PEX10 (peroxisomal biogenesis factor 10)

2014-11-01  

Identity

HGNC
PEX10
LOCATION
1p36.32
LOCUSID
5192
ALIAS
NALD,PBD6A,PBD6B,RNF69
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5192
MIM: 602859
HGNC: 8851
Ensembl: ENSG00000157911

Variants:

dbSNP: 5192
ClinVar: 5192
TCGA: ENSG00000157911
COSMIC: PEX10

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000157911ENST00000288774O60683
ENSG00000157911ENST00000288774A0A024R0A4
ENSG00000157911ENST00000447513O60683
ENSG00000157911ENST00000447513A0A024R068
ENSG00000157911ENST00000502666J3KRE0
ENSG00000157911ENST00000507596D6RBB0
ENSG00000157911ENST00000508384J3QRM4
ENSG00000157911ENST00000510434D6RA89
ENSG00000157911ENST00000514502D6RIF5
ENSG00000157911ENST00000650293A0A3B3ITN6

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
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
206950192010Mutations in PEX10 are a cause of autosomal recessive ataxia.22
191051862009Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.20
147132162003Genetic heterogeneity in Japanese patients with peroxisome biogenesis disorders and evidence for a founder haplotype for the most common mutation in PEX10 gene.3
308639972019PEX10, SIRPA-SIRPG, and SOX5 gene polymorphisms are strongly associated with nonobstructive azoospermia susceptibility.2
272308532016Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.1
256360902015[Abnormal expression of PEX10 gene may be related to epilepsy associated with 1p36 copy number variations].0

Citation

Dessen P

PEX10 (peroxisomal biogenesis factor 10)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71832/pex10