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    FKBP14 FKBP prolyl isomerase 14 [ Homo sapiens (human) ]

    Gene ID: 55033, updated on 14-Nov-2024

    Summary

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    Official Symbol
    FKBP14provided by HGNC
    Official Full Name
    FKBP prolyl isomerase 14provided by HGNC
    Primary source
    HGNC:HGNC:18625
    See related
    Ensembl:ENSG00000106080 MIM:614505; AllianceGenome:HGNC:18625
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EDSKMH; FKBP22; IPBP12; EDSKSCL2
    Summary
    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]
    Expression
    Ubiquitous expression in endometrium (RPKM 5.0), urinary bladder (RPKM 4.2) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See FKBP14 in Genome Data Viewer
    Location:
    7p14.3
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (30005923..30026702, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (30143627..30164384, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (30050203..30066318, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene WAS/WASL interacting protein family member 3 Neighboring gene small nucleolar RNA U13 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:29968955-29969454 Neighboring gene secernin 1 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr7:30000281-30001070 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18049 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18050 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18051 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18052 Neighboring gene FKBP14 antisense RNA 1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25803 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18053 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25804 Neighboring gene pleckstrin homology domain containing A8 Neighboring gene NANOG hESC enhancer GRCh37_chr7:30120436-30120962 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25805 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:30150426-30150612 Neighboring gene uncharacterized LOC105375216 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:30174520-30174897 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18055 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18056 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:30188905-30189404 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18057 Neighboring gene maturin, neural progenitor differentiation regulator homolog

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. The novel missense mutation Met48Lys in FKBP22 changes its structure and functions. Ishikawa Y, et al. Sci Rep, 2020 Jan 16. PMID 31949249, Free PMC Article
    2. RNAi-Mediated Downregulation of FKBP14 Suppresses the Growth of Human Ovarian Cancer Cells. Lu M, et al. Oncol Res, 2016. PMID 27131312, Free PMC Article
    3. Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review. Dordoni C, et al. Am J Med Genet A, 2016 Aug. PMID 27149304
    4. FKBP14 overexpression contributes to osteosarcoma carcinogenesis and indicates poor survival outcome. Huang Z, et al. Oncotarget, 2016 Jun 28. PMID 27223089, Free PMC Article
    5. Ehlers-Danlos syndrome related to FKBP14 mutations: detailed cutaneous phenotype. Bursztejn AC, et al. Clin Exp Dermatol, 2017 Jan. PMID 27905128

    See all (39) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Local Net Charge State of Collagen Triple Helix Is a Determinant of FKBP22 Binding to Collagen III.
      Title: Local Net Charge State of Collagen Triple Helix Is a Determinant of FKBP22 Binding to Collagen III.
    2. Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms.
      Title: Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms.
    3. A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report.
      Title: A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report.
    4. Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases.
      Title: Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases.
    5. The novel missense mutation Met48Lys in FKBP22 changes its structure and functions.
      Title: The novel missense mutation Met48Lys in FKBP22 changes its structure and functions.
    6. This patient points out the existence of a wider phenotypic spectrum of FKBP14-kEDS to include early onset muscle disease.
      Title: Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14.
    7. FKBP14 may act as an oncogene through suppressing apoptosis and promoting motility in human cervical carcinogenesis.
      Title: Inhibitory effects of FKBP14 on human cervical cancer cells.
    8. Genetic studies showed that the patient harboured a homozygous mutation (c.362dupC p.Glu122Argfs*7) in the FKBP14 gene, confirming kyphoscoliotic EDS related to this gene.
      Title: Ehlers-Danlos syndrome related to FKBP14 mutations: detailed cutaneous phenotype.
    9. FKBP14 may act as an oncogene in osteosarcoma via suppressing apoptosis and promoting invasion and adhesion in osteosarcoma carcinogenesis
      Title: FKBP14 overexpression contributes to osteosarcoma carcinogenesis and indicates poor survival outcome.
    10. this report describes a potentially life-threatening vascular complication in early pediatric age and atlantoaxial instability, suggesting the need for FKBP14-related EDS patients of tailored follow-up that includes cardiovascular monitoring, that is, cerebral, thoracic and abdominal MRA, and cervical dynamic radiograph.
      Title: Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20731

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA polymerase II CTD heptapeptide repeat P3 isomerase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II CTD heptapeptide repeat P6 isomerase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calcium ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    peptidyl-prolyl cis-trans isomerase FKBP14
    Names
    22 kDa FK506-binding protein
    22 kDa FKBP
    FK506 binding protein 14, 22 kDa
    FK506-binding protein 14
    FKBP-22
    PPIase FKBP14
    rotamase
    NP_060416.1
    XP_047276506.1
    XP_054214513.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_032173.1 RefSeqGene

      Range
      5001..21219
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_454

    mRNA and Protein(s)

    1. NM_017946.4 → NP_060416.1  peptidyl-prolyl cis-trans isomerase FKBP14 precursor

      See identical proteins and their annotated locations for NP_060416.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the protein-coding transcript.
      Source sequence(s)
      AC007285, AK000738, CR748502, DA166879
      Consensus CDS
      CCDS5423.1
      UniProtKB/Swiss-Prot
      Q9NWM8
      UniProtKB/TrEMBL
      A0A090N7V8
      Related
      ENSP00000222803.5, ENST00000222803.10
      Conserved Domains (2) summary
      COG0545
      Location:43 → 135
      FkpA; FKBP-type peptidyl-prolyl cis-trans isomerase [Posttranslational modification, protein turnover, chaperones]
      pfam13499
      Location:141 → 204
      EF-hand_7; EF-hand domain pair

    RNA

    1. NR_046478.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate exon compared to variant 1, that causes a frameshift. The resulting transcript is not thought to be protein-coding.
      Source sequence(s)
      AC007285, AK000738, AK309552, CR748502, DA166879, DB498479

    2. NR_046479.2 RNA Sequence

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate exon compared to variant 1, that causes a frameshift. The resulting transcript is not thought to be protein-coding.
      Source sequence(s)
      AC007285, AK000738, AK309552, CR748502, DA166879

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      30005923..30026702 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047420550.1 → XP_047276506.1  peptidyl-prolyl cis-trans isomerase FKBP14 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      30143627..30164384 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054358538.1 → XP_054214513.1  peptidyl-prolyl cis-trans isomerase FKBP14 isoform X1

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NWM8.1 GenPept UniProtKB/Swiss-Prot:Q9NWM8

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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