Gene Gene information from NCBI Gene database.
Entrez ID 5192
Gene name Peroxisomal biogenesis factor 10
Gene symbol PEX10
Synonyms (NCBI Gene)
NALDPBD6APBD6BRNF69
Chromosome 1
Chromosome location 1p36.32
Summary This gene encodes a protein involved in import of peroxisomal matrix proteins. This protein localizes to the peroxisomal membrane. Mutations in this gene result in phenotypes within the Zellweger spectrum of peroxisomal biogenesis disorders, ranging from
SNPs SNP information provided by dbSNP.
36
SNP ID Visualize variation Clinical significance Consequence
rs61750434 G>A Pathogenic, likely-pathogenic 5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained
rs61750435 ->T Pathogenic Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant, downstream transcript variant
rs61752092 G>A,C Pathogenic Coding sequence variant, stop gained, non coding transcript variant, missense variant, genic downstream transcript variant, downstream transcript variant
rs61752093 AG>- Pathogenic Coding sequence variant, frameshift variant, non coding transcript variant, genic downstream transcript variant, downstream transcript variant
rs61752095 G>C Pathogenic Coding sequence variant, non coding transcript variant, missense variant, genic downstream transcript variant, downstream transcript variant
miRNA miRNA information provided by mirtarbase database.
103
miRTarBase ID miRNA Experiments Reference
MIRT490349 hsa-miR-4318 PAR-CLIP 23592263
MIRT490350 hsa-miR-3614-5p PAR-CLIP 23592263
MIRT490348 hsa-miR-4494 PAR-CLIP 23592263
MIRT490347 hsa-miR-499b-5p PAR-CLIP 23592263
MIRT490346 hsa-miR-4330 PAR-CLIP 23592263
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
39
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IDA 24662292
GO:0000425 Process Pexophagy IDA 26344566, 27597759
GO:0005515 Function Protein binding IPI 10562279, 10837480
GO:0005777 Component Peroxisome IDA 9922452
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
602859 8851 ENSG00000157911
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60683
Protein name Peroxisome biogenesis factor 10 (EC 2.3.2.27) (Peroxin-10) (Peroxisomal biogenesis factor 10) (Peroxisome assembly protein 10) (RING finger protein 69)
Protein function E3 ubiquitin-protein ligase component of a retrotranslocation channel required for peroxisome organization by mediating export of the PEX5 receptor from peroxisomes to the cytosol, thereby promoting PEX5 recycling (PubMed:24662292). The retrotra
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04757 Pex2_Pex12 18 243 Pex2 / Pex12 amino terminal region Family
PF13920 zf-C3HC4_3 269 315 Domain
Sequence
Sequence length 326
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
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
1131
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Lymphoma Pathogenic rs267608183 RCV005887335
Peroxisome biogenesis disorder Likely pathogenic; Pathogenic rs2100429450, rs1557910161, rs724160002, rs61752092, rs267608183, rs61750434, rs61750435, rs878853044, rs2522256588, rs62641225, rs61752093, rs2522278322, rs369965266, rs62636524 RCV002271928
RCV002283435
RCV003155088
RCV001844050
RCV001174563
RCV002222345
RCV000781707
RCV006268683
RCV003123553
RCV003155147
RCV000590803
RCV004765848
RCV001290646
RCV001290599
Peroxisome biogenesis disorder 6A (Zellweger) Likely pathogenic; Pathogenic rs770937339, rs531987102, rs1295555837, rs1384671249, rs2100429011, rs1553232917, rs1414973726, rs1557910161, rs724159999, rs724160000, rs724160002, rs61752092, rs749637005, rs2522280332, rs2522292110
View all (50 more)
RCV004570798
RCV003475123
RCV003473942
RCV003473984
RCV003475128
RCV004571723
RCV002250185
RCV003475327
RCV003474798
RCV000675117
RCV000665679
RCV000677268
RCV002306503
RCV002306677
RCV002306705
RCV002309587
RCV002307891
RCV002309503
RCV003475416
RCV000007172
RCV000670577
RCV000007176
RCV003475051
RCV000666568
RCV003475892
RCV000411962
RCV003476786
RCV003476787
RCV003476788
RCV003476789
RCV003476790
RCV003476791
RCV003476792
RCV003476793
RCV003476794
RCV003476795
RCV003476780
RCV003476781
RCV003476782
RCV003476783
RCV003476784
RCV003476785
RCV004573231
RCV004573261
RCV004574499
RCV004574500
RCV004574501
RCV000410037
RCV003476216
RCV000673610
RCV000664674
RCV000668691
RCV000670331
RCV000670303
RCV000665115
RCV000667148
RCV000669958
RCV000673106
RCV000674714
RCV000669210
RCV000670741
RCV000672634
RCV000668368
RCV000671772
RCV000671093
RCV000668448
RCV000668740
RCV003472269
RCV000778225
Peroxisome biogenesis disorder 6B Likely pathogenic; Pathogenic rs1553232917, rs724159999, rs724160000, rs724160002, rs61752092, rs749637005, rs2522280332, rs2522292110, rs2522260956, rs2522276946, rs2522275908, rs2522260588, rs267608183, rs61752095, rs61750434
View all (20 more)
RCV005006320
RCV000149809
RCV000149810
RCV000149812
RCV000149813
RCV002306503
RCV002306677
RCV002306705
RCV002309587
RCV002307891
RCV002309503
RCV002471396
RCV000983989
RCV000007173
RCV000007174
RCV000149808
RCV000666568
RCV000409050
RCV000411504
RCV000665998
RCV000673610
RCV000664674
RCV000668691
RCV000670331
RCV000670303
RCV000665115
RCV000667148
RCV000669958
RCV000673106
RCV000674714
RCV000669210
RCV000670741
RCV000672634
RCV000668368
RCV000671772
RCV000671093
RCV000668448
RCV000668740
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Acute myeloid leukemia Benign rs1143016 RCV005889184
Adrenocortical carcinoma, hereditary Benign rs1143016 RCV005889185
Colorectal cancer Benign rs1143016 RCV005889186
Familial cancer of breast Uncertain significance rs747776170 RCV005913535
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Azoospermia Associate 24303009
Azoospermia Nonobstructive Associate 30863997
Down Syndrome Associate 26911678
Infertility Male Associate 27232852, 30863997
Oligospermia Associate 24303009
Peroxisomal Disorders Associate 28784167
Peroxisome biogenesis disorders Associate 19105186
Polyneuropathies Associate 28784167
Spinocerebellar Degenerations Associate 34234304
Zellweger Syndrome Associate 19105186, 26319495, 28784167