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Aliases for PEX11B Gene

Aliases for PEX11B Gene

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

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 Peroxisome Biogenesis Disorder 1B. 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 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

Additional gene information for PEX11B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PEX11B Gene

Genomics for PEX11B Gene

GeneHancer (GH) Regulatory Elements for PEX11B Gene

Promoters and enhancers for PEX11B 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
GH01J145917 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 650.7 +0.1 102 2.8 HDGF ARNT ZFP64 ARID4B NEUROD1 SIN3A YY1 POLR2B E2F8 ZNF143 PEX11B GNRHR2 ANKRD35 HJV ENSG00000213240 POLR3C LIX1L-AS1 ITGA10 RBM8A
GH01J145990 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.1 -76.4 -76418 10.5 CLOCK MLX FEZF1 DMAP1 IRF4 YY1 SLC30A9 E2F8 NFYC MEF2D TXNIP PIR35110 POLR3C NBPF20 LIX1L-AS1 PIAS3 GPR89A ENSG00000213240 HJV RBM8A
GH01J145954 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE 12.1 -37.8 -37775 4.2 HDGF PKNOX1 CLOCK SMAD1 ARNT ARID4B SIN3A YBX1 DMAP1 YY1 LIX1L LIX1L-AS1 POLR3C RBM8A PEX11B GNRHR2 TXNIP ITGA10 HJV ENSG00000213240
GH01J145959 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 12.4 -43.6 -43576 6.2 HDGF PKNOX1 CLOCK SMAD1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 LIX1L ENSG00000278431 POLR3GL POLR3C LIX1L-AS1 RBM8A TXNIP PEX11B GNRHR2 ENSG00000213240
GH01J145976 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11.3 -63.4 -63359 10.6 CLOCK YBX1 FEZF1 IRF4 YY1 ZNF213 E2F8 ZNF143 SP3 NFYC POLR3GL NBPF20 POLR3C GPR89A PIAS3 ANKRD35 HJV RBM8A LIX1L-AS1 PEX11B
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for PEX11B Gene

Genomic Locations for PEX11B Gene
chr1:145,911,348-145,918,924
(GRCh38/hg38)
Size:
7,577 bases
Orientation:
Minus strand
chr1:145,516,165-145,523,732
(GRCh37/hg19)
Size:
7,568 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

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PEX11B Gene

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: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:

Animal Model Products

Clone Products

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
extracellular 5
peroxisome 5
mitochondrion 3
plasma membrane 1
nucleus 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for PEX11B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005777 peroxisome IEA,IDA 9922452
GO:0005778 peroxisomal membrane IEA,IDA 14709540
GO:0005779 integral component of peroxisomal membrane ISS --
GO:0016020 membrane HDA,IEA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PEX11B: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PEX11B Gene

Pathways & Interactions for PEX11B Gene

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 IDA 9792670
GO:0044375 regulation of peroxisome size IDA 20826455
GO:0051260 protein homooligomerization IDA 17408615
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

Unigene Clusters for PEX11B Gene

Peroxisomal biogenesis factor 11 beta:
Representative Sequences:

Clone Products

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
ECgene alternative splicing isoforms for
PEX11B

Expression for PEX11B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

NURSA nuclear receptor signaling pathways regulating expression of PEX11B Gene:

PEX11B

SOURCE GeneReport for Unigene cluster for PEX11B Gene:

Hs.714608

Evidence on tissue expression from TISSUES for PEX11B Gene

  • Eye(4.2)
  • Liver(4.2)
  • Nervous system(3.8)

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

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 34 33
  • 99.87 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PEX11B 34 33
  • 92.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PEX11B 34 33
  • 91.76 (n)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PEX11B 34
  • 90 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Pex11b 16 34 33
  • 89.32 (n)
rat
(Rattus norvegicus)
Mammalia Pex11b 33
  • 86.95 (n)
lizard
(Anolis carolinensis)
Reptilia PEX11B 34
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pex11b 33
  • 61.43 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC69071 33
zebrafish
(Danio rerio)
Actinopterygii pex11b 34 33
  • 59.59 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Pex11 34 33
  • 44.31 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP007812 33
  • 42.42 (n)
Species where no ortholog for PEX11B 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)
  • 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 squirt (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

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 from dbSNP and Humsavar for PEX11B Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs397515419 pathogenic, Peroxisome biogenesis disorder 14B 145,917,809(-) G/A coding_sequence_variant, intron_variant, non_coding_transcript_variant, stop_gained
rs781939614 pathogenic, Peroxisome biogenesis disorder 14B 145,916,914(-) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs781984979 pathogenic, Peroxisome biogenesis disorder 14B 145,912,346(-) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs199515730 likely-pathogenic, not provided 145,912,475(-) G/A coding_sequence_variant, non_coding_transcript_variant, stop_gained
rs148000769 uncertain-significance, not specified 145,912,458(-) T/C coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

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

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

Disorders for PEX11B Gene

MalaCards: The human disease database

(4) MalaCards diseases for PEX11B Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
peroxisome biogenesis disorder 14b
  • pex14b
peroxisome biogenesis disorder 1b
  • pbd1b
neonatal adrenoleukodystrophy
  • adrenoleukodystrophy autosomal neonatal form
peroxisome disorders
  • peroxisomal disease
- 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 mutations affecting the gene represented in this entry.

Additional Disease Information for PEX11B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PEX11B: view

No data available for Genatlas for PEX11B Gene

Publications for PEX11B Gene

  1. 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 58
  2. 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 58
  3. 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 58
  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 58
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 44 58

Products for PEX11B Gene

Sources for PEX11B Gene

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