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

Summary

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

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_000022.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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 EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

STS-U37219 (e-PCR)
- UniSTS:80142

RH102737 (e-PCR)
- UniSTS:97071

SHGC-34311 (e-PCR)
- UniSTS:50737

YPEL1_9589 (e-PCR)
- UniSTS:468796

A006V27 (e-PCR)
- UniSTS:32591

D22S446 (e-PCR)
- UniSTS:32428

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

EC 2.3.2.27

NP_055152.1

EC 2.3.2.27

NP_680480.1

EC 2.3.2.27

NP_680481.1

EC 2.3.2.27

XP_011528343.1

EC 2.3.2.27

XP_011528345.1

EC 2.3.2.27

XP_011528348.1

EC 2.3.2.27

XP_011528351.1

EC 2.3.2.27

XP_024307961.1

EC 2.3.2.27

XP_047297223.1

EC 2.3.2.27

XP_047297224.1

EC 2.3.2.27

XP_054181380.1

EC 2.3.2.27

XP_054181381.1

EC 2.3.2.27

XP_054181382.1

EC 2.3.2.27

XP_054181383.1

EC 2.3.2.27

XP_054181384.1

EC 2.3.2.27

XP_054181385.1

EC 2.3.2.27

XP_054181386.1

EC 2.3.2.27

NCBI Reference Sequences (RefSeq)

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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)

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
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
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
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

NC_000022.11 Reference GRCh38.p14 Primary Assembly

Range

21666012..21700015

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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 ...
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
XM_047441267.1 → XP_047297223.1 RING-type E3 ubiquitin-protein ligase PPIL2 isoform X3
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
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
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
XM_047441268.1 → XP_047297224.1 RING-type E3 ubiquitin-protein ligase PPIL2 isoform X5

Alternate T2T-CHM13v2.0

Genomic

NC_060946.1 Alternate T2T-CHM13v2.0

Range

22079481..22113495

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_054325409.1 → XP_054181384.1 RING-type E3 ubiquitin-protein ligase PPIL2 isoform X5
XM_054325408.1 → XP_054181383.1 RING-type E3 ubiquitin-protein ligase PPIL2 isoform X4

UniProtKB/Swiss-Prot

Q13356, Q13357, Q8TAH2, Q9BWR8
XM_054325407.1 → XP_054181382.1 RING-type E3 ubiquitin-protein ligase PPIL2 isoform X3
XM_054325405.1 → XP_054181380.1 RING-type E3 ubiquitin-protein ligase PPIL2 isoform X1
XM_054325406.1 → XP_054181381.1 RING-type E3 ubiquitin-protein ligase PPIL2 isoform X2
XM_054325411.1 → XP_054181386.1 RING-type E3 ubiquitin-protein ligase PPIL2 isoform X6

UniProtKB/TrEMBL

A0A7P0TBL3
XM_054325410.1 → XP_054181385.1 RING-type E3 ubiquitin-protein ligase PPIL2 isoform X5