PEX14 (peroxisomal biogenesis factor 14)

2012-06-01  

Identity

HGNC
PEX14
LOCATION
1p36.22
LOCUSID
5195
ALIAS
NAPP2,PBD13A,Pex14p,dJ734G22.2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5195
MIM: 601791
HGNC: 8856
Ensembl: ENSG00000142655

Variants:

dbSNP: 5195
ClinVar: 5195
TCGA: ENSG00000142655
COSMIC: PEX14

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000142655ENST00000356607O75381
ENSG00000142655ENST00000491661K7EK59

Expression (GTEx)

0
10
20
30
40
50
60
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
PeroxisomeKEGGko04146
PeroxisomeKEGGhsa04146

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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
219766702011PEX5 protein binds monomeric catalase blocking its tetramerization and releases it upon binding the N-terminal domain of PEX14.29
215250352011PEX14 is required for microtubule-based peroxisome motility in human cells.21
147156632004Potential role for Pex19p in assembly of PTS-receptor docking complexes.19
273117142016Super-resolution Microscopy Reveals Compartmentalization of Peroxisomal Membrane Proteins.18
191972372009Structural basis for competitive interactions of Pex14 with the import receptors Pex5 and Pex19.17
151464592004Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene.14
195840602009Solution structure of human Pex5.Pex14.PTS1 protein complexes obtained by small angle X-ray scattering.14
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11

Citation

Dessen P

PEX14 (peroxisomal biogenesis factor 14)

Atlas Genet Cytogenet Oncol Haematol. 2012-06-01

Online version: http://atlasgeneticsoncology.org/gene/52744/pex14