PEX7 (peroxisomal biogenesis factor 7)

2014-11-01 Affiliation

Identity

HGNC

PEX7

LOCATION

6q23.3

LOCUSID

5191

ALIAS

PBD9B,PTS2R,RCDP1,RD

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 5191
MIM: 601757
HGNC: 8860
Ensembl: ENSG00000112357

Variants:

dbSNP: 5191
ClinVar: 5191
TCGA: ENSG00000112357
COSMIC: PEX7

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000112357	ENST00000318471	O00628
ENSG00000112357	ENST00000318471	Q6FGN1
ENSG00000112357	ENST00000367756	Q5TDQ5
ENSG00000112357	ENST00000541292	O00628

Expression (GTEx)

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

Pathway	Source	External ID
Peroxisome	KEGG	ko04146
Peroxisome	KEGG	hsa04146

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
33586206	2021	Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B.	1
33586206	2021	Twins with PEX7 related intellectual disability and cataract: Highlighting phenotypes of peroxisome biogenesis disorder 9B.	1
30204880	2018	A newly isolated Pex7-binding, atypical PTS2 protein P7BP2 is a novel dynein-type AAA+ protein.	0
30204880	2018	A newly isolated Pex7-binding, atypical PTS2 protein P7BP2 is a novel dynein-type AAA+ protein.	0
28013369	2017	Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line.	0
28013369	2017	Peroxisomal abnormalities in the immortalized human hepatocyte (IHH) cell line.	0
25538232	2015	Mechanistic insights into PTS2-mediated peroxisomal protein import: the co-receptor PEX5L drastically increases the interaction strength between the cargo protein and the receptor PEX7.	17
25800479	2015	Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.	0
26138649	2015	Revisiting the intraperoxisomal pathway of mammalian PEX7.	8
25538232	2015	Mechanistic insights into PTS2-mediated peroxisomal protein import: the co-receptor PEX5L drastically increases the interaction strength between the cargo protein and the receptor PEX7.	17
25800479	2015	Rhizomelic Chondrodysplasia Punctata Type 1 Caused by a Novel Mutation in the PEX7 Gene.	0
26138649	2015	Revisiting the intraperoxisomal pathway of mammalian PEX7.	8
24865970	2014	A PEX7-centered perspective on the peroxisomal targeting signal type 2-mediated protein import pathway.	17
24989250	2014	CUL4A-DDB1-Rbx1 E3 ligase controls the quality of the PTS2 receptor Pex7p.	5
24865970	2014	A PEX7-centered perspective on the peroxisomal targeting signal type 2-mediated protein import pathway.	17

Citation

Dessen P

PEX7 (peroxisomal biogenesis factor 7)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71844/pex7-(peroxisomal-biogenesis-factor-7)