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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CRYGB Gene

protein-coding   GIFtS: 48
GCID: GC02M209007

crystallin, gamma B

(Previous names: crystallin, gamma 1-2 )
(Previous symbol: CRYG2)
 Explore 5 diseases affiliated with
CRYGB via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CRYGB    

Aliases
for CRYGB gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Crystallin, Gamma B1 2
CRYG21 2 3 5
Crystallin, Gamma 1-21 2
Gamma-Crystallin B2
Gamma-B-Crystallin1
Gamma-Crystallin 1-23

External Ids:    HGNC: 24091   Entrez Gene: 14192   Ensembl: ENSG000001821877   OMIM: 1236705   UniProtKB: P073163   

Export aliases for CRYGB gene to outside databases

Previous GC identifers: GC02M207175 GC02M207718 GC02M208971 GC02M209209 GC02M208832 GC02M208715 GC02M200855


Summaries
for CRYGB gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CRYGB:
Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the
major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. Since lens
central fiber cells lose their nuclei during development, these crystallins are made and then retained throughout
life, making them extremely stable proteins. Mammalian lens crystallins are divided into alpha, beta, and gamma
families; beta and gamma crystallins are also considered as a superfamily. Alpha and beta families are further divided
into acidic and basic groups. Seven protein regions exist in crystallins: four homologous motifs, a connecting
peptide, and N- and C-terminal extensions. Gamma-crystallins are a homogeneous group of highly symmetrical, monomeric
proteins typically lacking connecting peptides and terminal extensions. They are differentially regulated after early
development. Four gamma-crystallin genes (gamma-A through gamma-D) and three pseudogenes (gamma-E, gamma-F, gamma-G)
are tandemly organized in a genomic segment as a gene cluster. Whether due to aging or mutations in specific genes,
gamma-crystallins have been involved in cataract formation. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: CRGB_HUMAN, P07316
Function: Crystallins are the dominant structural components of the vertebrate eye lens

Gene Wiki entry for CRYGB


Genomic Views
for CRYGB 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CRYGB gene promoter:
         AREB6   SRF   HEN1   PPAR-gamma1   SRF (504 AA)   Olf-1   c-Myb   PPAR-gamma2   ATF6   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CRYGB promoter sequence
   Search SABiosciences Chromatin IP Primers for CRYGB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CRYGB


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

Entrez Gene cytogenetic band: 2q34   Ensembl cytogenetic band:  2q34   HGNC cytogenetic band: 2q34

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M209007:  view genomic region     (about GC identifiers)

Start:
 209,007,297 bp from pter      End:
 209,010,892 bp from pter
Size:
 3,596 bases      Orientation:
 minus strand

Proteins
for CRYGB gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CRGB_HUMAN, P07316 (See protein sequence)
Recommended Name: Gamma-crystallin B  
Size: 175 amino acids; 20908 Da
Subunit: Monomer (By similarity)
6/9 PDB 3D structures from and Proteopedia for CRYGB (see all 9):
1LEU (3D)        1MYV (3D)        1MYX (3D)        1MYY (3D)        1MZ1 (3D)        1MZ2 (3D)    
Secondary accessions: Q17RB5 Q53ST2

Explore the universe of human proteins at neXtProt for CRYGB: NX_P07316

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P07316

    • CRYGB Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_005201.2  
    ENSEMBL proteins: 
     ENSP00000260988  

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    Browse Proteins at Uscn

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005575cellular_component ND--
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm IEA--


    CRYGB for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for CRYGB gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CRYGB for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR001064 Beta/gamma_crystallin
     IPR011024 G_crystallin-rel

    Graphical View of Domain Structure for InterPro Entry P07316

    ProtoNet protein and cluster: P07316

    2 Blocks protein families:
    IPB001064 Beta and gamma crystallin
    IPB011024 Gamma-crystallin related


    UniProtKB/Swiss-Prot: CRGB_HUMAN, P07316
    Domain: Has a two-domain beta-structure, folded into four very similar Greek key motifs
    Similarity: Belongs to the beta/gamma-crystallin family
    Similarity: Contains 4 beta/gamma crystallin 'Greek key' domains


    Function
    for CRYGB gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: CRGB_HUMAN, P07316
    Function: Crystallins are the dominant structural components of the vertebrate eye lens

         Genatlas biochemistry entry for CRYGB:
    crystallin,gamma polypeptide B,9kDa

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    Search LifeMap BioReagents cell lines for CRYGB

    In Situ Assay
    Products:       
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005212structural constituent of eye lens NAS12507494


    CRYGB for ontologies           About GeneDecksing


    2 GenomeRNAi human phenotypes for CRYGB:
     Increased HPV18 LCR reporter a  Increased gamma-H2AX phosphory 

    Animal Models:
         1 MGI mutant phenotype (inferred from 3 alleles) (MGI details for Crygb):
     vision/eye 

    CRYGB for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CRYGB gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CRYGB

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001654eye development ----
    GO:0002088lens development in camera-type eye ----
    GO:0007601visual perception NAS12507494
    GO:0070307lens fiber cell development ----
    GO:0070309lens fiber cell morphogenesis IEA--


    CRYGB for ontologies           About GeneDecksing



    Drugs & Compounds
    for CRYGB gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CRYGB
    Search CenterWatch for drugs/clinical trials and news about CRYGB / CRGB 

    Transcripts
    for CRYGB gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for CRYGB gene: 
    NM_005210.3  

    Unigene Cluster for CRYGB:

    Crystallin, gamma B
    Hs.248102  [show with all ESTs]
    Unigene Representative Sequence: NM_005210
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000260988(uc002vcp.4)

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    Inhib. RNA
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    OriGene shRNA RFP: CRYGB
    OriGene siRNA: CRYGB
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    Clone
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    Primer
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    Additional cDNA sequence: 

    BC074944.2 BC074945.2 BC117384.1 BC117388.1 

    2 DOTS entries:

    DT.91741235  DT.97824327 

    8 AceView cDNA sequences:

    BF726411 BM666147 BC074945 BC074944 NM_005210 BM705957 BM711059 BM712241 

    GeneLoc Exon Structure


    Expression
    for CRYGB gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CRYGB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GATTTGTACT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CRYGB expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbForelimb MyotomeLimb Muscle Progenitor CellsSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CRYGB Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CRYGB

    SOURCE GeneReport for Unigene cluster: Hs.248102
        SABiosciences Custom PCR Arrays for CRYGB
    Primer
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    In Situ
    Assay Products:     
         		Search Advanced Cell Diagnostics for RNAscope RNA in situ hybridization assays for CRYGB

    Orthologs
    for CRYGB gene

    (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)
    About This Section
    This gene was present in the common ancestor of chordates.

    Orthologs for CRYGB gene from 2/9 species (see all 9)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    African clawed frog
    (Xenopus laevis)    		 Amphibia crygb-prov2 crystallin, gamma B 79.38(n)    BC053775.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii crygs31 crystallin, gamma S3 61.46(n)
    60.12(a)    		   550617  NM_001012390.1  NP_001012390.1 


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

    Paralogs
    for CRYGB gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CRYGB gene
    CRYBB32  CRYBA42  CRYBA12  CRYBB22  CRYGD2  CRYGA2  CRYBB12  CRYGC2  
    CRYGN2  CRYBA22  CRYGS2  
    15 SIMAP similar genes for CRYGB using alignment to 1 protein entry:     CRGB_HUMAN:
    CRYGC    CRYGD    CRYGA    CRYGS    DKFZp434A0627    CRYGN
    CRYBB3    CRYBA4    CRYBA1    CRYBB2    CRYBB1    AIM1
    AIM1L    DKFZp434L1713    CRYBA2

    CRYGB for paralogs           About GeneDecksing



    Genomic Variants
    for CRYGB gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/167 NCBI SNPs in CRYGB are shown (see all 167)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs22419801,2
    		C,H--200856081(+) TCATTC/GTGTAA 2 T R mis1 ese35Minor allele frequency- G:0.00NS EA NA 418
    rs782559001,2
    		--200856658(+) TGATCA/GAGGGC 1 -- int10--------
    rs101909991,2
    		C,F,A,H,--200857216(+) atggcG/Ctgatc 1 -- int14Minor allele frequency- C:0.33NA WA 12
    rs1137906831,2
    		C,F,--200857228(+) CGGCTC/G/TACCAC 1 -- int12NA CSA 3
    rs130191001,2
    		--200857540(+) ACACAC/TATATG 1 -- int10--------
    rs1123486731,2
    		--200857664(+) CCTCCC/TGAGTA 1 -- int11Minor allele frequency- T:0.00CSA 1
    rs8087881,2
    		H--200858860(+) aTATCA/TTGAAA 1 -- int14Minor allele frequency- T:0.00NS EA 416
    rs67508901,2
    		C,F,H,--200859431(+) CTGGGG/TTTGGC 1 -- us2k115Minor allele frequency- T:0.11NS EA NA WA 1892
    rs1999942411,2
    		C--200859656(+) TTTTTG/TTGTGT 1 -- us2k10--------
    rs118919751,2
    		H--200860183(+) GGGGGA/CTGGGT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for CRYGB (209007297 - 209010892 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for CRYGB: --
    Human Gene Mutation Database (HGMD): CRYGB

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    Disorders / Diseases
    for CRYGB gene

    (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.)
    About This Section
    CRYGB for disorders           About GeneDecksing

    OMIM gene information: 123670    OMIM disorders: --

    5 diseases for CRYGB:    About MalaCards
    cataract    cerulean cataract    congenital aphakia    congenital cataracts
    pseudohermaphroditism

    1 disease from the University of Copenhagen DISEASES database for CRYGB:
    Congenital aphakia

    1 Novoseek disease relationship for CRYGB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cataract 51.4 1 12162443 (1)

    Human Genome Epidemiology (HuGE) Navigator: CRYGB (2 documents)

    Export disorders for CRYGB gene to outside databases

    Publications
    for CRYGB gene

    (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)
    About This Section

    PubMed articles for CRYGB gene, integrated from 9 sources (see all 32):
    (articles sorted by number of sources associating them with CRYGB)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of possible sites for posttranslational modifications in human gamma crystallins: effect of glycation on the structure of human gamma-B-crystallin as analyzed by molecular modeling. (PubMed id 14517968)1, 2, 9 Salim A.... Zaidi Z.H. (2003)
    2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)1, 2 Hillier L.W....Wilson R.K. (2005)
    3. 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. (2004)
    4. Gamma-D crystallin gene (CRYGD) mutation causes autosomal dominant congenital cerulean cataracts. (PubMed id 12676897)1, 2 Nandrot E.... Hilal L. (2003)
    5. Homology models of human gamma-crystallins: structural study of the extensive charge network in gamma-crystallins. (PubMed id 12507494)1, 2 Salim A. and Zaidi Z.H. (2003)
    6. Novel mutations in the gamma-crystallin genes cause autosomal dominant congenital cataracts. (PubMed id 12011157)1, 2 Santhiya S.T.... Graw J. (2002)
    7. Nucleotide sequence of the rat gamma-crystallin gene region and comparison with an orthologous human region. (PubMed id 2777080)1, 2 den Dunnen J.T....Schoenmakers J.G.G. (1989)
    8. Two human gamma-crystallin genes are linked and riddled with Alu- repeats. (PubMed id 4065573)1, 2 den Dunnen J.T.... Schoenmakers J.G.G. (1985)
    9. Affilin-novel binding molecules based on human gamma-B-crystallin, an all beta-sheet protein. (PubMed id 17628592)2, 9 Ebersbach H....Fiedler U. (2007)
    10. Polymorphisms of the gamma crystallin A and B genes a mong Indian patients with pediatric cataract. (PubMed id 21941057)1 Mehra S....Vasavada A.R. (2011)

    External Searches for CRYGB gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
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    NCBI Bookshelf
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    Genome Databases showing CRYGB gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1419 HGNC: 2409 AceView: CRYGB Ensembl:ENSG00000182187 euGenes: HUgn1419
    ECgene: CRYGB H-InvDB: CRYGB

    Other Databases showing CRYGB gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CRYGB gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CRYGB Pharmacogenomics, SNPs, Pathways

    Intellectual Property
    for CRYGB gene

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

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



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    About This Section

     
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