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 wi... See more...

Aliases for PEX12 Gene

Aliases for PEX12 Gene

  • Peroxisomal Biogenesis Factor 12 2 3 5
  • Peroxisome Assembly Protein 12 3 4
  • Peroxisome Assembly Factor 3 3 4
  • PAF-3 3 4
  • Peroxin 12 3
  • Peroxin-12 4
  • PBD3A 3
  • PEX12 5
  • 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. Gene Ontology (GO) annotations related to this gene include protein C-terminus binding.

UniProtKB/Swiss-Prot Summary for PEX12 Gene

Gene Wiki entry for PEX12 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PEX12 Gene

Genomics for PEX12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PEX12 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PEX12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PEX12

Top Transcription factor binding sites by QIAGEN in the PEX12 gene promoter:
  • AML1a
  • AP-2gamma
  • AREB6
  • ATF-2
  • Brachyury
  • Cdc5
  • En-1
  • LCR-F1
  • Pax-3

Genomic Locations for PEX12 Gene

Genomic Locations for PEX12 Gene
chr17:35,574,795-35,578,863
(GRCh38/hg38)
Size:
4,069 bases
Orientation:
Minus strand
chr17:33,901,814-33,905,882
(GRCh37/hg19)
Size:
4,069 bases
Orientation:
Minus strand

Genomic View for PEX12 Gene

Genes around PEX12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 & Families for PEX12 Gene

Gene Families for PEX12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for PEX12 Gene

InterPro:
Blocks:
  • Zn-finger, RING
  • Pex2 / Pex12, N-terminal
ProtoNet:

Suggested Antigen Peptide Sequences for PEX12 Gene

GenScript: Design optimal peptide antigens:
  • PEX12 protein (A0PJ54_HUMAN)
  • Peroxisome assembly factor 3 (PEX12_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O00623

UniProtKB/Swiss-Prot:

PEX12_HUMAN :
  • Belongs to the pex2/pex10/pex12 family.
Family:
  • Belongs to the pex2/pex10/pex12 family.
genes like me logo Genes that share domains with PEX12: view

Function for PEX12 Gene

Molecular function for PEX12 Gene

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

Phenotypes From GWAS Catalog for PEX12 Gene

Gene Ontology (GO) - Molecular Function for PEX12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004842 ubiquitin-protein transferase activity IBA 21873635
GO:0005515 protein binding IPI 10562279
GO:0008022 protein C-terminus binding IPI 10562279
GO:0008270 zinc ion binding IMP 10562279
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PEX12: view
genes like me logo Genes that share phenotypes with PEX12: view

Human Phenotype Ontology for PEX12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PEX12

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PEX12 gene
Compartment Confidence
peroxisome 5
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 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 TAS --
GO:0005779 integral component of peroxisomal membrane IBA,TAS 10562279
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PEX12: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PEX12 Gene

Pathways & Interactions for PEX12 Gene

PathCards logo

SuperPathways for PEX12 Gene

SuperPathway 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

SIGNOR curated interactions for PEX12 Gene

Activates:

Gene Ontology (GO) - Biological Process for PEX12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006513 protein monoubiquitination IBA 21873635
GO:0006625 protein targeting to peroxisome NAS,TAS --
GO:0007031 peroxisome organization IMP 17534573
GO:0016558 protein import into peroxisome matrix IBA,NAS 12456682
GO:0016567 protein ubiquitination TAS --
genes like me logo Genes that share ontologies with PEX12: view

Drugs & Compounds for PEX12 Gene

(1) Drugs for PEX12 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with PEX12: view

Transcripts for PEX12 Gene

mRNA/cDNA for PEX12 Gene

1 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PEX12

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

No ASD Table

Relevant External Links for PEX12 Gene

GeneLoc Exon Structure for
PEX12

Expression for PEX12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PEX12 Gene

Protein differential expression in normal tissues from HIPED for PEX12 Gene

This gene is overexpressed in Testis (32.6), Frontal cortex (9.3), Fetal testis (7.7), Retina (7.1), and Liver (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PEX12 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PEX12

SOURCE GeneReport for Unigene cluster for PEX12 Gene:

Hs.591190

Evidence on tissue expression from TISSUES for PEX12 Gene

  • Nervous system(4.7)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PEX12 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • scalp
  • skull
  • tongue
Thorax:
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
Abdomen:
  • abdominal wall
  • adrenal gland
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • ovary
  • pelvis
  • penis
  • testicle
  • ureter
  • urethra
  • uterus
  • vagina
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • lymph node
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PEX12: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners 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 30 31
  • 99.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PEX12 30 31
  • 92.01 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PEX12 30 31
  • 91.74 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pex12 30
  • 87.28 (n)
Mouse
(Mus musculus)
Mammalia Pex12 30 17 31
  • 87 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PEX12 31
  • 86 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PEX12 31
  • 57 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PEX12 30 31
  • 72.19 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pex12 30
  • 66.29 (n)
Str.18184 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.15035 30
Zebrafish
(Danio rerio)
Actinopterygii pex12 30 31
  • 61.35 (n)
OneToOne
zgc56182 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010497 30
  • 47.21 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Pex12 30 31
  • 44.89 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea prx-12 30 31
  • 48.77 (n)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEX12 31 33
  • 21 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons PEX12 30
  • 44.71 (n)
Rice
(Oryza sativa)
Liliopsida Os10g0467200 30
  • 45.1 (n)
Bread mold
(Neurospora crassa)
Ascomycetes NCU05245 30
  • 43.78 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes SPAPB17E12.03 30
  • 40.72 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 34 (a)
OneToOne
Species where no ortholog for PEX12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PEX12: view image

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, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PEX12 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
713643 Likely Benign: not provided 35,576,013(-) T/C SYNONYMOUS_VARIANT
721706 Likely Benign: not provided 35,577,888(-) T/C INTRON_VARIANT
728417 Likely Benign: Peroxisome biogenesis disorder 3A 35,575,794(-) G/A SYNONYMOUS_VARIANT
746755 Likely Benign: Peroxisome biogenesis disorder 3A 35,577,175(-) G/A SYNONYMOUS_VARIANT
750132 Likely Benign: Peroxisome biogenesis disorder 3A 35,577,271(-) A/G SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PEX12 Gene

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

Variant ID Type Subtype PubMed ID
esv3892999 CNV loss 25118596
nsv2038 CNV insertion 18451855
nsv953880 CNV duplication 24416366

Variation tolerance for PEX12 Gene

Residual Variation Intolerance Score: 64.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.08; 50.77% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PEX12 Gene

Human Gene Mutation Database (HGMD)
PEX12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PEX12

SNP Genotyping and Copy Number Assay Products

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

Disorders for PEX12 Gene

MalaCards: The human disease database

(17) MalaCards diseases for PEX12 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PEX12 in MalaCards View complete list of genes associated with diseases

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. {ECO:0000269 PubMed:10562279, ECO:0000269 PubMed:19105186}. Note=The disease is caused by mutations affecting the gene represented in this entry.
genes like me logo Genes that share disorders with PEX12: view

No data available for Genatlas for PEX12 Gene

Publications for PEX12 Gene

  1. Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders. (PMID: 9090384) Chang CC … Gould SJ (Nature genetics 1997) 2 3 4 23
  2. Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders. (PMID: 19105186) Yik WY … Hacia JG (Human mutation 2009) 3 4 23
  3. PEX12 interacts with PEX5 and PEX10 and acts downstream of receptor docking in peroxisomal matrix protein import. (PMID: 10562279) Chang CC … Gould SJ (The Journal of cell biology 1999) 3 4 23
  4. 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 (Molecular and cellular biology 1998) 3 4 23
  5. A novel PEX12 mutation identified as the cause of a peroxisomal biogenesis disorder with mild clinical phenotype, mild biochemical abnormalities in fibroblasts and a mosaic catalase immunofluorescence pattern, even at 40 degrees C. (PMID: 17534573) Zeharia A … Korman SH (Journal of human genetics 2007) 3 23

Products for PEX12 Gene

Sources for PEX12 Gene