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    PPIL2 peptidylprolyl isomerase like 2 [ Homo sapiens (human) ]

    Gene ID: 23759, updated on 10-Dec-2024

    Summary

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    Official Symbol
    PPIL2provided by HGNC
    Official Full Name
    peptidylprolyl isomerase like 2provided by HGNC
    Primary source
    HGNC:HGNC:9261
    See related
    Ensembl:ENSG00000100023 MIM:607588; AllianceGenome:HGNC:9261
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    CYC4; CYP60; UBOX7; Cyp-60; hCyP-60
    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 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]
    Expression
    Ubiquitous expression in thyroid (RPKM 15.3), lymph node (RPKM 12.4) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PPIL2 in Genome Data Viewer
    Location:
    22q11.21-q11.22
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 22 NC_000022.11 (21666012..21700015)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 22 NC_060946.1 (22079481..22113495)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 22 NC_000022.10 (22020301..22054304)

    Chromosome 22 - NC_000022.11Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:22006726-22007397 Neighboring gene uncharacterized LOC107985532 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13513 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr22:22020233-22021143 Neighboring gene microRNA 301b Neighboring gene microRNA 130b Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22029290-22029497 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:22035719-22036220 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr22:22041165-22041665 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18702 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18703 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr22:22064332-22065531 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18704 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22068158-22068316 Neighboring gene yippee like 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22077940-22078170 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22084296-22084483 Neighboring gene RNA, 7SL, cytoplasmic 280, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13514 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 13515 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_63007 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18705 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18706 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18707 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22112788-22113234 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18708 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18709 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 18710 Neighboring gene mitogen-activated protein kinase 1 Neighboring gene ReSE screen-validated silencer GRCh37_chr22:22144051-22144194 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr22:22145734-22146933 Neighboring gene RNA, 5S ribosomal pseudogene 493

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. Identification of a nuclear-specific cyclophilin which interacts with the proteinase inhibitor eglin c. Wang BB, et al. Biochem J, 1996 Feb 15. PMID 8660300, Free PMC Article
    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. Carson R, et al. Neuromolecular Med, 2009. PMID 19669607
    3. U-box ubiquitin ligase PPIL2 suppresses breast cancer invasion and metastasis by altering cell morphology and promoting SNAI1 ubiquitination and degradation. Jia Z, et al. Cell Death Dis, 2018 Jan 19. PMID 29352246, Free PMC Article
    4. Cell surface expression of CD147/EMMPRIN is regulated by cyclophilin 60. Pushkarsky T, et al. J Biol Chem, 2005 Jul 29. PMID 15946952
    5. PLK1-mediated phosphorylation of PPIL2 regulates HR via CtIP. Qiu Z, et al. Front Cell Dev Biol, 2022. PMID 36092721, Free PMC Article

    See all (66) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. common genetic variation in the BACE1-interacting proteins, RTN3 an PPIL2, does not influence platelet b-secretase activity or susceptibility to Alzheimer's disease in this population.
      Title: 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.
    2. Observational study of gene-disease association. (HuGE Navigator)
      Title: 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.
    3. cyclophilin 60 regulates cell surface expression of CD147/EMMPRIN
      Title: Cell surface expression of CD147/EMMPRIN is regulated by cyclophilin 60.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC787, FLJ39930, MGC33174

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    NOT enables peptidyl-prolyl cis-trans isomerase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables ubiquitin protein ligase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables ubiquitin protein ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables ubiquitin-ubiquitin ligase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in RNA splicing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in mRNA processing IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in protein folding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in protein localization to plasma membrane IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    acts_upstream_of_or_within protein polyubiquitination IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi lumen TAS
    Traceable Author Statement
    more info
    		  
    part_of catalytic step 2 spliceosome IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleus TAS
    Traceable Author Statement
    more info
    		 PubMed 
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    RING-type E3 ubiquitin-protein ligase PPIL2
    Names
    PPIase
    RING-type E3 ubiquitin transferase isomerase-like 2
    U-box domain containing 7
    cyclophilin, 60kDa
    cyclophilin-60
    cyclophilin-like protein CyP-60
    peptidyl-prolyl cis-trans isomerase-like 2
    peptidylprolyl cis-trans isomerase
    peptidylprolyl isomerase (cyclophilin)-like 2
    probable inactive peptidyl-prolyl cis-trans isomerase-like 2
    rotamase PPIL2
    NP_001304925.1
    NP_055152.1
    NP_680480.1
    NP_680481.1
    XP_011528343.1
    XP_011528345.1
    XP_011528348.1
    XP_011528351.1
    XP_024307961.1
    XP_047297223.1
    XP_047297224.1
    XP_054181380.1
    XP_054181381.1
    XP_054181382.1
    XP_054181383.1
    XP_054181384.1
    XP_054181385.1
    XP_054181386.1

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001317996.2 → NP_001304925.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform a

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks a segment in the 3' UTR compared to variant 1. Variants 1, 2 and 4 encode the same isoform (a).
      Source sequence(s)
      AP000553
      Consensus CDS
      CCDS13793.1
      UniProtKB/Swiss-Prot
      Q13356, Q13357, Q8TAH2, Q9BWR8
      UniProtKB/TrEMBL
      A8K0I0
      Related
      ENSP00000506144.1, ENST00000679795.1
      Conserved Domains (4) summary
      cd01923
      Location:281 → 440
      cyclophilin_RING; cyclophilin-type peptidylprolyl cis- trans isomerases (cyclophilins) having a modified RING finger domain. This group includes the nuclear proteins, Human hCyP-60 and Caenorhabditis elegans MOG-6 which, compared to the archetypal cyclophilin Human ...
      cd00162
      Location:103 → 146
      RING_Ubox; U-box domain, a modified RING finger [structural motif]
      cd16663
      Location:38 → 110
      RING-Ubox_PPIL2; U-box domain, a modified RING finger, found in peptidyl-prolyl cis-trans isomerase-like 2 (PPIL2) and similar proteins
      cl17238
      Location:100 → 159
      RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

    2. NM_014337.4 → NP_055152.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform a

      See identical proteins and their annotated locations for NP_055152.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 4 encode the same isoform (a).
      Source sequence(s)
      AP000553
      Consensus CDS
      CCDS13793.1
      UniProtKB/Swiss-Prot
      Q13356, Q13357, Q8TAH2, Q9BWR8
      UniProtKB/TrEMBL
      A8K0I0
      Related
      ENSP00000381812.3, ENST00000398831.8
      Conserved Domains (4) summary
      cd01923
      Location:281 → 440
      cyclophilin_RING; cyclophilin-type peptidylprolyl cis- trans isomerases (cyclophilins) having a modified RING finger domain. This group includes the nuclear proteins, Human hCyP-60 and Caenorhabditis elegans MOG-6 which, compared to the archetypal cyclophilin Human ...
      cd00162
      Location:103 → 146
      RING_Ubox; U-box domain, a modified RING finger [structural motif]
      cd16663
      Location:38 → 110
      RING-Ubox_PPIL2; U-box domain, a modified RING finger, found in peptidyl-prolyl cis-trans isomerase-like 2 (PPIL2) and similar proteins
      cl17238
      Location:100 → 159
      RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

    3. NM_148175.3 → NP_680480.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform a

      See identical proteins and their annotated locations for NP_680480.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks a segment in the 3' UTR compared to variant 1. Variants 1, 2 and 4 encode the same isoform (a).
      Source sequence(s)
      AA743164, AK127259, AP000553, BC028385, DA863607, U37221
      Consensus CDS
      CCDS13793.1
      UniProtKB/Swiss-Prot
      Q13356, Q13357, Q8TAH2, Q9BWR8
      UniProtKB/TrEMBL
      A8K0I0
      Related
      ENSP00000334553.7, ENST00000335025.12
      Conserved Domains (4) summary
      cd01923
      Location:281 → 440
      cyclophilin_RING; cyclophilin-type peptidylprolyl cis- trans isomerases (cyclophilins) having a modified RING finger domain. This group includes the nuclear proteins, Human hCyP-60 and Caenorhabditis elegans MOG-6 which, compared to the archetypal cyclophilin Human ...
      cd00162
      Location:103 → 146
      RING_Ubox; U-box domain, a modified RING finger [structural motif]
      cd16663
      Location:38 → 110
      RING-Ubox_PPIL2; U-box domain, a modified RING finger, found in peptidyl-prolyl cis-trans isomerase-like 2 (PPIL2) and similar proteins
      cl17238
      Location:100 → 159
      RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

    4. NM_148176.3 → NP_680481.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform b

      See identical proteins and their annotated locations for NP_680481.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) uses an alternate acceptor splice site in the 3' coding region that results in a frameshift compared to variant 1. The encoded isoform (b) contains a longer and distinct C-terminus compared to isoform a.
      Source sequence(s)
      AK127259, BC000022, BC028385, DA863607
      Consensus CDS
      CCDS46670.1
      UniProtKB/TrEMBL
      A8K0I0
      Related
      ENSP00000486725.1, ENST00000626352.2
      Conserved Domains (3) summary
      cd01923
      Location:281 → 440
      cyclophilin_RING; cyclophilin_RING: cyclophilin-type peptidylprolyl cis- trans isomerases (cyclophilins) having a modified RING finger domain. This group includes the nuclear proteins, Human hCyP-60 and Caenorhabditis elegans MOG-6 which, compared to the archetypal ...
      cd16663
      Location:38 → 110
      RING-Ubox_PPIL2; U-box domain, a modified RING finger, found in peptidyl-prolyl cis-trans isomerase-like 2 (PPIL2) and similar proteins
      cl17238
      Location:100 → 159
      RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000022.11 Reference GRCh38.p14 Primary Assembly

      Range
      21666012..21700015
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011530049.3 → XP_011528351.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X5

      See identical proteins and their annotated locations for XP_011528351.1

      Conserved Domains (1) summary
      cd01923
      Location:103 → 262
      cyclophilin_RING; cyclophilin-type peptidylprolyl cis- trans isomerases (cyclophilins) having a modified RING finger domain. This group includes the nuclear proteins, Human hCyP-60 and Caenorhabditis elegans MOG-6 which, compared to the archetypal cyclophilin Human ...

    2. XM_011530046.4 → XP_011528348.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X4

      See identical proteins and their annotated locations for XP_011528348.1

      UniProtKB/Swiss-Prot
      Q13356, Q13357, Q8TAH2, Q9BWR8
      UniProtKB/TrEMBL
      A8K0I0
      Related
      ENSP00000506328.1, ENST00000679540.1
      Conserved Domains (4) summary
      cd01923
      Location:281 → 440
      cyclophilin_RING; cyclophilin-type peptidylprolyl cis- trans isomerases (cyclophilins) having a modified RING finger domain. This group includes the nuclear proteins, Human hCyP-60 and Caenorhabditis elegans MOG-6 which, compared to the archetypal cyclophilin Human ...
      cd00162
      Location:103 → 146
      RING_Ubox; U-box domain, a modified RING finger [structural motif]
      cd16663
      Location:38 → 110
      RING-Ubox_PPIL2; U-box domain, a modified RING finger, found in peptidyl-prolyl cis-trans isomerase-like 2 (PPIL2) and similar proteins
      cl17238
      Location:100 → 159
      RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

    3. XM_047441267.1 → XP_047297223.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X3

      UniProtKB/TrEMBL
      A0A7P0T8E8

    4. XM_011530041.4 → XP_011528343.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X1

      UniProtKB/TrEMBL
      A0A7P0TB19
      Related
      ENSP00000506368.1, ENST00000680094.1
      Conserved Domains (4) summary
      cd01923
      Location:281 → 440
      cyclophilin_RING; cyclophilin-type peptidylprolyl cis- trans isomerases (cyclophilins) having a modified RING finger domain. This group includes the nuclear proteins, Human hCyP-60 and Caenorhabditis elegans MOG-6 which, compared to the archetypal cyclophilin Human ...
      cd00162
      Location:103 → 146
      RING_Ubox; U-box domain, a modified RING finger [structural motif]
      cd16663
      Location:38 → 110
      RING-Ubox_PPIL2; U-box domain, a modified RING finger, found in peptidyl-prolyl cis-trans isomerase-like 2 (PPIL2) and similar proteins
      cl17238
      Location:100 → 159
      RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

    5. XM_011530043.4 → XP_011528345.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X2

      UniProtKB/TrEMBL
      A0A7P0T8E8
      Conserved Domains (4) summary
      cd01923
      Location:281 → 440
      cyclophilin_RING; cyclophilin-type peptidylprolyl cis- trans isomerases (cyclophilins) having a modified RING finger domain. This group includes the nuclear proteins, Human hCyP-60 and Caenorhabditis elegans MOG-6 which, compared to the archetypal cyclophilin Human ...
      cd00162
      Location:103 → 146
      RING_Ubox; U-box domain, a modified RING finger [structural motif]
      cd16663
      Location:38 → 110
      RING-Ubox_PPIL2; U-box domain, a modified RING finger, found in peptidyl-prolyl cis-trans isomerase-like 2 (PPIL2) and similar proteins
      cl17238
      Location:100 → 159
      RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

    6. XM_024452193.2 → XP_024307961.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X6

      UniProtKB/TrEMBL
      A0A7P0TBL3
      Related
      ENSP00000506723.1, ENST00000679580.1
      Conserved Domains (4) summary
      cd00162
      Location:103 → 146
      RING_Ubox; U-box domain, a modified RING finger [structural motif]
      cd16663
      Location:38 → 110
      RING-Ubox_PPIL2; U-box domain, a modified RING finger, found in peptidyl-prolyl cis-trans isomerase-like 2 (PPIL2) and similar proteins
      cl00197
      Location:281 → 401
      cyclophilin; cyclophilin-type peptidylprolyl cis- trans isomerases. This family contains eukaryotic, bacterial and archeal proteins which exhibit a peptidylprolyl cis- trans isomerases activity (PPIase, Rotamase) and in addition bind the immunosuppressive drug ...
      cl17238
      Location:100 → 159
      RING_Ubox; The superfamily of RING finger (Really Interesting New Gene) domain and U-box domain

    7. XM_047441268.1 → XP_047297224.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060946.1 Alternate T2T-CHM13v2.0

      Range
      22079481..22113495
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054325409.1 → XP_054181384.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X5

    2. XM_054325408.1 → XP_054181383.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X4

      UniProtKB/Swiss-Prot
      Q13356, Q13357, Q8TAH2, Q9BWR8
      UniProtKB/TrEMBL
      A8K0I0

    3. XM_054325407.1 → XP_054181382.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X3

      UniProtKB/TrEMBL
      A0A7P0T8E8

    4. XM_054325405.1 → XP_054181380.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X1

      UniProtKB/TrEMBL
      A0A7P0TB19

    5. XM_054325406.1 → XP_054181381.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X2

      UniProtKB/TrEMBL
      A0A7P0T8E8

    6. XM_054325411.1 → XP_054181386.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X6

      UniProtKB/TrEMBL
      A0A7P0TBL3

    7. XM_054325410.1 → XP_054181385.1  RING-type E3 ubiquitin-protein ligase PPIL2 isoform X5

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13356.1 GenPept UniProtKB/Swiss-Prot:Q13356

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