PEX11B (peroxisomal biogenesis factor 11 beta)

2016-10-01  

Identity

HGNC
PEX11B
LOCATION
1q21.1
LOCUSID
8799
ALIAS
PEX11-BETA,PEX14B
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8799
MIM: 603867
HGNC: 8853
Ensembl: ENSG00000131779

Variants:

dbSNP: 8799
ClinVar: 8799
TCGA: ENSG00000131779
COSMIC: PEX11B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131779ENST00000369306O96011
ENSG00000131779ENST00000369306A0A024R4E7
ENSG00000131779ENST00000428634H7C3V6
ENSG00000131779ENST00000537888O96011

Expression (GTEx)

0
10
20
30
40
50
60
70
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
174086152007Fis1, DLP1, and Pex11p coordinately regulate peroxisome morphogenesis.51
208264552010PEX11 family members are membrane elongation factors that coordinate peroxisome proliferation and maintenance.49
225819682012A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene.31
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
225819692012First PEX11β patient extends spectrum of peroxisomal biogenesis disorder phenotypes.7
233082202013Self-interaction of human Pex11pβ during peroxisomal growth and division.7
281294232017Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early Feature.5
311291172019Deciphering the potential involvement of PXMP2 and PEX11B in hydrogen peroxide permeation across the peroxisomal membrane reveals a role for PEX11B in protein sorting.2

Citation

Dessen P

PEX11B (peroxisomal biogenesis factor 11 beta)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56126/pex11b