Property Summary

NCBI Gene PubMed Count 14
PubMed Score 47.00
PubTator Score 13.35

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
malignant mesothelioma -1.200 0.000
osteosarcoma 3.811 0.000
glioblastoma 1.400 0.009
group 4 medulloblastoma -1.300 0.001
medulloblastoma, large-cell -1.100 0.004
adrenocortical carcinoma 1.009 0.009
non-small cell lung cancer 1.225 0.000
lung cancer 1.200 0.004
Pick disease 1.100 0.001
ovarian cancer 2.200 0.000
pituitary cancer -1.700 0.000

Synonym

Accession Q9NWM8 PPIase FKBP14
Symbols EDSKMH
FKBP22
IPBP12

Gene

PANTHER Protein Class (1)

PDB

4DIP   4MSP  

Gene RIF (4)

PMID Text
24821723 FKBP22 catalyzes the folding of type III collagen and only interacts with type III type VI and type X collagen.
24773188 the occurrence of umbilical skin redundancy in association with two other syndromes: Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome (EDS), is reported.
24272907 A 1.9 A resolution crystal structure for human FKBP22 has been determined. The EF-hand motifs of two FKBP22 molecules form a dimeric complex with an elongated and predominantly hydrophobic cavity that can potentially be occupied by an aliphatic ligand.
22265013 study demonstrated FKBP14 is localized in the endoplasmic reticulum (ER) and that deficiency of FKBP14 leads to enlarged ER cisterns in dermal fibroblasts in vivo.

AA Sequence

MRLFLWNAVLTLFVTSLIGALIPEPEVKIEVLQKPFICHRKTKGGDLMLVHYEGYLEKDGSLFHSTHKHN      1 - 70
NGQPIWFTLGILEALKGWDQGLKGMCVGEKRKLIIPPALGYGKEGKGKIPPESTLIFNIDLLEIRNGPRS     71 - 140
HESFQEMDLNDDWKLSKDEVKAYLKKEFEKHGAVVNESHHDALVEDIFDKEDEDKDGFISAREFTYKHDE    141 - 210
L//

Text Mined References (14)

PMID Year Title
24821723 2014 A substrate preference for the rough endoplasmic reticulum resident protein FKBP22 during collagen biosynthesis.
24773188 2014 Excessively redundant umbilical skin as a potential early clinical feature of Morquio syndrome and FKBP14-related Ehlers-Danlos syndrome.
24272907 2014 Structure of human peptidyl-prolyl cis-trans isomerase FKBP22 containing two EF-hand motifs.
22675492 2012 Genome-wide association study of circulating estradiol, testosterone, and sex hormone-binding globulin in postmenopausal women.
22265013 2012 Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.
19189656 Epidermal growth factor receptor pathway gene expressions and biological response of glioblastoma multiforme cell lines to erlotinib.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15340161 2004 Signal peptide prediction based on analysis of experimentally verified cleavage sites.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
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