Gene Gene information from NCBI Gene database.
Entrez ID 5824
Gene name Peroxisomal biogenesis factor 19
Gene symbol PEX19
Synonyms (NCBI Gene)
D1S2223EHK33PBD12APMP1PMPIPXFPXMP1
Chromosome 1
Chromosome location 1q23.2
Summary This gene is necessary for early peroxisomal biogenesis. It acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes.
SNPs SNP information provided by dbSNP.
6
SNP ID Visualize variation Clinical significance Consequence
rs139828188 A>G Conflicting-interpretations-of-pathogenicity, uncertain-significance Non coding transcript variant, synonymous variant, intron variant, coding sequence variant
rs142780305 A>C Conflicting-interpretations-of-pathogenicity, uncertain-significance Coding sequence variant, non coding transcript variant, missense variant
rs149058086 C>T Conflicting-interpretations-of-pathogenicity Synonymous variant, coding sequence variant, non coding transcript variant
rs267608186 ->T Pathogenic Non coding transcript variant, coding sequence variant, frameshift variant
rs869312934 G>A Pathogenic Coding sequence variant, stop gained, non coding transcript variant
miRNA miRNA information provided by mirtarbase database.
545
miRTarBase ID miRNA Experiments Reference
MIRT049884 hsa-miR-31-5p CLASH 23622248
MIRT046878 hsa-miR-221-3p CLASH 23622248
MIRT1225707 hsa-miR-106a CLIP-seq
MIRT1225708 hsa-miR-106b CLIP-seq
MIRT1225709 hsa-miR-17 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
37
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 10704444, 10777694, 11402059, 11590176, 11883941, 12096124, 12488033, 14709540, 15713480, 16189514, 16280322, 16344115, 16763195, 18174172, 18782765, 19114594, 19197237, 19715730, 20531392, 21102411, 21525035, 25416956, 25502805, 27107012, 28514442, 29997244, 31467278, 31515488, 322
GO:0005634 Component Nucleus IMP 12924628
GO:0005654 Component Nucleoplasm IDA
GO:0005737 Component Cytoplasm IDA 10051604, 14709540
GO:0005737 Component Cytoplasm IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600279 9713 ENSG00000162735
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P40855
Protein name Peroxisomal biogenesis factor 19 (33 kDa housekeeping protein) (Peroxin-19) (Peroxisomal farnesylated protein)
Protein function Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic
PDB 2W85 , 2WL8 , 3AJB , 3MK4 , 5LNF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04614 Pex19 74 299 Pex19 protein family Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitously expressed. Isoform 1 is strongly predominant in all tissues except in utero where isoform 2 is the main form. {ECO:0000269|PubMed:9339377}.
Sequence
Sequence length 299
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
12
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 rs1657873534 RCV005406281
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Peroxisome biogenesis disorder 12A (Zellweger) Likely pathogenic; Pathogenic rs1657837348, rs75072667, rs2101804905, rs1320716582, rs1657873534, rs2101804576, rs1240816309, rs2525325369, rs1480182464, rs113227300, rs2525316064, rs2525310842, rs2525319078, rs2525310933, rs1571138735 RCV001377207
RCV001379402
RCV001377337
RCV001782602
RCV002034201
View all (10 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Zellweger spectrum disorders Likely pathogenic rs2525316064, rs1461345139 RCV004017971
RCV004018310
★★★★☆
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
Familial cancer of breast Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Gastric cancer Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder Likely benign ClinVar
★★☆☆☆
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, Neonatal Adrenoleukodystrophy ORPHANET_DG
★☆☆☆☆
Found in Text Mining only
Angle Closure Glaucoma Angle Closure Glaucoma BEFREE 28586796
★☆☆☆☆
Found in Text Mining only
Atrial Septal Defects Atrial Septal Defect HPO_DG
★☆☆☆☆
Found in Text Mining only
Blepharoptosis Ptosis HPO_DG
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 36835467 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
Cataract Cataract HPO_DG
★☆☆☆☆
Found in Text Mining only
Central nervous system demyelination Central Nervous System Demyelination HPO_DG
★☆☆☆☆
Found in Text Mining only