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Aliases for PEX14 Gene

Aliases for PEX14 Gene

  • Peroxisomal Biogenesis Factor 14 2 3 5
  • Peroxisomal Membrane Anchor Protein PEX14 3 4
  • Peroxin-14 3 4
  • Peroxisomal Membrane Anchor Protein Pex14p 3
  • Peroxisomal Membrane Protein PEX14 3
  • NF-E2 Associated Polypeptide 2 3
  • PTS1 Receptor Docking Protein 3
  • PTS1 Receptor-Docking Protein 4
  • DJ734G22.2 3
  • PBD13A 3
  • Pex14p 3
  • NAPP2 3

External Ids for PEX14 Gene

Previous GeneCards Identifiers for PEX14 Gene

  • GC01P010496
  • GC01P010378
  • GC01P010144
  • GC01P010244
  • GC01P010469
  • GC01P010532
  • GC01P009688

Summaries for PEX14 Gene

Entrez Gene Summary for PEX14 Gene

  • This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008]

GeneCards Summary for PEX14 Gene

PEX14 (Peroxisomal Biogenesis Factor 14) is a Protein Coding gene. Diseases associated with PEX14 include Peroxisome Biogenesis Disorder 13A and Neonatal Adrenoleukodystrophy. Among its related pathways are Peroxisome. GO annotations related to this gene include receptor binding and microtubule binding.

UniProtKB/Swiss-Prot for PEX14 Gene

  • Peroxisome membrane protein that is an essential component of the peroxisomal import machinery. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PEX5). Plays a key role for peroxisome movement through a direct interaction with tubulin.

Gene Wiki entry for PEX14 Gene

Additional gene information for PEX14 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX14 Gene

Genomics for PEX14 Gene

Regulatory Elements for PEX14 Gene

Enhancers for PEX14 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H010494 1.8 FANTOM5 Ensembl ENCODE dbSUPER 19.8 +24.7 24659 4.7 ELF3 HDGF PKNOX1 RB1 SIN3A ARID4B BMI1 ZNF2 RAD21 RFX5 PEX14 DFFA CENPS CENPS-CORT CORT ENSG00000203469 ENSG00000271989 PGD GC01P010513
GH01H010507 2.6 Ensembl ENCODE dbSUPER 7 +40.5 40456 11.1 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 ZNF2 YY1 ZNF143 PGD NMNAT1 PEX14 ENSG00000271989 RBP7 GC01P010513 DFFA
GH01H010533 1.5 VISTA 9.4 +61.3 61322 1.1 POLR2A ZNF398 PRDM1 C1orf127 PEX14 DFFA ENSG00000271989 PIR58493 GC01P010513
GH01H010527 1.4 Ensembl ENCODE dbSUPER 9.7 +57.5 57460 4.2 ZSCAN4 INSM2 KLF17 ZNF2 RAD21 ZEB1 ETS1 ZNF366 ZSCAN5C SCRT2 PGD C1orf127 PEX14 DFFA PIR58493 GC01P010513
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PEX14 on UCSC Golden Path with GeneCards custom track

Promoters for PEX14 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000001278 112 1601 HDGF MLX ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766

Genomic Locations for PEX14 Gene

Genomic Locations for PEX14 Gene
158,471 bases
Plus strand

Genomic View for PEX14 Gene

Genes around PEX14 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX14 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEX14 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX14 Gene

Proteins for PEX14 Gene

  • Protein details for PEX14 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Peroxisomal membrane protein PEX14
    Protein Accession:
    Secondary Accessions:
    • B2R7N1
    • B3KML6
    • B7Z1N2
    • Q8WX51

    Protein attributes for PEX14 Gene

    377 amino acids
    Molecular mass:
    41237 Da
    Quaternary structure:
    • Interacts with PEX5, PEX13 and PEX19. Interacts with tubulin.

    Three dimensional structures from OCA and Proteopedia for PEX14 Gene

    Alternative splice isoforms for PEX14 Gene


neXtProt entry for PEX14 Gene

Post-translational modifications for PEX14 Gene

  • Ubiquitination at posLast=3434, posLast=220220, and Lys363
  • Modification sites at PhosphoSitePlus

Other Protein References for PEX14 Gene

No data available for DME Specific Peptides for PEX14 Gene

Domains & Families for PEX14 Gene

Gene Families for PEX14 Gene

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

Protein Domains for PEX14 Gene

Suggested Antigen Peptide Sequences for PEX14 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peroxin-14 family.
  • Belongs to the peroxin-14 family.
genes like me logo Genes that share domains with PEX14: view

Function for PEX14 Gene

Molecular function for PEX14 Gene

UniProtKB/Swiss-Prot Function:
Peroxisome membrane protein that is an essential component of the peroxisomal import machinery. Functions as a docking factor for the predominantly cytoplasmic PTS1 receptor (PEX5). Plays a key role for peroxisome movement through a direct interaction with tubulin.

Phenotypes From GWAS Catalog for PEX14 Gene

Gene Ontology (GO) - Molecular Function for PEX14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003714 transcription corepressor activity IDA 11863372
GO:0005102 receptor binding IPI 10022913
GO:0005515 protein binding IPI 9653144
GO:0008017 microtubule binding IDA 21525035
GO:0042802 identical protein binding IPI 12096124
genes like me logo Genes that share ontologies with PEX14: view
genes like me logo Genes that share phenotypes with PEX14: view

Human Phenotype Ontology for PEX14 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PEX14 Gene

Localization for PEX14 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX14 Gene

Peroxisome membrane; Peripheral membrane protein; Cytoplasmic side.

Subcellular locations from

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 PEX14 gene
Compartment Confidence
peroxisome 5
nucleus 5
cytosol 3
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Peroxisomes (4)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PEX14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001650 fibrillar center IDA --
GO:0005622 intracellular IDA 21976670
GO:0005634 nucleus NAS 11863372
GO:0005777 peroxisome IEA,IDA 16449325
GO:0005778 peroxisomal membrane ISS,IEA --
genes like me logo Genes that share ontologies with PEX14: view

Pathways & Interactions for PEX14 Gene

SuperPathways for PEX14 Gene

SuperPathway Contained pathways
1 Peroxisome
genes like me logo Genes that share pathways with PEX14: view

Pathways by source for PEX14 Gene

1 KEGG pathway for PEX14 Gene

Gene Ontology (GO) - Biological Process for PEX14 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006461 protein complex assembly IDA 21525035
GO:0006810 transport IEA --
GO:0007031 peroxisome organization ISS --
GO:0015031 protein transport IEA --
GO:0016558 protein import into peroxisome matrix IMP 15146459
genes like me logo Genes that share ontologies with PEX14: view

No data available for SIGNOR curated interactions for PEX14 Gene

Drugs & Compounds for PEX14 Gene

(1) Drugs for PEX14 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with PEX14: view

Transcripts for PEX14 Gene

Unigene Clusters for PEX14 Gene

Peroxisomal biogenesis factor 14:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PEX14 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c ^ 13 ^ 14 ^ 15a · 15b
SP1: - - - - - - - - - -
SP2: - - - - - - - - - -
SP3: - - -
SP4: - - - - - - -
SP5: - - - - - - - - - -
SP6: -
SP7: - - - - - - - -
SP8: -
SP9: -

Relevant External Links for PEX14 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for PEX14 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PEX14 Gene

Protein differential expression in normal tissues from HIPED for PEX14 Gene

This gene is overexpressed in Breast (20.1), Testis (9.9), and Adrenal (9.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PEX14 Gene

Protein tissue co-expression partners for PEX14 Gene

NURSA nuclear receptor signaling pathways regulating expression of PEX14 Gene:


SOURCE GeneReport for Unigene cluster for PEX14 Gene:


Evidence on tissue expression from TISSUES for PEX14 Gene

  • Nervous system(4.7)
  • Liver(4.4)
  • Muscle(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PEX14 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
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
  • bronchus
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
  • abdominal wall
  • adrenal gland
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
  • ovary
  • pelvis
  • penis
  • testicle
  • ureter
  • urethra
  • uterus
  • vagina
  • 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
  • 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 PEX14: 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 PEX14 Gene

Orthologs for PEX14 Gene

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

Orthologs for PEX14 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PEX14 34 33
  • 99.56 (n)
(Canis familiaris)
Mammalia APITD1 34
  • 94 (a)
PEX14 33
  • 90.15 (n)
(Bos Taurus)
Mammalia PEX14 34 33
  • 91.67 (n)
(Rattus norvegicus)
Mammalia Pex14 33
  • 88.92 (n)
(Mus musculus)
Mammalia Pex14 16 34 33
  • 88.21 (n)
(Ornithorhynchus anatinus)
Mammalia PEX14 34
  • 70 (a)
(Monodelphis domestica)
Mammalia PEX14 34
  • 68 (a)
(Gallus gallus)
Aves PEX14 33 34
  • 77.69 (n)
(Anolis carolinensis)
Reptilia PEX14 34
  • 80 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia pex14 33
  • 69.09 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5437 33
(Danio rerio)
Actinopterygii pex14 34 33
  • 68.72 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006232 33
  • 46.77 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pex14 33 34
  • 46.02 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes PEX14 34 36
  • 23 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 32 (a)
Species where no ortholog for PEX14 was found in the sources mined by GeneCards:
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PEX14 Gene

Gene Tree for PEX14 (if available)
Gene Tree for PEX14 (if available)

Paralogs for PEX14 Gene

No data available for Paralogs for PEX14 Gene

Variants for PEX14 Gene

Sequence variations from dbSNP and Humsavar for PEX14 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs61752116 Pathogenic 10,624,405(+) AGATC(C/T)AGGAG reference, stop-gained
rs11539794 Likely benign 10,629,885(+) CTGGG(G/T)GTGCA reference, synonymous-codon
rs12070353 Likely benign 10,629,812(+) GAAGA(A/G)GGAGG reference, missense
rs2128414 Likely benign 10,629,867(-) TCCTC(A/C/G)TCCAC reference, synonymous-codon, missense
rs35046754 Likely benign 10,624,365(+) CTCGC(A/C)TCCGT reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for PEX14 Gene

Variant ID Type Subtype PubMed ID
nsv953454 CNV deletion 24416366
nsv8435 CNV gain 18304495
nsv828030 CNV gain 20364138
nsv818777 CNV loss 17921354
nsv545400 CNV loss 21841781
nsv545395 CNV loss 21841781
nsv517464 CNV loss 19592680
nsv2521 CNV deletion 18451855
nsv1122295 CNV deletion 24896259
nsv1015079 CNV loss 25217958
nsv1009596 CNV loss 25217958
esv3585202 CNV loss 21293372
esv3585201 CNV loss 21293372
esv3577734 CNV loss 25503493
esv3577733 CNV loss 25503493
esv29966 CNV loss 17803354
esv2764192 CNV gain 21179565
esv2758920 CNV gain+loss 17122850
esv275132 CNV loss 21479260
esv2743685 CNV deletion 23290073
esv2743674 CNV deletion 23290073
esv2665377 CNV deletion 23128226
esv2662921 CNV deletion 23128226
esv2421360 CNV deletion 20811451
dgv4n27 CNV loss 19166990
dgv105n54 CNV loss 21841781

Variation tolerance for PEX14 Gene

Residual Variation Intolerance Score: 70.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.22; 62.16% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PEX14 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX14 Gene

Disorders for PEX14 Gene

MalaCards: The human disease database

(6) MalaCards diseases for PEX14 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
peroxisome biogenesis disorder 13a
  • pbd13a
neonatal adrenoleukodystrophy
  • adrenoleukodystrophy autosomal neonatal form
peroxisome biogenesis disorder 1b
  • infantile refsum disease
peroxisome biogenesis disorders, zellweger syndrome spectrum
  • zellweger syndrome
zellweger syndrome
  • cerebrohepatorenal syndrome
- elite association - COSMIC cancer census association via MalaCards
Search PEX14 in MalaCards View complete list of genes associated with diseases


  • Peroxisome biogenesis disorder 13A (PBD13A) [MIM:614887]: 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:15146459}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder complementation group K (PBD-CGK) [MIM:614887]: 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:15146459}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PEX14

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with PEX14: view

No data available for Genatlas for PEX14 Gene

Publications for PEX14 Gene

  1. Identification of a human PTS1 receptor docking protein directly required for peroxisomal protein import. (PMID: 9653144) Fransen M … Subramani S (Proceedings of the National Academy of Sciences of the United States of America 1998) 2 3 4 22 60
  2. Identification of a new complementation group of the peroxisome biogenesis disorders and PEX14 as the mutated gene. (PMID: 15146459) Shimozawa N … Kondo N (Human mutation 2004) 3 4 22 60
  3. The peroxin Pex14p. cDNA cloning by functional complementation on a Chinese hamster ovary cell mutant, characterization, and functional analysis. (PMID: 10212238) Shimizu N … Fujiki Y (The Journal of biological chemistry 1999) 3 4 22 60
  4. PEX14 is required for microtubule-based peroxisome motility in human cells. (PMID: 21525035) Bharti P … Erdmann R (Journal of cell science 2011) 3 4 60
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 45 60

Products for PEX14 Gene

Sources for PEX14 Gene

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