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

Gene ID: 55033, updated on 5-Mar-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (30005923..30026702, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (30143627..30164384, complement)
105.20220307 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
  • 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. Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms. Colman M, et al. Hum Mutat, 2022 Dec. PMID 36054293
  2. Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases. Semyachkina AN, et al. F1000Res, 2021. PMID 34504686, Free PMC Article
  3. 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
  4. FKBP14 Kyphoscoliotic Ehlers-Danlos Syndrome. Adam MP, et al. , 1993. PMID 31132235
  5. Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14. Castori M, et al. Am J Med Genet A, 2019 Feb. PMID 30561154

See all (36) 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)

Genotypes

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 calcium ion binding IEA
Inferred from Electronic Annotation
more info
  
enables peptidyl-prolyl cis-trans isomerase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
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_2023_10

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

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