Gene Gene information from NCBI Gene database.
Entrez ID 53938
Gene name Peptidylprolyl isomerase like 3
Gene symbol PPIL3
Synonyms (NCBI Gene)
CYPJ
Chromosome 2
Chromosome location 2q33.1
Summary This gene encodes a member of the cyclophilin family. Cyclophilins catalyze the cis-trans isomerization of peptidylprolyl imide bonds in oligopeptides. They have been proposed to act either as catalysts or as molecular chaperones in protein-folding events
miRNA miRNA information provided by mirtarbase database.
108
miRTarBase ID miRNA Experiments Reference
MIRT531280 hsa-miR-4789-3p PAR-CLIP 22012620
MIRT531279 hsa-miR-4643 PAR-CLIP 22012620
MIRT531278 hsa-miR-875-5p PAR-CLIP 22012620
MIRT531277 hsa-miR-5011-5p PAR-CLIP 22012620
MIRT531276 hsa-miR-103b PAR-CLIP 22012620
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
13
GO ID Ontology Definition Evidence Reference
GO:0000398 Process MRNA splicing, via spliceosome IC 11991638
GO:0003755 Function Peptidyl-prolyl cis-trans isomerase activity IBA
GO:0003755 Function Peptidyl-prolyl cis-trans isomerase activity IEA
GO:0005515 Function Protein binding IPI 16189514, 18474220, 22365833, 25416956, 32296183, 33961781
GO:0005654 Component Nucleoplasm TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
615811 9262 ENSG00000240344
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9H2H8
Protein name Peptidyl-prolyl cis-trans isomerase-like 3 (PPIase) (EC 5.2.1.8) (Cyclophilin J) (CyPJ) (Cyclophilin-like protein PPIL3) (Rotamase PPIL3)
Protein function PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. May be involved in pre-mRNA splicing.
PDB 1XYH , 2OJU , 2OK3 , 8C6J
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00160 Pro_isomerase 2 154 Cyclophilin type peptidyl-prolyl cis-trans isomerase/CLD Domain
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. Detected at low levels. {ECO:0000269|PubMed:11435694}.
Sequence
Sequence length 161
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  Reactome
    mRNA Splicing - Major Pathway
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
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
BASAL CELL CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ESTROGEN-RECEPTOR NEGATIVE BREAST CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IGA GLOMERULONEPHRITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Arthritis Rheumatoid Associate 29193869
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 27117709, 32965163
★☆☆☆☆
Found in Text Mining only
Neoplasms Associate 40642086
★☆☆☆☆
Found in Text Mining only
Urinary Bladder Neoplasms Associate 40642086
★☆☆☆☆
Found in Text Mining only