Gene Gene information from NCBI Gene database.
Entrez ID 55670
Gene name Peroxisomal biogenesis factor 26
Gene symbol PEX26
Synonyms (NCBI Gene)
PBD7APBD7BPEX26M1TPex26pM1T
Chromosome 22
Chromosome location 22q11.21
Summary This gene belongs to the peroxin-26 gene family. It is probably required for protein import into peroxisomes. It anchors PEX1 and PEX6 to peroxisome membranes, possibly to form heteromeric AAA ATPase complexes required for the import of proteins into pero
SNPs SNP information provided by dbSNP.
20
SNP ID Visualize variation Clinical significance Consequence
rs28940308 G>A Pathogenic Coding sequence variant, missense variant
rs61752129 C>-,CC Pathogenic Frameshift variant, coding sequence variant
rs61752132 T>C Uncertain-significance, pathogenic Coding sequence variant, missense variant
rs61752133 ->T Pathogenic Frameshift variant, coding sequence variant
rs62641228 C>G,T Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
679
miRTarBase ID miRNA Experiments Reference
MIRT050399 hsa-miR-23a-3p CLASH 23622248
MIRT622837 hsa-miR-5193 HITS-CLIP 19536157
MIRT633711 hsa-miR-660-3p HITS-CLIP 19536157
MIRT622836 hsa-miR-4324 HITS-CLIP 19536157
MIRT622835 hsa-miR-544b HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
23
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 15713480, 16189514, 16257970, 16763195, 16854980, 20531392, 32296183, 32814053
GO:0005777 Component Peroxisome IBA
GO:0005777 Component Peroxisome IDA 15858711, 16257970, 16763195
GO:0005777 Component Peroxisome IEA
GO:0005778 Component Peroxisomal membrane IDA 12717447
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
608666 22965 ENSG00000215193
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q7Z412
Protein name Peroxisome assembly protein 26 (Peroxin-26)
Protein function Peroxisomal docking factor that anchors PEX1 and PEX6 to peroxisome membranes (PubMed:12717447, PubMed:12851857, PubMed:16257970, PubMed:16763195, PubMed:16854980, PubMed:21362118). PEX26 is therefore required for the formation of the PEX1-PEX6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07163 Pex26 1 302 Pex26 protein Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed (PubMed:12851857). Highly expressed in kidney, liver, brain and skeletal muscles (PubMed:12851857). Expressed at intermediate level in pancreas, placenta and heart (PubMed:12851857). Weakly expressed in lung (PubMed:12
Sequence
Sequence length 305
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Peroxisome   Peroxisomal protein import
Class I peroxisomal membrane protein import
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
999
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Peroxisome biogenesis disorder Likely pathogenic; Pathogenic rs267608191, rs62641228, rs61752129, rs267608190, rs1556586479, rs61752136 RCV002509745
RCV000780589
RCV000780590
RCV002509142
RCV000589459
RCV001192671
Peroxisome biogenesis disorder 7A (Zellweger) Pathogenic; Likely pathogenic rs2123654642, rs61752129, rs2123647622, rs1926794975, rs267608191, rs2123657331, rs62641228, rs28940308, rs74315506, rs61752133, rs267608190, rs768272302, rs1569185857, rs1926705172, rs2517673461
View all (29 more)
RCV003772139
RCV001806692
RCV001823684
RCV001919904
RCV002018562
RCV002012478
RCV000812717
RCV000002236
RCV000002237
RCV000779366
RCV000002243
RCV000002242
RCV002780465
RCV002796609
RCV002825709
RCV003032845
RCV003047047
RCV003228760
RCV003476815
RCV003476816
RCV003476817
RCV003476818
RCV003476819
RCV003476820
RCV003779069
RCV003476822
RCV003476823
RCV003476824
RCV003783748
RCV003783749
RCV003779431
RCV003784529
RCV003786920
RCV003807900
RCV003807723
RCV003798677
RCV003797440
RCV003800446
RCV003804855
RCV003815697
RCV004574509
RCV004574510
RCV000416954
RCV003767341
RCV001390132
RCV003473790
RCV001231938
RCV001246197
Peroxisome biogenesis disorder 7B Pathogenic; Likely pathogenic rs2123654642, rs1926794975, rs267608191, rs2123657331, rs62641228, rs28940308, rs61752129, rs74315506, rs61752133, rs267608190, rs768272302, rs1569185857, rs1926705172, rs2517673461, rs2517673366
View all (18 more)
RCV003772139
RCV001919904
RCV002018562
RCV002012478
RCV000002234
RCV005222658
RCV000662021
RCV000002239
RCV000002241
RCV001851574
RCV002780465
RCV002796609
RCV002825709
RCV003032845
RCV003047047
RCV003779068
RCV003779069
RCV003783748
RCV003783749
RCV003779431
RCV003784529
RCV003786920
RCV003807900
RCV003807723
RCV003798677
RCV003797440
RCV003800446
RCV003804855
RCV003815697
RCV003767341
RCV001390132
RCV001227495
RCV001231938
RCV001246197
PEX26-related disorder Pathogenic rs62641228, rs2517663841 RCV003390634
RCV004755018
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs361946 RCV005897522
Familial cancer of breast Uncertain significance rs12484897 RCV005913876
Gastric cancer Benign rs361946 RCV005897523
Heimler syndrome 1 Uncertain significance rs768604587 RCV001726460
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Deafness enamel hypoplasia nail defects Associate 31831025
Hearing Loss Associate 30446579
Lung Neoplasms Associate 34074205
Melanoma Associate 34074205
Neoplasms Associate 34074205
Nonsyndromic Deafness Associate 30446579
Peroxisome biogenesis disorders Associate 15858711, 16257970, 19105186
Refsum Disease Infantile Associate 16257970
Zellweger Syndrome Associate 16257970, 19105186, 26319495, 30446579