PEX2 (peroxisomal biogenesis factor 2)

2016-10-01  

Identity

HGNC
PEX2
LOCATION
8q21.13
LOCUSID
5828
ALIAS
PAF1,PBD5A,PBD5B,PMP3,PMP35,PXMP3,RNF72,ZWS3
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5828
MIM: 170993
HGNC: 9717
Ensembl: ENSG00000164751

Variants:

dbSNP: 5828
ClinVar: 5828
TCGA: ENSG00000164751
COSMIC: PEX2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000164751ENST00000357039P28328
ENSG00000164751ENST00000518986E5RIW9
ENSG00000164751ENST00000520103P28328
ENSG00000164751ENST00000522527P28328

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
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
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
15463151992A human gene responsible for Zellweger syndrome that affects peroxisome assembly.65
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
275977592016PEX2 is the E3 ubiquitin ligase required for pexophagy during starvation.42
213923942011Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.20
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.19
294581442018Disruption of peroxisome function leads to metabolic stress, mTOR inhibition, and lethality in liver cancer cells.7
219033562011Elevation of hemopexin-like fragment of matrix metalloproteinase-2 tissue levels inhibits ischemic wound healing and angiogenesis.2
235903362014A deleterious mutation in the PEX2 gene causes Zellweger syndrome in individuals of Ashkenazi Jewish descent.2

Citation

Dessen P

PEX2 (peroxisomal biogenesis factor 2)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56074/pex2