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CRYAB Gene

protein-coding   GIFtS: 70
GCID: GC11M111813

Crystallin, Alpha B


(Previous symbol: CRYA2)
  See CRYAB-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, Alpha B1 2     MFM22 5
CRYA21 2 3 5     HEL-S-1012
Heat Shock Protein Beta-52 3     HSPB52
Renal Carcinoma Antigen NY-REN-272 3     Alpha-Crystallin B Chain2
Rosenthal Fiber Component2 3     Epididymis Secretory Protein Li 1012
CMD1II2 5     Heat-Shock 20 KD Like-Protein2
CTPP22 5     Alpha(B)-crystallin3
CTRCT162 5     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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CRYAB Gene:
Mammalian lens crystallins are divided into alpha, beta, and gamma families. 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 (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. The encoded protein has been identified as a moonlighting protein based on its ability to perform
mechanistically distinct functions. 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. Alternative splicing results in multiple transcript variants. (provided by
RefSeq, Jan 2014)

GeneCards Summary for CRYAB Gene:
CRYAB (crystallin, alpha B) is a protein-coding gene. Diseases associated with CRYAB include cardiomyopathy, dilated, 1ii, and intracranial cysts. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000011.9  NC_018922.2  NT_033899.9  
Regulatory elements:
   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 Chromatin IP Primers for CRYAB

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

  • Glycosylation2 at Thr170
  • Modification sites at PhosphoSitePlus

  • See CRYAB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001276736.1  NP_001276737.1  NP_001876.1  

    ENSEMBL proteins: 
     ENSP00000436051   ENSP00000432454   ENSP00000435046   ENSP00000435411   ENSP00000433560  
     ENSP00000437149   ENSP00000227251   ENSP00000434247   ENSP00000435960   ENSP00000436089  
     ENSP00000434793   ENSP00000431754   ENSP00000434269   ENSP00000432182   ENSP00000435931  

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    antibodies-online proteins for CRYAB (37 products) 

     
    antibodies-online peptides for CRYAB

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    antibodies-online antibodies for CRYAB (286 products) 

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    antibodies-online kits for CRYAB (42 products) 


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


    Find genes that share domains with CRYAB           About GenesLikeMe


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

         UniProtKB/Swiss-Prot Summary: 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): Selected molecular function terms (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
         
    Find genes that share ontologies with CRYAB           About GenesLikeMe


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

    Find genes that share phenotypes with CRYAB           About GenesLikeMe

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

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

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    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CRYAB_HUMAN, P02511: Cytoplasm. Nucleus. Note=Translocates to the nucleus during heat shock and resides in
    sub-nuclear structures known as SC35 speckles or nuclear splicing speckles
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    cytosol4
    plasma membrane4
    cytoskeleton3
    golgi apparatus2
    mitochondrion2
    extracellular1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 13):    About this table

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

    Find genes that share ontologies with CRYAB           About GenesLikeMe


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

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


    Find genes that share SuperPaths with CRYAB           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




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

        Pathway & Disease-focused RT2 Profiler 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

    Interactions:

        GeneGlobe Interaction Network for CRYAB

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

    Selected Interacting proteins for CRYAB (P025111, 2, 3 ENSP000002272514) via UniProtKB, MINT, STRING, and/or I2D (see all 72)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRYAAP024891, 2, 3, ENSP000002915544EBI-739060,EBI-6875961 MINT-17438 MINT-17439 MINT-8286941 MINT-17437 MINT-8408080 I2D: score=4 STRING: ENSP00000291554
    CRYGCP073151, 2, 3, ENSP000002821414EBI-739060,EBI-6875941 MINT-14213 MINT-14211 MINT-14212 I2D: score=3 STRING: ENSP00000282141
    HSPB1P047921, 2, 3, ENSP000002485534EBI-739060,EBI-352682 MINT-8408096 MINT-17168 I2D: score=4 STRING: ENSP00000248553
    CRYBA1P058131, 2, 3, ENSP000002253874EBI-739060,EBI-7043337 MINT-3388193 MINT-3388174 I2D: score=1 STRING: ENSP00000225387
    CRYBB2P433202, 3MINT-17764 MINT-17762 MINT-17763 I2D: score=4 
    About this table

    Gene Ontology (GO): Selected biological process terms (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

    Find genes that share ontologies with CRYAB           About GenesLikeMe



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

    Browse Tocris compounds for CRYAB

    Selected 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)



    Find genes that share compounds with CRYAB           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CRYAB gene (3 alternative transcripts): 
    NM_001289807.1  NM_001289808.1  NM_001885.2  

    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
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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 

    Selected AceView cDNA sequences (see all 64):

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

    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™, 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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    CRYAB expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 28) fully expand
     
     Bone (Muscoskeletal System)    fully expand to see all 13 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Cartilage (Muscoskeletal System)    fully expand to see all 11 entries
             HyStem+TGFbeta3+GDF5-induced MEL2 cells
     
     Eye (Sensory Organs)    fully expand to see all 7 entries
             Secondary Lens Fiber Cells Lens
             Retina
     
     Brain (Nervous System)    fully expand to see all 6 entries
             Hippocampus
             Oligodendrocyte-like cells
     
     Epithelial Cells
             Duct Cells Pancreatic Ducts
    CRYAB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CRYAB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.53454

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

        Pathway & Disease-focused RT2 Profiler 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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    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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    This gene was present in the common ancestor of animals.

    Orthologs for CRYAB gene from Selected 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
    crystallin, alpha B
    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 cryabb1 crystallin, alpha B, b 65.85(n)
    63.19(a)
      436943  NM_001002670.2  NP_001002670.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta l(2)efl1 lethal (2) essential for life 55.63(n)
    47.02(a)
      37744  NM_079103.3  NP_523827.1 


    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)
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    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

    Find genes that share paralogs with CRYAB           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CRYAB (see all 147)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0700354
    Cardiomyopathy, dilated 1II (CMD1II)4--see VAR_0700352 G S mis40--------
    rs289294891,2,4
    Myopathy, myofibrillar, 2 (MFM2)4--see VAR_0078992 mis40--------
    VAR_0695284
    Myopathy, myofibrillar, 2 (MFM2)4--see VAR_0695282 D H mis40--------
    VAR_0700364
    Cardiomyopathy, dilated 1II (CMD1II)4--see VAR_0700362 R 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--------

    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

    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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 123590   
    OMIM disorders: 608810  613763  613869  615184  
    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 16, multiple types (CTRCT16) [MIM:613763]: An opacification of the crystalline lens of the eye
    that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a
    portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an
    opacity, the greater the impact on visual function. CTRCT16 includes posterior polar cataract, among others.
    Posterior polar cataract is a subcapsular opacity, usually disk-shaped, located at the back of the lens. 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
  • Cardiomyopathy, dilated 1II (CMD1II) [MIM:615184]: A disorder characterized by ventricular dilation and
    impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of
    premature death. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 19 diseases for CRYAB:    
    About MalaCards
    cardiomyopathy, dilated, 1ii    intracranial cysts    posterior polar cataract    posterior polar cataract 2
    cataract 16, multiple types    myopathy, myofibrillar, 2    myopathy, myofibrillar, fatal infantile hypertrophy, alpha-b crystallin-related    alpha-b crystallinopathy
    alexander disease    cataract 23    pandas    cataract 6, multiple types
    multiple system atrophy    cardiomyopathy, dilated, 1w    hereditary coproporphyria    acute intermittent porphyria
    variegate porphyria    myopathy    amyotrophic lateral sclerosis

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

    Find genes that share disorders with CRYAB           About GenesLikeMe

    Selected 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)
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    PubMed articles for CRYAB gene, integrated from 10 sources (see all 430):
    (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. (Biochim. Biophys. Acta 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. (J. Biol. Chem. 1992)
    3. CRYAB promoter polymorphisms: influence on multiple sclerosis susceptibility and clinical presentation. (PubMed id 17010329)1, 4, 9 Stoevring B....Christiansen M. ( international journal of clinical chemistry 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. (Am. J. Hum. Genet. 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. (Neurosci. Lett. 1992)
    6. Genetic variation in healthy oldest-old. (PubMed id 19680556)1, 4, 9 Halaschek-Wiener J....Brooks-Wilson A.R. (PLoS ONE 2009)
    7. Alpha B-crystallin mutation in dilated cardiomyopathy. (PubMed id 16483541)1, 2, 9 Inagaki N....Kimura A. (Biochem. Biophys. Res. Commun. 2006)
    8. Alteration of protein-protein interactions of congenital cataract crystallin mutants. (PubMed id 12601044)1, 2, 9 Fu L. and Liang J.J.-N. (Invest. Ophthalmol. Vis. Sci. 2003)
    9. Myofibrillar myopathy caused by novel dominant negative alpha B- crystallin mutations. (PubMed id 14681890)1, 2, 9 Selcen D. and Engel A.G. (Ann. Neurol. 2003)
    10. A novel CRYAB mutation resulting in multisystemic disease. (PubMed id 21920752)1, 2 Sacconi S.... Urtizberea A. (Neuromuscul. Disord. 2012)

    (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: 1410 HGNC: 2389 AceView: CRYAB Ensembl:ENSG00000109846 euGenes: HUgn1410
    ECgene: CRYAB Kegg: 1410 H-InvDB: CRYAB

    (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 CRYAB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for CRYAB Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CRYAB[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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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