Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8799
Gene name Gene Name - the full gene name approved by the HGNC.
Peroxisomal biogenesis factor 11 beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PEX11B
Synonyms (NCBI Gene) Gene synonyms aliases
PEX11-BETA, PEX11beta, PEX14B
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q21.1
Summary Summary of gene provided in NCBI Entrez 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 th
SNPs SNP information provided by dbSNP.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
603867 8853 ENSG00000131779
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Zellweger Syndrome peroxisome biogenesis disorder 14b rs397515419, rs781984979, rs781939614 N/A
Associations from Text Mining Disease 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