This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers t... See more...

Aliases for PEX26 Gene

Aliases for PEX26 Gene

  • Peroxisomal Biogenesis Factor 26 2 3 5
  • Peroxisome Biogenesis Factor 26 2 3
  • Peroxisome Assembly Protein 26 3 4
  • Peroxin-26 3 4
  • Peroxisome Biogenesis Disorder, Complementation Group 8 3
  • Peroxisome Biogenesis Disorder, Complementation Group A 3
  • Pex26pM1T 3
  • PEX26M1T 3
  • FLJ20695 2
  • PBD7A 3
  • PBD7B 3
  • PEX26 5

External Ids for PEX26 Gene

Previous GeneCards Identifiers for PEX26 Gene

  • GC22P016935
  • GC22P018560
  • GC22P002373

Summaries for PEX26 Gene

Entrez Gene Summary for PEX26 Gene

  • This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Defects in this gene are the cause of peroxisome biogenesis disorder complementation group 8 (PBD-CG8). PBD refers to a group of peroxisomal disorders arising from a failure of protein import into the peroxisomal membrane or matrix. The PBD group is comprised of four disorders: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Dec 2010]

GeneCards Summary for PEX26 Gene

PEX26 (Peroxisomal Biogenesis Factor 26) is a Protein Coding gene. Diseases associated with PEX26 include Peroxisome Biogenesis Disorder 7A and Peroxisome Biogenesis Disorder 7B. Among its related pathways are Peroxisome. Gene Ontology (GO) annotations related to this gene include ATPase binding.

UniProtKB/Swiss-Prot Summary for PEX26 Gene

  • Probably required for protein import into peroxisomes. Anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Involved in the import of catalase and proteins containing a PTS2 target sequence, but not in import of proteins with a PTS1 target sequence.

Gene Wiki entry for PEX26 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PEX26 Gene

Genomics for PEX26 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PEX26 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 PEX26 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PEX26

Top Transcription factor binding sites by QIAGEN in the PEX26 gene promoter:
  • AP-1
  • C/EBPalpha
  • FOXF2
  • GATA-1
  • Hlf
  • POU2F1
  • POU2F1a
  • RORalpha1

Genomic Locations for PEX26 Gene

Genomic Locations for PEX26 Gene
chr22:18,077,920-18,131,138
(GRCh38/hg38)
Size:
53,219 bases
Orientation:
Plus strand
chr22:18,560,686-18,613,905
(GRCh37/hg19)
Size:
53,220 bases
Orientation:
Plus strand

Genomic View for PEX26 Gene

Genes around PEX26 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX26 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEX26 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX26 Gene

Proteins for PEX26 Gene

  • Protein details for PEX26 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q7Z412-PEX26_HUMAN
    Recommended name:
    Peroxisome assembly protein 26
    Protein Accession:
    Q7Z412
    Secondary Accessions:
    • F6UBB5
    • Q7Z413
    • Q7Z414
    • Q7Z415
    • Q7Z416
    • Q96B12
    • Q9NWQ0
    • Q9NXU0

    Protein attributes for PEX26 Gene

    Size:
    305 amino acids
    Molecular mass:
    33898 Da
    Quaternary structure:
    • Interacts directly with PEX6 via its cytoplasmic domain. Interacts indirectly with PEX1, via its interaction with PEX6.
    SequenceCaution:
    • Sequence=BAA90920.1; Type=Erroneous termination; Note=Truncated C-terminus.; Evidence={ECO:0000305};

    Alternative splice isoforms for PEX26 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PEX26 Gene

Post-translational modifications for PEX26 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PEX26 Gene

No data available for DME Specific Peptides for PEX26 Gene

Domains & Families for PEX26 Gene

Gene Families for PEX26 Gene

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

Protein Domains for PEX26 Gene

InterPro:
Blocks:
  • Pex26
ProtoNet:

Suggested Antigen Peptide Sequences for PEX26 Gene

GenScript: Design optimal peptide antigens:
  • Peroxin-26 (PEX26_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q7Z412

UniProtKB/Swiss-Prot:

PEX26_HUMAN :
  • Belongs to the peroxin-26 family.
Family:
  • Belongs to the peroxin-26 family.
genes like me logo Genes that share domains with PEX26: view

Function for PEX26 Gene

Molecular function for PEX26 Gene

UniProtKB/Swiss-Prot Function:
Probably required for protein import into peroxisomes. Anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into peroxisomes. Involved in the import of catalase and proteins containing a PTS2 target sequence, but not in import of proteins with a PTS1 target sequence.

Phenotypes From GWAS Catalog for PEX26 Gene

Gene Ontology (GO) - Molecular Function for PEX26 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0008022 protein C-terminus binding IPI 15713480
GO:0044877 protein-containing complex binding IDA 16854980
GO:0051117 ATPase binding IBA,IPI 16257970
genes like me logo Genes that share ontologies with PEX26: view
genes like me logo Genes that share phenotypes with PEX26: view

Human Phenotype Ontology for PEX26 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PEX26 Gene

MGI Knock Outs for PEX26:
  • Pex26 Pex26<tm1.1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

miRNA for PEX26 Gene

miRTarBase miRNAs that target PEX26

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PEX26

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PEX26 Gene

Localization for PEX26 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX26 Gene

Peroxisome membrane. Single-pass type II 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 PEX26 gene
Compartment Confidence
peroxisome 5
mitochondrion 2
endoplasmic reticulum 2
cytosol 2
plasma membrane 1
cytoskeleton 1
nucleus 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PEX26 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IBA,IDA 15858711
GO:0005778 peroxisomal membrane TAS --
GO:0005779 integral component of peroxisomal membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PEX26: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PEX26 Gene

Pathways & Interactions for PEX26 Gene

PathCards logo

SuperPathways for PEX26 Gene

SuperPathway Contained pathways
1 Peroxisome
genes like me logo Genes that share pathways with PEX26: view

Pathways by source for PEX26 Gene

1 KEGG pathway for PEX26 Gene

SIGNOR curated interactions for PEX26 Gene

Activates:

Gene Ontology (GO) - Biological Process for PEX26 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006625 protein targeting to peroxisome TAS --
GO:0015031 protein transport IEA --
GO:0016558 protein import into peroxisome matrix IBA,IMP 15858711
GO:0045046 protein import into peroxisome membrane IEA --
genes like me logo Genes that share ontologies with PEX26: view

Drugs & Compounds for PEX26 Gene

No Compound Related Data Available

Transcripts for PEX26 Gene

mRNA/cDNA for PEX26 Gene

3 REFSEQ mRNAs :
28 NCBI additional mRNA sequence :
5 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 PEX26

Alternative Splicing Database (ASD) splice patterns (SP) for PEX26 Gene

No ASD Table

Relevant External Links for PEX26 Gene

GeneLoc Exon Structure for
PEX26

Expression for PEX26 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PEX26 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PEX26 Gene

This gene is overexpressed in Bone (30.0), Lung (16.4), and Platelet (12.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PEX26 Gene



Protein tissue co-expression partners for PEX26 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PEX26

SOURCE GeneReport for Unigene cluster for PEX26 Gene:

Hs.517400

mRNA Expression by UniProt/SwissProt for PEX26 Gene:

Q7Z412-PEX26_HUMAN
Tissue specificity: Widely expressed. Highly expressed in kidney, liver, brain and skeletal muscles. Expressed at intermediate level in pancreas, placenta and heart. Weakly expressed in lung.

Evidence on tissue expression from TISSUES for PEX26 Gene

  • Nervous system(4.5)
  • Intestine(4.2)
  • Kidney(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PEX26 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 PEX26: view

No data available for mRNA differential expression in normal tissues for PEX26 Gene

Orthologs for PEX26 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PEX26 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PEX26 30 31
  • 98.58 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PEX26 30 31
  • 83.27 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PEX26 30 31
  • 83.06 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pex26 30
  • 79.22 (n)
Mouse
(Mus musculus)
Mammalia Pex26 30 17 31
  • 79.11 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PEX26 31
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PEX26 30 31
  • 63.86 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PEX26 31
  • 47 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pex26 30
  • 50.26 (n)
Zebrafish
(Danio rerio)
Actinopterygii pex26 30 31
  • 48.12 (n)
OneToOne
Species where no ortholog for PEX26 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for PEX26 Gene

ENSEMBL:
Gene Tree for PEX26 (if available)
TreeFam:
Gene Tree for PEX26 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PEX26: view image

Paralogs for PEX26 Gene

(5) SIMAP similar genes for PEX26 Gene using alignment to 2 proteins:

  • PEX26_HUMAN
  • E9PRC5_HUMAN
genes like me logo Genes that share paralogs with PEX26: view

No data available for Paralogs for PEX26 Gene

Variants for PEX26 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PEX26 Gene

SNP ID Clinical significance and condition Chr 22 pos Variation AA Info Type
751550 Likely Benign: not provided 18,083,671(+) G/A SYNONYMOUS_VARIANT
844366 Uncertain Significance: Peroxisome biogenesis disorder 7A; Peroxisome biogenesis disorder 7B 18,079,977(+) G/C MISSENSE_VARIANT
846464 Uncertain Significance: Peroxisome biogenesis disorder 7A; Peroxisome biogenesis disorder 7B 18,079,882(+) A/T MISSENSE_VARIANT
852738 Uncertain Significance: Peroxisome biogenesis disorder 7A; Peroxisome biogenesis disorder 7B 18,088,067(+) C/T MISSENSE_VARIANT
857575 Uncertain Significance: Peroxisome biogenesis disorder 7A; Peroxisome biogenesis disorder 7B 18,078,504(+) ACCT/A INFRAME_DELETION

Additional dbSNP identifiers (rs#s) for PEX26 Gene

Structural Variations from Database of Genomic Variants (DGV) for PEX26 Gene

Variant ID Type Subtype PubMed ID
esv2758824 CNV gain+loss 17122850
esv3893430 CNV gain 25118596
nsv1055756 CNV gain 25217958
nsv1057188 CNV gain 25217958
nsv1058565 CNV gain 25217958
nsv428385 CNV gain+loss 18775914
nsv469560 CNV gain 16826518
nsv471594 CNV gain+loss 15918152
nsv524564 CNV loss 19592680

Variation tolerance for PEX26 Gene

Residual Variation Intolerance Score: 62% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.69; 32.22% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PEX26 Gene

Human Gene Mutation Database (HGMD)
PEX26
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PEX26

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX26 Gene

Disorders for PEX26 Gene

MalaCards: The human disease database

(20) MalaCards diseases for PEX26 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
peroxisome biogenesis disorder 7a
  • pbd7a
peroxisome biogenesis disorder 7b
  • pbd7b
peroxisome biogenesis disorder 1b
  • pbd1b
zellweger spectrum disorder
  • cerebrohepatorenal syndrome
neonatal adrenoleukodystrophy
  • adrenoleukodystrophy autosomal neonatal form
- elite association - COSMIC cancer census association via MalaCards
Search PEX26 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PEX26_HUMAN
  • Peroxisome biogenesis disorder complementation group 8 (PBD-CG8) [MIM:614872]: 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:12717447, ECO:0000269 PubMed:12851857, ECO:0000269 PubMed:19105186}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 7A (PBD7A) [MIM:614872]: 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:12851857}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 7B (PBD7B) [MIM:614873]: 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:12717447, ECO:0000269 PubMed:12851857}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PEX26

genes like me logo Genes that share disorders with PEX26: view

No data available for Genatlas for PEX26 Gene

Publications for PEX26 Gene

  1. The pathogenic peroxin Pex26p recruits the Pex1p-Pex6p AAA ATPase complexes to peroxisomes. (PMID: 12717447) Matsumoto N … Fujiki Y (Nature cell biology 2003) 2 3 4 23
  2. Mutations in novel peroxin gene PEX26 that cause peroxisome-biogenesis disorders of complementation group 8 provide a genotype-phenotype correlation. (PMID: 12851857) Matsumoto N … Fujiki Y (American journal of human genetics 2003) 2 3 4 41
  3. 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
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for PEX26 Gene

Sources for PEX26 Gene