PEX13 (peroxisomal biogenesis factor 13)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5194
Gene name Gene Name - the full gene name approved by the HGNC.
Peroxisomal biogenesis factor 13
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PEX13
Synonyms (NCBI Gene) Gene synonyms aliases
NALD, PBD11A, PBD11B, ZWS
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p15
Summary Summary of gene provided in NCBI Entrez Gene.
This gene encodes a peroxisomal membrane protein that binds the type 1 peroxisomal targeting signal receptor via a SH3 domain located in the cytoplasm. Mutations and deficiencies in peroxisomal protein importing and peroxisome assembly lead to peroxisomal
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
SNP ID Visualize variation Clinical significance Consequence
rs61752113 T>G Pathogenic Coding sequence variant, missense variant
rs61752115 T>C Pathogenic Coding sequence variant, missense variant
rs104893661 G>A Pathogenic Coding sequence variant, stop gained
rs143378216 T>C Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
rs143972531 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(968)
miRTarBase ID miRNA Experiments Reference
MIRT003820 hsa-miR-197-3p Microarray 16822819
MIRT026063 hsa-miR-196a-5p Sequencing 20371350
MIRT159605 hsa-miR-590-3p PAR-CLIP 20371350
MIRT506245 hsa-miR-6838-3p PAR-CLIP 20371350
MIRT506244 hsa-miR-3140-5p PAR-CLIP 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(40)
GO ID Ontology Definition Evidence Reference
GO:0001561 Process Fatty acid alpha-oxidation IEA
GO:0001561 Process Fatty acid alpha-oxidation ISS
GO:0001764 Process Neuron migration IEA
GO:0001764 Process Neuron migration ISS
GO:0001967 Process Suckling behavior IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
601789 8855 ENSG00000162928
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q92968
Protein name Peroxisomal membrane protein PEX13 (Peroxin-13)
Protein function Component of the PEX13-PEX14 docking complex, a translocon channel that specifically mediates the import of peroxisomal cargo proteins bound to PEX5 receptor (PubMed:28765278, PubMed:8858165, PubMed:9653144). The PEX13-PEX14 docking complex form
PDB 7Z0I , 7Z0J , 7Z0K
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04088 Peroxin-13_N 117 → 254 Peroxin 13, N-terminal region Family
PF14604 SH3_9 279 → 332 Variant SH3 domain Domain
Sequence 
MASQPPPPPKPWETRRIPGAGPGPGPGPTFQSADLGPTLMTRPGQPALTRVPPPILPRPS
QQTGSSSVNTFRPAYSSFSSGYGAYGNSFYGGYSPYSYGYNGLGYNRLRVDDLPPSRFVQ
QAEESSRGAFQSIESIVHAFASVSMMMDATFSAVYNSFRAVLDVANHFSRLKIHFTKVFS
AFALVRTIRYLYRRLQRMLGLRRGSENEDLWAESEGTVACLGAEDRAATSAKSWPIFLFF
AVILGGPYLIWKLLSTHSDEVTDSINWASGEDDHVVARAEYDFAAVSEEEISFRAGDMLN
LALKEQQPKVRGWLLASLDGQTTGLIPANYVKILGKRKGRKTVESSKVSKQQQSFTNPTL
TKGATVADSLDEQEAAFESVFVETNKVPVAPDSIGKDGEKQDL
Sequence length 403
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Peroxisome   E3 ubiquitin ligases ubiquitinate target proteins
Peroxisomal protein import
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)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
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 11a (zellweger), peroxisome biogenesis disorder 11b, Peroxisome biogenesis disorder rs104893661, rs61752113, rs369851185, rs553968959, rs1559035738 N/A
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Erectile Dysfunction Erectile dysfunction N/A N/A GWAS
Show/Hide Text Mining Associations (12)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Anorchia Associate 35854306
Brain Diseases Associate 35854306
Deaf Blind Disorders Associate 35854306
Fever Associate 16006427
Genetic Diseases Inborn Associate 30122582
Intellectual Disability Associate 30122582
Mitochondrial Diseases Associate 35854306
Muscle Hypotonia Associate 35854306
Muscle Spasticity Associate 35854306
Neoplasms Associate 25119594, 35488273