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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
  • GC11M050774
  • GC11M051569
  • GC11M052231

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX16 Gene

Genomics for PEX16 Gene

Regulatory Elements for PEX16 Gene

Enhancers for PEX16 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
GH11G045854 1.5 Ensembl ENCODE dbSUPER 11.5 +60.7 60711 6.2 ATF1 PKNOX1 CREB3L1 SIN3A YY1 TCF12 ELK1 FOS ZNF263 JUNB MAPK8IP1 C11orf94 ENSG00000255498 PEX16 LARGE2 DKFZp779M0652 SLC35C1 CRY2
GH11G045879 1.2 ENCODE dbSUPER 13 +37.7 37679 3.1 PKNOX1 ATF1 SIN3A TCF12 GLIS2 ELK1 FOS JUNB TSHZ1 REST ENSG00000255498 C11orf94 LARGE2 PEX16 MAPK8IP1 DKFZp779M0652 CRY2
GH11G045941 0.9 dbSUPER 13 -23.4 -23383 2.3 HDAC1 ATF1 PKNOX1 CBX3 SIN3A YBX1 RAD21 YY1 GATA2 ZNF143 LARGE2 PEX16 C11orf94 ENSG00000255498 ENSG00000254653
GH11G045862 0.8 dbSUPER 11.4 +55.4 55371 1.1 RB1 SAP130 ZMYM3 ARID4B SIN3A RBBP5 ZSCAN9 YY1 GLIS2 ZNF766 C11orf94 ENSG00000255498 PEX16 LARGE2 LOC101928812 CRY2 MAPK8IP1
GH11G045944 0.5 ENCODE 12.5 -26.8 -26837 2.2 ARID1B NFIC TAL1 IKZF1 LARGE2 PEX16 ENSG00000255498 C11orf94 SLC35C1 ENSG00000254653
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PEX16 on UCSC Golden Path with GeneCards custom track

Promoters for PEX16 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000039459 712 1801 HDGF PKNOX1 ARNT ARID4B SIN3A YY1 ZNF766 ZNF143 ZNF207 DEK

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

Post-translational modifications for PEX16 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Abcam antibodies for PEX16

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.

Gene Ontology (GO) - Molecular Function for PEX16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12096124
GO:0008022 protein C-terminus binding IPI 15713480
genes like me logo Genes that share ontologies with PEX16: view
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 Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , 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
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 PEX16 gene
Compartment Confidence
peroxisome 5
endoplasmic reticulum 5
cytosol 2
plasma membrane 1
mitochondrion 1
nucleus 1

Gene Ontology (GO) - Cellular Components for PEX16 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IDA,IEA 9837814
GO:0005778 peroxisomal membrane IEA,IDA 21525035
GO:0005779 integral component of peroxisomal membrane IMP 9922452
GO:0005783 endoplasmic reticulum IEA,IDA 19479899
GO:0005789 endoplasmic reticulum membrane IDA,IEA 16717127
genes like me logo Genes that share ontologies with PEX16: view

Pathways & Interactions for PEX16 Gene

SuperPathways for PEX16 Gene

SuperPathway 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:0007031 peroxisome organization IMP 15813749
GO:0016557 peroxisome membrane biogenesis IMP 9837814
GO:0016558 protein import into peroxisome matrix IMP 9922452
GO:0022615 protein to membrane docking IDA 19114594
genes like me logo Genes that share ontologies with PEX16: view

No data available for SIGNOR curated interactions for PEX16 Gene

Transcripts for PEX16 Gene

Unigene Clusters for PEX16 Gene

Peroxisomal biogenesis factor 16:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for PEX16 Gene



Protein tissue co-expression partners for PEX16 Gene

NURSA nuclear receptor signaling pathways regulating expression of PEX16 Gene:

PEX16

SOURCE GeneReport for Unigene cluster for PEX16 Gene:

Hs.100915

Evidence on tissue expression from TISSUES for PEX16 Gene

  • Lung(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PEX16 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
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 PEX16: view

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 34 35
  • 99.5 (n)
cow
(Bos Taurus)
Mammalia PEX16 34 35
  • 91.17 (n)
dog
(Canis familiaris)
Mammalia PEX16 34 35
  • 91.07 (n)
mouse
(Mus musculus)
Mammalia Pex16 34 16 35
  • 86.9 (n)
rat
(Rattus norvegicus)
Mammalia Pex16 34
  • 83.82 (n)
oppossum
(Monodelphis domestica)
Mammalia PEX16 35
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PEX16 35
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves PEX16 34 35
  • 71.69 (n)
lizard
(Anolis carolinensis)
Reptilia PEX16 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pex16 34
  • 61.86 (n)
Str.8967 34
zebrafish
(Danio rerio)
Actinopterygii pex16 34 35
  • 67.76 (n)
Dr.16594 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002283 34
  • 50.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pex16 34 35
  • 50.2 (n)
CG3947 36
  • 36 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01850 34
  • 41.61 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4212 35
  • 30 (a)
OneToOne
Species where no ortholog for PEX16 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)
  • 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
rs397514472 Pathogenic, Peroxisome biogenesis disorder 8B (PBD8B) [MIM:614877] 45,910,273(-) AATCT(A/G)CTTCT intron-variant, reference, missense
VAR_069209 Peroxisome biogenesis disorder 8B (PBD8B) [MIM:614877]
rs61752117 Pathogenic 45,914,619(-) TGGTG(C/T)GAACC reference, stop-gained
rs797045062 Likely pathogenic 45,910,268(-) CTACT(-/TCT)ACAGT intron-variant, cds-indel
rs2280328 Likely benign 45,909,816(-) TTCTC(C/T)GCAGG downstream-variant-500B, utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
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

Human Gene Mutation Database (HGMD)
PEX16
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PEX16

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

Disorders for PEX16 Gene

MalaCards: The human disease database

(8) MalaCards diseases for PEX16 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, 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
peroxisome biogenesis disorders, zellweger syndrome spectrum
  • zellweger syndrome
- 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 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.
  • 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.

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 64
  2. 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 4 22 64
  3. Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. (PMID: 20647552) Ebberink M.S. … Ferdinandusse S. (J. Med. Genet. 2010) 3 4 64
  4. The origin and maintenance of mammalian peroxisomes involves a de novo PEX16-dependent pathway from the ER. (PMID: 16717127) Kim P.K. … Lippincott-Schwartz J. (J. Cell Biol. 2006) 3 4 64
  5. PEX19 is a predominantly cytosolic chaperone and import receptor for class 1 peroxisomal membrane proteins. (PMID: 14709540) Jones J.M. … Gould S.J. (J. Cell Biol. 2004) 3 4 64

Products for PEX16 Gene

Sources for PEX16 Gene

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