Gene Gene information from NCBI Gene database.
Entrez ID 8799
Gene name Peroxisomal biogenesis factor 11 beta
Gene symbol PEX11B
Synonyms (NCBI Gene)
PEX11-BETAPEX11betaPEX14B
Chromosome 1
Chromosome location 1q21.1
Summary 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 th
SNPs SNP information provided by dbSNP.
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SNP ID Visualize variation Clinical significance Consequence
rs199515730 G>A Likely-pathogenic Stop gained, coding sequence variant, non coding transcript variant
rs200094067 A>G Conflicting-interpretations-of-pathogenicity Intron variant
rs781939614 G>A Pathogenic, likely-pathogenic Coding sequence variant, stop gained, non coding transcript variant
rs781984979 G>A Pathogenic Coding sequence variant, stop gained, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
284
miRTarBase ID miRNA Experiments Reference
MIRT005144 hsa-miR-30a-5p pSILAC 18668040
MIRT016374 hsa-miR-193b-3p Microarray 20304954
MIRT019825 hsa-miR-375 Microarray 20215506
MIRT005144 hsa-miR-30a-5p Proteomics;Other 18668040
MIRT032298 hsa-let-7b-5p Proteomics 18668040
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 10704444, 12096124, 14709540, 17408615, 18782765, 20531392, 20826455, 25416956, 29997244, 31467278, 32814053, 37398436
GO:0005654 Component Nucleoplasm IDA
GO:0005739 Component Mitochondrion IEA
GO:0005777 Component Peroxisome IDA 9922452, 10704444, 20826455
GO:0005777 Component Peroxisome IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603867 8853 ENSG00000131779
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O96011
Protein name Peroxisomal membrane protein 11B (Peroxin-11B) (Peroxisomal biogenesis factor 11B) (Protein PEX11 homolog beta) (PEX11-beta)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF05648 PEX11 1 251 Peroxisomal biogenesis factor 11 (PEX11) Family
Sequence
Sequence length 259
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Peroxisome   Class I peroxisomal membrane protein import
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Peroxisome biogenesis disorder Likely pathogenic rs1553753994 RCV002281809
Peroxisome biogenesis disorder 14B Likely pathogenic; Pathogenic rs782262926, rs1553754148, rs781984979, rs781939614, rs397515419 RCV002250187
RCV003340829
RCV000537988
RCV000525555
RCV000032935
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
PEX11B-related disorder Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign rs782128158, rs2101856089, rs782365743, rs781880014, rs184212399, rs1204141616, rs1553754025, rs587636847, rs201973197, rs1049689144, rs376116716, rs781844151, rs139422226 RCV003900494
RCV004756258
RCV003395298
RCV004756337
RCV004756350
RCV004731501
RCV003973877
RCV003959770
RCV003980095
RCV004755983
RCV004756023
RCV003892626
RCV003393838
Radial aplasia-thrombocytopenia syndrome Conflicting classifications of pathogenicity rs1553753971 RCV004731311
See cases Uncertain significance rs1553754382 RCV002252611
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Cataract Associate 28129423, 38423277
Cerebral Infarction Associate 36582228
Developmental Disabilities Associate 28129423, 38423277
Distal myopathy Nonaka type Associate 38423277
Dry Eye Syndromes Associate 38423277
Genetic Diseases Inborn Associate 38423277
Infections Associate 34524914
Inflammation Associate 36582228
Intellectual Disability Associate 38423277
Lymphoma Associate 28731463