This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008] See more...

Aliases for PEX13 Gene

Aliases for PEX13 Gene

  • Peroxisomal Biogenesis Factor 13 2 3 5
  • Peroxisomal Membrane Protein PEX13 3 4
  • Peroxisome Biogenesis Factor 13 2 3
  • Peroxin-13 3 4
  • PBD11A 3
  • PBD11B 3
  • NALD 3
  • ZWS 3

External Ids for PEX13 Gene

Previous GeneCards Identifiers for PEX13 Gene

  • GC02P061373
  • GC02P061202
  • GC02P061219
  • GC02P061156
  • GC02P061098
  • GC02P061244
  • GC02P060985

Summaries for PEX13 Gene

Entrez Gene Summary for PEX13 Gene

  • This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal biogenesis disorders, an example of which is Zellweger syndrome. [provided by RefSeq, Oct 2008]

GeneCards Summary for PEX13 Gene

PEX13 (Peroxisomal Biogenesis Factor 13) is a Protein Coding gene. Diseases associated with PEX13 include Peroxisome Biogenesis Disorder 11B and Peroxisome Biogenesis Disorder 11A. Among its related pathways are Peroxisome.

UniProtKB/Swiss-Prot Summary for PEX13 Gene

  • Component of the peroxisomal translocation machinery with PEX14 and PEX17. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PAS10/PEX5). Involved in the import of PTS1 and PTS2 proteins.

Gene Wiki entry for PEX13 Gene

Additional gene information for PEX13 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PEX13 Gene

Genomics for PEX13 Gene

GeneHancer (GH) Regulatory Elements for PEX13 Gene

Promoters and enhancers for PEX13 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 PEX13 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PEX13

Top Transcription factor binding sites by QIAGEN in the PEX13 gene promoter:
  • ATF-2
  • E47
  • E4BP4
  • HSF2
  • Lhx3a
  • LHX3b
  • Pax-4a
  • Sp1
  • Tal-1beta
  • YY1

Genomic Locations for PEX13 Gene

Genomic Locations for PEX13 Gene
chr2:61,017,225-61,051,990
(GRCh38/hg38)
Size:
34,766 bases
Orientation:
Plus strand
chr2:61,244,360-61,279,125
(GRCh37/hg19)
Size:
34,766 bases
Orientation:
Plus strand

Genomic View for PEX13 Gene

Genes around PEX13 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX13 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEX13 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX13 Gene

Proteins for PEX13 Gene

  • Protein details for PEX13 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92968-PEX13_HUMAN
    Recommended name:
    Peroxisomal membrane protein PEX13
    Protein Accession:
    Q92968
    Secondary Accessions:
    • B2RCS1

    Protein attributes for PEX13 Gene

    Size:
    403 amino acids
    Molecular mass:
    44130 Da
    Quaternary structure:
    • Interacts with PEX19.

neXtProt entry for PEX13 Gene

Post-translational modifications for PEX13 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PEX13 Gene

No data available for DME Specific Peptides for PEX13 Gene

Domains & Families for PEX13 Gene

Gene Families for PEX13 Gene

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

Protein Domains for PEX13 Gene

Blocks:
  • SH3 domain signature
  • Peroxin 13, N-terminal
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PEX13 Gene

GenScript: Design optimal peptide antigens:
  • Peroxin-13 (PEX13_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92968

UniProtKB/Swiss-Prot:

PEX13_HUMAN :
  • Belongs to the peroxin-13 family.
Family:
  • Belongs to the peroxin-13 family.
genes like me logo Genes that share domains with PEX13: view

Function for PEX13 Gene

Molecular function for PEX13 Gene

UniProtKB/Swiss-Prot Function:
Component of the peroxisomal translocation machinery with PEX14 and PEX17. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PAS10/PEX5). Involved in the import of PTS1 and PTS2 proteins.
GENATLAS Biochemistry:
peroxin 13,peroxisome biogenesis factor 13 complementation group H (Japan),encoding the docking factor for the PTS1 receptor (PEX5),also required for PTS2 import

Phenotypes From GWAS Catalog for PEX13 Gene

Gene Ontology (GO) - Molecular Function for PEX13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 8858165
genes like me logo Genes that share ontologies with PEX13: view
genes like me logo Genes that share phenotypes with PEX13: view

Human Phenotype Ontology for PEX13 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PEX13 Gene

MGI Knock Outs for PEX13:

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PEX13 Gene

Localization for PEX13 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX13 Gene

Peroxisome membrane; Single-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 PEX13 gene
Compartment Confidence
peroxisome 5
plasma membrane 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
cytosol 2
extracellular 1
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PEX13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IDA,IEA 11829486
GO:0005778 peroxisomal membrane IBA,TAS --
GO:0005779 integral component of peroxisomal membrane IDA 8858165
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PEX13: view

Pathways & Interactions for PEX13 Gene

PathCards logo

SuperPathways for PEX13 Gene

SuperPathway Contained pathways
1 Peroxisome
genes like me logo Genes that share pathways with PEX13: view

Pathways by source for PEX13 Gene

1 KEGG pathway for PEX13 Gene

SIGNOR curated interactions for PEX13 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for PEX13 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001561 fatty acid alpha-oxidation ISS --
GO:0001764 neuron migration IEA,ISS --
GO:0001967 suckling behavior IEA,ISS --
GO:0006625 protein targeting to peroxisome TAS --
GO:0007626 locomotory behavior ISS,IEA --
genes like me logo Genes that share ontologies with PEX13: view

Drugs & Compounds for PEX13 Gene

No Compound Related Data Available

Transcripts for PEX13 Gene

mRNA/cDNA for PEX13 Gene

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

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PEX13 Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3 ^ 4
SP1: -
SP2:

Relevant External Links for PEX13 Gene

GeneLoc Exon Structure for
PEX13

Expression for PEX13 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PEX13 Gene

Protein differential expression in normal tissues from HIPED for PEX13 Gene

This gene is overexpressed in Bone (28.5), Testis (16.5), and Liver (8.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PEX13 Gene



Protein tissue co-expression partners for PEX13 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PEX13

SOURCE GeneReport for Unigene cluster for PEX13 Gene:

Hs.161377

Evidence on tissue expression from TISSUES for PEX13 Gene

  • Liver(4.4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PEX13 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 PEX13: 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 PEX13 Gene

Orthologs for PEX13 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PEX13 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEX13 31 30
  • 99.83 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PEX13 31 30
  • 93.37 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PEX13 31 30
  • 92.72 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pex13 17 31 30
  • 89.41 (n)
oppossum
(Monodelphis domestica)
Mammalia PEX13 31
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pex13 30
  • 86.68 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PEX13 31
  • 81 (a)
OneToOne
chicken
(Gallus gallus)
Aves PEX13 31 30
  • 76.08 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PEX13 31
  • 77 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pex13 30
  • 70.35 (n)
zebrafish
(Danio rerio)
Actinopterygii pex13 31 30
  • 63.5 (n)
OneToOne
zgc66124 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010074 30
  • 46.41 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pex13 31 30
  • 44.01 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea prx-13 31 30
  • 50.77 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEX13 33 31
  • 22 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 45 (a)
OneToOne
Species where no ortholog for PEX13 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • 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 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)

Evolution for PEX13 Gene

ENSEMBL:
Gene Tree for PEX13 (if available)
TreeFam:
Gene Tree for PEX13 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PEX13: view image

Paralogs for PEX13 Gene

No data available for Paralogs for PEX13 Gene

Variants for PEX13 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PEX13 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
744657 Likely Benign: not provided 61,048,468(+) T/A INTRON_VARIANT
755535 Likely Benign: not provided 61,048,584(+) G/A SYNONYMOUS_VARIANT
800163 Benign: not provided 61,048,648(+) G/T MISSENSE_VARIANT
rs1002699754 Uncertain Significance: not provided 61,017,813(+) G/A SYNONYMOUS_VARIANT,INTRON_VARIANT
rs104893661 Pathogenic: Peroxisome biogenesis disorder 11A 61,032,028(+) G/A NONSENSE

Additional dbSNP identifiers (rs#s) for PEX13 Gene

Structural Variations from Database of Genomic Variants (DGV) for PEX13 Gene

Variant ID Type Subtype PubMed ID
nsv478754 CNV novel sequence insertion 20440878

Variation tolerance for PEX13 Gene

Residual Variation Intolerance Score: 83.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.57; 44.69% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PEX13 Gene

Human Gene Mutation Database (HGMD)
PEX13
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PEX13

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX13 Gene

Disorders for PEX13 Gene

MalaCards: The human disease database

(15) MalaCards diseases for PEX13 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PEX13 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PEX13_HUMAN
  • Peroxisome biogenesis disorder complementation group 13 (PBD-CG13) [MIM:614883]: 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:10332040, ECO:0000269 PubMed:19449432}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 11A (PBD11A) [MIM:614883]: 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:10332040, ECO:0000269 PubMed:19449432}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 11B (PBD11B) [MIM:614885]: 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:10332040, ECO:0000269 PubMed:10441568}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PEX13

genes like me logo Genes that share disorders with PEX13: view

No data available for Genatlas for PEX13 Gene

Publications for PEX13 Gene

  1. Zellweger syndrome caused by PEX13 deficiency: report of two novel mutations. (PMID: 19449432) Al-Dirbashi OY … Alkuraya FS (American journal of medical genetics. Part A 2009) 3 4 23 54
  2. PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders. (PMID: 10441568) Liu Y … Gould SJ (American journal of human genetics 1999) 3 4 23 54
  3. Genomic structure of PEX13, a candidate peroxisome biogenesis disorder gene. (PMID: 9878256) Björkman J … Crane DI (Genomics 1998) 2 3 23 54
  4. Molecular mechanism of a temperature-sensitive phenotype in peroxisomal biogenesis disorder. (PMID: 16006427) Hashimoto K … Kondo N (Pediatric research 2005) 3 23 54
  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 54

Products for PEX13 Gene

Sources for PEX13 Gene