FKBP14 (FKBP prolyl isomerase 14)

2017-01-01  

Identity

HGNC
LOCATION
7p14.3
LOCUSID
ALIAS
EDSKMH,EDSKSCL2,FKBP22,IPBP12

Other Information

Locus ID:

NCBI: 55033
MIM: 614505
HGNC: 18625
Ensembl: ENSG00000106080

Variants:

dbSNP: 55033
ClinVar: 55033
TCGA: ENSG00000106080
COSMIC: FKBP14

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000106080ENST00000222803Q9NWM8
ENSG00000106080ENST00000222803A0A090N7V8
ENSG00000106080ENST00000412494H7C1Z9
ENSG00000106080ENST00000419018F8WBZ0

Expression (GTEx)

0
5
10
15
20
25
30
35

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Unfolded Protein Response (UPR)REACTOMER-HSA-381119
IRE1alpha activates chaperonesREACTOMER-HSA-381070
XBP1(S) activates chaperone genesREACTOMER-HSA-381038

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
378948342023Local Net Charge State of Collagen Triple Helix Is a Determinant of FKBP22 Binding to Collagen III.0
378948342023Local Net Charge State of Collagen Triple Helix Is a Determinant of FKBP22 Binding to Collagen III.0
360542932022Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms.1
360542932022Kyphoscoliotic Ehlers-Danlos syndrome caused by pathogenic variants in FKBP14: Further insights into the phenotypic spectrum and pathogenic mechanisms.1
335793422021A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report.2
345046862021Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases.2
335793422021A floppy infant without lingual frenulum and kyphoscoliosis: Ehlers Danlos syndrome case report.2
345046862021Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases.2
319492492020The novel missense mutation Met48Lys in FKBP22 changes its structure and functions.4
319492492020The novel missense mutation Met48Lys in FKBP22 changes its structure and functions.4
305611542019Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14.2
305611542019Primary muscle involvement in a 15-year-old girl with the recurrent homozygous c.362dupC variant in FKBP14.2
279051282017Ehlers-Danlos syndrome related to FKBP14 mutations: detailed cutaneous phenotype.5
283858902017Ziploc-ing the structure 2.0: Endoplasmic reticulum-resident peptidyl prolyl isomerases show different activities toward hydroxyproline.9
287311392017Inhibitory effects of FKBP14 on human cervical cancer cells.5

Citation

Dessen P

FKBP14 (FKBP prolyl isomerase 14)

Atlas Genet Cytogenet Oncol Haematol. 2017-01-01

Online version: http://atlasgeneticsoncology.org/gene/56718/fkbp14-(fkbp-prolyl-isomerase-14)