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PPIB Gene

protein-coding GIFtS: 75
GCID: GC15M064448

Peptidylprolyl Isomerase B (Cyclophilin B)

See PPIB-related diseases
at

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(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Aliases
Peptidylprolyl Isomerase B (Cyclophilin B)¹ ²		EC 5.2.1.8³ ⁸
CYPB² ³ ⁵		OI9² ⁵
Rotamase B² ³		HEL-S-39²
CYP-S1² ³		Cyclophilin-Like Protein²
S-cyclophilin² ³		Epididymis Secretory Protein Li 39²
SCYLP² ³		Peptidyl-Prolyl Cis-Trans Isomerase B²
PPIase B² ³		Cyclophilin B³

External Ids:	HGNC: 9255¹	Entrez Gene: 5479²	Ensembl: ENSG00000166794⁷	OMIM: 123841⁵	UniProtKB: P23284³

Export aliases for PPIB gene to outside databases

Previous GC identifers: GC15M060234 GC15M057607 GC15M062026 GC15M062163 GC15M062235 GC15M041272

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PPIB Gene:

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-lymphocytes, and may regulate cyclosporine A-mediated immunosuppression. Variants

have been identified in this protein that give rise to recessive forms of osteogenesis imperfecta. (provided by

RefSeq, Oct 2009)

GeneCards Summary for PPIB Gene:

PPIB (peptidylprolyl isomerase B (cyclophilin B)) is a protein-coding gene. Diseases associated with PPIB include ppib-related osteogenesis imperfecta, and osteogenesis imperfecta type 9. GO annotations related to this gene include unfolded protein binding and peptide binding. An important paralog of this gene is PPIH.

UniProtKB/Swiss-Prot: PPIB_HUMAN, P23284

Function: PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic

peptide bonds in oligopeptides

Gene Wiki entry for PPIB Gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:

NC_000015.9 NC_018926.2 NT_010194.18

Regulatory elements:

Regulatory transcription factor binding sites in the PPIB gene promoter:
Bach1 AP-1 Tal-1 E47 AREB6 FAC1 Pax-3 Hand1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PPIB promoter sequence

Search Chromatin IP Primers for PPIB

Epigenetics:

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PPIB

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q21-q22 Ensembl cytogenetic band: 15q22.31 HGNC cytogenetic band: 15q21-q22

PPIB Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PPIB gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15M064448: view genomic region (about GC identifiers)

Start:	64,448,011 bp from pter	End:	64,455,404 bp from pter
Size:	7,394 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PPIB_HUMAN, P23284 (See protein sequence)

Recommended Name: Peptidyl-prolyl cis-trans isomerase B precursor

Size: 216 amino acids; 23743 Da

Subunit: Interacts with DYM

Caution: It is uncertain whether Met-1 or Met-9 is the initiator

Sequence caution: Sequence=AAA52150.1; Type=Erroneous initiation;

3 PDB 3D structures from and Proteopedia for PPIB:

1CYN (3D)

3ICH (3D)

3ICI (3D)

Secondary accessions: A8K534 Q6IBH5 Q9BVK5

Explore the universe of human proteins at neXtProt for PPIB: NX_P23284

Explore proteomics data for PPIB at MOPED

Post-translational modifications:

Ubiquitination² at Lys67, Lys98, Lys131, Lys158, Lys165, Lys209

Glycosylation² at Asn148

Modification sites at PhosphoSitePlus

Selected DME Specific Peptides for PPIB (P23284) (see all 10)

GGKSIYG

FMIQGGD

GKTVPKT

TNGSQFF

See PPIB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_000933.1

ENSEMBL proteins:

ENSP00000300026

Reactome Protein details: P23284

PPIB Human Recombinant Protein Products:

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	antibodies-online proteins for PPIB (29 products)
	antibodies-online peptides for PPIB

PPIB Antibody Products:

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PPIB Assay Products:

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	antibodies-online kits for PPIB (37 products)

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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3 InterPro protein domains:

IPR002130 Cyclophilin-type_PPIase_dom

IPR024936 Cyclophilin-type_PPIase

IPR020892 Cyclophilin-type_PPIase_CS

Graphical View of Domain Structure for InterPro Entry P23284

ProtoNet protein and cluster: P23284

1 Blocks protein domain: IPB002130 Peptidyl-prolyl cis-trans isomerase

UniProtKB/Swiss-Prot: PPIB_HUMAN, P23284

Similarity: Belongs to the cyclophilin-type PPIase family. PPIase B subfamily

Similarity: Contains 1 PPIase cyclophilin-type domain

Find genes that share domains with PPIB About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

UniProtKB/Swiss-Prot Summary: PPIB_HUMAN, P23284

Function: PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic

peptide bonds in oligopeptides

Catalytic activity: Peptidylproline (omega=180) = peptidylproline (omega=0)

Enzyme regulation: Cyclosporin A (CsA) inhibits CYPB

Genatlas biochemistry entry for PPIB:

peptidyl-propyl isomerase B

Enzyme Number (IUBMB): EC 5.2.1.8¹ ²

Gene Ontology (GO): Selected molecular function terms (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003755	peptidyl-prolyl cis-trans isomerase activity	NAS	2000394
GO:0005515	protein binding	IPI	15095401
GO:0005518	contributes to collagen binding	ISS	--
GO:0032403	protein complex binding	ISS	--
GO:0042277	peptide binding	IEA	--

Find genes that share ontologies with PPIB About GenesLikeMe

Phenotypes:
3 GenomeRNAi human phenotypes for PPIB:

Increased G1 DNA content

Increased HPV18 LCR reporter a

Wnt reporter downregulated

5 MGI mutant phenotypes (inferred from 3 alleles) (MGI details for Ppib):

growth/size/body

integument

mortality/aging

no phenotypic analysis

skeleton

Find genes that share phenotypes with PPIB About GenesLikeMe

Animal Models:
MGI mouse knock-out Ppib^tm1.1Rjb for PPIB

genOway: Develop your customized and physiologically relevant rodent model for PPIB

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		SwitchGear 3'UTR luciferase reporter plasmid: PPIB 3' UTR sequence

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		Sino Biological Human cDNA Clone for PPIB
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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPIB

Flow Cytometry
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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot

PPIB_HUMAN, P23284: Endoplasmic reticulum lumen. Melanosome. Note=Identified by mass spectrometry in melanosome

fractions from stage I to stage IV

Subcellular locations from COMPARTMENTS:

Compartment	Confidence
endoplasmic reticulum	5
extracellular	3
cytosol	1
nucleus	1

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Gene Ontology (GO): 5 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005783	endoplasmic reticulum	IDA	--
GO:0005788	endoplasmic reticulum lumen	TAS	--
GO:0032991	macromolecular complex	ISS	--
GO:0042470	melanosome	IEA	--
GO:0070062	extracellular vesicular exosome	IDA	19056867

Find genes that share ontologies with PPIB About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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SuperPaths for PPIB About

See pathways by source

Powered
by

SuperPath

Contained pathways About

Collagen biosynthesis and modifying enzymes

Collagen biosynthesis and modifying enzymes

0.75

Collagen formation

0.75

RANK Signaling in Osteoclasts

Apoptosis and survival APRIL and BAFF signaling

0.39

Prolactin Signaling Pathway

Prolactin Signaling Pathway

0.39

Degradation of the extracellular matrix

Extracellular matrix organization

0.34

Syndecan-1-mediated signaling events

Syndecan-1-mediated signaling events

Find genes that share SuperPaths with PPIB About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

1 GeneGo (Thomson Reuters) Pathway for PPIB

Apoptosis and survival APRIL and BAFF signaling

2 BioSystems Pathways for PPIB

	Prolactin Signaling Pathway
	Syndecan-1-mediated signaling events

1 Reactome Pathway for PPIB

Collagen biosynthesis and modifying enzymes

Custom Pathway & Disease-focused RT² Profiler PCR Arrays for PPIB
Interactions:

GeneGlobe Interaction Network for PPIB

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

Selected Interacting proteins for PPIB (P23284^{1, 2, 3} ENSP00000300026⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 151)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TRAF1	Q13077²^,³	MINT-49520 I2D: score=2
ENSG00000206353	Q15477³	I2D: score=1
ENSG00000223493	Q15477³	I2D: score=1
ENSG00000225737	Q15477³	I2D: score=1
ENSG00000228896	Q15477³	I2D: score=1

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Gene Ontology (GO): Selected biological process terms (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000413	protein peptidyl-prolyl isomerization	ISS	--
GO:0006457	protein folding	--	--
GO:0030198	extracellular matrix organization	TAS	--
GO:0040018	positive regulation of multicellular organism growth	IMP	--
GO:0050821	protein stabilization	IMP	--

Find genes that share ontologies with PPIB About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse compounds at ApexBio

Browse Tocris compounds for PPIB

1 HMDB Compound for PPIB About this table

Compound	Synonyms	CAS #	PubMed Ids
L-Proline	(-)-(S)-Proline (see all 16)	147-85-3	--

2 DrugBank Compounds for PPIB About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
L-Proline	(-)-2-Pyrrolidinecarboxylic acid (see all 6)	147-85-3	target	binder	17139284 11752352 17016423
1,4-Dithiothreitol	--	--	target	--	10592235

5 Novoseek inferred chemical compound relationships for PPIB gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
cyclosporin a	69.9	42	9378502 (4), 10386979 (4), 8713086 (3), 11955071 (2) (see all 19)
heparan sulfate	56.2	21	19940140 (4), 17588944 (4), 15109301 (4)
proline	38.6	5	19781681 (2), 17630507 (1)
anti-fungal	24.4	3	15245883 (1), 11848297 (1), 11732686 (1)
heparin	22.8	6	15109301 (4), 19940140 (1)

Find genes that share compounds with PPIB About GenesLikeMe

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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REFSEQ mRNAs for PPIB gene:

NM_000942.4

Unigene Cluster for PPIB:

Peptidylprolyl isomerase B (cyclophilin B)

Hs.434937 [show with all ESTs]

Unigene Representative Sequence: BQ049986

3 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000300026(uc002and.3) ENST00000558492 ENST00000561048(uc010bgx.1)

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		Pre-validated RT² qPCR Primer Assay in human, mouse, rat PPIB
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Flow Cytometry
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Additional mRNA sequence:

AK291149.1 AK311074.1 BC001125.2 BC008848.2 BC020800.1 BC032138.2 CR456829.1 M60457.1

M60857.1 M63573.1

Selected DOTS entries (see all 27):

DT.95344633 DT.119195 DT.100845917 DT.95352178 DT.100845915 DT.100845910 DT.95352206 DT.97784070

DT.100845912 DT.100845913 DT.100845919 DT.121023162 DT.121023414 DT.92068163 DT.92457228 DT.95237355

DT.95352171 DT.100845914 DT.121023234 DT.121023413 DT.121023420 DT.92457220 DT.95147920 DT.95352090

Selected AceView cDNA sequences (see all 953):

AW069876 BM461482 BC001125 BM826368 BU849690 BU077971 CA865787 BI768795

BG291432 BQ020844 CN484237 BM831044 BM825346 H28029 BQ683403 CF527923

BM825696 BM772843 BM830826 BM272656 BE907521 BM832180 CB133821 BM831000

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for PPIB About this scheme

ExUns:	1a	·	1b	·	1c	^	2	^	3a	·	3b	^	4	^	5a	·	5b
SP1:											-
SP2:							-				-
SP3:

ECgene alternative splicing isoforms for PPIB

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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PPIB expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GACTCACTTT

About this image

PPIB expression in embryonic tissues and stem cells About this table

Data from LifeMap, the Embryonic Development and Stem Cells Database
selected tissues (see all 20) fully expand


Bone (Muscoskeletal System) fully expand to see all 4 entries
Endochondral Facial Bones
HyStem+TGFbeta3+GDF5-induced 7PEND24 cells

Brain (Nervous System) fully expand to see all 3 entries
Cerebral Cortex

Ovary (Reproductive System) fully expand to see all 2 entries
Ovarian Mesenchymal Stroma Cells Ovary Interstitium
Oviduct

Testis (Reproductive System)
Leydig Cells Testis Interstitium

Pancreas (Endocrine System)
Islets of Langerhans

PPIB Protein expression data from MOPED¹, PaxDb² and MaxQB³:

About this image

PPIB Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.434937

Custom PCR Arrays for PPIB

Primer Products:		OriGene qPCR primer pairs and template standards for PPIB OriGene qSTAR qPCR primer pairs in human, mouse for PPIB
		Pre-validated RT² qPCR Primer Assay in human, mouse, rat PPIB
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		QuantiFast Probe-based Assays in human, mouse, rat PPIB

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PPIB

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of eukaryotes.

Orthologs for PPIB gene from Selected species (see all 28) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ppib^{1 , 5}	peptidylprolyl isomerase B^{1, 5}	90.12(n)¹ 93.98(a)¹		9 (35.69 cM)⁵ 19035¹ NM_011149.2¹ NP_035279.2¹ 66060169⁵
chicken (Gallus gallus)	Aves	PPIB¹	peptidylprolyl isomerase B (cyclophilin B)	80.84(n) 86.47(a)		396447 NM_205461.1 NP_990792.1
lizard (Anolis carolinensis)	Reptilia	PPIB⁶	peptidylprolyl isomerase B (cyclophilin B)	83(a)	1 ↔ 1	GL343490.1(417575-422070)
African clawed frog (Xenopus laevis)	Amphibia	ppib-prov²	peptidylprolyl isomerase B	76.63(n)		BC054168.1
zebrafish (Danio rerio)	Actinopterygii	wufa97f08²	Danio rerio cDNA clone MGC73214 IMAGE4790964, complete more	79.36(n)		BC059560.1
fruit fly (Drosophila melanogaster)	Insecta	CG2852^{1 , 3}	peptidyl-prolyl cis-trans isomerase³ CG2852¹	73(a) (best of 2)³ 68.17(n)¹ 67.5(a)¹		58F3³ 37591¹ NM_137851.3¹ NP_611695.1¹
worm (Caenorhabditis elegans)	Secernentea	cyp-5³ cyn-5¹	cyclophillin³ cyn-5¹	71(a) (best of 4)³ 63.35(n)¹ 67.66(a)¹		I(15048595-15049564)³ 173374¹ NM_061223.5¹ NP_493624.1¹
baker's yeast (Saccharomyces cerevisiae)	Saccharomycetes	CPR5(YDR304C)⁴ CPR5¹	Peptidyl-prolyl cis-trans isomerase (cyclophilin) of more⁴ CPR5¹	55.56(n)¹ 56.08(a)¹		4(1072557-1071880)⁴ 851898^{1, 4} NP_010590.3¹ NP_010590.1⁴
thale cress (Arabidopsis thaliana)	eudicotyledons	CYP20-2¹	CYP20-2	62.13(n) 65.09(a)		831151 NM_001203370.1 NP_001190299.1
rice (Oryza sativa)	Liliopsida	AK104772.1²	--	75.26(n)		AK104772.1

ENSEMBL Gene Tree for PPIB (if available)
TreeFam Gene Tree for PPIB (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for PPIB gene

PPIH² PPIC² CWC27² PPWD1² PPIL4² PPIL2² PPIL3² PPIL1²

Selected SIMAP similar genes for PPIB using alignment to 1 protein entry: PPIB_HUMAN(see all similar genes):

PPIC PPIA PPIE PPIH LOC402252 RANBP2

PPIF PPIL1 PPID PPIAL4A PPIAL4B PPIAL4C

PPIAL4D PPIAL4G PPIG NKTR PPWD1 PPIL3

Find genes that share paralogs with PPIB About GenesLikeMe

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
VAR_063436⁴		Osteogenesis imperfecta 9 (OI9)⁴	--	see VAR_063436	2	M R	mis⁴		0	--	--	--	--
rs121434559^1,2	C	pathogenic¹	44510211(-)	`GCTCCC/TAGTTC`	2	Q *	stg¹		0	--	--	--	--
rs137853864^1,2	C	pathogenic¹	44516370(-)	`CAACAG/TGAAGG`	2	R M	mis¹		0	--	--	--	--
rs28720193^1,2	C	untested¹	44510170(-)	`GATGGC/GAAGCA`	2	G	syn¹		5		NS	188
rs2307247^1,2	C,F,H	untested¹	44513532(-)	`TTCACC/TAGGGG`	2	T	syn¹ ese³		12		NA NS EU	6725
rs11558595^1,2,,4	C,F,H	untested¹	44515521(-)	`GCCGGG/TTGATC`	2	V L	mis¹ ese³		9		NS EA NA	762
rs4904^1,2	C,F,H	untested¹	44516333(-)	`GGGTCC/AGTCTT`	2	/S	syn¹ ese³		18		MN EA NS WA NA EU	7035
rs181848744^1,2		--	44508805(+)	`GTCAGC/GTGGGT`	1	--	ds500¹		0	--	--	--	--
rs3896787^1,2	H	--	44508952(+)	`ATTTAG/AAGGTA`	1	--	ds500¹		5		MN NS EA	562
rs186457893^1,2		--	44508983(+)	`ACATCA/CCTTAA`	1	--	ds500¹		0	--	--	--	--
rs3858911^1,2	C,H	--	44508993(+)	`ACATAG/AACTGG`	1	--	ds500¹		5		MN NS EA	602
rs62024248^1,2	C	--	44509002(+)	`GGAGGG/TTGGTG`	1	--	ds500¹		3		WA NA	122
rs140759049^1,2		--	44509090(+)	`CTGGGC/TAGCTC`	1	--	ds500¹		0	--	--	--	--
rs79170101^1,2	C,F	--	44509147(+)	`ATTGCC/TACAGG`	1	--	ds500¹		1		WA	118
rs202080377^1,2		--	44509227(+)	`ATATA-/TTTAAA`	1	--	ut3¹		0	--	--	--	--
rs113626158^1,2	C	--	44509242(+)	`AAAAAT/ACCCAC`	1	--	ut3¹		1		CSA	1
rs1043001^1,2	A,H	--	44509340(+)	`CACCAG/AATGCC`	1	--	ut3¹ ese³		4		NS EA	416
rs2230223^1,2	C,H	--	44509367(-)	`GCTCTG/CAGCTG`	1	--	ut3¹ ese³		6		MN NS EA EU	1051
rs9091^1,2	A	--	44509369(-)	`GGGCTC/TTGAGC`	1	--	ut3¹ ese³		3		MN NA	188
rs201075610^1,2	C	--	44509380(+)	`TGTGGC/TGGACT`	1	--	ut3¹		1		EU	1165
rs2307248^1,2	C,F,H	--	44509411(-)	`TTCTTT/AGAGTG`	1	--	ut3¹		9		NA NS EA WA	1292
rs201974607^1,2	C	--	44509418(+)	`AGAAAG/TATGTC`	1	--	ut3¹		1		EU	1309
rs200904948^1,2		--	44509455(+)	`AAAGGA/GCTTCT`	2	P S	mis¹		0	--	--	--	--
rs200864554^1,2	C	--	44509514(+)	`TATCCC/TGGCTG`	2	Q R	mis¹		0	--	--	--	--
rs112393084^1,2	C	--	44509556(+)	`CCTCCA/TGGAAA`	1	--	spa¹		1		CSA	1
rs2253557^1,2	C,F,A,H	--	44509575(+)	`GGAAGT/CAGGAG`	1	--	int¹		28		EA NA NS WA CSA EU	4735
rs191357754^1,2		--	44509627(+)	`CCAGCA/GTATGG`	1	--	int¹		0	--	--	--	--
rs41434449^1,2	C,F,H	--	44509670(+)	`AGCACA/TCAAAA`	1	--	int¹		20		NS EA NA	2034
rs150119910^1,2		--	44509734(+)	`TTTGAC/TGAGGG`	1	--	int¹		0	--	--	--	--
rs182294857^1,2		--	44509735(+)	`TTGACA/GAGGGG`	1	--	int¹		0	--	--	--	--
rs80308901^1,2	C,F	--	44509737(+)	`GACGAG/TGGGGT`	1	--	int¹		1		NA	120
rs3888854^1,2	C,H	--	44509802(-)	`ACCCTC/TTTCCT`	1	--	int¹ trp³		6		NS EA NA	598
rs138858242^1,2		--	44509827(+)	`GCTTCG/TCAGGG`	1	--	int¹		0	--	--	--	--
rs143219457^1,2	C	--	44509900(+)	`GAGGGA/GAGGGA`	1	--	int¹		0	--	--	--	--
rs147098192^1,2	C	--	44509963(+)	`ATTTAG/TAACCT`	1	--	int¹		0	--	--	--	--
rs138537382^1,2	C	--	44510104(+)	`ATTGCA/CCAGTA`	1	--	int¹		0	--	--	--	--
rs199606428^1,2		--	44510153(+)	`CTTTGC/TCAAAC`	2	D G	mis¹		0	--	--	--	--
rs201926681^1,2		--	44510169(+)	`ATGCTC/TGCCAT`	2	K E	mis¹		0	--	--	--	--
rs200990246^1,2		--	44510174(+)	`TGCCAC/TCTAGC`	2	D G	mis¹		0	--	--	--	--
rs140817860^1,2	C	--	44510196(+)	`GACTGT/CCGTGA`	2	/T /A	mis¹		1		NA	4552
rs11558597^1,2	C	--	44510290(-)	`TTCCCC/TGATGA`	2	P	syn¹ ese³		0	--	--	--	--
rs112753884^1,2	C	--	44510321(+)	`TTCCTC/GGGAAA`	1	--	int¹		0	--	--	--	--
rs28720192^1,2	C,F,H	--	44510345(-)	`GCGCCC/TCTGAC`	1	--	int¹		11		NS NA CSA WA	813
rs2241995^1,2	C,F,H	--	44510379(+)	`CATTCG/AGGGCC`	1	--	int¹		10		EA NS	2098
rs73462555^1,2	C,F	--	44510690(+)	`GGGTCG/AGAACT`	1	--	int¹		2		WA CSA	4
rs8032139^1,2	C,F,H	--	44510725(+)	`GCTGAC/TCAGCC`	1	--	int¹		16		NS EA NA WA	1398
rs12324206^1,2	C	--	44510728(+)	`GACCAC/GCCTGT`	1	--	int¹		0	--	--	--	--
rs28720191^1,2	C,F	--	44510896(-)	`GACGCG/CTCACA`	1	--	int¹		5		NS	188
rs147241860^1,2	C	--	44510919(+)	`GCTTGA/GGGATA`	1	--	int¹		0	--	--	--	--
rs3784381^1,2	C,F,A,H	--	44511049(+)	`TGCATG/TAGGCC`	1	--	int¹		34		EA NA NS WA CSA	4828
rs148722035^1,2		--	44511091(+)	`TCATTG/TTGTTT`	1	--	int¹		0	--	--	--	--
rs116378352^1,2	C,F	--	44511168(+)	`ATCCTG/ATGGTT`	1	--	int¹		1		WA	118
rs7177371^1,2	C,F,H	--	44511248(+)	`CAGCAG/AGTAGG`	1	--	int¹		22		NS EA NA WA	2520
rs190873800^1,2		--	44511302(+)	`AGGGTA/GCTTCT`	1	--	int¹		0	--	--	--	--
rs141454864^1,2		--	44511334(+)	`CCCACA/GCTGGG`	1	--	int¹		0	--	--	--	--
rs150852091^1,2		--	44511569(+)	`AGTTAG/TTCTTT`	1	--	int¹		0	--	--	--	--
rs183450369^1,2		--	44511610(+)	`TTGTCC/TCTACC`	1	--	int¹		0	--	--	--	--
rs187423775^1,2		--	44511617(+)	`TACCCA/CCTCCC`	1	--	int¹		0	--	--	--	--
rs193076306^1,2		--	44511629(+)	`ATGTAC/TTTACT`	1	--	int¹		0	--	--	--	--
rs201699492^1,2	C	--	44511647(+)	`TCCATC/TCCCAC`	1	--	int¹		0	--	--	--	--
rs73462557^1,2	C	--	44511715(+)	`TCCAAG/ACATCT`	1	--	int¹		1		WA	2
rs185324064^1,2		--	44511739(+)	`ATCCAC/TTCTAT`	1	--	int¹		0	--	--	--	--
rs28720190^1,2	C,F,H	--	44511807(-)	`CTGCTG/TGGGCT`	1	--	int¹		8		NS NA	516
rs149505645^1,2	C	--	44511847(+)	`GGTGG-/TCTGCT CTCGAATCTCTGC`	1	--	int¹		0	--	--	--	--
rs28720188^1,2	C,F	--	44511963(-)	`GGCAGA/GTCCAG`	1	--	int¹		6		NS WA	308
rs139548376^1,2		--	44512175(+)	`CTGCCC/TGTTCA`	1	--	int¹		0	--	--	--	--
rs28617359^1,2	C	--	44512241(+)	`CCCCCA/GTTCCC`	1	--	int¹		0	--	--	--	--
rs143367223^1,2		--	44512389(+)	`CAGAAA/CAGGAA`	1	--	int¹		0	--	--	--	--
rs28720187^1,2	C,F,H	--	44512469(-)	`CAGACG/ACAGTT`	1	--	int¹		20		NS EA NA	2176
rs114478852^1,2	F	--	44512591(+)	`ATGGGT/CCTTCA`	1	--	int¹		1		WA	118
rs192711932^1,2		--	44512652(+)	`CTGTGC/TTCTAA`	1	--	int¹		0	--	--	--	--
rs183476207^1,2		--	44512757(+)	`TCGGCA/CCTCAC`	1	--	int¹		0	--	--	--	--
rs115134044^1,2	C	--	44512781(+)	`GTGAAA/TGACTG`	1	--	int¹		0	--	--	--	--
rs139392480^1,2		--	44512943(+)	`TAACTA/GGGATT`	1	--	int¹		0	--	--	--	--
rs188205095^1,2		--	44512950(+)	`GATTAC/TAGGCG`	1	--	int¹		0	--	--	--	--
rs28720186^1,2	C,F	--	44512956(-)	`GGCACG/ACGCCT`	1	--	int¹		9		NS NA WA CSA	182
rs144878175^1,2		--	44513029(+)	`TGGTCG/TTGAAC`	1	--	int¹		0	--	--	--	--
rs181786003^1,2		--	44513102(+)	`CGCCTA/GGCCCT`	1	--	int¹		0	--	--	--	--
rs184615059^1,2		--	44513109(+)	`CCCTCA/TCACTC`	1	--	int¹		0	--	--	--	--
rs28720185^1,2	C,F	--	44513171(-)	`GGGTAC/TGCGAT`	1	--	int¹		7		NS NA	296
rs28720184^1,2	C,F,H	--	44513275(-)	`TGACCG/ATCCTG`	1	--	int¹		10		NS NA	680
rs28720183^1,2	C,F,H	--	44513370(-)	`ACCAGC/TGGCAC`	1	--	int¹		12		NS NA WA	1098
rs190531165^1,2		--	44513427(+)	`AGAAAA/GAGGCC`	1	--	int¹		0	--	--	--	--
rs112988616^1,2	C,F	--	44513581(+)	`GGAATT/CTGCTG`	2	/K /R	mis¹		1		NA	4552
rs28720182^1,2	C,F	--	44513772(-)	`GTCCTG/ATGGCG`	1	--	int¹		5		NS	188
rs28720181^1,2	C,F	--	44513813(-)	`ATGGAG/AGCAGA`	1	--	int¹		7		NS NA	308
rs186981162^1,2		--	44513848(+)	`CTACAC/TCACAT`	1	--	int¹		0	--	--	--	--
rs151166295^1,2		--	44513940(+)	`AAAGTC/TAATAT`	1	--	int¹		0	--	--	--	--
rs141275426^1,2	C	--	44514008(+)	`GTCTCA/CCCAGG`	1	--	int¹		0	--	--	--	--
rs147082159^1,2		--	44514084(+)	`GAGTTC/TCTCTC`	1	--	int¹		0	--	--	--	--
rs191249368^1,2		--	44514158(+)	`TCAAGC/TGATTC`	1	--	int¹		0	--	--	--	--
rs113977805^1,2	C,F	--	44514388(+)	`TTTTGA/CGATGG`	1	--	int¹		2		NA	122
rs138501770^1,2		--	44514420(+)	`GCTAGA/GGTGCA`	1	--	int¹		0	--	--	--	--
rs144061543^1,2		--	44514489(+)	`CTCAGC/TCTCCC`	1	--	int¹		0	--	--	--	--
rs181308945^1,2		--	44514531(+)	`CACCTC/GGCTAA`	1	--	int¹		0	--	--	--	--
rs150277449^1,2		--	44514625(+)	`CTCAGC/GCTCCC`	1	--	int¹		0	--	--	--	--
rs185176469^1,2	C	--	44514662(+)	`TACTGC/TGCCCG`	1	--	int¹		0	--	--	--	--
rs116602283^1,2	C,F	--	44514666(+)	`GCGCCC/TGGCCT`	1	--	int¹		2		WA EA	238
rs189939991^1,2		--	44514689(+)	`TAATTA/TATTTT`	1	--	int¹		0	--	--	--	--
rs182416935^1,2		--	44514708(+)	`GACAGG/TGTCTC`	1	--	int¹		0	--	--	--	--
rs138678524^1,2		--	44514732(+)	`GGCTGC/GAGTGC`	1	--	int¹		0	--	--	--	--
rs149353137^1,2		--	44514769(+)	`CCTCCA/GTTTCA`	1	--	int¹		0	--	--	--	--
rs189011562^1,2		--	44514844(+)	`AAAAAA/TTTTTT`	1	--	int¹		0	--	--	--	--
rs200356865^1,2		--	44514844(+)	`AAAAA-/TTTTTT`	1	--	int¹		0	--	--	--	--
rs192121876^1,2		--	44514857(+)	`TGGCCA/GGGCAT`	1	--	int¹		0	--	--	--	--
rs113377532^1,2	C,F	--	44514994(+)	`CCAAGG/CGTGGT`	1	--	int¹		1		NA	2
rs139619111^1,2		--	44515002(+)	`GGTGGC/TGCATG`	1	--	int¹		0	--	--	--	--
rs142887140^1,2		--	44515112(+)	`CCAGGA/CGACAA`	1	--	int¹		0	--	--	--	--
rs76209527^1,2	C,F	--	44515134(+)	`CGTCTA/C/GAAAAA`	1	--	int¹		2		WA NA	4
rs117511166^1,2	C,F	--	44515274(+)	`TGCCTG/AGTCAG`	1	--	int¹		1		EA	120
rs139327663^1,2		--	44515287(+)	`CCCCAC/TTACTC`	1	--	int¹		0	--	--	--	--
rs144124801^1,2		--	44515320(+)	`TCCCAA/GGGCAA`	1	--	int¹		0	--	--	--	--
rs150590633^1,2	C	--	44515431(+)	`ACTACA/CCCTGC`	1	--	int¹		0	--	--	--	--
rs202059751^1,2	C	--	44515438(+)	`CTGCTC/TCAGCC`	1	--	int¹		0	--	--	--	--
rs200786931^1,2	C	--	44515458(+)	`TCCTGC/TAGCTA`	2	T A	mis¹		0	--	--	--	--
rs202087362^1,2	C	--	44515475(+)	`CAAAAT/CTATCC`	2	/N /S	mis¹		1		EU	1323
rs28720180^1,2	C	--	44515614(-)	`CTCCCC/TTAGCA`	1	--	int¹ trp³		6		NS NA	192
rs28720179^1,2	C,F	--	44515720(-)	`ATTCTC/TATAGG`	1	--	int¹		7		NS WA	310
rs112549894^1,2	C,F	--	44515808(+)	`GCTCTG/AAACAG`	1	--	int¹		1		CSA	2
rs28720178^1,2	C,F	--	44515854(-)	`CCTTAT/AGGGTT`	1	--	int¹		9		NS NA	316
rs143999469^1,2	C	--	44515959(+)	`CGGAA-/TCCGGC`	1	--	int¹		0	--	--	--	--
rs183473433^1,2	C	--	44516213(+)	`AGGCCG/TCCCGG`	1	--	int¹		0	--	--	--	--
rs137883097^1,2	F	--	44516272(+)	`GGTGAC/TTTTGG`	2	I V	mis¹		1		NA	3964
rs200307684^1,2	C	--	44516311(+)	`AGGTCC/TCGGCA`	2	R G	mis¹		0	--	--	--	--
rs141504929^1,2	F	--	44516387(+)	`GAGAGG/ACGCAG`	2	/R	syn¹		1		NA	3992
rs188404221^1,2	C	--	44516415(+)	`GAAAGC/TAGCCC`	1	--	ut5¹		0	--	--	--	--
rs191528507^1,2		--	44516475(+)	`CGCCGA/CCACGC`	1	--	ut5¹		0	--	--	--	--
rs112481305^1,2	C,F	--	44516566(+)	`TAGTAG/AGTCCC`	1	--	us2k¹		1		NA	2
rs113066141^1,2	C,F	--	44516576(+)	`CCCTGC/TGGGGC`	1	--	us2k¹		1		NA	2
rs184062676^1,2		--	44516621(+)	`TTATTA/GCTCCC`	1	--	us2k¹		0	--	--	--	--
rs12912864^1,2	C	--	44516691(+)	`TCGCAA/GAGCAC`	1	--	us2k¹		0	--	--	--	--
rs28720177^1,2	C,F	--	44516826(-)	`TTCCCG/CTGCCC`	1	--	us2k¹		5		NS	174
rs28720176^1,2	C,F	--	44516980(-)	`AGTGGG/TTTGTG`	1	--	us2k¹		9		NS NA WA	294
rs148695759^1,2	C	--	44516989(+)	`CTTCC-/TTTTTT`	1	--	us2k¹		0	--	--	--	--
rs191227283^1,2		--	44517029(+)	`TCTCTC/GCCTTC`	1	--	us2k¹		0	--	--	--	--
rs28720174^1,2	C	--	44517033(-)	`TACAGA/GAGGGA`	1	--	us2k¹ trp³		6		NS WA	290
rs28720173^1,2	C	--	44517114(-)	`GGGGGA/GAAAGG`	1	--	us2k¹ tfbs³ trp³		5		NS	172
rs28720172^1,2		--	44517155(-)	`ACAGTC/TCCTTC`	1	--	us2k¹		5		NS	174
rs142196049^1,2	C	--	44517213(+)	`GTGCC-/CAACAAGT`	1	--	us2k¹		0	--	--	--	--
rs28720171^1,2	C,F	--	44517216(-)	`GACTTG/TTTGGG`	1	--	us2k¹		7		NS WA NA	184
rs145150154^1,2		--	44517334(+)	`CACAGA/GGCTAT`	1	--	us2k¹		0	--	--	--	--
rs3848146^1,2	C,H	--	44517371(-)	`GTAGAG/TTGGGA`	1	--	us2k¹		11		NS NA WA CSA	138
rs28720169^1,2	C,F	--	44517398(-)	`GACTCC/GCAGTA`	1	--	us2k¹		6		NS EA	310
rs142543311^1,2		--	44517610(+)	`CCACTG/TGCATT`	1	--	us2k¹		0	--	--	--	--
rs7182202^1,2	C,F,H	--	44517646(+)	`TTACAC/TAGGTT`	1	--	us2k¹		8		NS EA NA WA	812
rs28720168^1,2	C,F,H	--	44517733(-)	`TAACAA/GTGTTT`	1	--	us2k¹		12		NS NA WA	1092
rs372292315^1,2	C	--	44517778(+)	`ATCCCC/TTTTTT`	1	--	us2k¹		0	--	--	--	--
rs143373009^1,2		--	44517856(+)	`AAAATA/GTTTAC`	1	--	us2k¹		0	--	--	--	--
rs190635085^1,2		--	44517934(+)	`AGAGGC/TTGTGG`	1	--	us2k¹		0	--	--	--	--
rs182149943^1,2		--	44518007(+)	`AAAAAC/TACAAA`	1	--	us2k¹		0	--	--	--	--
rs185121618^1,2		--	44518036(+)	`GTGCGC/TATCTG`	1	--	us2k¹		0	--	--	--	--
rs148374464^1,2		--	44518194(+)	`GAGGAA/GCTAAG`	1	--	us2k¹		0	--	--	--	--
rs140651416^1,2	C	--	44518307(+)	`TTCCAC/GTGCTA`	1	--	us2k¹		0	--	--	--	--
rs35823554^1,2	C	--	44518528(+)	`TGTTCT/-ACCAC`	1	--	us2k¹		1		NA	2
rs117414060^1,2	C,F	--	44518530(+)	`TTCTAC/GCACCT`	1	--	us2k¹		1		NA	120
rs117831796^1,2	F	--	44518531(+)	`TCTACC/GACCTG`	1	--	us2k¹		1		NA	120
rs74671030^1,2	C,F	--	44518538(+)	`CCTGAG/CAACAA`	1	--	us2k¹		3		CSA WA EA	240
rs34573087^1,2	C	--	64455920(+)	`CATTT-/T/TT TTTTT`	1	--	us2k¹		0	--	--	--	--
rs28720170^1,2	F	--	64456006(-)	`AGGACTT/-GTTGG`	1	--	us2k¹		5		NS	184
rs10617195^1,2	C	--	64456567(+)	`CTTTT-/T/TT TTTTT`	1	--	us2k¹		1		NA	2
rs7182032^1,2	--	--	44517566(+)	`GTAGTC/GTTCAT`	1	--	us2k¹		0	--	--	--	--
rs71394543^1,2	--	--	44508998(+)	`GACTGG/AAGGGT`	1	--	ds500¹		1		NA	2
rs375647035^1,2	--	--	44515211(+)	`GGGCTC/TAGCAA`	1	--	int¹		0	--	--	--	--
rs372252231^1,2	--	--	44510347(+)	`CAGGGA/GCGCTG`	1	--	int¹		0	--	--	--	--
rs367616150^1,2	--	--	44516404(+)	`CAGGCC/GGAGGC`	1	--	ut5¹		0	--	--	--	--
rs34148786^1,2	--	--	44518337(+)	`TAAAG-/CAGTAG`	1	--	us2k¹		0	--	--	--	--
rs28720175^1,2	--	--	44517032(-)	`ACAGAA/CGGGAG`	1	--	us2k¹ trp³		5		NS	172
rs3056904^1,2	--	--	44508921(-)	`ttttt-/TTTTTT TTTTTTTTTggtag`	1	--	ds500¹		0	--	--	--	--
rs138741187^1,2	--	--	44510305(+)	`TCACCG/ATAGAT`	2	/Y	syn¹		1		NA	4550
rs373618000^1,2	--	--	44510263(+)	`GGCCCA/GTAGTG`	2	Y	syn¹		0	--	--	--	--
rs374880244^1,2	--	--	44510335(+)	`GACAGA/TGCAGG`	1	--	int¹		0	--	--	--	--
rs137853866^1,2	--	untested¹	44513543(-)	`AGGGCA/GGAGAC`	2	R G	mis¹		0	--	--	--	--
rs369831615^1,2	--	--	44510639(+)	`GGAGGG/TCTTTG`	1	--	int¹		0	--	--	--	--
rs142381852^1,2	--	--	44509431(+)	`TGTGCC/GCTACT`	1	--	ut3¹		1		NA	4552
rs28720189^1,2	--	--	44511899(-)	`GGGCAG/TGGAGA`	1	--	int¹		5		NS	190
rs1804426^1,2	--	--	44509353(-)	`TGGCCC/TCGGTG`	1	--	ut3¹		0	--	--	--	--
rs137853867^1,2	--	untested¹	44513512(-)	`AGGAGA/GTAACC`	1	--	spd¹		0	--	--	--	--
rs367916633^1,2	--	--	44509398(+)	`CTGCAC/TAGACG`	1	--	ut3¹		0	--	--	--	--
rs112726573^1,2	--	--	44513179(+)	`CCCACAT/-GTCTT`	1	--	int¹		1		CSA	2
rs1803362^1,2	--	--	44509327(-)	`GCGGAA/CCCACT`	1	--	ut3¹		0	--	--	--	--
rs202116920^1,2	--	--	44509351(+)	`AGCACC/TGGGGC`	1	--	ut3¹		1		EU	581
rs151284742^1,2	--	--	44510143(+)	`CCCTCT/CAGAAC`	2	/L	syn¹		1		NA	4552
rs35638198^1,2	--	--	44514326(+)	`GTGCT-/GGGGAT`	1	--	int¹		0	--	--	--	--
rs369181494^1,2	--	--	44509605(+)	`TCCACC/TGCTCA`	1	--	int¹		0	--	--	--	--
rs200779927^1,2	--	--	44514311(+)	`TCCTCC/TGCCTC`	1	--	int¹		0	--	--	--	--
rs372796450^1,2	--	--	44513640(+)	`GTGGTA/GTGGGG`	1	--	int¹		0	--	--	--	--
rs372323694^1,2	--	--	44514665(+)	`TGCGCC/TGGCCT`	1	--	int¹		0	--	--	--	--
rs34415481^1,2	--	--	44514973(+)	`CTACT-/AAAAAT`	1	--	int¹		0	--	--	--	--
rs377032173^1,2	--	--	44509578(+)	`AGCAGA/GAGGGC`	1	--	int¹		0	--	--	--	--
rs137853865^1,2	--	untested¹	44516276(-)	`GGGCC-/CAAAGT`	2	S V	fra¹		0	--	--	--	--
rs369334476^1,2	--	--	44510197(+)	`ACTGTC/TTGATG`	2	T	syn¹		0	--	--	--	--
rs368728857^1,2	--	--	44514659(+)	`AGTTAC/TGCGCC`	1	--	int¹		0	--	--	--	--
rs1804427^1,2	--	--	44509463(-)	`CGAGGC/TGGAGA`	2	A V	mis¹		0	--	--	--	--
rs137853869^1,2	--	untested¹	44509524(-)	`GCACC-/AAGA CAGAC`	2	Q KT	fra¹		0	--	--	--	--
rs368454186^1,2	--	--	44513585(+)	`TTTGCC/TGTTTT`	2	S G	mis¹		0	--	--	--	--
rs373715158^1,2	--	--	44515560(+)	`AAAATA/GCACCT`	2	H Y	mis¹		0	--	--	--	--
rs374723458^1,2	--	--	44516089(+)	`GCAGGA/GCTGGG`	1	--	int¹		0	--	--	--	--
rs375891105^1,2	--	--	44514644(+)	`GGGACC/TCAGGC`	1	--	int¹		0	--	--	--	--
rs377084281^1,2	--	--	44513482(+)	`CTGACA/GTACTC`	1	--	int¹		0	--	--	--	--
rs368514865^1,2	--	--	44516223(+)	`GGCCCA/GAGCTC`	1	--	int¹		0	--	--	--	--
rs199971446^1,2	--	--	44513518(+)	`CTCCTA/GTGCCA`	2	T I	mis¹		0	--	--	--	--
rs370932084^1,2	--	--	44515465(+)	`GCTAAA/GGCCAC`	2	A	syn¹		0	--	--	--	--
rs367847142^1,2	--	--	44514112(+)	`GTGCAA/GGGCAC`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for PPIB (64448011 - 64455404 bp)

Structural Variations
Database of Genomic Variants (DGV) 2 variations for PPIB: About this table

Variant ID	Type	Subtype	PubMed ID
nsv833036	CNV	Loss	17160897
nsv827360	CNV	Loss	20364138

Human Gene Mutation Database (HGMD): PPIB
Locus Specific Mutation Databases (LSDB): PPIB

Site Specific Mutation Identification with PCR Assays

SeqTarget long-range PCR primers for resequencing PPIB

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 123841
OMIM disorders: 259440
UniProtKB/Swiss-Prot: PPIB_HUMAN, P23284

Osteogenesis imperfecta 9 (OI9) [MIM:259440]: A form of osteogenesis imperfecta, a connective tissue

disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma.

Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality.

Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing

loss, and blue sclerae. OI9 is a severe autosomal recessive form of the disorder. Note=The disease is caused by

mutations affecting the gene represented in this entry

8 diseases for PPIB:
About MalaCards

japanese encephalitis osteogenesis imperfecta, type ii osteogenesis imperfecta type iii osteogenesis imperfecta, type xv

1 inferred disease relationship from the University of Copenhagen DISEASES database for PPIB:

Osteogenesis imperfecta

Find genes that share disorders with PPIB About GenesLikeMe

Genetic Association Database (GAD): PPIB
Human Genome Epidemiology (HuGE) Navigator: PPIB (1 document)

Export disorders for PPIB gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for PPIB gene, integrated from 10 sources (see all 122):
(articles sorted by number of sources associating them with PPIB)

Utopia: connect your pdf to the dynamic
world of online information

Human cyclophilin B: a second cyclophilin gene encodes a peptidyl- prolyl isomerase with a signal sequence. (PubMed id 2000394)^{1, 2, 3, 9} Price E.R....Walsh C.T. (Proc. Natl. Acad. Sci. U.S.A. 1991)
Lack of cyclophilin B in osteogenesis imperfecta with normal collagen folding. (PubMed id 20089953)^{1, 2, 3, 9} Barnes A.M....Marini J.C. (N. Engl. J. Med. 2010)
PPIB mutations cause severe osteogenesis imperfecta. (PubMed id 19781681)^{1, 2, 9} van Dijk F.S.... Pals G. (Am. J. Hum. Genet. 2009)
A novel secreted cyclophilin-like protein (SCYLP). (PubMed id 2040592)^{1, 2, 9} Spik G.... Movva N.R. (J. Biol. Chem. 1991)
Proteomic and bioinformatic characterization of the biogenesis and function of melanosomes. (PubMed id 17081065)^{1, 2} Chi A....Hunt D.F. (J. Proteome Res. 2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
X-ray structure of a cyclophilin B/cyclosporin complex: comparison with cyclophilin A and delineation of its calcineurin-binding domain. (PubMed id 8197205)^{1, 2} Mikol V.... Walkinshaw M.D. (Proc. Natl. Acad. Sci. U.S.A. 1994)
S-cyclophilin is retained intracellularly via a unique COOH-terminal sequence and colocalizes with the calcium storage protein calreticulin. (PubMed id 1530944)^{1, 2} Arber S.... Caroni P. (J. Cell Biol. 1992)
Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes. (PubMed id 1286667)^{1, 2} Rasmussen H.H....Vandekerckhove J. (Electrophoresis 1992)
An endoplasmic reticulum-specific cyclophilin. (PubMed id 1710767)^{1, 2} Hasel K.W.... Sutcliffe J.G. (Mol. Cell. Biol. 1991)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 5479	HGNC: 9255	AceView: PPIB	Ensembl:ENSG00000166794	euGenes: HUgn5479
ECgene: PPIB	H-InvDB: PPIB

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for PPIB	Pharmacogenomics, SNPs, Pathways
NIEHS-SNPs	http://egp.gs.washington.edu/data/ppib/
Osteogenesis imperfecta variant database	http://oi.gene.le.ac.uk/home.php?select_db=PPIB

Intellectual Property for PPIB gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for PPIB gene:
Search GeneIP for patents involving PPIB

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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PPIB Gene

Peptidylprolyl Isomerase B (Cyclophilin B)

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Peptidylprolyl Isomerase B (Cyclophilin B)

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