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CRYBB2P1 Gene

pseudogene   GIFtS: 25
GCID: GC22P025847

Crystallin, Beta B2 Pseudogene 1


(Previous symbol: CRYB2B)
  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
Crystallin, Beta B2 Pseudogene 11 2
CRYB2B1 2

External Ids:    HGNC: 23991   Entrez Gene: 14162   Ensembl: ENSG000001000587   

Export aliases for CRYBB2P1 gene to outside databases

Previous GC identifers: GC22P022540 GC22P024168 GC22P025845 GC22P008791


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for CRYBB2P1 Gene:
CRYBB2P1 (crystallin, beta B2 pseudogene 1) is a pseudogene. Diseases associated with CRYBB2P1 include cerulean cataract, and neurofibromatosis.


(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:
NC_000022.11  NC_018933.2  NT_011520.13  
Regulatory elements:
   Search for regulatory transcription factor binding sites for CRYBB2P1
         Other transcription factors

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Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CRYBB2P1


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

Entrez Gene cytogenetic band: 22q11.2-q12.1   Ensembl cytogenetic band:  22q11.23   HGNC cytogenetic band: 22q11.2-q12.1

CRYBB2P1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CRYBB2P1 gene location

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P025847:  view genomic region     (about GC identifiers)

Start:
25,844,054 bp from pter      End:
25,916,821 bp from pter
Size:
72,768 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: --


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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(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:
     Genatlas biochemistry entry for CRYBB2P1:
crystallin,beta polypeptide B2,pseudogene 1 (see CRYB@)

Animal Models:
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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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(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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Interactions:

    Search GeneGlobe Interaction Network for CRYBB2P1

(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 Tocris compounds for CRYBB2P1



(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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Unigene Cluster for CRYBB2P1:

Crystallin, beta B2 pseudogene 1
Hs.571835  [show with all ESTs]
Unigene Representative Sequence: BC014216
6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000382734(uc003abt.3 uc003abu.3) ENST00000415709 ENST00000354451(uc003abv.3)
ENST00000509460 ENST00000609084 ENST00000609513
miRNA
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Additional mRNA sequence: 

BC004918.2 BC014216.2 BC037884.1 BC047380.1 NR_033733.1 NR_033734.1 

20 DOTS entries:

DT.95161733  DT.91762033  DT.100031437  DT.91762031  DT.95278732  DT.100774370  DT.120646193  DT.100774371 
DT.120646122  DT.120646267  DT.70104156  DT.92052241  DT.100019422  DT.100031435  DT.91891950  DT.95286813 
DT.120646216  DT.120646233  DT.121607797  DT.40271179 

Selected AceView cDNA sequences (see all 134):

BM928787 AA100391 BE796362 BE298690 BE501161 AW769908 BU616356 BC047380 
BQ446689 BM510569 AA281467 BQ433813 AA455810 AA235705 AW768511 BM479766 
CK902415 AI961156 BQ900578 BQ069773 BC037884 BU071205 AI355405 AA292582 

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for CRYBB2P1    About this scheme

ExUns: 1 ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b
SP1:                                                      
SP2:        -                                             
SP3:                                                      


ECgene alternative splicing isoforms for CRYBB2P1

(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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CRYBB2P1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: --
CRYBB2P1 Expression
About this image

CRYBB2P1 Protein expression data from MOPED1, PaxDb2 and MaxQB3 --

SOURCE GeneReport for Unigene cluster: Hs.571835
    Custom PCR Arrays for CRYBB2P1
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In Situ
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(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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ENSEMBL Gene Tree for CRYBB2P1 (if available)
TreeFam Gene Tree for CRYBB2P1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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(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 CRYBB2P1 (see all 390)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 22 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs668669901,2
C--8793944(+) TAAAC-/T/TTTT
        
TTTTT
2 -- int11NA 2
rs57521501,2
C,F,A,H--25842086(+) tgttaT/Cgtaaa 2 -- us2k118Minor allele frequency- C:0.39NS EA NA WA 2342
rs791403561,2
C,F--25842139(+) AGGCCG/AAGCGT 2 -- us2k11Minor allele frequency- A:0.03NA 120
rs1402350321,2
--25842215(+) AATTCA/GAGACC 2 -- us2k10--------
rs2022195081,2
C--25842293(+) GCACC-/GTAATC 2 -- us2k10--------
rs562547141,2
--25842346(+) AGAAGA/GCAGTG 2 -- us2k10--------
rs1379341061,2
--25842403(+) AAGAGC/TGAAAC 2 -- us2k10--------
rs1463170651,2
C--25842416(+) TGTCT-/CAAA  
        
CAAAC
2 -- us2k10--------
rs1430428421,2
C--25842524(+) GGTGCA/GGTGGC 2 -- us2k10--------
rs1891819511,2
C--25842566(+) CAAGGC/TGGGCA 2 -- us2k10--------

HapMap Linkage Disequilibrium report for CRYBB2P1 (25844054 - 25916821 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for CRYBB2P1 (see all 61):    About this table    
Variant IDTypeSubtypePubMed ID
dgv828e199CNV Deletion23128226
esv2724087CNV Deletion23290073
nsv436354CNV Deletion17901297
dgv778e201CNV Deletion23290073
nsv436355CNV Deletion17901297
nsv436347CNV Deletion17901297
nsv436865CNV Insertion17901297
nsv469622CNV Loss16826518
nsv471190CNV Loss18288195
dgv4939n71CNV Loss21882294

Site Specific Mutation Identification with PCR Assays
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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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4 diseases for CRYBB2P1:    
About MalaCards
cerulean cataract    neurofibromatosis    cataract    bipolar disorder


CRYBB2P1 for disorders           About GeneDecksing


Export disorders for CRYBB2P1 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 CRYBB2P1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with CRYBB2P1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. A second gene for cerulean cataracts maps to the beta crystallin region on chromosome 22. (PubMed id 8812489)1, 9 Kramer P....Litt M. (Genomics 1996)
  2. Genome-wide association of mood-incongruent psychotic bipolar disorder. (PubMed id 23092984)1 Goes F.S....Potash J.B. (Transl Psychiatry 2012)
  3. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
  4. Direct assignment of the human beta B2 and beta B3 crystallin genes to 22q11.2----q12: markers for neurofibromatosis 2. (PubMed id 2055112)1 Hulsebos T.J....Westerveld A. (Cytogenet. Cell Genet. 1991)
  5. Linkage between the beta B2 and beta B3 crystallin genes in man and rat: a remnant of an ancient beta-crystallin gene cluster. (PubMed id 3436525)1 Aarts H.J....Schoenmakers J.G. (Gene 1987)
  6. The beta crystallin genes on human chromosome 22 define a new region of homology with mouse chromosome 5. (PubMed id 7789995)9 Hulsebos T.J....Copeland N.G. (Genomics 1995)
  7. Regional fine mapping of the beta crystallin genes on chromosome 22 excludes these genes as physically linked markers for neurofibromatosis type 2. (PubMed id 7504514)9 Bijlsma E.K.... Hulsebos T.J.M. (Genes Chromosomes Cancer 1993)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
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: 1416 HGNC: 2399 AceView: CRYBB2P1 Ensembl:ENSG00000100058 euGenes: HUgn1416
ECgene: CRYBB2P1 H-InvDB: CRYBB2P1

(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 CRYBB2P1 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 CRYBB2P1 gene:
Search GeneIP for patents involving CRYBB2P1

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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