Gene Gene information from NCBI Gene database.
Entrez ID 5194
Gene name Peroxisomal biogenesis factor 13
Gene symbol PEX13
Synonyms (NCBI Gene)
NALDPBD11APBD11BZWS
Chromosome 2
Chromosome location 2p15
Summary 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.
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.
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 (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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 identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601789 8855 ENSG00000162928
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
AVILGGPYLIWKLL
STHSDEVTDSINWASGEDDHVVARAEYDFAAVSEEEISFRAGDMLN
LALKEQQPKVRGWLLASLDGQTTGLIPANYVK
ILGKRKGRKTVESSKVSKQQQSFTNPTL
TKGATVADSLDEQEAAFESVFVETNKVPVAPDSIGKDGEKQDL
Sequence length 403
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Peroxisome   E3 ubiquitin ligases ubiquitinate target proteins
Peroxisomal protein import
Class I peroxisomal membrane protein import
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Peroxisome biogenesis disorder Pathogenic rs1680453822, rs2467508347, rs553968959 RCV002283360
RCV003388223
RCV004782516
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peroxisome biogenesis disorder 11A (Zellweger) Likely pathogenic; Pathogenic rs2104803776, rs2104803129, rs2104803395, rs2104803491, rs2104803205, rs1178588746, rs1288976071, rs2104812709, rs1680453822, rs1330624821, rs2467507433, rs2467508461, rs2467508700, rs1168492424, rs104893661
View all (15 more)
RCV001377147
RCV002293256
RCV001920585
RCV001875686
RCV002002402
View all (25 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Peroxisome biogenesis disorder 11B Pathogenic rs2104803395, rs61752113 RCV002285029
RCV000416325
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
PEX13-related disorder Pathogenic; Likely pathogenic rs2467508347, rs146554084, rs772323218 RCV003335888
RCV004554253
RCV004548757
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cervical cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ERECTILE DYSFUNCTION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Addison Disease Addison`s Disease HPO_DG
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy Adrenoleukodystrophy CTD_human_DG 10441568
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy, Neonatal Adrenoleukodystrophy BEFREE 16006427
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy, Neonatal Adrenoleukodystrophy ORPHANET_DG
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy, Neonatal Adrenoleukodystrophy GENOMICS_ENGLAND_DG
★☆☆☆☆
Found in Text Mining only
Adrenomyeloneuropathy Adrenomyeloneuropathy CTD_human_DG 10441568
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Brain Diseases Brain disease Pubtator 35854306 Associate
★☆☆☆☆
Found in Text Mining only
Byzanthine arch palate High palate HPO_DG
★☆☆☆☆
Found in Text Mining only
Cardiomyopathies Cardiomyopathy HPO_DG
★☆☆☆☆
Found in Text Mining only