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 (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
17
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 Likely pathogenic; Pathogenic rs267608191, rs62641228, rs61752129, rs267608190, rs1556586479, rs61752136 RCV002509745
RCV000780589
RCV000780590
RCV002509142
RCV000589459
View all (1 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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
View all (43 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
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
View all (29 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
PEX26-related disorder Pathogenic rs62641228, rs2517663841 RCV003390634
RCV004755018
★★★★☆
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
Cervical cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Familial cancer of breast Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Heimler syndrome 1 Uncertain significance ClinVar
Disgenet
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
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 12851857
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy, Neonatal Adrenoleukodystrophy GENOMICS_ENGLAND_DG
★☆☆☆☆
Found in Text Mining only
Adrenoleukodystrophy, Neonatal Adrenoleukodystrophy ORPHANET_DG
★☆☆☆☆
Found in Text Mining only
Adrenomyeloneuropathy Adrenomyeloneuropathy CTD_human_DG 12851857
★☆☆☆☆
Found in Text Mining only
Amelogenesis Imperfecta Amelogenesis imperfecta GENOMICS_ENGLAND_DG 28944237
★☆☆☆☆
Found in Text Mining only
Atrial Fibrillation Atrial Fibrillation GWASCAT_DG 29892015, 30061737
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
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