The protein encoded by this gene facilitates peroxisomal proliferation and interacts with PEX19. The encoded protein is found in the peroxisomal membrane. Several transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012] See more...

Aliases for PEX11B Gene

Aliases for PEX11B Gene

  • Peroxisomal Biogenesis Factor 11 Beta 2 3 5
  • Peroxisomal Biogenesis Factor 11B 2 3 4
  • Peroxisomal Membrane Protein 11B 3 4
  • Protein PEX11 Homolog Beta 3 4
  • Peroxin-11B 3 4
  • PEX11-BETA 3
  • PEX11-Beta 4
  • PEX14B 3
  • PEX11B 5

External Ids for PEX11B Gene

Previous GeneCards Identifiers for PEX11B Gene

  • GC01P144036
  • GC01P142103
  • GC01P143243
  • GC01P143265
  • GC01P143005
  • GC01P144227
  • GC01P145516
  • GC01P119479

Summaries for PEX11B Gene

Entrez Gene Summary for PEX11B Gene

  • The protein encoded by this gene facilitates peroxisomal proliferation and interacts with PEX19. The encoded protein is found in the peroxisomal membrane. Several transcript variants, some protein-coding and some not protein-coding, have been found for this gene. [provided by RefSeq, Dec 2012]

GeneCards Summary for PEX11B Gene

PEX11B (Peroxisomal Biogenesis Factor 11 Beta) is a Protein Coding gene. Diseases associated with PEX11B include Peroxisome Biogenesis Disorder 14B and Neonatal Adrenoleukodystrophy. Among its related pathways are Peroxisome. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity. An important paralog of this gene is PEX11A.

UniProtKB/Swiss-Prot Summary for PEX11B Gene

  • Involved in peroxisomal proliferation (PubMed:9792670). May regulate peroxisome division by recruiting the dynamin-related GTPase DNM1L to the peroxisomal membrane (PubMed:12618434). Promotes membrane protrusion and elongation on the peroxisomal surface (PubMed:20826455).

Gene Wiki entry for PEX11B Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PEX11B Gene

Genomics for PEX11B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PEX11B 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 PEX11B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PEX11B

Top Transcription factor binding sites by QIAGEN in the PEX11B gene promoter:
  • AML1a
  • E47
  • FAC1
  • GATA-2
  • Hand1
  • HNF-1
  • HNF-1A
  • HOXA3
  • Sox9

Genomic Locations for PEX11B Gene

Latest Assembly
chr1:145,911,348-145,918,717
(GRCh38/hg38)
Size:
7,370 bases
Orientation:
Minus strand

Previous Assembly
chr1:145,516,372-145,523,732
(GRCh37/hg19 by Entrez Gene)
Size:
7,361 bases
Orientation:
Plus strand

chr1:145,516,252-145,523,730
(GRCh37/hg19 by Ensembl)
Size:
7,479 bases
Orientation:
Plus strand

Genomic View for PEX11B Gene

Genes around PEX11B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PEX11B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PEX11B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PEX11B Gene

Proteins for PEX11B Gene

  • Protein details for PEX11B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O96011-PX11B_HUMAN
    Recommended name:
    Peroxisomal membrane protein 11B
    Protein Accession:
    O96011
    Secondary Accessions:
    • B3KN85
    • B4DXH9
    • Q96ET2

    Protein attributes for PEX11B Gene

    Size:
    259 amino acids
    Molecular mass:
    28431 Da
    Quaternary structure:
    • Homodimer (PubMed:20826455). Heterodimer with PEX11G (PubMed:20826455). Interacts with PEX19 (PubMed:10704444). Interacts with FIS1 (PubMed:20826455).

    Alternative splice isoforms for PEX11B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PEX11B Gene

Post-translational modifications for PEX11B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PEX11B Gene

No data available for DME Specific Peptides for PEX11B Gene

Domains & Families for PEX11B Gene

Gene Families for PEX11B Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for PEX11B Gene

InterPro:
Blocks:
  • Peroxisomal biogenesis factor 11

Suggested Antigen Peptide Sequences for PEX11B Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ55939, highly similar to Peroxisomal membrane protein 11B (B4DXH9_HUMAN)
  • Protein PEX11 homolog beta (PX11B_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O96011

UniProtKB/Swiss-Prot:

PX11B_HUMAN :
  • Belongs to the peroxin-11 family.
Family:
  • Belongs to the peroxin-11 family.
genes like me logo Genes that share domains with PEX11B: view

Function for PEX11B Gene

Molecular function for PEX11B Gene

UniProtKB/Swiss-Prot Function:
Involved in peroxisomal proliferation (PubMed:9792670). May regulate peroxisome division by recruiting the dynamin-related GTPase DNM1L to the peroxisomal membrane (PubMed:12618434). Promotes membrane protrusion and elongation on the peroxisomal surface (PubMed:20826455).

Phenotypes From GWAS Catalog for PEX11B Gene

Gene Ontology (GO) - Molecular Function for PEX11B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 10704444
GO:0042802 identical protein binding IPI 17408615
GO:0042803 protein homodimerization activity IDA 20826455
genes like me logo Genes that share ontologies with PEX11B: view
genes like me logo Genes that share phenotypes with PEX11B: view

Human Phenotype Ontology for PEX11B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PEX11B Gene

MGI Knock Outs for PEX11B:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PEX11B

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PEX11B Gene

Localization for PEX11B Gene

Subcellular locations from UniProtKB/Swiss-Prot for PEX11B 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 PEX11B gene
Compartment Confidence
peroxisome 5
mitochondrion 4
cytosol 2
plasma membrane 1
cytoskeleton 1
nucleus 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Nucleoplasm (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PEX11B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm IDA --
GO:0005739 mitochondrion IEA --
GO:0005777 peroxisome IEA,IDA 9922452
GO:0005778 peroxisomal membrane IBA,IDA 14709540
GO:0005779 integral component of peroxisomal membrane ISS --
genes like me logo Genes that share ontologies with PEX11B: view

Pathways & Interactions for PEX11B Gene

PathCards logo

SuperPathways for PEX11B Gene

SuperPathway Contained pathways
1 Peroxisome
genes like me logo Genes that share pathways with PEX11B: view

Pathways by source for PEX11B Gene

1 KEGG pathway for PEX11B Gene

Gene Ontology (GO) - Biological Process for PEX11B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007031 peroxisome organization ISS --
GO:0007165 signal transduction ISS --
GO:0016559 peroxisome fission IBA,IDA 9792670
GO:0044375 regulation of peroxisome size IBA,IDA 20826455
genes like me logo Genes that share ontologies with PEX11B: view

No data available for SIGNOR curated interactions for PEX11B Gene

Drugs & Compounds for PEX11B Gene

No Compound Related Data Available

Transcripts for PEX11B Gene

mRNA/cDNA for PEX11B Gene

2 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PEX11B

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for PEX11B Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6a · 6b · 6c
SP1: - - - - - -
SP2: - - - - -
SP3: - - - - - - -
SP4: - - - -
SP5: - - - -
SP6: -
SP7: - - -

Relevant External Links for PEX11B Gene

GeneLoc Exon Structure for
PEX11B

Expression for PEX11B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PEX11B Gene

Protein differential expression in normal tissues from HIPED for PEX11B Gene

This gene is overexpressed in Nasal epithelium (56.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PEX11B Gene



Protein tissue co-expression partners for PEX11B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PEX11B

SOURCE GeneReport for Unigene cluster for PEX11B Gene:

Hs.714608

Evidence on tissue expression from TISSUES for PEX11B Gene

  • Liver(4.4)
  • Eye(4.2)
  • Nervous system(4)
  • Kidney(2.1)
  • Skin(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PEX11B 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 PEX11B: view

Primer products for research

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 PEX11B Gene

Orthologs for PEX11B Gene

This gene was present in the common ancestor of animals.

Orthologs for PEX11B Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PEX11B 29 30
  • 99.87 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PEX11B 29 30
  • 92.64 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PEX11B 29 30
  • 91.76 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PEX11B 30
  • 90 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Pex11b 29 16 30
  • 89.32 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pex11b 29
  • 86.95 (n)
Lizard
(Anolis carolinensis)
Reptilia PEX11B 30
  • 68 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pex11b 29
  • 61.43 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC69071 29
Zebrafish
(Danio rerio)
Actinopterygii pex11b 29 30
  • 59.59 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Pex11 29 30
  • 44.31 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007812 29
  • 42.42 (n)
Species where no ortholog for PEX11B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • 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)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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 PEX11B Gene

ENSEMBL:
Gene Tree for PEX11B (if available)
TreeFam:
Gene Tree for PEX11B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PEX11B: view image
Alliance of Genome Resources:
Additional Orthologs for PEX11B

Paralogs for PEX11B Gene

Paralogs for PEX11B Gene

(1) SIMAP similar genes for PEX11B Gene using alignment to 2 proteins:

  • PX11B_HUMAN
  • H7C3V6_HUMAN
genes like me logo Genes that share paralogs with PEX11B: view

Variants for PEX11B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PEX11B Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1001871 Uncertain Significance: not provided 145,917,720(-) G/C
NM_003846.3(PEX11B):c.153C>G (p.His51Gln)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1007985 Uncertain Significance: not provided 145,917,731(-) G/C
NM_003846.3(PEX11B):c.142C>G (p.Leu48Val)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1010067 Uncertain Significance: not provided 145,912,531(-) C/T
NM_003846.3(PEX11B):c.410G>A (p.Arg137His)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1018354 Uncertain Significance: not provided 145,912,532(-) G/A
NM_003846.3(PEX11B):c.409C>T (p.Arg137Cys)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
1018833 Uncertain Significance: not provided 145,912,269(-) TTTGTCCAGA/T
NM_003846.3(PEX11B):c.663_671del (p.Asp223_Leu225del)
NON_CODING_TRANSCRIPT_VARIANT,INFRAME_DELETION

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PEX11B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PEX11B Gene

Variant ID Type Subtype PubMed ID
esv3587419 CNV gain 21293372
nsv1005055 CNV loss 25217958
nsv2710 CNV insertion 18451855
nsv831381 CNV gain 17160897

Variation tolerance for PEX11B Gene

Residual Variation Intolerance Score: 39% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.97; 20.04% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PEX11B Gene

Human Gene Mutation Database (HGMD)
PEX11B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PEX11B
Leiden Open Variation Database (LOVD)
PEX11B

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PEX11B Gene

Disorders for PEX11B Gene

MalaCards: The human disease database

(14) MalaCards diseases for PEX11B Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
peroxisome biogenesis disorder 14b
  • pex14b
neonatal adrenoleukodystrophy
  • adrenoleukodystrophy autosomal neonatal form
peroxisome biogenesis disorder 1b
  • pbd1b
zellweger syndrome
  • cerebrohepatorenal syndrome
peroxisomal biogenesis disorder
  • peroxisomal biogenesis disorders
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PX11B_HUMAN
  • Peroxisome biogenesis disorder 14B (PBD14B) [MIM:614920]: An autosomal recessive peroxisome biogenesis disorder characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy. Additionally, recurrent migraine-like episodes following mental stress or physical exertion, not a common feature in peroxisome disorders, are observed. {ECO:0000269 PubMed:22581968}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for PEX11B

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with PEX11B: view

No data available for Genatlas for PEX11B Gene

Publications for PEX11B Gene

  1. A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene. (PMID: 22581968) Ebberink MS … Waterham HR (Journal of medical genetics 2012) 3 4 72
  2. Expression of PEX11beta mediates peroxisome proliferation in the absence of extracellular stimuli. (PMID: 9792670) Schrader M … Gould SJ (The Journal of biological chemistry 1998) 2 3 4
  3. cDNA cloning and characterization of a constitutively expressed isoform of the human peroxin Pex11p. (PMID: 9826565) Abe I … Fujiki Y (Biochemical and biophysical research communications 1998) 3 4 22
  4. PEX11 family members are membrane elongation factors that coordinate peroxisome proliferation and maintenance. (PMID: 20826455) Koch J … Brocard C (Journal of cell science 2010) 3 4
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40

Products for PEX11B Gene

Sources for PEX11B Gene