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... See more...

Aliases for PEX16 Gene

Aliases for PEX16 Gene

  • Peroxisomal Biogenesis Factor 16 2 3 4 5
  • Peroxisomal Membrane Protein PEX16 3 4
  • 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
  • GC11M055784
  • GC11M055991
  • GC11M050774
  • GC11M051569
  • GC11M052231
  • GC11M052891
  • GC11M053559
  • GC11M054225
  • GC11M054891
  • GC11M055588

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. Gene Ontology (GO) annotations related to this gene include protein C-terminus binding.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for PEX16 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PEX16 Gene

Genomics for PEX16 Gene

GeneHancer (GH) Regulatory Elements for PEX16 Gene

Promoters and enhancers for PEX16 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J045916 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 750.6 +0.2 202 4.4 E2F8 SIN3A SP1 ZBTB40 ZBTB6 POLR2A NR2F6 CREB1 HCFC1 MYC PEX16 ZNF408 ENSG00000244313 AMBRA1 CHST1 lnc-C11orf94-4
GH11J045921 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE dbSUPER 750.6 -3.9 -3872 3 TCF7L2 L3MBTL2 CBFA2T2 NCOA6 SP5 EGR1 GLIS2 ZIC2 RFX1 ZBTB8A LARGE2 PEX16 AMBRA1 lnc-PEX16-1
GH11J045879 Enhancer 1.2 Ensembl ENCODE dbSUPER 13 +37.8 37750 3.2 SMARCE1 TEAD4 NFIB CBFA2T2 SP7 ZSCAN21 PRDM1 SMARCA4 TRIM24 EGR1 MAPK8IP1 C11orf94 ENSG00000255498 LARGE2 PEX16 LINC02716 HE855927 CRY2
GH11J045854 Enhancer 1 ENCODE CraniofacialAtlas dbSUPER 11.5 +60.7 60710 6.2 FOXA1 RAD21 SP1 ZIC2 POLR2A RXRA PRDM10 ZXDB JUND OSR2 MAPK8IP1 C11orf94 ENSG00000255498 LARGE2 PEX16 LINC02716 SLC35C1 CRY2 HE855927
GH11J045959 Enhancer 0.6 Ensembl 11.3 -41.8 -41789 1.6 SP1 CEBPG RXRA CEBPB ATF3 YY1 ZBTB33 NR2F2 RAD21 HNF4A LARGE2 PEX16 C11orf94 ENSG00000255498 lnc-PEX16-2 piR-43106-034 PHF21A
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PEX16 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PEX16 gene promoter:
  • AML1a
  • c-Myb
  • C/EBPalpha
  • CHOP-10
  • E47
  • Egr-2
  • FOXJ2
  • FOXJ2 (long isoform)
  • Gfi-1
  • HFH-1

Genomic Locations for PEX16 Gene

Genomic Locations for PEX16 Gene
chr11:45,909,663-45,918,812
(GRCh38/hg38)
Size:
9,150 bases
Orientation:
Minus strand
chr11:45,931,220-45,940,363
(GRCh37/hg19)
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

No data available for DME Specific Peptides for PEX16 Gene

Domains & Families for PEX16 Gene

Gene Families for PEX16 Gene

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

Protein Domains for PEX16 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PEX16 Gene

GenScript: Design optimal peptide antigens:
  • Peroxisomal biogenesis factor 16 (PEX16_HUMAN)

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.

Phenotypes From GWAS Catalog for PEX16 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PEX16

Clone 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.

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
mitochondrion 1
nucleus 1
plasma membrane 0

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 IBA,IEA 21873635
GO:0005779 integral component of peroxisomal membrane IMP 9922452
GO:0005783 endoplasmic reticulum IDA 19479899
GO:0005789 endoplasmic reticulum membrane IDA 16717127
genes like me logo Genes that share ontologies with PEX16: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PEX16 Gene

Pathways & Interactions for PEX16 Gene

PathCards logo

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,IEA 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

Drugs & Compounds for PEX16 Gene

No Compound Related Data Available

Transcripts for PEX16 Gene

mRNA/cDNA for PEX16 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PEX16

Clone 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, 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)
  • Nervous system(2.2)

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
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 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 33 32
  • 99.5 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PEX16 33 32
  • 91.17 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PEX16 33 32
  • 91.07 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pex16 17 33 32
  • 86.9 (n)
rat
(Rattus norvegicus)
Mammalia Pex16 32
  • 83.82 (n)
oppossum
(Monodelphis domestica)
Mammalia PEX16 33
  • 79 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PEX16 33
  • 74 (a)
OneToOne
chicken
(Gallus gallus)
Aves PEX16 33 32
  • 71.69 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PEX16 33
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pex16 32
  • 61.86 (n)
Str.8967 32
zebrafish
(Danio rerio)
Actinopterygii pex16 33 32
  • 67.76 (n)
OneToOne
Dr.16594 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002283 32
  • 50.37 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pex16 33 32
  • 50.2 (n)
OneToOne
CG3947 34
  • 36 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01850 32
  • 41.61 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.4212 33
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PEX16: view image

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 Variation AA Info Type
rs10838529 benign, Peroxisome biogenesis disorder 1A (Zellweger) 45,909,951(-) G/A 3_prime_UTR_variant
rs1132349 benign, not specified, Peroxisome biogenesis disorder 1A (Zellweger), not provided 45,913,833(-) A/C/G/T coding_sequence_variant, stop_gained, synonymous_variant
rs11553094 benign, not specified, not provided, - 45,915,755(-) C/A/G/T coding_sequence_variant, missense_variant
rs140695185 uncertain-significance, not provided, Peroxisome biogenesis disorder 8A, Peroxisome biogenesis disorder 8B 45,914,684(-) T/C coding_sequence_variant, missense_variant
rs143868125 likely-benign, uncertain-significance, Peroxisome biogenesis disorder 1A (Zellweger) 45,909,878(-) C/G/T 3_prime_UTR_variant

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)

Additional Variant Information for PEX16 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PEX16 Gene

MalaCards: The human disease database

(7) MalaCards diseases for PEX16 Gene - From: HGMD, OMIM, ClinVar, Orphanet, DISEASES, Novoseek, and GeneCards

- 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.

Additional Disease Information for 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 ST … Gould SJ (The Journal of cell biology 1999) 2 3 4 56
  2. Mutation in PEX16 is causal in the peroxisome-deficient Zellweger syndrome of complementation group D. (PMID: 9837814) Honsho M … Fujiki Y (American journal of human genetics 1998) 3 4 23 56
  3. Sec16B is involved in the endoplasmic reticulum export of the peroxisomal membrane biogenesis factor peroxin 16 (Pex16) in mammalian cells. (PMID: 21768384) Yonekawa S … Tani K (Proceedings of the National Academy of Sciences of the United States of America 2011) 3 4 56
  4. Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene. (PMID: 20647552) Ebberink MS … Ferdinandusse S (Journal of medical genetics 2010) 3 4 56
  5. The origin and maintenance of mammalian peroxisomes involves a de novo PEX16-dependent pathway from the ER. (PMID: 16717127) Kim PK … Lippincott-Schwartz J (The Journal of cell biology 2006) 3 4 56

Products for PEX16 Gene

Sources for PEX16 Gene