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FKBP1B Gene

protein-coding   GIFtS: 50
GCID: GC02P024272

FK506 Binding Protein 1B, 12.6 KDa

(Previous name: FK506-binding protein 1B (12.6 kD))
(Previous symbol: FKBP1L)
  See related diseases
at  

(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
FK506 Binding Protein 1B, 12.6 KDa1 2     h-FKBP-122 3
FKBP1L1 2 3     PPIase FKBP1B2 3
Calstabin 21 2     EC 5.2.1.83 8
Immunophilin FKBP12.62 3     PKBP1L2 5
12.6 KDa FK506-Binding Protein2 3     FK506-Binding Protein 1B (12.6 KD)1
12.6 KDa FKBP2 3     PPIase2
FKBP-12.62 3     FK506-Binding Protein 12.62
FKBP-1B2 3     Peptidyl-Prolyl Cis-Trans Isomerase FKBP1B2
FKBP12.62 3     rotamase2
OTK42 3     FKBP93
FK506-Binding Protein 1B2 3     Rotamase3

External Ids:    HGNC: 37121   Entrez Gene: 22812   Ensembl: ENSG000001197827   OMIM: 6006205   UniProtKB: P681063   

Export aliases for FKBP1B gene to outside databases

Previous GC identifers: GC02P024188 GC02P024365 GC02P024230 GC02P024248 GC02P024249 GC02P024184 GC02P024126 GC02P024011


(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 FKBP1B Gene:
The protein encoded by this gene is a member of the immunophilin protein family, which play a role in
immunoregulation and basic cellular processes involving protein folding and trafficking. This encoded protein is
a cis-trans prolyl isomerase that binds the immunosuppressants FK506 and rapamycin. It is highly similar to the
FK506-binding protein 1A. Its physiological role is thought to be in excitation-contraction coupling in cardiac
muscle. There are two alternatively spliced transcript variants of this gene encoding different isoforms.
(provided by RefSeq, Jul 2008)

GeneCards Summary for FKBP1B Gene:
FKBP1B (FK506 binding protein 1B, 12.6 kDa) is a protein-coding gene. Diseases associated with FKBP1B include catecholaminergic polymorphic ventricular tachycardia, and left ventricular noncompaction. GO annotations related to this gene include peptidyl-prolyl cis-trans isomerase activity and receptor binding. An important paralog of this gene is FKBP5.

UniProtKB/Swiss-Prot: FKB1B_HUMAN, P68106
Function: Has the potential to contribute to the immunosuppressive and toxic effects of FK506 and rapamycin.
PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide
bonds in oligopeptides

Gene Wiki entry for FKBP1B 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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Regulatory elements:
   Regulatory transcription factor binding sites in the FKBP1B gene promoter:
         FOXC1   Sp1   RREB-1   YY1   Ik-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidFKBP1B promoter sequence
   Search Chromatin IP Primers for FKBP1B

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat FKBP1B


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

Entrez Gene cytogenetic band: 2p23.3   Ensembl cytogenetic band:  2p23.3   HGNC cytogenetic band: 2p23.3

FKBP1B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
FKBP1B gene location

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02P024272:  view genomic region     (about GC identifiers)

Start:
24,272,571 bp from pter      End:
24,286,551 bp from pter
Size:
13,981 bases      Orientation:
plus 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: FKB1B_HUMAN, P68106 (See protein sequence)
Recommended Name: Peptidyl-prolyl cis-trans isomerase FKBP1B  
Size: 108 amino acids; 11783 Da
Subunit: Identified in a complex composed of RYR2, FKBP1B, PKA catalytic subunit, PRKAR2A, AKAP6, and the protein
phosphatases PP2A and PP1. Interacts directly with RYR2
4 PDB 3D structures from and Proteopedia for FKBP1B:
1C9H (3D)        4C02 (3D)        4IQ2 (3D)        4IQC (3D)    
Secondary accessions: Q13664 Q16645 Q53TM2 Q9BQ40
Alternative splicing: 2 isoforms:  P68106-1, Q16645-1   P68106-2, Q16645-2   

Explore the universe of human proteins at neXtProt for FKBP1B: NX_P68106

Explore proteomics data for FKBP1B at MOPED

Selected DME Specific Peptides for FKBP1B (P68106) (see all 7)
 GKKFDSS  TLIFDVE  IPPNATL  KFDSSRDR 


See FKBP1B Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins (2 alternative transcripts): 
NP_004107.1  NP_473374.1  

ENSEMBL proteins: 
 ENSP00000370379   ENSP00000370373   ENSP00000416349   ENSP00000406593   ENSP00000397444  

FKBP1B Human Recombinant Protein Products:

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Cloud-Clone Corp. CLIAs for FKBP1B


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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2 InterPro protein domains:
 IPR023566 PPIase_FKBP
 IPR001179 PPIase_FKBP_dom

Graphical View of Domain Structure for InterPro Entry P68106

ProtoNet protein and cluster: P68106

UniProtKB/Swiss-Prot: FKB1B_HUMAN, P68106
Similarity: Belongs to the FKBP-type PPIase family. FKBP1 subfamily
Similarity: Contains 1 PPIase FKBP-type domain


FKBP1B for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: FKB1B_HUMAN, P68106
Function: Has the potential to contribute to the immunosuppressive and toxic effects of FK506 and rapamycin.
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: Inhibited by both FK506 and rapamycin

     Enzyme Number (IUBMB): EC 5.2.1.81 2

     Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003755peptidyl-prolyl cis-trans isomerase activity IDA7513996
GO:0005102receptor binding IPI10830164
GO:0005219contributes to ryanodine-sensitive calcium-release channel activity TAS11322937
GO:0005515protein binding IPI10830164
GO:0005528FK506 binding IDA7592869
     
FKBP1B for ontologies           About GeneDecksing


Phenotypes:
     6 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Fkbp1b):
 cardiovascular system  endocrine/exocrine gland  homeostasis/metabolism  mortality/aging  muscle 
 no phenotypic analysis 

FKBP1B for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-outs for FKBP1B: Fkbp1btm1Syf Fkbp1btm1Amks Fkbp1btm1.1Okam

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for FKBP1B
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   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for FKBP1B

miRNA
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miRTarBase miRNAs that target FKBP1B:
hsa-mir-26b-5p (MIRT028949), hsa-mir-24-3p (MIRT030378), hsa-mir-375 (MIRT019735)

Block miRNA regulation of human, mouse, rat FKBP1B using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate FKBP1B (see all 16):
hsa-miR-3910 hsa-miR-34b* hsa-miR-892b hsa-miR-449a hsa-miR-766 hsa-miR-124 hsa-miR-149 hsa-miR-506
SwitchGear 3'UTR luciferase reporter plasmidFKBP1B 3' UTR sequence
Inhib. RNA
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OriGene RNAi products in human, mouse, rat for FKBP1B
Predesigned siRNA for gene silencing in human, mouse, rat FKBP1B

Gene Editing
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OriGene ORF clones in mouse, rat for FKBP1B
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GenScript: all cDNA clones in your preferred vector (see all 2): FKBP1B (NM_004116)
Sino Biological Human cDNA Clone for FKBP1B
DNA2.0 Custom Codon Optimized Gene Synthesis Service for FKBP1B
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FKBP1B

Cell Line
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GenScript Custom overexpressing Cell Line Services for FKBP1B
Browse ESI BIO Cell Lines and PureStem Progenitors for FKBP1B 
In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FKBP1B


(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
FKB1B_HUMAN, P68106: Cytoplasm (By similarity). Sarcoplasmic reticulum (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol3
endoplasmic reticulum3

Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005737cytoplasm IDA12443530
GO:0005829cytosol IC7592869
GO:0016020membrane IDA12443530
GO:0016529sarcoplasmic reticulum ----
GO:0030018Z disc IDA--

FKBP1B for ontologies           About GeneDecksing


(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 FKBP1B About    
See pathways by source

SuperPathContained pathways About
1Integrated Pancreatic Cancer Pathway
Integrated Pancreatic Cancer Pathway
2Antiarrhythmic Pathway, Pharmacodynamics
Antiarrhythmic Pathway, Pharmacodynamics


1 BioSystems Pathway for FKBP1B
    Integrated Pancreatic Cancer Pathway


1 PharmGKB Pathway for FKBP1B
    Antiarrhythmic Pathway, Pharmacodynamics

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for FKBP1B
Interactions:

    GeneGlobe Interaction Network for FKBP1B

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

Selected Interacting proteins for FKBP1B (P681061, 3 ENSP000003703734) via UniProtKB, MINT, STRING, and/or I2D (see all 141)
InteractantInteraction Details
GeneCardExternal ID(s)
RYR2Q927361, 3, ENSP000003555334EBI-6693977,EBI-1170425 I2D: score=2 STRING: ENSP00000355533
BMPR1AP368943I2D: score=1 
AKAP6ENSP000002809794STRING: ENSP00000280979
CACNA1BENSP000002775494STRING: ENSP00000277549
CACNA1CENSP000002663764STRING: ENSP00000266376
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Gene Ontology (GO): Selected biological process terms (see all 34):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000413protein peptidyl-prolyl isomerization IDA7513996
GO:0002027regulation of heart rate ----
GO:0006457protein folding ----
GO:0006458'de novo' protein folding TAS11322937
GO:0006936muscle contraction ----

FKBP1B for ontologies           About GeneDecksing



(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 FKBP1B (FKB1B)

8 Novoseek inferred chemical compound relationships for FKBP1B gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
ryanodine 90.7 32 9176165 (3), 8702774 (2), 12446682 (2), 10336416 (1) (see all 21)
tacrolimus 72.2 21 7592869 (3), 17313373 (3), 8702774 (2), 15497458 (2) (see all 14)
calcium 58.8 28 17313373 (6), 15967847 (2), 7527548 (2), 8702774 (1) (see all 17)
rapamycin 52.7 9 8413204 (3), 7592869 (2), 12443530 (1), 18759859 (1)
carvedilol 41.7 1 16191273 (1)
caffeine 25.8 1 12919952 (1)
isoproterenol 12.8 1 12919952 (1)
lipid 5.67 4 9176165 (1), 7527548 (1), 11397781 (1), 12743001 (1)



FKBP1B for compounds           About GeneDecksing



(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, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for FKBP1B gene (2 alternative transcripts): 
NM_004116.3  NM_054033.2  

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000380991(uc002res.3) ENST00000380986(uc002rer.3) ENST00000438630(uc002ret.3)
ENST00000496149 ENST00000452109 ENST00000421839
miRNA
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Block miRNA regulation of human, mouse, rat FKBP1B using miScript Target Protectors
Selected qRT-PCR Assays for microRNAs that regulate FKBP1B (see all 16):
hsa-miR-3910 hsa-miR-34b* hsa-miR-892b hsa-miR-449a hsa-miR-766 hsa-miR-124 hsa-miR-149 hsa-miR-506
SwitchGear 3'UTR luciferase reporter plasmidFKBP1B 3' UTR sequence
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for FKBP1B
Predesigned siRNA for gene silencing in human, mouse, rat FKBP1B
Clone
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OriGene clones in human, mouse for FKBP1B (see all 13)
OriGene ORF clones in mouse, rat for FKBP1B
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector (see all 2): FKBP1B (NM_004116)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for FKBP1B
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat FKBP1B
Primer
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OriGene qPCR primer pairs and template standards for FKBP1B
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Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FKBP1B
  QuantiTect SYBR Green Assays in human, mouse, rat FKBP1B
  QuantiFast Probe-based Assays in human, mouse, rat FKBP1B

Selected AceView cDNA sequences (see all 106):

BX644798 AW440529 BM709528 BQ001343 AA778361 BQ448196 BF969580 CR614690 
AI347804 BM716287 AA403064 CR607749 NM_054033 AA831473 BC002614 AI350209 
CR626535 AA760992 N57494 BM802489 AI352461 CR616275 BC033385 BC050998 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for FKBP1B (see all 8)    About this scheme

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2a · 2b ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c · 6d · 6e · 6f · 6g · 6h · 6i
SP1:                                                        -           -                                                               
SP2:                                                        -     -     -                                                               
SP3:                                                  -     -           -           -                                                   
SP4:                                                  -     -     -     -                                                               
SP5:                                                  -     -     -     -           -                                                   


ECgene alternative splicing isoforms for FKBP1B

(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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FKBP1B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: GCGTACCGTA
FKBP1B Expression
About this image


FKBP1B expression in embryonic tissues and stem cells    About this table
Data from LifeMap, the Embryonic Development and Stem Cells Database
 selected tissues (see all 2) fully expand
 
 Blood (Hematopoietic System)
         Hematopoietic Stem Cells Hematopoietic Bone Marrow
 
 Brain (Nervous System)
FKBP1B Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

FKBP1B Protein Expression

UniProtKB/Swiss-Prot: FKB1B_HUMAN, P68106
Tissue specificity: Detected in heart muscle (at protein level). Isoform 1 and isoform 2 are ubiquitous with
highest levels in brain and thymus

    Custom PCR Arrays for FKBP1B
Primer
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OriGene qSTAR qPCR primer pairs in human, mouse for FKBP1B
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat FKBP1B
QuantiTect SYBR Green Assays in human, mouse, rat FKBP1B
QuantiFast Probe-based Assays in human, mouse, rat FKBP1B
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for FKBP1B

(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 animals and fungi.

Orthologs for FKBP1B gene from Selected species (see all 16)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Fkbp1b1 , 5 FK506 binding protein 1b1, 5 94.44(n)1
97.22(a)1
  12 (2.09 cM)5
142261  NM_016863.31  NP_058559.31 
 48331755 
chicken
(Gallus gallus)
Aves FKBP1B1 FK506 binding protein 1B, 12.6 kDa 86.11(n)
91.67(a)
  395254  NM_204567.1  NP_989898.1 
lizard
(Anolis carolinensis)
Reptilia FKBP1B6
FK506 binding protein 1B, 12.6 kDa
92(a)
1 ↔ 1
1(140216925-140246606)
African clawed frog
(Xenopus laevis)
Amphibia Xl.219342 Xenopus laevis, Similar to FK506 binding protein 1B, more 81.54(n)    BC041748.1 
zebrafish
(Danio rerio)
Actinopterygii zgc733812 hypothetical protein MGC73381 80.25(n)   393785  BC059689.1 
fruit fly
(Drosophila melanogaster)
Insecta FK506-bp23 protein folding FK506 binding 69(a)   56C8   --
worm
(Caenorhabditis elegans)
Secernentea fkb-26
Protein FKB-2 (fkb-2) mRNA, complete cds
56(a)
many ↔ many
I(12918722-12919293) WBGene00001427
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes FPR16
Peptidyl-prolyl cis-trans isomerase (PPIase), bind...
53(a)
1 → many
XIV(371882-372226) YNL135C


ENSEMBL Gene Tree for FKBP1B (if available)
TreeFam Gene Tree for FKBP1B (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for FKBP1B gene
FKBP52  FKBP1A2  FKBP1C2  FKBP42  FKBP82  FKBP62  FKBP32  
16 SIMAP similar genes for FKBP1B using alignment to 4 protein entries:     FKB1B_HUMAN (see all proteins):
FKBP12-Exip3    FKBP12-Exin    FKBP1A    FKBP1C    FKBP12-Exip2    FKBP5
FKBP4    FKBP2    FKBP6    FKBP10    FKBP9    DKFZp666D193
FKBP11    FKBP14    FKBP7    FKBP8

FKBP1B for paralogs           About GeneDecksing


1 Pseudogenes.org Pseudogene for FKBP1B
PGOHUM00000248148


(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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Selected SNPs for FKBP1B (see all 256)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 2 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs134134501,2
C,F,H--24272396(+) GAATGG/TATGGA 2 -- us2k1 tfbs38Minor allele frequency- T:0.07EA NS NA CSA 412
rs1488765811,2
--24272462(+) GCGGGA/GCCAGG 2 -- us2k10--------
rs1165207861,2
C,F--24272645(+) GACGGC/TGGGGC 2 -- ut511Minor allele frequency- T:0.25NA 120
rs1116341631,2
C,F--24272657(+) GGGGCT/CGGAGC 2 -- ut511Minor allele frequency- C:0.00CSA 1
rs116781391,2
H--24273393(+) TACGGC/GCGAAC 2 -- int10--------
rs1475838851,2
--24273399(+) CGAACA/CTCTCC 2 -- int10--------
rs1836418221,2
--24273529(+) ATTACA/TGGGTC 2 -- int10--------
rs1420921551,2
--24273594(+) AGCCCC/GCATTG 2 -- int10--------
rs37696681,2
C,F,H--24273600(-) TGCAGA/GCAATG 2 -- int113Minor allele frequency- G:0.07EA NS NA 3062
rs1887767231,2
--24273675(+) TGGATA/TACTTC 2 -- int10--------

HapMap Linkage Disequilibrium report for FKBP1B (24272571 - 24286551 bp)

Structural Variations
      Database of Genomic Variants (DGV) variations for FKBP1B: --
Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing FKBP1B
DNA2.0 Custom Variant and Variant Library Synthesis for FKBP1B

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 600620    OMIM disorders: --

14 diseases for FKBP1B:    
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catecholaminergic polymorphic ventricular tachycardia    left ventricular noncompaction    arrhythmogenic right ventricular dysplasia    long qt syndrome
familial hypertrophic cardiomyopathy    hypertrophic cardiomyopathy    septic shock    dilated cardiomyopathy
essential hypertension    hypertension    pancreatic cancer    pancreatitis
thyroiditis    neuronitis


FKBP1B for disorders           About GeneDecksing

6 Novoseek inferred disease relationships for FKBP1B gene    About this table

Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
ventricular tachycardia, catecholaminergic polymorphic 91.6 1 12837242 (1)
death sudden cardiac 66.4 1 12837242 (1)
arrhythmia 59.5 3 12837242 (1), 17606610 (1), 15073377 (1)
death sudden 57.3 1 17313373 (1)
heart failure 56.8 8 12743001 (2), 16191273 (1), 17606610 (1), 15073377 (1) (see all 7)
tachycardia ventricular 42.6 1 17313373 (1)

Genetic Association Database (GAD): FKBP1B
Human Genome Epidemiology (HuGE) Navigator: FKBP1B (1 document)

Export disorders for FKBP1B 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 FKBP1B gene, integrated from 10 sources (see all 77):
(articles sorted by number of sources associating them with FKBP1B)
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  1. Molecular cloning and expression of a novel human gene that is highly homologous to human FK506-binding protein 12kDa (hFKBP-12) and characterization of two alternatively spliced transcripts. (PubMed id 7513996)1, 2, 3, 9 Arakawa H....Nakamura Y. (Biochem. Biophys. Res. Commun. 1994)
  2. Genomic organization, chromosomal localization, and promoter of human gene for FK506-binding protein 12.6. (PubMed id 16122887)1, 2, 9 Nakazawa T.... Okamoto H. (Gene 2005)
  3. A novel FK506 binding protein can mediate the immunosuppressive effects of FK506 and is associated with the cardiac ryanodine receptor. (PubMed id 7592869)1, 2, 9 Lam E.... Wiederrecht G.J. (J. Biol. Chem. 1995)
  4. PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts. (PubMed id 10830164)1, 2, 9 Marx S.O.... Marks A.R. (Cell 2000)
  5. Association of EDNRA, but not WNK4 or FKBP1B, polymorphisms with essential hypertension. (PubMed id 14616768)1, 4, 9 Benjafield A.V....Morris B.J. (Clin. Genet. 2003)
  6. Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae. (PubMed id 19197348)1, 4 Lowe J.K....Friedman J.M. (PLoS Genet. 2009)
  7. 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)
  8. Structure of FKBP12.6 in complex with rapamycin. (PubMed id 10713512)1, 2 Deivanayagam C.C....Chodavarapu R.S. (Acta Crystallogr. D 2000)
  9. K201 (JTV519) suppresses spontaneous Ca2+ release and [3H]ryanodine binding to RyR2 irrespective of FKBP12.6 association. (PubMed id 17313373)1, 9 Hunt D.J....Chen S.R. (Biochem. J. 2007)
  10. In situ modulation of the human cardiac ryanodine receptor (hRyR2) by FKBP12.6. (PubMed id 12443530)1, 9 George C.H....Lai F.A. (Biochem. J. 2003)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Disorders
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: 2281 HGNC: 3712 AceView: FKBP1B Ensembl:ENSG00000119782 euGenes: HUgn2281
ECgene: FKBP1B H-InvDB: FKBP1B

(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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NameDescription
PharmGKB entry for FKBP1B Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for FKBP1B gene:
Search GeneIP for patents involving FKBP1B

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



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Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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