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

CRYAB Gene

protein-coding   GIFtS: 70
GCID: GC11M111813

Crystallin, Alpha B


(Previous symbol: CRYA2)
Microbiology & Infectious Diseases Congress
  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)
About This Section

Aliases
Crystallin, Alpha B1 2     CTRCT162
CRYA21 2 3 5     HSPB52
Heat Shock Protein Beta-52 3     MFM22
Renal Carcinoma Antigen NY-REN-272 3     Alpha-Crystallin B Chain2
Rosenthal Fiber Component2 3     Heat-Shock 20 KD Like-Protein2
CTPP22 5     Alpha(B)-crystallin3
CMD1II2     HspB53

External Ids:    HGNC: 23891   Entrez Gene: 14102   Ensembl: ENSG000001098467   OMIM: 1235905   UniProtKB: P025113   

Export aliases for CRYAB gene to outside databases

Previous GC identifers: GC11M114132 GC11M113291 GC11M111316 GC11M111284 GC11M107703


(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 CRYAB Gene:
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. Alpha crystallins are composed of two
gene products: alpha-A and alpha-B, for acidic and basic, respectively. Alpha crystallins can be induced by heat
shock and are members of the small heat shock protein (sHSP also known as the HSP20) family. They act as
molecular chaperones although they do not renature proteins and release them in the fashion of a true chaperone;
instead they hold them in large soluble aggregates. Post-translational modifications decrease the ability to
chaperone. These heterogeneous aggregates consist of 30-40 subunits; the alpha-A and alpha-B subunits have a 3:1
ratio, respectively. Two additional functions of alpha crystallins are an autokinase activity and participation
in the intracellular architecture. Alpha-A and alpha-B gene products are differentially expressed; alpha-A is
preferentially restricted to the lens and alpha-B is expressed widely in many tissues and organs. Elevated
expression of alpha-B crystallin occurs in many neurological diseases; a missense mutation cosegregated in a
family with a desmin-related myopathy. (provided by RefSeq, Jul 2008)

GeneCards Summary for CRYAB Gene: 
CRYAB (crystallin, alpha B) is a protein-coding gene. Diseases associated with CRYAB include intracranial cysts, and posterior polar cataract 2. GO annotations related to this gene include microtubule binding and protein homodimerization activity. An important paralog of this gene is HSPB1.

UniProtKB/Swiss-Prot: CRYAB_HUMAN, P02511
Function: May contribute to the transparency and refractive index of the lens. Has chaperone-like activity,
preventing aggregation of various proteins under a wide range of stress conditions

Gene Wiki entry for CRYAB 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_033899.8  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CRYAB gene promoter:
         Max1   Sp1   NF-kappaB   NF-kappaB1   c-Myc   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCRYAB promoter sequence
   Search SABiosciences Chromatin IP Primers for CRYAB

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


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

Entrez Gene cytogenetic band: 11q22.3-q23.1   Ensembl cytogenetic band:  11q23.1   HGNC cytogenetic band: 11q22.3-q23.1

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

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11M111813:  view genomic region     (about GC identifiers)

Start:
111,779,289 bp from pter      End:
111,794,446 bp from pter
Size:
15,158 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CRYAB_HUMAN, P02511 (See protein sequence)
Recommended Name: Alpha-crystallin B chain  
Size: 175 amino acids; 20159 Da
Subunit: Heteropolymer composed of three CRYAA and one CRYAB subunits. Aggregates with homologous proteins,
including the small heat shock protein HSPB1, to form large heteromeric complexes. Inter-subunit bridging via
zinc ions enhances stability, which is crucial as there is no protein turn over in the lens. Interacts with
HSPBAP1 and TTN/titin
Subcellular location: Cytoplasm. Nucleus. Note=Translocates to the nucleus during heat shock and resides in
sub-nuclear structures known as SC35 speckles or nuclear splicing speckles
Mass spectrometry: Mass=20201; Method=Electrospray; Range=1-175; Source=PubMed:8175657;
Mass spectrometry: Mass=20281; Method=Electrospray; Range=1-175; Note=With 1 phosphate group;
Source=PubMed:8175657;
Mass spectrometry: Mass=20360; Method=Electrospray; Range=1-175; Note=With 2 phosphate groups;
Source=PubMed:8175657;
Mass spectrometry: Mass=20199; Method=Electrospray; Range=1-175; Source=PubMed:10930324;
Mass spectrometry: Mass=20278; Method=Electrospray; Range=1-175; Note=With 1 phosphate group;
Source=PubMed:10930324;
6/13 PDB 3D structures from and Proteopedia for CRYAB (see all 13):
2KLR (3D)        2WJ7 (3D)        2Y1Y (3D)        2Y1Z (3D)        2Y22 (3D)        2YGD (3D)    
Secondary accessions: B0YIX0 O43416 Q9UC37 Q9UC38 Q9UC39 Q9UC40 Q9UC41

Explore the universe of human proteins at neXtProt for CRYAB: NX_P02511

Explore proteomics data for CRYAB at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P02511

  • CRYAB Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CRYAB Protein Expression
    REFSEQ proteins: NP_001876.1  
    ENSEMBL proteins: 
     ENSP00000436051   ENSP00000432454   ENSP00000435046   ENSP00000435411   ENSP00000433560  
     ENSP00000437149   ENSP00000227251   ENSP00000434247   ENSP00000435960   ENSP00000436089  
     ENSP00000434793   ENSP00000431754   ENSP00000434269   ENSP00000432182   ENSP00000435931  

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    Browse Proteins at Cloud-Clone Corp. 

    Gene Ontology (GO): 5/12 cellular component terms (GO ID links to tree view) (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA19464326
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IEA--
    GO:0005794Golgi apparatus IEA--
    GO:0005829cytosol IEA--

    CRYAB for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    HSPB: Heat shock proteins / HSPB

    5 InterPro protein domains:
     IPR002068 a-crystallin/Hsp20_dom
     IPR012273 Alpha-crystallin_B
     IPR008978 HSP20-like_chaperone
     IPR001436 Alpha-crystallin/HSP
     IPR003090 Alpha-crystallin_N

    Graphical View of Domain Structure for InterPro Entry P02511

    ProtoNet protein and cluster: P02511

    2 Blocks protein domains:
    IPB001436 Alpha crystallin signature
    IPB002068 Heat shock protein Hsp20


    UniProtKB/Swiss-Prot: CRYAB_HUMAN, P02511
    Similarity: Belongs to the small heat shock protein (HSP20) family


    CRYAB 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CRYAB_HUMAN, P02511
    Function: May contribute to the transparency and refractive index of the lens. Has chaperone-like activity,
    preventing aggregation of various proteins under a wide range of stress conditions

         Genatlas biochemistry entry for CRYAB:
    crystallin,alpha polypeptide 2 (alphaB),selectively expressed in slow-twitch oxidative muscle fibers,with
    chaperone-like activity and maintenance of cytoskeletal network in muscle,involved in desmin related myopathy and
    in cataract,alpha crystallin/small hsp family

         Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005212structural constituent of eye lens IEA--
    GO:0005515protein binding IPI11700327
    GO:0008017microtubule binding IEA--
    GO:0008092cytoskeletal protein binding ----
    GO:0042802identical protein binding IPI12601044
         
    CRYAB for ontologies           About GeneDecksing


    Phenotypes:
         11 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cryab):
     adipose tissue  behavior/neurological  craniofacial  digestive/alimentary  growth/size 
     immune system  mortality/aging  muscle  nervous system  skeleton 
     vision/eye 

    CRYAB for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cryab/Hspb2Cryab/tm1Wawr for CRYAB

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CRYAB 
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    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CRYAB About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Protein processing in endoplasmic reticulum
    Protein processing in endoplasmic reticulum

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    1         Kegg Pathway  (Kegg details for CRYAB):
        Protein processing in endoplasmic reticulum


    CRYAB for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CRYAB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 24)

    5/41 Interacting proteins for CRYAB (P025111, 2, 3 ENSP000002272514) via UniProtKB, MINT, STRING, and/or I2D (see all 41)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRYAAP024892, 3, ENSP000002915544MINT-17438 MINT-17439 MINT-8286941 MINT-17437 MINT-8408080 I2D: score=4 STRING: ENSP00000291554
    CRYGCP073152, 3, ENSP000002821414MINT-14213 MINT-14211 MINT-14212 I2D: score=3 STRING: ENSP00000282141
    CRYBB2P433202, 3MINT-17764 MINT-17762 MINT-17763 I2D: score=4 
    HSPB1P047922, 3, ENSP000002485534MINT-8408096 MINT-17168 I2D: score=4 STRING: ENSP00000248553
    CRYBA1P058132, 3, ENSP000002253874MINT-3388193 MINT-3388174 I2D: score=1 STRING: ENSP00000225387
    About this table

    Gene Ontology (GO): 5/23 biological process terms (GO ID links to tree view) (see all 23):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001666response to hypoxia IEA--
    GO:0002088lens development in camera-type eye IEA--
    GO:0006006glucose metabolic process IEA--
    GO:0006457protein folding IEA--
    GO:0006936muscle contraction TAS9731540

    CRYAB for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CRYAB for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for CRYAB

    10/24 Novoseek inferred chemical compound relationships for CRYAB gene (see all 24)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    succinimide 48.8 1 8142454 (1)
    methionine sulfoxide 47.4 3 9679446 (1), 9068373 (1)
    sodium arsenite 27.9 1 2023914 (1)
    chloramphenicol 18.2 3 8524275 (1), 1911643 (1)
    manganese superoxide 13.7 3 14961354 (1), 16750834 (1)
    sucrose 10.6 2 8435441 (1), 9431459 (1)
    glucose 3.01 3 7912928 (2), 11162507 (1)
    methionine 2.96 1 9514893 (1)
    glutamine 0.628 2 12748948 (1), 9273821 (1)
    ccl4 0.122 1 11830331 (1)

    Search CenterWatch for drugs/clinical trials and news about CRYAB

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CRYAB gene: 
    NM_001885.1  

    Unigene Cluster for CRYAB:

    Crystallin, alpha B
    Hs.53454  [show with all ESTs]
    Unigene Representative Sequence: BM544422
    15 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000526180 ENST00000524660 ENST00000533280 ENST00000525823 ENST00000533475
    ENST00000527950(uc001pmf.1) ENST00000227251 ENST00000531198 ENST00000528961
    ENST00000527899 ENST00000526167 ENST00000529647 ENST00000533971(uc010rwp.1)
    ENST00000528628 ENST00000533879
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

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    Additional mRNA sequence: 

    AF007162.1 AK295498.1 AK314029.1 BC007008.1 BT006770.1 FJ876064.1 M24906.1 S45630.1 

    22 DOTS entries:

    DT.92463634  DT.100814456  DT.97801394  DT.100814470  DT.40106207  DT.100814472  DT.92463643  DT.95273593 
    DT.100814457  DT.102843298  DT.120750595  DT.102843295  DT.120750585  DT.120750612  DT.120750625  DT.120750670 
    DT.75200098  DT.97852365  DT.100814465  DT.120750605  DT.95159595  DT.95273596 

    24/64 AceView cDNA sequences (see all 64):

    BM697134 BM662975 BM705928 BM668179 BM696974 BM697330 CA398107 BM696956 
    BF726161 BM686132 H27592 N70178 AA470069 BM702557 AA196357 N98374 
    T51913 W46521 BE672641 BU735552 BM697401 H23749 AA099868 BM705974 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CRYAB    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c
    SP1:        -           -                                 
    SP2:                    -                                 
    SP3:                                                      
    SP4:                                                      


    ECgene alternative splicing isoforms for CRYAB

    (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

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


    CRYAB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/19 selected tissues (see all 19) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 14 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
             Human Mesenchymal Stem Cell-bone marrow (HMSC-Bone Marrow)   
     
     Cartilage (Muscoskeletal System)    fully expand to see all 11 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Cerebellum
             Human Astrocytes   
             Trigeminal Ganglion   
     
     Eye (Sensory Organs)    fully expand to see all 4 entries
             Glycinergic Amacrine Cells Inner Nuclear Layer
             Retina
             Human Retinal Pigment Epithelial Cells (HRPEpiC)   
     
     Adipose (Muscoskeletal System)    fully expand to see all 3 entries
             HyStem+BMP4-induced E15 cells

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

    SOURCE GeneReport for Unigene cluster: Hs.53454

    UniProtKB/Swiss-Prot: CRYAB_HUMAN, P02511
    Tissue specificity: Lens as well as other tissues

        SABiosciences Expression via Pathway-Focused PCR Arrays including CRYAB (see all 7): 
              TGFB Signaling Targets in human mouse rat
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat
              Apoptosis 384HT in human mouse rat
              Cellular Stress Responses in human mouse rat
              Osmotic Stress in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CRYAB gene from 7/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cryab1 , 5 crystallin, alpha B1, 5 91.24(n)1
    97.71(a)1
      9 (27.75 cM)5
    129551  NM_009964.21  NP_034094.11 
     507527585 
    chicken
    (Gallus gallus)
    Aves CRYAB1 crystallin, alpha B 74.14(n)
    77.01(a)
      396089  NM_205176.1  NP_990507.1 
    lizard
    (Anolis carolinensis)
    Reptilia CRYAB6
    Uncharacterized protein
    81(a)
    1 ↔ 1
    GL343521.1(32522-33000)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.75732 Xenopus laevis transcribed sequence with strong similarity to protein spP02511 (H.sapiens) CRAB_HUMAN Alpha crystallin B chain (Alpha(B)-crystallin) (Rosenthal fiber component) less 91.26(n)    AW645701.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cryaba1 crystallin, alpha B, a 65.04(n)
    63.41(a)
      30393  NM_131157.1  NP_571232.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta l(2)efl1 lethal (2) essential for life 56.55(n)
    48.28(a)
      37744  NM_079103.2  NP_523827.1 
    worm
    (Caenorhabditis elegans)
    Secernentea hsp-176
    hsp-16.416
    (see all 13)
    Heat shock protein Hsp-16.41
    (see all 13)
    30(a)
    25(a)
    (see all 13)
    many ↔ many
    many ↔ many
    (see all 13)
    V(8384774-8385927)
    V(1805233-1805875)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CRYAB gene
    HSPB12  CRYAA2  HSPB22  HSPB82  HSPB2-C11orf522  HSPB62  HSPB32  
    6 SIMAP similar genes for CRYAB using alignment to 9 protein entries:     CRYAB_HUMAN (see all proteins):
    CRYAA    HSPB2    HSPB6    HSPB3    HSPB1    HSPB8

    CRYAB for paralogs           About GeneDecksing



    (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) 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

    10/145 SNPs in CRYAB are shown (see all 145)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0078994
    Myopathy, myofibrillar, 2 (MFM2)4--see VAR_0078992 R G mis40--------
    VAR_0695284
    Myopathy, myofibrillar, 2 (MFM2)4--see VAR_0695282 D H mis40--------
    rs1048942021,2
    Cpathogenic1111642999(-) GGAAAC/TAGGTC 2 Q * stg10--------
    rs1048942011,2
    Cpathogenic1111643092(-) TCCACA/GGGAAA 2 R G mis10--------
    rs1118939891,2
    C,F--111642319(+) AAGGCA/CATGCT 1 -- ds50012Minor allele frequency- C:0.04CSA WA 120
    rs1848679581,2
    --111642394(+) TTAGAC/GATGCA 1 -- ds50010--------
    rs1892757881,2
    C--111642413(+) TTTTAC/TGTAGC 1 -- ds50010--------
    rs1808904181,2
    --111642666(+) TCAGTA/CATTCT 1 -- ds50010--------
    rs1480520261,2
    --111642768(+) TCAAAC/TACAAG 1 -- ds50010--------
    rs1122046771,2
    C--111642786(+) TCTGTA/C/TGCTGA 2 -- ut311CSA 1

    HapMap Linkage Disequilibrium report for CRYAB (111779289 - 111794446 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for CRYAB:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv482162CNV Loss20164927


    Human Gene Mutation Database (HGMD): CRYAB

    Locus Specific Mutation Databases (LSDB): CRYAB
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 123590   
    OMIM disorders: 608810  
    UniProtKB/Swiss-Prot: CRYAB_HUMAN, P02511
  • Myopathy, myofibrillar, 2 (MFM2) [MIM:608810]: A neuromuscular disorder that results in weakness of the
    proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, hypertrophic
    cardiomyopathy, and cataract in a subset of patients. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Cataract, posterior polar, 2 (CTPP2) [MIM:613763]: A subcapsular opacity, usually disk-shaped, located at
    the back of the lens. It can have a marked effect on visual acuity. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related (MFMFIH-CRYAB)
    [MIM:613869]: A muscular dystrophy with onset in the first weeks of life after a normal neonatal period. Affected
    infants show rapidly progressive muscular rigidity of the trunk and limbs associated with increasing respiratory
    difficulty resulting in death before age 3 years. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 20/63 diseases for CRYAB (see all 63):    About MalaCards
    intracranial cysts    posterior polar cataract 2    alpha-b crystallinopathy    fatal infantile hypertonic myofibrillar myopathy
    myopathy, cardioskeletal, desmin-related, with cataract    alexander disease    neurologic diseases    multiple system atrophy
    posterior polar cataract    ossification of the posterior longitudinal ligament of the spine    myofibrillar myopathy    frontotemporal dementia
    myopathy    neuromuscular disease    guillain-barre syndrome    pandas
    pick's disease    leukodystrophy    nervous system disease    oligodendroglioma

    3 diseases from the University of Copenhagen DISEASES database for CRYAB:
    Alexander disease     Myopathy     Multiple sclerosis

    CRYAB for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/55 Novoseek inferred disease relationships for CRYAB gene (see all 55)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    alexanders disease 85.2 18 1407707 (3), 8393618 (2), 1743282 (2), 1656764 (2) (see all 10)
    desmin-related myopathy 79.7 5 11412718 (1), 15572040 (1), 12861387 (1), 16483541 (1)
    shock 72.1 89 8743950 (4), 8435441 (3), 12646227 (3), 7896758 (2) (see all 49)
    congenital cataract 68.8 6 16877416 (2), 9124809 (1), 12601044 (1), 20171888 (1) (see all 5)
    myopathy 60.1 7 19181099 (1), 19050726 (1), 17888590 (1), 14681890 (1) (see all 6)
    cataract 53.3 16 16877416 (3), 19461931 (2), 11577372 (2), 9650087 (1) (see all 10)
    neuroectodermal tumors 53 5 1655207 (2), 9142199 (1)
    picks disease 50.6 5 1382240 (3), 18091558 (1), 7575218 (1)
    astrocytoma subependymal giant cell 50.2 1 8162151 (1)
    gliosis 49.4 6 8171966 (2), 10439447 (2), 18091558 (1), 16750834 (1)

    GeneTests: CRYAB
    GeneReviews: CRYAB
    Genetic Association Database (GAD): CRYAB
    Human Genome Epidemiology (HuGE) Navigator: CRYAB (6 documents)

    Export disorders for CRYAB 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)
    About This Section

    PubMed articles for CRYAB gene, integrated from 9 sources (see all 424):
    (articles sorted by number of sources associating them with CRYAB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Simultaneous racemization and isomerization at specific aspartic acid residues in alpha B-crystallin from the aged human lens. (PubMed id 8142454)1, 2, 9 Fujii N.... Harada K. (1994)
    2. Copurification of small heat shock protein with alpha B crystallin from human skeletal muscle. (PubMed id 1560006)1, 2, 9 Kato K.... Asano T. (1992)
    3. CRYAB promoter polymorphisms: influence on multiple sclerosis susceptibility and clinical presentation. (PubMed id 17010329)1, 4, 9 Stoevring B....Christiansen M. (2007)
    4. Alpha-B crystallin gene (CRYAB) mutation causes dominant congenital posterior polar cataract in humans. (PubMed id 11577372)1, 2, 9 Berry V....Quinlan R.A. (2001)
    5. Accumulation of alpha B-crystallin in brains of patients with Alexander's disease is not due to an abnormality of the 5'-flanking and coding sequence of the genomic DNA. (PubMed id 1407707)1, 2, 9 Iwaki A.... Sakaki Y. (1992)
    6. Genetic variation in healthy oldest-old. (PubMed id 19680556)1, 4, 9 Halaschek-Wiener J....Brooks-Wilson A.R. (2009)
    7. Alteration of protein-protein interactions of congenital cataract crystallin mutants. (PubMed id 12601044)1, 2, 9 Fu L. and Liang J.J.-N. (2003)
    8. Myofibrillar myopathy caused by novel dominant negative alpha B- crystallin mutations. (PubMed id 14681890)1, 2, 9 Selcen D. and Engel A.G. (2003)
    9. A novel CRYAB mutation resulting in multisystemic dise ase. (PubMed id 21920752)1, 2 Sacconi S....Urtizberea A. (2012)
    10. Analysis of multiple candidate genes in association w ith phenotypes of multiple sclerosis. (PubMed id 20378664)1, 4 Sombekke M.H....Uitdehaag B.M. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 1410 HGNC: 2389 AceView: CRYAB Ensembl:ENSG00000109846 euGenes: HUgn1410
    ECgene: CRYAB Kegg: 1410 H-InvDB: CRYAB

    (According to HUGE)
    About This Section
      --

    (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 CRYAB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CRYAB Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CRYAB

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

    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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