Gene Gene information from NCBI Gene database.
Entrez ID 23759
Gene name Peptidylprolyl isomerase like 2
Gene symbol PPIL2
Synonyms (NCBI Gene)
CYC4CYP60Cyp-60UBOX7hCyP-60
Chromosome 22
Chromosome location 22q11.21-q11.22
Summary This gene is a member of the cyclophilin family of peptidylprolyl isomerases. The cyclophilins are a highly conserved ubiquitous family, members of which play an important role in protein folding, immunosuppression by cyclosporin A, and infection of HIV-1
miRNA miRNA information provided by mirtarbase database.
191
miRTarBase ID miRNA Experiments Reference
MIRT049857 hsa-miR-31-5p CLASH 23622248
MIRT046489 hsa-miR-15b-5p CLASH 23622248
MIRT639221 hsa-miR-4668-3p HITS-CLIP 23824327
MIRT639220 hsa-miR-6507-5p HITS-CLIP 23824327
MIRT639219 hsa-miR-500a-5p HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
25
GO ID Ontology Definition Evidence Reference
GO:0000209 Process Protein polyubiquitination IDA 11435423
GO:0003755 Function Peptidyl-prolyl cis-trans isomerase activity IDA 20676357
GO:0004842 Function Ubiquitin-protein transferase activity IEA
GO:0005515 Function Protein binding IPI 15946952, 22365833, 25416956, 33961781
GO:0005634 Component Nucleus IDA 11435423, 15946952
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607588 9261 ENSG00000100023
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q13356
Protein name RING-type E3 ubiquitin-protein ligase PPIL2 (EC 2.3.2.27) (CYC4) (Cyclophilin-60) (Cyclophilin-like protein Cyp-60) (Cyp60) (hCyP-60) (Probable inactive peptidyl-prolyl cis-trans isomerase-like 2) (PPIase) (Rotamase PPIL2)
Protein function Has a ubiquitin-protein ligase activity acting as an E3 ubiquitin protein ligase or as an ubiquitin-ubiquitin ligase promoting elongation of ubiquitin chains on substrates. By mediating 'Lys-48'-linked polyubiquitination of proteins could target
PDB 1ZKC , 7ABI , 7DVQ , 7QTT , 8CH6 , 8I0P , 8I0R , 8I0S , 8I0T
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00160 Pro_isomerase 281 433 Cyclophilin type peptidyl-prolyl cis-trans isomerase/CLD Domain
Tissue specificity TISSUE SPECIFICITY: Highest expression in thymus, pancreas and testis. Also detected in heart, placenta, lung, liver, skeletal muscle, kidney, spleen, prostate, ovary, small intestine and colon. Poorly detected in brain and leukocytes. Strong protein expr
Sequence
MGKRQHQKDKMYITCAEYTHFYGGKKPDLPQTNFRRLPFDHCSLSLQPFVYPVCTPDGIV
FDLLNIVPWLKKYGTNPSNGEKLDGRSLIKLNFSKNSEGKYHCPVLFTVFTNNTHIVAVR
TTGNVYAYEAVEQLNIKAKNFRDLLTDEPFSRQDIITLQDPTNLDKFNVSNFYHVKNNMK
IIDPDEEKAKQDPSYYLKNTNAETRETLQELYKEFKGDEILAATMKAPEKKKVDKLNAAH
YSTGKVSASFTSTAMVPETTHEAAAIDEDVLRYQFVKKKGYVRLHTNKGDLNLELHCDLT
PKTCENFIRLCKKHYYDGTIFHRSIRNFVIQGGDPTGTGTGGESYWGKPFKDEFRPNLSH
TGRGILSMANSGPNSNRSQFFITFRSCAYLDKKHTIFGRVVGGFDVLTAMENVESDPKTD
RPKEEIRIDATTV
FVDPYEEADAQIAQERKTQLKVAPETKVKSSQPQAGSQGPQTFRQGV
GKYINPAATKRAAEEEPSTSATVPMSKKKPSRGFGDFSSW
Sequence length 520
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Ubiquitin mediated proteolysis   Basigin interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
6
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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
DEMENTIA GWAS catalog
★★☆☆☆
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
Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis BEFREE 28011744
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 15946952 Associate
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 29352246
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 29352246 Inhibit
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 1 Diabetes mellitus, type 1 Pubtator 29990590 Associate
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus, Insulin-Dependent Diabetes Mellitus BEFREE 29310926
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer BEFREE 29352246
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 29352246
★☆☆☆☆
Found in Text Mining only
Parkinson Disease Parkinson disease BEFREE 31830361
★☆☆☆☆
Found in Text Mining only
Stomach Diseases Stomach Diseases BEFREE 29148176
★☆☆☆☆
Found in Text Mining only