FKBP14 (FKBP prolyl isomerase 14)

2017-01-01  

Identity

HGNC
FKBP14
LOCATION
7p14.3
LOCUSID
55033
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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
222650132012Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.31
248217232014A substrate preference for the rough endoplasmic reticulum resident protein FKBP22 during collagen biosynthesis.10
242729072014Structure of human peptidyl-prolyl cis-trans isomerase FKBP22 containing two EF-hand motifs.8
272230892016FKBP14 overexpression contributes to osteosarcoma carcinogenesis and indicates poor survival outcome.6
271313122016RNAi-Mediated Downregulation of FKBP14 Suppresses the Growth of Human Ovarian Cancer Cells.5
271493042016Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.4
283858902017Ziploc-ing the structure 2.0: Endoplasmic reticulum-resident peptidyl prolyl isomerases show different activities toward hydroxyproline.4
279051282017Ehlers-Danlos syndrome related to FKBP14 mutations: detailed cutaneous phenotype.3
247731882014Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome.2
287311392017Inhibitory effects of FKBP14 on human cervical cancer cells.1

Citation

Dessen P

FKBP14 (FKBP prolyl isomerase 14)

Atlas Genet Cytogenet Oncol Haematol. 2017-01-01

Online version: http://atlasgeneticsoncology.org/gene/56718/fkbp14