Free for academic non-profit institutions. Other users need a Commercial license

Aliases for PEX16 Gene

Aliases for PEX16 Gene

  • Peroxisomal Biogenesis Factor 16 2 3 4 5
  • Peroxisomal Membrane Protein PEX16 3
  • Peroxisome Biogenesis Factor 16 3
  • Peroxin 16 3
  • Peroxin-16 4
  • PBD8A 3
  • PBD8B 3

External Ids for PEX16 Gene

Previous GeneCards Identifiers for PEX16 Gene

  • GC11M047715
  • GC11M046620
  • GC11M045962
  • GC11M045895
  • GC11M045887
  • GC11M045931
  • GC11M045638
  • GC11M047070
  • GC11M047917

Summaries for PEX16 Gene

Entrez Gene Summary for PEX16 Gene

  • The protein encoded by this gene is an integral peroxisomal membrane protein. An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD/CG9. Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis. Alternative splicing has been observed for this gene and two variants have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for PEX16 Gene

PEX16 (Peroxisomal Biogenesis Factor 16) is a Protein Coding gene. Diseases associated with PEX16 include peroxisome biogenesis disorder 8b and peroxisome biogenesis disorder 8a,. Among its related pathways are Peroxisome. GO annotations related to this gene include protein C-terminus binding.

UniProtKB/Swiss-Prot for PEX16 Gene

  • Required for peroxisome membrane biogenesis. May play a role in early stages of peroxisome assembly. Can recruit other peroxisomal proteins, such as PEX3 and PMP34, to de novo peroxisomes derived from the endoplasmic reticulum (ER). May function as receptor for PEX3.

Gene Wiki entry for PEX16 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX16 Gene

Genomics for PEX16 Gene

Regulatory Elements for PEX16 Gene

Promoters for PEX16 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around PEX16 on UCSC Golden Path with GeneCards custom track

Genomic Location for PEX16 Gene

Chromosome:
11
Start:
45,909,669 bp from pter
End:
45,918,812 bp from pter
Size:
9,144 bases
Orientation:
Minus strand

Genomic View for PEX16 Gene

Genes around PEX16 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX16 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEX16 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX16 Gene

Proteins for PEX16 Gene

  • Protein details for PEX16 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y5Y5-PEX16_HUMAN
    Recommended name:
    Peroxisomal membrane protein PEX16
    Protein Accession:
    Q9Y5Y5
    Secondary Accessions:
    • Q9BWB9

    Protein attributes for PEX16 Gene

    Size:
    336 amino acids
    Molecular mass:
    38629 Da
    Quaternary structure:
    • Interacts with PEX19.

    Alternative splice isoforms for PEX16 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PEX16 Gene

Proteomics data for PEX16 Gene at MOPED

Post-translational modifications for PEX16 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PEX16 Gene

Domains & Families for PEX16 Gene

Gene Families for PEX16 Gene

Protein Domains for PEX16 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PEX16 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y5Y5

UniProtKB/Swiss-Prot:

PEX16_HUMAN :
  • Belongs to the peroxin-16 family.
Family:
  • Belongs to the peroxin-16 family.
genes like me logo Genes that share domains with PEX16: view

Function for PEX16 Gene

Molecular function for PEX16 Gene

UniProtKB/Swiss-Prot Function:
Required for peroxisome membrane biogenesis. May play a role in early stages of peroxisome assembly. Can recruit other peroxisomal proteins, such as PEX3 and PMP34, to de novo peroxisomes derived from the endoplasmic reticulum (ER). May function as receptor for PEX3.
genes like me logo Genes that share phenotypes with PEX16: view

Human Phenotype Ontology for PEX16 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PEX16 Gene

MGI Knock Outs for PEX16:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for PEX16 Gene

Localization for PEX16 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX16 Gene

Peroxisome membrane; Multi-pass membrane protein. Endoplasmic reticulum membrane.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PEX16 Gene COMPARTMENTS Subcellular localization image for PEX16 gene
Compartment Confidence
endoplasmic reticulum 5
peroxisome 5
cytosol 2
mitochondrion 1
nucleus 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for PEX16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005778 peroxisomal membrane IDA 21525035
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with PEX16: view

Pathways & Interactions for PEX16 Gene

SuperPathways for PEX16 Gene

Superpath Contained pathways
1 Peroxisome
genes like me logo Genes that share pathways with PEX16: view

Pathways by source for PEX16 Gene

1 KEGG pathway for PEX16 Gene

Gene Ontology (GO) - Biological Process for PEX16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006625 protein targeting to peroxisome IMP 9837814
GO:0016557 peroxisome membrane biogenesis IMP 9837814
GO:0016558 protein import into peroxisome matrix IMP 9922452
genes like me logo Genes that share ontologies with PEX16: view

No data available for SIGNOR curated interactions for PEX16 Gene

Drugs & Compounds for PEX16 Gene

No Compound Related Data Available

Transcripts for PEX16 Gene

Unigene Clusters for PEX16 Gene

Peroxisomal biogenesis factor 16:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for PEX16 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12a · 12b · 12c
SP1: -
SP2: - -
SP3: -
SP4: -

Relevant External Links for PEX16 Gene

GeneLoc Exon Structure for
PEX16
ECgene alternative splicing isoforms for
PEX16

Expression for PEX16 Gene

mRNA expression in normal human tissues for PEX16 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PEX16 Gene

This gene is overexpressed in Bone (44.3) and Lung (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for PEX16 Gene



SOURCE GeneReport for Unigene cluster for PEX16 Gene Hs.100915

genes like me logo Genes that share expression patterns with PEX16: view

Protein tissue co-expression partners for PEX16 Gene

In Situ Assay Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PEX16 Gene

Orthologs for PEX16 Gene

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

Orthologs for PEX16 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PEX16 36
  • 99 (a)
OneToOne
PEX16 35
  • 99.5 (n)
  • 99.7 (a)
cow
(Bos Taurus)
Mammalia PEX16 35
  • 91.17 (n)
  • 93.05 (a)
PEX16 36
  • 88 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PEX16 36
  • 88 (a)
OneToOne
PEX16 35
  • 91.07 (n)
  • 92.86 (a)
mouse
(Mus musculus)
Mammalia Pex16 16
Pex16 36
  • 87 (a)
OneToOne
Pex16 35
  • 86.9 (n)
  • 91.07 (a)
oppossum
(Monodelphis domestica)
Mammalia PEX16 36
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PEX16 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pex16 35
  • 83.82 (n)
  • 87.23 (a)
chicken
(Gallus gallus)
Aves PEX16 35
  • 71.69 (n)
  • 74.06 (a)
PEX16 36
  • 69 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PEX16 36
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pex16 35
  • 61.86 (n)
  • 57.96 (a)
Str.8967 35
zebrafish
(Danio rerio)
Actinopterygii Dr.16594 35
pex16 35
  • 67.76 (n)
  • 68.66 (a)
pex16 36
  • 64 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002283 35
  • 50.37 (n)
  • 41.64 (a)
fruit fly
(Drosophila melanogaster)
Insecta Pex16 35
  • 50.2 (n)
  • 39.57 (a)
CG3947 37
  • 36 (a)
Pex16 36
  • 33 (a)
OneToOne
bread mold
(Neurospora crassa)
Ascomycetes NCU01850 35
  • 41.61 (n)
  • 28.1 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4212 36
  • 30 (a)
OneToOne
Species with no ortholog for PEX16:
  • 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • 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 PEX16 Gene

ENSEMBL:
Gene Tree for PEX16 (if available)
TreeFam:
Gene Tree for PEX16 (if available)

Paralogs for PEX16 Gene

No data available for Paralogs for PEX16 Gene

Variants for PEX16 Gene

Sequence variations from dbSNP and Humsavar for PEX16 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type
rs35214605 - 45,914,138(+) TGGAC(C/G/T)TGACC reference, missense
rs11553094 - 45,915,755(-) CCAAG(A/G/T)TGTGG reference, missense
rs10742772 - 45,915,716(+) CTGGA(C/T)GAGGG reference, missense
VAR_069209 Peroxisome biogenesis disorder 8B (PBD8B)
VAR_069210 Peroxisome biogenesis disorder 8B (PBD8B)

Structural Variations from Database of Genomic Variants (DGV) for PEX16 Gene

Variant ID Type Subtype PubMed ID
nsv897314 CNV Loss 21882294
nsv516442 CNV Loss 19592680

Variation tolerance for PEX16 Gene

Residual Variation Intolerance Score: 59.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.44; 54.73% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PEX16 Gene

HapMap Linkage Disequilibrium report
PEX16
Human Gene Mutation Database (HGMD)
PEX16

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX16 Gene

Disorders for PEX16 Gene

MalaCards: The human disease database

(18) MalaCards diseases for PEX16 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
peroxisome biogenesis disorder 8b
  • pbd8b
peroxisome biogenesis disorder 8a,
  • peroxisome biogenesis disorder 8a
peroxisome biogenesis disorder 1b
  • infantile refsum disease
neonatal adrenoleukodystrophy
  • adrenoleukodystrophy autosomal neonatal form
bile acid synthesis defect, congenital, 5
  • congenital bile acid synthesis defect 5
- elite association - COSMIC cancer census association via MalaCards
Search PEX16 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PEX16_HUMAN
  • Peroxisome biogenesis disorder complementation group 9 (PBD-CG9) [MIM:614876]: 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:9837814}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 8A (PBD8A) [MIM:614876]: 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:9837814}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Peroxisome biogenesis disorder 8B (PBD8B) [MIM:614877]: A relatively mild peroxisome biogenesis disorder. Affected individuals manifest lower limb spasticity and ataxia resulting in wheelchair dependence. Other features include optic atrophy, cataracts, dysarthria, dysphagia, constipation, and a peripheral demyelinating motor and sensory neuropathy. Cognition is relatively preserved. Biochemical abnormalities are mild and include increased very-long-chain fatty acids (VLCFA), increased bile acid intermediates, and increased branched chain fatty acids. Phytanic acid alpha-oxidation, pristanic acid beta-oxidation, and red cell plasmalogen are normal. {ECO:0000269 PubMed:20647552}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PEX16

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PEX16
genes like me logo Genes that share disorders with PEX16: view

No data available for Genatlas for PEX16 Gene

Publications for PEX16 Gene

  1. Peroxisome synthesis in the absence of preexisting peroxisomes. (PMID: 9922452) South S.T. … Gould S.J. (J. Cell Biol. 1999) 2 3 4 67
  2. A novel aberrant splicing mutation of the PEX16 gene in two patients with Zellweger syndrome. (PMID: 11890679) Shimozawa N. … Kondo N. (Biochem. Biophys. Res. Commun. 2002) 3 23
  3. Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D. (PMID: 9837814) Honsho M. … Fujiki Y. (Am. J. Hum. Genet. 1998) 3 23
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. A proteome-scale map of the human interactome network. (PMID: 25416956) Rolland T. … Vidal M. (Cell 2014) 3

Products for PEX16 Gene

Sources for PEX16 Gene

Back to Top

Content