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 virions. This protein interacts with the proteinase inhibitor eglin c and is localized in the nucleus. Alternatively spliced... See more...

Aliases for PPIL2 Gene

Aliases for PPIL2 Gene

  • Peptidylprolyl Isomerase Like 2 2 3 5
  • Probable Inactive Peptidyl-Prolyl Cis-Trans Isomerase-Like 2 3 4
  • Peptidylprolyl Isomerase (Cyclophilin)-Like 2 2 3
  • RING-Type E3 Ubiquitin-Protein Ligase PPIL2 3 4
  • Peptidyl-Prolyl Cis-Trans Isomerase-Like 2 2 3
  • U-Box Domain Containing 7 2 3
  • Cyclophilin-60 3 4
  • Rotamase PPIL2 3 4
  • HCyP-60 3 4
  • PPIase 3 4
  • CYC4 3 4
  • RING-Type E3 Ubiquitin Transferase Isomerase-Like 2 3
  • Peptidylprolyl Cis-Trans Isomerase 3
  • Cyclophilin-Like Protein CyP-60 3
  • Cyclophilin-Like Protein Cyp-60 4
  • Cyclophilin, 60kDa 3
  • EC 2.3.2.27 4
  • EC 5.2.1.8 54
  • Cyp-60 3
  • CYP60 3
  • UBOX7 3
  • Cyp60 4

External Ids for PPIL2 Gene

Previous GeneCards Identifiers for PPIL2 Gene

  • GC22P018719
  • GC22P020344
  • GC22P022006
  • GC22P004978
  • GC22P021782
  • GC22P021818
  • GC22P022159
  • GC22P022213
  • GC22P021834
  • GC22P021863
  • GC22P021878
  • GC22P021916
  • GC22P021955
  • GC22P021988
  • GC22P022034
  • GC22P022115

Summaries for PPIL2 Gene

Entrez Gene Summary for PPIL2 Gene

  • 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 virions. This protein interacts with the proteinase inhibitor eglin c and is localized in the nucleus. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Dec 2015]

GeneCards Summary for PPIL2 Gene

PPIL2 (Peptidylprolyl Isomerase Like 2) is a Protein Coding gene. Among its related pathways are Basigin interactions and Ubiquitin mediated proteolysis. Gene Ontology (GO) annotations related to this gene include ligase activity and ubiquitin protein ligase activity. An important paralog of this gene is PPWD1.

UniProtKB/Swiss-Prot Summary for PPIL2 Gene

  • 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 them for proteasomal degradation (PubMed:11435423). May also function as a chaperone, playing a role in transport to the cell membrane of BSG/Basigin for instance (PubMed:15946952). Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357).

Gene Wiki entry for PPIL2 Gene

Additional gene information for PPIL2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPIL2 Gene

Genomics for PPIL2 Gene

GeneHancer (GH) Regulatory Elements for PPIL2 Gene

Promoters and enhancers for PPIL2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPIL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PPIL2 gene promoter:
  • AML1a
  • E47
  • Hand1
  • HNF-4alpha1
  • HNF-4alpha2
  • NF-1
  • NF-1/L
  • PPAR-alpha
  • SRF
  • SRF (504 AA)

Genomic Locations for PPIL2 Gene

Genomic Locations for PPIL2 Gene
chr22:21,665,984-21,700,015
(GRCh38/hg38)
Size:
34,032 bases
Orientation:
Plus strand
chr22:22,006,559-22,054,304
(GRCh37/hg19)
Size:
47,746 bases
Orientation:
Plus strand

Genomic View for PPIL2 Gene

Genes around PPIL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPIL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPIL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPIL2 Gene

Proteins for PPIL2 Gene

  • Protein details for PPIL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13356-PPIL2_HUMAN
    Recommended name:
    RING-type E3 ubiquitin-protein ligase PPIL2
    Protein Accession:
    Q13356
    Secondary Accessions:
    • Q13357
    • Q8TAH2
    • Q9BWR8

    Protein attributes for PPIL2 Gene

    Size:
    520 amino acids
    Molecular mass:
    58823 Da
    Quaternary structure:
    • Interacts with BSG. Interacts (via the PPIase cyclophilin-type domain) with CRNKL1; they may form a trimeric complex with HSP90.

    Three dimensional structures from OCA and Proteopedia for PPIL2 Gene

    Alternative splice isoforms for PPIL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPIL2 Gene

Selected DME Specific Peptides for PPIL2 Gene

Q13356:
  • KHTIFGRV
  • CSLSLQPF
  • GDPTGTG
  • PKTCENF
  • DIITLQDP
  • GILSMAN

Post-translational modifications for PPIL2 Gene

  • Ubiquitination at Lys82 and Lys166
  • Modification sites at PhosphoSitePlus

Domains & Families for PPIL2 Gene

Gene Families for PPIL2 Gene

Suggested Antigen Peptide Sequences for PPIL2 Gene

GenScript: Design optimal peptide antigens:
  • Rotamase PPIL2 (PPIL2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q13356

UniProtKB/Swiss-Prot:

PPIL2_HUMAN :
  • Belongs to the cyclophilin-type PPIase family. PPIL2 subfamily.
Family:
  • Belongs to the cyclophilin-type PPIase family. PPIL2 subfamily.
genes like me logo Genes that share domains with PPIL2: view

Function for PPIL2 Gene

Molecular function for PPIL2 Gene

UniProtKB/Swiss-Prot 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 them for proteasomal degradation (PubMed:11435423). May also function as a chaperone, playing a role in transport to the cell membrane of BSG/Basigin for instance (PubMed:15946952). Probable inactive PPIase with no peptidyl-prolyl cis-trans isomerase activity (PubMed:20676357).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=S-ubiquitinyl-[E2 ubiquitin-conjugating enzyme]-L-cysteine + [acceptor protein]-L-lysine = [E2 ubiquitin-conjugating enzyme]-L-cysteine + N(6)-ubiquitinyl-[acceptor protein]-L-lysine.; EC=2.3.2.27; Evidence=. ;.
GENATLAS Biochemistry:
peptidylprolyl isomerase (cyclophilin)-like 2

Enzyme Numbers (IUBMB) for PPIL2 Gene

Phenotypes From GWAS Catalog for PPIL2 Gene

Gene Ontology (GO) - Molecular Function for PPIL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003755 NOT peptidyl-prolyl cis-trans isomerase activity IDA,IBA 20676357
GO:0004842 ubiquitin-protein transferase activity IEA --
GO:0005515 protein binding IPI 15946952
GO:0016018 NOT cyclosporin A binding IDA 20676357
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with PPIL2: view
genes like me logo Genes that share phenotypes with PPIL2: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPIL2

Clone Products

  • Addgene plasmids for PPIL2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPIL2 Gene

Localization for PPIL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPIL2 Gene

Nucleus. Note=May also localize to the cytoplasm and the cell membrane. {ECO:0000269 PubMed:15946952}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPIL2 gene
Compartment Confidence
plasma membrane 5
nucleus 5
golgi apparatus 4
cytosol 2

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PPIL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS,IBA 8660300
GO:0005654 nucleoplasm IDA --
GO:0005737 cytoplasm IDA 15946952
GO:0005796 Golgi lumen TAS --
GO:0005886 plasma membrane IDA 15946952
genes like me logo Genes that share ontologies with PPIL2: view

Pathways & Interactions for PPIL2 Gene

genes like me logo Genes that share pathways with PPIL2: view

Pathways by source for PPIL2 Gene

UniProtKB/Swiss-Prot Q13356-PPIL2_HUMAN

  • Pathway: Protein modification; protein ubiquitination.

Gene Ontology (GO) - Biological Process for PPIL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 11435423
GO:0000413 protein peptidyl-prolyl isomerization IBA 21873635
GO:0006457 protein folding IEA --
GO:0016567 protein ubiquitination IEA --
GO:0050900 leukocyte migration TAS --
genes like me logo Genes that share ontologies with PPIL2: view

No data available for SIGNOR curated interactions for PPIL2 Gene

Drugs & Compounds for PPIL2 Gene

No Compound Related Data Available

Transcripts for PPIL2 Gene

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPIL2

Clone Products

  • Addgene plasmids for PPIL2

Alternative Splicing Database (ASD) splice patterns (SP) for PPIL2 Gene

ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^ 17a · 17b · 17c ^ 18 ^ 19a ·
SP1: - -
SP2:
SP3:
SP4: -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

ExUns: 19b · 19c ^ 20 ^ 21a · 21b · 21c · 21d · 21e ^ 22a · 22b · 22c
SP1: -
SP2: - -
SP3: - -
SP4:
SP5:
SP6: -
SP7:
SP8:
SP9: - - - - -
SP10: - - - - - -

Relevant External Links for PPIL2 Gene

GeneLoc Exon Structure for
PPIL2
ECgene alternative splicing isoforms for
PPIL2

Expression for PPIL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for PPIL2 Gene

Protein differential expression in normal tissues from HIPED for PPIL2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (27.7) and CD8 Tcells (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PPIL2 Gene



Protein tissue co-expression partners for PPIL2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPIL2 Gene:

PPIL2

SOURCE GeneReport for Unigene cluster for PPIL2 Gene:

Hs.438587

mRNA Expression by UniProt/SwissProt for PPIL2 Gene:

Q13356-PPIL2_HUMAN
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 expression in lymph node (cortical, paracortical and medullar regions), thyroid (follicular epithelial cells), testis (developing spermatozoa), stomach (cells lining the gastric pit), pancreas, kidney (proximal and distal-tubule cells and collecting duct cells but not in glomeruli), endometrium and colon (goblet cells). Moderate protein expression in spleen, prostate (epithelium and squamous cell carcinomas), placenta and adrenal gland. Weak protein expression in liver, heart, breast, ovary, and lung. No protein expression in brain and bladder. High protein expression in most lymphomas and melanomas.

Evidence on tissue expression from TISSUES for PPIL2 Gene

  • Nervous system(4.9)
  • Blood(4.2)
  • Kidney(4.2)
genes like me logo Genes that share expression patterns with PPIL2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for PPIL2 Gene

Orthologs for PPIL2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPIL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPIL2 33 32
  • 99.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PPIL2 33 32
  • 90.19 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PPIL2 33 32
  • 87.56 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ppil2 32
  • 86.35 (n)
mouse
(Mus musculus)
Mammalia Ppil2 17 33 32
  • 85.83 (n)
oppossum
(Monodelphis domestica)
Mammalia PPIL2 33
  • 66 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPIL2 33 32
  • 74.9 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PPIL2 33
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ppil2 32
  • 71.91 (n)
African clawed frog
(Xenopus laevis)
Amphibia MGC53046 32
zebrafish
(Danio rerio)
Actinopterygii ppil2 33 32
  • 70.33 (n)
OneToOne
zgc56616 32
fruit fly
(Drosophila melanogaster)
Insecta CG7747 33 34 32
  • 59.78 (n)
OneToOne
CG11777 34
  • 50 (a)
worm
(Caenorhabditis elegans)
Secernentea cyp-10 34
  • 56 (a)
cyn-4 33 32
  • 53.03 (n)
OneToOne
cyp-16 34
  • 46 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes CPR5 33
  • 33 (a)
ManyToMany
CPR2 33
  • 33 (a)
ManyToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons PUB49 32
  • 51.84 (n)
rice
(Oryza sativa)
Liliopsida Os03g0201100 32
  • 50.57 (n)
Os.26947 32
barley
(Hordeum vulgare)
Liliopsida Hv.10850 32
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 59 (a)
OneToOne
Cin.2038 32
bread mold
(Neurospora crassa)
Ascomycetes NCU00181 32
  • 53.82 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cyp8 32
  • 51.37 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.2038 32
Species where no ortholog for PPIL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PPIL2 Gene

ENSEMBL:
Gene Tree for PPIL2 (if available)
TreeFam:
Gene Tree for PPIL2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PPIL2: view image

Paralogs for PPIL2 Gene

(18) SIMAP similar genes for PPIL2 Gene using alignment to 4 proteins:

  • PPIL2_HUMAN
  • C9JDF0_HUMAN
  • E7EW80_HUMAN
  • F8WC56_HUMAN

Pseudogenes.org Pseudogenes for PPIL2 Gene

genes like me logo Genes that share paralogs with PPIL2: view

Variants for PPIL2 Gene

Sequence variations from dbSNP and Humsavar for PPIL2 Gene

SNP ID Clin Chr 22 pos Variation AA Info Type
rs1000049776 -- 21,673,857(+) T/C genic_upstream_transcript_variant, intron_variant
rs1000081292 -- 21,683,077(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000116470 -- 21,666,557(+) A/C genic_upstream_transcript_variant, intron_variant
rs1000131533 -- 21,677,449(+) C/T genic_upstream_transcript_variant, intron_variant
rs1000171044 -- 21,667,068(+) G/C genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for PPIL2 Gene

Variant ID Type Subtype PubMed ID
dgv1293e212 CNV loss 25503493
nsv1136659 CNV deletion 24896259
nsv510804 CNV deletion 20534489
nsv528344 CNV loss 19592680
nsv7350 OTHER inversion 18451855

Variation tolerance for PPIL2 Gene

Residual Variation Intolerance Score: 27.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.97; 36.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PPIL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPIL2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPIL2 Gene

Disorders for PPIL2 Gene

Additional Disease Information for PPIL2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for PPIL2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for PPIL2 Gene

Publications for PPIL2 Gene

  1. Structural and biochemical characterization of the human cyclophilin family of peptidyl-prolyl isomerases. (PMID: 20676357) Davis TL … Dhe-Paganon S (PLoS biology 2010) 3 4 56
  2. Variation in RTN3 and PPIL2 genes does not influence platelet membrane beta-secretase activity or susceptibility to alzheimer's disease in the northern Irish population. (PMID: 19669607) Carson R … Johnston JA (Neuromolecular medicine 2009) 3 43 56
  3. Cell surface expression of CD147/EMMPRIN is regulated by cyclophilin 60. (PMID: 15946952) Pushkarsky T … Bukrinsky MI (The Journal of biological chemistry 2005) 3 4 56
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 56
  5. A genome annotation-driven approach to cloning the human ORFeome. (PMID: 15461802) Collins JE … Dunham I (Genome biology 2004) 3 4 56

Products for PPIL2 Gene

Sources for PPIL2 Gene