertain-significance, Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 30,014,791(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_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

(10) 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, kyphoscoliotic type, 2 (EDSKSCL2) [MIM:614557]: A form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSKSCL2 is an autosomal recessive form characterized by severe generalized hypotonia at birth, myopathy, early-onset progressive kyphoscoliosis, joint hypermobility without contractures, hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring, sensorineural hearing impairment, and normal pyridinoline excretion 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. Structure of human peptidyl-prolyl cis-trans isomerase FKBP22 containing two EF-hand motifs. (PMID: 24272907) Boudko SP … Bächinger HP (Protein science : a publication of the Protein Society 2014) 3 4 56
  2. A substrate preference for the rough endoplasmic reticulum resident protein FKBP22 during collagen biosynthesis. (PMID: 24821723) Ishikawa Y … Bächinger HP (The Journal of biological chemistry 2014) 3 4 56
  3. 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 56
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56
  5. 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 56

Products for FKBP14 Gene

Sources for FKBP14 Gene