Gene Gene information from NCBI Gene database.
Entrez ID 441150
Gene name Peroxisomal biogenesis factor 39
Gene symbol PEX39
Synonyms (NCBI Gene)
C6orf226
Chromosome 6
Chromosome location 6p21.1
miRNA miRNA information provided by mirtarbase database.
18
miRTarBase ID miRNA Experiments Reference
MIRT851495 hsa-miR-1273g CLIP-seq
MIRT851496 hsa-miR-1286 CLIP-seq
MIRT851497 hsa-miR-1290 CLIP-seq
MIRT851498 hsa-miR-194 CLIP-seq
MIRT851499 hsa-miR-323-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
2
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25416956, 29892012, 31515488, 32296183
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
HGNC N/A HGNC
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5I0X4
Protein name Peroxisomal biogenesis factor 39
Protein function May be a peroxin involved in the PTS2-mediated protein import pathway.
Family and domains
Sequence
MERPRSPQCSAPASASASVTLAQLLQLVQQGQELPGLEKRHIAAIHGEPTASRLPRRPKP
WEAAALAESLPPPTLRIGTAPAEPGLVEAATAPSSWHTVGP
Sequence length 101
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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
CORONARY ARTERY DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
OCULAR SARCOIDOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations