PEX2
entrez
5828
canonical
uniprot
P28328
canonical
ensembl
ENSG00000164751
resolver
ensp
ENSP00000349543
resolver
ensp
ENSP00000428590
resolver
ensp
ENSP00000428638
resolver
ensp
ENSP00000569038
resolver
ensp
ENSP00000569039
resolver
ensp
ENSP00000569040
resolver
ensp
ENSP00000569041
resolver
ensp
ENSP00000569042
resolver
ensp
ENSP00000569043
resolver
ensp
ENSP00000569044
resolver
ensp
ENSP00000569045
resolver
ensp
ENSP00000569046
resolver
ensp
ENSP00000569047
resolver
ensp
ENSP00000569048
resolver
ensp
ENSP00000569049
resolver
ensp
ENSP00000569050
resolver
ensp
ENSP00000603726
resolver
ensp
ENSP00000603727
resolver
ensp
ENSP00000618928
resolver
ensp
ENSP00000618929
resolver
ensp
ENSP00000618930
resolver
ensp
ENSP00000618931
resolver
ensp
ENSP00000618932
resolver
enst
ENST00000357039
resolver
enst
ENST00000520103
resolver
enst
ENST00000522527
resolver
enst
ENST00000898979
resolver
enst
ENST00000898980
resolver
enst
ENST00000898981
resolver
enst
ENST00000898982
resolver
enst
ENST00000898983
resolver
enst
ENST00000898984
resolver
enst
ENST00000898985
resolver
enst
ENST00000898986
resolver
enst
ENST00000898987
resolver
enst
ENST00000898988
resolver
enst
ENST00000898989
resolver
enst
ENST00000898990
resolver
enst
ENST00000898991
resolver
enst
ENST00000933667
resolver
enst
ENST00000933668
resolver
enst
ENST00000948869
resolver
enst
ENST00000948870
resolver
enst
ENST00000948871
resolver
enst
ENST00000948872
resolver
enst
ENST00000948873
resolver
genesymbol
PEX2
resolver
genesymbol_syn
PAF1
resolver
genesymbol_syn
PMP3
resolver
genesymbol_syn
PMP35
resolver
genesymbol_syn
PXMP3
resolver
genesymbol_syn
RNF72
resolver
hgnc
HGNC:9717
resolver
uniprot
Q567S6
resolver
uniprot
Q9BW41
resolver
uniprot_entry
PEX2_HUMAN
resolver
uniprot_sec
Q567S6
resolver
uniprot_sec
Q9BW41
resolver
amino_acid_sequence
MASRKENAKSANRVLRISQLDALELNKALEQLVWSQFTQCFHGFKPGLLARFEPEVKACLWVFLWRFTIYSKNATVGQSVLNIKYKNDFSPNLRYQPPSKNQKIWYAVCTIGGRWLEERCYDLFRNHHLASFGKVKQCVNFVIGLLKLGGLINFLIFLQRGKFATLTERLLGIHSVFCKPQNICEVGFEYMNRELLWHGFAEFLIFLLPLINVQKLKAKLSSWCIPLTGAPNSDNTLATSGKECALCGEWPTMPHTIGCEHIFCYFCAKSSFLFDVYFTCPKCGTEVHSLQPLKSGIEMSEVNAL
uniprot
proteins
disease_involvement
DISEASE: Peroxisome biogenesis disorder complementation group 5 (PBD-CG5) [MIM:614866]: A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Peroxisome biogenesis disorder 5A (PBD5A) [MIM:614866]: A fatal peroxisome biogenesis disorder belonging to the Zellweger disease spectrum and clinically characterized by severe neurologic dysfunction with profound psychomotor retardation, severe hypotonia and neonatal seizures, craniofacial abnormalities, liver dysfunction, and biochemically by the absence of peroxisomes. Additional features include cardiovascular and skeletal defects, renal cysts, ocular abnormalities, and hearing impairment. Most severely affected individuals with the classic form of the disease (classic Zellweger syndrome) die within the first year of life. {ECO:0000269|PubMed:14630978, ECO:0000269|PubMed:1546315, ECO:0000269|PubMed:17041890}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Peroxisome biogenesis disorder 5B (PBD5B) [MIM:614867]: A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy and vision impairment. Children with the NALD presentation may reach their teens, while patients with the IRD presentation may reach adulthood. The clinical conditions are often slowly progressive in particular with respect to loss of hearing and vision. The biochemical abnormalities include accumulation of phytanic acid, very long chain fatty acids (VLCFA), di- and trihydroxycholestanoic acid and pipecolic acid. {ECO:0000269|PubMed:10528859, ECO:0000269|PubMed:14630978, ECO:0000269|PubMed:21392394, ECO:0000269|PubMed:23430938}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
2.3.2.27
uniprot
proteins
ec_number
2.3.2.36
uniprot
proteins
function
FUNCTION: E3 ubiquitin-protein ligase component of a retrotranslocation channel required for peroxisome organization by mediating export of the PEX5 receptor from peroxisomes to the cytosol, thereby promoting PEX5 recycling (PubMed:24662292). The retrotranslocation channel is composed of PEX2, PEX10 and PEX12; each subunit contributing transmembrane segments that coassemble into an open channel that specifically allows the passage of PEX5 through the peroxisomal membrane (By similarity). PEX2 also regulates peroxisome organization by acting as a E3 ubiquitin-protein ligase (By similarity). PEX2 ubiquitinates PEX5 during its passage through the retrotranslocation channel: catalyzes monoubiquitination of PEX5 at 'Cys-11', a modification that acts as a signal for PEX5 extraction into the cytosol (By similarity). Required for pexophagy in response to starvation by mediating ubiquitination of peroxisomal proteins, such as PEX5 and ABCD3/PMP70 (PubMed:27597759). Also involved in the response to reactive oxygen species (ROS) by mediating 'Lys-48'-linked polyubiquitination and subsequent degradation of PNPLA2/ATGL, thereby regulating lipolysis (PubMed:34903883). {ECO:0000250|UniProtKB:P32800, ECO:0000269|PubMed:24662292, ECO:0000269|PubMed:27597759, ECO:0000269|PubMed:34903883}.
uniprot
proteins
mass_dalton
34843
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination. {ECO:0000269|PubMed:24662292, ECO:0000269|PubMed:27597759}.
uniprot
proteins
post_translational_modification
PTM: Forms intramolecular and intermolecular disulfide bonds in response to reactive oxygen species (ROS), promoting higher stability. {ECO:0000269|PubMed:34903883}.
uniprot
proteins
protein_family
Pex2/pex10/pex12 family
uniprot
proteins
pubmed
10528859
uniprot
proteins
pubmed
10891359
uniprot
proteins
pubmed
12751901
uniprot
proteins
pubmed
1426230
uniprot
proteins
pubmed
14630978
uniprot
proteins
pubmed
1546315
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16421571
uniprot
proteins
pubmed
17041890
uniprot
proteins
pubmed
19608861
uniprot
proteins
pubmed
21392394
uniprot
proteins
pubmed
23430938
uniprot
proteins
pubmed
24662292
uniprot
proteins
pubmed
27597759
uniprot
proteins
pubmed
34903883
uniprot
proteins
sequence_length
305
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Peroxisome membrane {ECO:0000269|PubMed:12751901}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 16..42; /note="Helical; Name=TM1"; /evidence="ECO:0000250|UniProtKB:G2Q1C9"; TRANSMEM 49..74; /note="Helical; Name=TM2"; /evidence="ECO:0000250|UniProtKB:G2Q1C9"; TRANSMEM 99..125; /note="Helical; Name=TM3"; /evidence="ECO:0000250|UniProtKB:G2Q1C9"; TRANSMEM 134..160; /note="Helical; Name=TM4"; /evidence="ECO:0000250|UniProtKB:G2Q1C9"; TRANSMEM 188..211; /note="Helical; Name=TM5"; /evidence="ECO:0000250|UniProtKB:G2Q1C9
uniprot
proteins