PEX13 (peroxisomal biogenesis factor 13)

2017-10-01  

Identity

HGNC
PEX13
LOCATION
2p15
LOCUSID
5194
ALIAS
NALD,PBD11A,PBD11B,ZWS
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5194
MIM: 601789
HGNC: 8855
Ensembl: ENSG00000162928

Variants:

dbSNP: 5194
ClinVar: 5194
TCGA: ENSG00000162928
COSMIC: PEX13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162928ENST00000295030Q92968
ENSG00000162928ENST00000401576B5MBY9
ENSG00000162928ENST00000414712G5E9N6
ENSG00000162928ENST00000444100D3YTD3

Expression (GTEx)

0
5
10
15
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
147156632004Potential role for Pex19p in assembly of PTS-receptor docking complexes.19
278277952017Peroxisomal protein PEX13 functions in selective autophagy.18
194494322009Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations.5
237165702013Functional analysis of PEX13 mutation in a Zellweger syndrome spectrum patient reveals novel homooligomerization of PEX13 and its role in human peroxisome biogenesis.5
287652782017The peroxisomal matrix protein translocon is a large cavity-forming protein assembly into which PEX5 protein enters to release its cargo.5
160064272005Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder.2

Citation

Dessen P

PEX13 (peroxisomal biogenesis factor 13)

Atlas Genet Cytogenet Oncol Haematol. 2017-10-01

Online version: http://atlasgeneticsoncology.org/gene/57179/pex13