Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5479
Gene name	Peptidylprolyl isomerase B
Gene symbol	PPIB
Synonyms (NCBI Gene)	CYP-S1CYPBHEL-S-39OI9SCYLP
Chromosome	15
Chromosome location	15q22.31
Summary	The protein encoded by this gene is a cyclosporine-binding protein and is mainly located within the endoplasmic reticulum. It is associated with the secretory pathway and released in biological fluids. This protein can bind to cells derived from T- and B-

Show/Hide all (4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs137853864	A>C,G,T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs137853865	G>-	Not-provided, pathogenic	Coding sequence variant, frameshift variant
rs137853866	C>T	Not-provided, pathogenic	Missense variant, coding sequence variant
rs137853867	C>T	Pathogenic	Splice donor variant

Show/Hide all (69)

miRTarBase ID	miRNA	Experiments	Reference
MIRT001347	hsa-miR-1-3p	pSILAC	18668040
MIRT001347	hsa-miR-1-3p	Proteomics;Other	18668040
MIRT049173	hsa-miR-92a-3p	CLASH	23622248
MIRT049173	hsa-miR-92a-3p	CLASH	23622248
MIRT044215	hsa-miR-301a-3p	CLASH	23622248
MIRT513165	hsa-miR-4655-5p	PAR-CLIP	23446348
MIRT513164	hsa-miR-181d-3p	PAR-CLIP	23446348
MIRT513163	hsa-miR-3065-3p	PAR-CLIP	23446348
MIRT513162	hsa-miR-6784-5p	PAR-CLIP	23446348
MIRT513160	hsa-miR-3194-5p	PAR-CLIP	23446348
MIRT513161	hsa-miR-572	PAR-CLIP	23446348
MIRT513159	hsa-miR-1202	PAR-CLIP	23446348
MIRT513158	hsa-miR-3972	PAR-CLIP	23446348
MIRT001347	hsa-miR-1-3p	PAR-CLIP	26701625
MIRT001347	hsa-miR-1-3p	PAR-CLIP	26701625
MIRT513161	hsa-miR-572	PAR-CLIP	26701625
MIRT513161	hsa-miR-572	PAR-CLIP	26701625
MIRT513165	hsa-miR-4655-5p	PAR-CLIP	23446348
MIRT513164	hsa-miR-181d-3p	PAR-CLIP	23446348
MIRT513163	hsa-miR-3065-3p	PAR-CLIP	23446348
MIRT513162	hsa-miR-6784-5p	PAR-CLIP	23446348
MIRT513160	hsa-miR-3194-5p	PAR-CLIP	23446348
MIRT513161	hsa-miR-572	PAR-CLIP	23446348
MIRT513159	hsa-miR-1202	PAR-CLIP	23446348
MIRT513158	hsa-miR-3972	PAR-CLIP	23446348
MIRT1252826	hsa-miR-1	CLIP-seq
MIRT1252827	hsa-miR-1301	CLIP-seq
MIRT1252828	hsa-miR-148a	CLIP-seq
MIRT1252829	hsa-miR-148b	CLIP-seq
MIRT1252830	hsa-miR-152	CLIP-seq
MIRT1252831	hsa-miR-1825	CLIP-seq
MIRT1252832	hsa-miR-2964a-5p	CLIP-seq
MIRT1252833	hsa-miR-3184	CLIP-seq
MIRT1252834	hsa-miR-3190	CLIP-seq
MIRT1252835	hsa-miR-3673	CLIP-seq
MIRT1252836	hsa-miR-3918	CLIP-seq
MIRT1252837	hsa-miR-3944-5p	CLIP-seq
MIRT1252838	hsa-miR-4302	CLIP-seq
MIRT1252839	hsa-miR-4512	CLIP-seq
MIRT1252840	hsa-miR-4640-5p	CLIP-seq
MIRT1252841	hsa-miR-4660	CLIP-seq
MIRT1252842	hsa-miR-4697-3p	CLIP-seq
MIRT1252843	hsa-miR-4726-5p	CLIP-seq
MIRT1252844	hsa-miR-4730	CLIP-seq
MIRT1252845	hsa-miR-5047	CLIP-seq
MIRT1252846	hsa-miR-668	CLIP-seq
MIRT1252847	hsa-miR-888	CLIP-seq
MIRT2074462	hsa-miR-1233	CLIP-seq
MIRT2074463	hsa-miR-146b-3p	CLIP-seq
MIRT1252836	hsa-miR-3918	CLIP-seq
MIRT1252838	hsa-miR-4302	CLIP-seq
MIRT1252839	hsa-miR-4512	CLIP-seq
MIRT1252842	hsa-miR-4697-3p	CLIP-seq
MIRT1252844	hsa-miR-4730	CLIP-seq
MIRT1252846	hsa-miR-668	CLIP-seq
MIRT1252847	hsa-miR-888	CLIP-seq
MIRT1252826	hsa-miR-1	CLIP-seq
MIRT1252833	hsa-miR-3184	CLIP-seq
MIRT1252835	hsa-miR-3673	CLIP-seq
MIRT2598177	hsa-miR-1914	CLIP-seq
MIRT1252832	hsa-miR-2964a-5p	CLIP-seq
MIRT2598178	hsa-miR-339-5p	CLIP-seq
MIRT1252846	hsa-miR-668	CLIP-seq
MIRT1252847	hsa-miR-888	CLIP-seq
MIRT2598177	hsa-miR-1914	CLIP-seq
MIRT1252832	hsa-miR-2964a-5p	CLIP-seq
MIRT2598178	hsa-miR-339-5p	CLIP-seq
MIRT1252846	hsa-miR-668	CLIP-seq
MIRT1252847	hsa-miR-888	CLIP-seq

Show/Hide all (42)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22658674, 22681889
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	IBA
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	IDA	20676357
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	IEA
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	ISS
GO:0003755	Function	Peptidyl-prolyl cis-trans isomerase activity	NAS	2000394
GO:0005515	Function	Protein binding	IPI	15095401, 15989969, 20147391, 21280149, 21516116, 22665516, 25416956, 30021884, 32296183, 32814053
GO:0005515	Function	Protein binding	ISS
GO:0005518	Function	Collagen binding	ISS
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005654	Component	Nucleoplasm	IDA
GO:0005737	Component	Cytoplasm	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	20089953
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005783	Component	Endoplasmic reticulum	TAS	2000394
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	NAS	1530944
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005790	Component	Smooth endoplasmic reticulum	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0006457	Process	Protein folding	IBA
GO:0006457	Process	Protein folding	IDA	22665516
GO:0006457	Process	Protein folding	IMP	20089953
GO:0016018	Function	Cyclosporin A binding	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016853	Function	Isomerase activity	IEA
GO:0030593	Process	Neutrophil chemotaxis	IDA	11688976
GO:0032991	Component	Protein-containing complex	ISS
GO:0034663	Component	Endoplasmic reticulum chaperone complex	IEA
GO:0040018	Process	Positive regulation of multicellular organism growth	IMP	20089953
GO:0042470	Component	Melanosome	IEA
GO:0043231	Component	Intracellular membrane-bounded organelle	IBA
GO:0044794	Process	Host-mediated activation of viral process	IMP	15989969
GO:0044829	Process	Host-mediated activation of viral genome replication	IMP	15989969
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	15989969
GO:0050821	Process	Protein stabilization	IMP	20089953
GO:0051082	Function	Unfolded protein binding	TAS	2000394
GO:0060348	Process	Bone development	IMP	20089953
GO:0070062	Component	Extracellular exosome	HDA	19056867, 19199708, 20458337, 23533145
GO:0070063	Function	RNA polymerase binding	IPI	15989969
GO:1901873	Process	Regulation of post-translational protein modification	IMP	20089953

MIM	HGNC	e!Ensembl
123841	9255	ENSG00000166794

P23284

Protein name

Peptidyl-prolyl cis-trans isomerase B (PPIase B) (EC 5.2.1.8) (CYP-S1) (Cyclophilin B) (Rotamase B) (S-cyclophilin) (SCYLP)

Protein function

PPIase that catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides and may therefore assist protein folding.

PDB

1CYN , 3ICH , 3ICI , 8K0F , 8K0I , 8K0M , 8K17 , 8KC9

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00160	Pro_isomerase	47 → 204	Cyclophilin type peptidyl-prolyl cis-trans isomerase/CLD	Domain

Sequence

MLRLSERNMKVLLAAALIAGSVFFLLLPGPSAADEKKKGPKVTVKVYFDLRIGDEDVGRV
IFGLFGKTVPKTVDNFVALATGEKGFGYKNSKFHRVIKDFMIQGGDFTRGDGTGGKSIYG
ERFPDENFKLKHYGPGWVSMANAGKDTNGSQFFITTVKTAWLDGKHVVFGKVLEGMEVVR
KVESTKTDSRDKPLKDVIIADCGKIEVEKPFAIAKE

Sequence length

216

Interactions

View interactions

	Reactome
			Collagen biosynthesis and modifying enzymes

103

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Clear cell carcinoma of kidney	Likely pathogenic	rs748284900	RCV005910853
Osteogenesis imperfecta	Likely pathogenic; Pathogenic	rs1228817029, rs137853869, rs137853866	RCV002271935 RCV002307366 RCV003114203
Osteogenesis imperfecta type 9	Likely pathogenic; Pathogenic	rs1211592084, rs137853869, rs121434559, rs137853865, rs137853866, rs398122834	RCV001849895 RCV000018433 RCV000018434 RCV000202411 RCV000202406 RCV000034321

Show/Hide Unknown Diseases (18)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Adrenocortical carcinoma, hereditary	Benign	rs4904	RCV005888678
Cervical cancer	Uncertain significance	rs962538470	RCV005932362
Cholangiocarcinoma	Benign	rs4904	RCV005888687
Colon adenocarcinoma	Benign	rs4904	RCV005888675
Colorectal cancer	Benign	rs4904	RCV005888681
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2506122456	RCV004557900
Lung cancer	Benign; Likely benign	rs150590633, rs4904	RCV005896407 RCV005888688
Lymphoma	Benign	rs4904	RCV005888683
Malignant tumor of esophagus	Benign; Likely benign	rs150590633, rs4904	RCV005896406 RCV005888676
Melanoma	Benign	rs4904	RCV005888686
Nonpapillary renal cell carcinoma	Benign	rs4904	RCV005888677
Osteogenesis Imperfecta, Recessive	Benign; Likely benign; Uncertain significance	rs202080377, rs5813282, rs397748288, rs112481305, rs113066141	RCV000308315 RCV000347354 RCV000302881 RCV000395841 RCV000297521 RCV000354746
PPIB-related disorder	Uncertain significance; Likely benign; Benign	rs367853445, rs757856817, rs1214968303, rs868257669, rs1555496444, rs867290280, rs200307684	RCV003416637 RCV003903662 RCV003946302 RCV003943895 RCV003924443 RCV003971365 RCV003928298
Sarcoma	Benign	rs4904	RCV005888682
Thymoma	Benign	rs4904	RCV005888684
Thyroid cancer, nonmedullary, 1	Benign	rs4904	RCV005888685
Uterine corpus endometrial carcinoma	Benign; Likely benign	rs150590633, rs4904	RCV005896408 RCV005888689
Uveal melanoma	Benign	rs4904	RCV005888680

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	35379924
Asthma	Stimulate	21999750
Breast Neoplasms	Stimulate	19056847
Breast Neoplasms	Associate	20237142
Carcinoma Hepatocellular	Associate	33111654
Cartilage Diseases	Associate	19781681
Collagen Diseases	Associate	39245686
Ehlers Danlos Syndrome Type VII Autosomal Dominant	Associate	21282188
Endometrial Neoplasms	Stimulate	34187415
HIV Infections	Associate	26774171
Inflammation	Associate	22798670
Nasopharyngeal Carcinoma	Associate	31040200
Neoplasm Metastasis	Associate	34187415
Neoplasms	Associate	22241958, 34187415, 37729607
Osteogenesis Imperfecta	Associate	19781681, 20089953, 20188343, 21282188, 21829228, 22718341, 26634552, 28802583, 30993352, 39245686
Osteogenesis Imperfecta Type IX	Associate	22718341, 28802583
Periodontitis	Associate	29116140
Prostatic Neoplasms Castration Resistant	Associate	37729607
Squamous Cell Carcinoma of Head and Neck	Associate	22241958

PPIB (peptidylprolyl isomerase B)