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Aliases for PEX12 Gene

Aliases for PEX12 Gene

  • Peroxisomal Biogenesis Factor 12 2 3
  • Peroxisome Assembly Factor 3 3 4
  • Peroxin-12 3 4
  • PBD3A 3 6
  • PAF-3 3 4
  • Peroxisome Assembly Protein 12 3
  • Peroxin 12 3
  • PAF3 4

External Ids for PEX12 Gene

Previous GeneCards Identifiers for PEX12 Gene

  • GC17M033671
  • GC17M035937
  • GC17M033750
  • GC17M034047
  • GC17M030925
  • GC17M033897
  • GC17M030086

Summaries for PEX12 Gene

Entrez Gene Summary for PEX12 Gene

  • 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]

GeneCards Summary for PEX12 Gene

PEX12 (Peroxisomal Biogenesis Factor 12) is a Protein Coding gene. Diseases associated with PEX12 include peroxisome biogenesis disorder 3a and peroxisome biogenesis disorder 3b. Among its related pathways are Peroxisome. GO annotations related to this gene include protein C-terminus binding.

UniProtKB/Swiss-Prot for PEX12 Gene

  • Required for protein import into peroxisomes.

Gene Wiki entry for PEX12 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX12 Gene

Genomics for PEX12 Gene

Regulatory Elements for PEX12 Gene

Genomic Location for PEX12 Gene

Start:
35,574,795 bp from pter
End:
35,578,863 bp from pter
Size:
4,069 bases
Orientation:
Minus strand

Genomic View for PEX12 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for PEX12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX12 Gene

Proteins for PEX12 Gene

  • Protein details for PEX12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O00623-PEX12_HUMAN
    Recommended name:
    Peroxisome assembly protein 12
    Protein Accession:
    O00623
    Secondary Accessions:
    • B2R6M2

    Protein attributes for PEX12 Gene

    Size:
    359 amino acids
    Molecular mass:
    40797 Da
    Quaternary structure:
    • Interacts with PEX5 and PEX10. Interacts with PEX19 via its cytoplasmic domain.

neXtProt entry for PEX12 Gene

Proteomics data for PEX12 Gene at MOPED

Post-translational modifications for PEX12 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PEX12 Gene

No data available for DME Specific Peptides for PEX12 Gene

Domains for PEX12 Gene

Protein Domains for PEX12 Gene

Suggested Antigen Peptide Sequences for PEX12 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O00623

UniProtKB/Swiss-Prot:

PEX12_HUMAN :
  • O00623
Family:
  • Belongs to the pex2/pex10/pex12 family.
Similarity:
  • Contains 1 RING-type zinc finger.
genes like me logo Genes that share domains with PEX12: view

No data available for Gene Families for PEX12 Gene

Function for PEX12 Gene

Molecular function for PEX12 Gene

UniProtKB/Swiss-Prot Function: Required for protein import into peroxisomes.

Gene Ontology (GO) - Molecular Function for PEX12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10562279
GO:0008022 protein C-terminus binding IPI 10562279
GO:0008270 zinc ion binding IMP 10562279
genes like me logo Genes that share ontologies with PEX12: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for PEX12 Gene

Localization for PEX12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX12 Gene

Peroxisome membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PEX12 Gene COMPARTMENTS Subcellular localization image for PEX12 gene
Compartment Confidence
peroxisome 5
cytosol 1
endoplasmic reticulum 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for PEX12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IDA 9922452
GO:0005778 peroxisomal membrane IDA 21525035
GO:0005779 integral component of peroxisomal membrane TAS 10562279
genes like me logo Genes that share ontologies with PEX12: view

Pathways for PEX12 Gene

SuperPathways for PEX12 Gene

Superpath Contained pathways
1 Peroxisome
genes like me logo Genes that share pathways with PEX12: view

Pathways by source for PEX12 Gene

1 KEGG pathway for PEX12 Gene

Gene Ontology (GO) - Biological Process for PEX12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006625 protein targeting to peroxisome NAS 12096124
GO:0007031 peroxisome organization IMP 17534573
GO:0016558 protein import into peroxisome matrix NAS 12456682
genes like me logo Genes that share ontologies with PEX12: view

Compounds for PEX12 Gene

(1) Novoseek inferred chemical compound relationships for PEX12 Gene

Compound -log(P) Hits PubMed IDs
zinc 23 4
genes like me logo Genes that share compounds with PEX12: view

Transcripts for PEX12 Gene

mRNA/cDNA for PEX12 Gene

Unigene Clusters for PEX12 Gene

Peroxisomal biogenesis factor 12:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PEX12 Gene

No ASD Table

Relevant External Links for PEX12 Gene

GeneLoc Exon Structure for
PEX12
ECgene alternative splicing isoforms for
PEX12

Expression for PEX12 Gene

mRNA expression in normal human tissues for PEX12 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for PEX12 Gene

SOURCE GeneReport for Unigene cluster for PEX12 Gene Hs.591190

genes like me logo Genes that share expressions with PEX12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PEX12 Gene

Orthologs for PEX12 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PEX12 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEX12 35
  • 99.63 (n)
  • 99.44 (a)
PEX12 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia PEX12 35
  • 91.74 (n)
  • 93.87 (a)
PEX12 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PEX12 35
  • 92.01 (n)
  • 92.2 (a)
PEX12 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pex12 35
  • 87 (n)
  • 89.42 (a)
Pex12 16
Pex12 36
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PEX12 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PEX12 36
  • 57 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100909787 35
  • 87.28 (n)
  • 88.58 (a)
chicken
(Gallus gallus)
Aves PEX12 35
  • 72.19 (n)
  • 76.69 (a)
PEX12 36
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.15035 35
tropical clawed frog
(Silurana tropicalis)
Amphibia pex12 35
  • 66.29 (n)
  • 66.01 (a)
Str.18184 35
zebrafish
(Danio rerio)
Actinopterygii pex12 35
  • 61.35 (n)
  • 62.06 (a)
pex12 36
  • 61 (a)
OneToOne
zgc56182 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010497 35
  • 47.21 (n)
  • 36.59 (a)
fruit fly
(Drosophila melanogaster)
Insecta Pex12 35
  • 44.89 (n)
  • 36.1 (a)
Pex12 36
  • 29 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea prx-12 35
  • 48.77 (n)
  • 39.88 (a)
prx-12 36
  • 35 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEX12 36
  • 21 (a)
OneToOne
PEX12 38
thale cress
(Arabidopsis thaliana)
eudicotyledons PEX12 35
  • 44.71 (n)
  • 34.74 (a)
rice
(Oryza sativa)
Liliopsida Os10g0467200 35
  • 45.1 (n)
  • 34.12 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU05245 35
  • 43.78 (n)
  • 33.73 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAPB17E12.03 35
  • 40.72 (n)
  • 25.5 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 34 (a)
OneToOne
Species with no ortholog for PEX12:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PEX12 Gene

ENSEMBL:
Gene Tree for PEX12 (if available)
TreeFam:
Gene Tree for PEX12 (if available)

Paralogs for PEX12 Gene

Pseudogenes.org Pseudogenes for PEX12 Gene

genes like me logo Genes that share paralogs with PEX12: view

No data available for Paralogs for PEX12 Gene

Variants for PEX12 Gene

Sequence variations from dbSNP and Humsavar for PEX12 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs10068 -- 35,574,946(-) CTAAA(C/G)TGTCA utr-variant-3-prime
rs191198 -- 35,576,487(-) TTTTT(C/G)TGGAT intron-variant
rs192942 -- 35,576,607(-) GTGCT(C/T)TTAAT intron-variant
rs321599 -- 35,578,726(-) CACAA(A/G)GGCCC upstream-variant-2KB
rs321600 -- 35,578,449(-) GCCCT(C/T)GTGTC utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for PEX12 Gene

Variant ID Type Subtype PubMed ID
nsv908079 CNV Loss 21882294
nsv2038 CNV Insertion 18451855

Relevant External Links for PEX12 Gene

HapMap Linkage Disequilibrium report
PEX12
Human Gene Mutation Database (HGMD)
PEX12
Locus Specific Mutation Databases (LSDB)
PEX12

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX12 Gene

Disorders for PEX12 Gene

(2) OMIM Diseases for PEX12 Gene (601758)

UniProtKB/Swiss-Prot

PEX12_HUMAN
  • Peroxisome biogenesis disorder complementation group 3 (PBD-CG3) [MIM:614859]: 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). {ECO:0000269 PubMed:19105186}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 3A (PBD3A) [MIM:614859]: 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:9090384}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 3B (PBD3B) [MIM:266510]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

(2) Novoseek inferred disease relationships for PEX12 Gene

Disease -log(P) Hits PubMed IDs
peroxisome biogenesis disorders 96.5 3
zellweger syndrome 93.9 3

Relevant External Links for PEX12

GeneTests
PEX12
GeneReviews
PEX12
genes like me logo Genes that share disorders with PEX12: view

Publications for PEX12 Gene

  1. Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders. (PMID: 9090384) Chang C.-C. … Gould S.J. (Nat. Genet. 1997) 2 3 4 23
  2. PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p. (PMID: 9632816) Okumoto K. … Fujiki Y. (Mol. Cell. Biol. 1998) 3 4 23
  3. PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import. (PMID: 10562279) Chang C.C. … Gould S.J. (J. Cell Biol. 1999) 3 4 23
  4. Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. (PMID: 19105186) Yik W.Y. … Hacia J.G. (Hum. Mutat. 2009) 3 4 23
  5. PEX19 binds multiple peroxisomal membrane proteins, is predominantly cytoplasmic, and is required for peroxisome membrane synthesis. (PMID: 10704444) Sacksteder K.A. … Gould S.J. (J. Cell Biol. 2000) 3 4

Products for PEX12 Gene

Sources for PEX12 Gene

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