PEX12

GENERAL INFORMATION

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Gene name

PEX12

Gene description

Peroxisomal biogenesis factor 12

Protein class

Disease related genes
Potential drug targets
Predicted intracellular proteins
Predicted membrane proteins
Transporters

Predicted localization

Intracellular,Membrane

Number of transcripts

3
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Expressed in all
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Ubiquitous membranous and cytoplasmic expression, highly abundant in glandular cells.

ANTIBODY RELIABILITY

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Data reliability
description

Antibody staining mainly consistent with RNA expression data.

Data reliability

Supportive based on 1 antibody.
HPA069386
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Expressed in all

Organ

Expression

GTEx dataset
RNA tissue category:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

PEX12

Synonyms

Description

Peroxisomal biogenesis factor 12 (HGNC Symbol)

Entrez gene summary

This gene belongs to the peroxin-12 family. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of Zellweger syndrome (ZWS). [provided by RefSeq, Oct 2008]

Chromosome

17

Cytoband

q12

Chromosome location (bp)

35574795 - 35578863

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000108733 (version 78.38)

Entrez gene

5193

UniProt

O00623 (UniProt - Evidence at protein level)

neXtProt

NX_O00623

Antibodypedia

PEX12 antibodies


PROTEIN BROWSER

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ENST00000225873
 
ENST00000585380
 
ENST00000613219
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PEX12-001 ENSP00000225873
ENST00000225873
O00623
Show all »
Show » Show » 359 40.8 No 2
PEX12-003 ENSP00000466280
ENST00000585380
K7ELY8
Show all »
Show » Show » 221 25.4 No 0
PEX12-201 ENSP00000482609
ENST00000613219
O00623
Show all »
Show » Show » 359 40.8 No 2