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

CRYM Gene

protein-coding   GIFtS: 57
GCID: GC16M021269

Crystallin, Mu

  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, Mu1 2     DFNA402 5
Thiomorpholine-Carboxylate Dehydrogenase1 2     NADP-Regulated Thyroid-Hormone Binding Protein2
Mu-Crystallin Homolog2 3     EC 1.5.1.253
THBP2 3     NADP-Regulated Thyroid-Hormone-Binding Protein3
Ketimine Reductase2 3     

External Ids:    HGNC: 24181   Entrez Gene: 14282   Ensembl: ENSG000001033167   OMIM: 1237405   UniProtKB: Q148943   

Export aliases for CRYM gene to outside databases

Previous GC identifers: GC16M020678 GC16M021278 GC16M021236 GC16M021177 GC16M019805


(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 CRYM Gene:
Crystallins are separated into two classes: taxon-specific and ubiquitous. The former class is also called
phylogenetically-restricted crystallins. The latter class constitutes the major proteins of vertebrate eye lens
and maintains the transparency and refractive index of the lens. This gene encodes a taxon-specific crystallin
protein that binds NADPH and has sequence similarity to bacterial ornithine cyclodeaminases. The encoded protein
does not perform a structural role in lens tissue, and instead it binds thyroid hormone for possible regulatory
or developmental roles. Mutations in this gene have been associated with autosomal dominant non-syndromic
deafness. Multiple alternatively spliced transcript variants have been found for this gene. (provided by RefSeq,
Mar 2010)

GeneCards Summary for CRYM Gene: 
CRYM (crystallin, mu) is a protein-coding gene. Diseases associated with CRYM include familial juvenile hyperuricemic nephropathy, and brain cancer. GO annotations related to this gene include NADP binding and protein homodimerization activity.

UniProtKB/Swiss-Prot: CRYM_HUMAN, Q14894
Function: Specifically catalyzes the reduction of imine bonds in brain substrates that may include cystathionine
ketimine (CysK) and lanthionine ketimine (LK). Binds thyroid hormone which is a strong reversible inhibitor.
Presumably involved in the regulation of the free intracellular concentration of triiodothyronine and access to
its nuclear receptors

Gene Wiki entry for CRYM 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_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CRYM gene promoter:
         GATA-3   HNF-4alpha2   XBP-1   Nkx2-5   Ik-3   C/EBPalpha   GATA-1   GATA-2   AREB6   MRF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CRYM promoter sequence
   Search SABiosciences Chromatin IP Primers for CRYM

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


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

Entrez Gene cytogenetic band: 16p12.2   Ensembl cytogenetic band:  16p12.2   HGNC cytogenetic band: 16p12.2

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M021269:  view genomic region     (about GC identifiers)

Start:
21,250,195 bp from pter      End:
21,314,404 bp from pter
Size:
64,210 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: CRYM_HUMAN, Q14894 (See protein sequence)
Recommended Name: Thiomorpholine-carboxylate dehydrogenase  
Size: 314 amino acids; 33776 Da
Cofactor: NAD or NADP
Subunit: Homodimer
Subcellular location: Cytoplasm
1 PDB 3D structure from and Proteopedia for CRYM:
2I99 (3D)    
Secondary accessions: D5MNX0 Q5HYB7

Explore the universe of human proteins at neXtProt for CRYM: NX_Q14894

Explore proteomics data for CRYM at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q14894

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

    CRYM Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001014444.1  NP_001879.1  

    ENSEMBL proteins: 
     ENSP00000459982   ENSP00000460820   ENSP00000219599   ENSP00000460126   ENSP00000461904  
     ENSP00000460510   ENSP00000440227   ENSP00000379341   ENSP00000390928  

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    Novus Biologicals CRYM Proteins
    Novus Biologicals CRYM Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp. 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005739mitochondrion IEA--
    GO:0005886plasma membrane IDA--

    CRYM 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
    3 InterPro protein domains:
     IPR003462 ODC_Mu_crystall
     IPR023401 ODC_N
     IPR016040 NAD(P)-bd_dom

    Graphical View of Domain Structure for InterPro Entry Q14894

    ProtoNet protein and cluster: Q14894

    1 Blocks protein domain: IPB003462 Ornithine cyclodeaminase/mu-crystallin

    UniProtKB/Swiss-Prot: CRYM_HUMAN, Q14894
    Similarity: Belongs to the ornithine cyclodeaminase family


    CRYM 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: CRYM_HUMAN, Q14894
    Function: Specifically catalyzes the reduction of imine bonds in brain substrates that may include cystathionine
    ketimine (CysK) and lanthionine ketimine (LK). Binds thyroid hormone which is a strong reversible inhibitor.
    Presumably involved in the regulation of the free intracellular concentration of triiodothyronine and access to
    its nuclear receptors
    Catalytic activity: Thiomorpholine 3-carboxylate + NAD(P)(+) = 3,4-dehydro-thiomorpholine-3-carboxylate + NAD(P)H
    Biophysicochemical properties: pH dependence: Optimum pH is 4.5;

         Genatlas biochemistry entry for CRYM:
    crystallin,mu polypeptide

         Enzyme Number (IUBMB): EC 1.5.1.251

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003714transcription corepressor activity IMP11897713
    GO:0004616phosphogluconate dehydrogenase (decarboxylating) activity ----
    GO:0042562hormone binding ----
    GO:0042803protein homodimerization activity IDA12590647
    GO:0047127thiomorpholine-carboxylate dehydrogenase activity IEA--
         
    CRYM for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CRYM:
     Increased G1 DNA content  Synthetic lethal with Ras 

         5 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Crym):
     cardiovascular system  endocrine/exocrine gland  growth/size  hearing/vestibular/ear  homeostasis/metabolism 

    CRYM for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Crymtm1Sasu for CRYM

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CRYM 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CRYM

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CRYM 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CRYM 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CRYM
    1 QIAGEN miScript miRNA Assays for microRNA that regulate CRYM:
    hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidCRYM 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRYM


    (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



    Interactions:

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

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    4 Interacting proteins for CRYM (Q148942, 3 ENSP000002195994) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    C7orf25Q9BPX72, 3MINT-8249986 I2D: score=2 
    CDC37Q165432, 3MINT-8250833 I2D: score=2 
    DLG4P783523I2D: score=1 
    TERF1ENSP000002766034STRING: ENSP00000276603
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP11897713
    GO:0006098pentose-phosphate shunt ----
    GO:0007605sensory perception of sound IMP12471561
    GO:0042403thyroid hormone metabolic process IEA--
    GO:0055114oxidation-reduction process ----

    CRYM 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

    CRYM for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CRYM

    8 Novoseek inferred chemical compound relationships for CRYM gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tetrahydrobiopterin 71.4 31 20018174 (11), 15489553 (5), 9328354 (3), 12160330 (2) (see all 5)
    ornithine 68.3 8 15516582 (2), 15518536 (1), 17242435 (1), 17692531 (1) (see all 7)
    nadph 45.9 2 17242435 (1), 9285773 (1)
    triiodothyronine 34.6 1 17289043 (1)
    thyroxine 26.1 4 15489553 (2), 17289043 (1)
    alanine 21.7 3 15516582 (1), 17242435 (1), 18214971 (1)
    potassium 5.26 2 16740909 (1)
    atp 0 1 17233837 (1)

    Search CenterWatch for drugs/clinical trials and news about CRYM

    (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 CRYM gene (2 alternative transcripts): 
    NM_001014444.2  NM_001888.3  

    Unigene Cluster for CRYM:

    Crystallin, mu
    Hs.924  [show with all ESTs]
    Unigene Representative Sequence: BX648477
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000574448(uc010bwq.1) ENST00000570401 ENST00000219599(uc002dim.3 uc002dil.3)
    ENST00000572113 ENST00000576703 ENST00000571666 ENST00000572914 ENST00000571358
    ENST00000574787 ENST00000543948 ENST00000396023 ENST00000415987
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CRYM
    1 QIAGEN miScript miRNA Assays for microRNA that regulate CRYM:
    hsa-miR-205*
    SwitchGear 3'UTR luciferase reporter plasmidCRYM 3' UTR sequence
    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CRYM

    Additional mRNA sequence: 

    AK290852.1 AK310424.1 BC008398.1 BC018061.1 BX648477.1 L02950.1 U85772.1 

    8 DOTS entries:

    DT.113280  DT.95164008  DT.120657645  DT.87046931  DT.100781760  DT.120657639  DT.40126790  DT.95196460 

    24/90 AceView cDNA sequences (see all 90):

    AI859176 U85772 BQ639566 BV179762 AI659267 CA944935 T28859 CD513160 
    AA936267 NM_001888 L02950 AV703147 AA662278 CD107892 BI860684 BI914956 
    BQ639878 BM709216 BX452499 BI757722 BV168075 AI300616 BI755515 BC008398 

    GeneLoc Exon Structure

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

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8
    SP1:                                            -           -                 -         
    SP2:                    -                       -           -                           
    SP3:                                                                                    
    SP4:                                                                                    


    ECgene alternative splicing isoforms for CRYM

    (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

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


    CRYM expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/14 selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 22 entries
             Thalamus
             Septum   
     
     Neural Tube (Nervous System)    fully expand to see all 6 entries
             Mesencephalic Ventricular Zone
             spinal cord/lateral wall/ventricular layer   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 5 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Tooth (Integumentary System)    fully expand to see all 4 entries
             visceral organ/oral region/upper jaw   
     
     Spinal Cord (Nervous System)    fully expand to see all 3 entries
             Dorsal Horn   

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

    SOURCE GeneReport for Unigene cluster: Hs.924

    UniProtKB/Swiss-Prot: CRYM_HUMAN, Q14894
    Tissue specificity: Expressed in neural tissue, muscle and kidney

        SABiosciences Custom PCR Arrays for CRYM
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CRYM

    (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 eukaryotes.

    Orthologs for CRYM gene from 8/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Crym1 , 5 crystallin, mu1, 5 87.01(n)1
    88.82(a)1
      7 (64.47 cM)5
    129711  NM_016669.11  NP_057878.11 
     1201863805 
    chicken
    (Gallus gallus)
    Aves CRYM1 crystallin, mu 70.1(n)
    73.95(a)
      427008  XM_424610.3  XP_424610.2 
    lizard
    (Anolis carolinensis)
    Reptilia CRYM6
    Uncharacterized protein
    80(a)
    1 ↔ 1
    AAWZ02036656(10370-23594)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.246952 Xenopus laevis transcribed sequence with weak similarity more 73.62(n)    CB565151.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.224092 Transcribed sequence with moderate similarity to protein more 72.65(n)    BI886818.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG48721 CG4872 49.12(n)
    35.76(a)
      32676  NM_132945.2  NP_573173.2 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G528101 Rossmann-fold NAD(P)-binding domain-containing protein 44.96(n)
    32.89(a)
      835358  NM_124659.1  NP_200093.1 
    rice
    (Oryza sativa)
    Liliopsida Os10g05332001 hypothetical protein 49.43(n)
    38.44(a)
      4349222  NM_001071689.1  NP_001065154.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
      --

    (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

    10/930 SNPs in CRYM are shown (see all 930)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1048945091,2
    Cpathogenic121273255(-) AAATAA/TAACAA 4 * Y --0--------
    rs1048945121,2
    Cpathogenic121273259(-) TGGTAA/CATAAA 4 K T mis10--------
    rs793522481,2
    C,F--21272524(+) GAGCCG/ATGGCT 2 -- ds50011Minor allele frequency- A:0.04EA 120
    rs1890896111,2
    --21272532(+) GCTCAC/TGCCTG 2 -- ds50010--------
    rs1405701061,2
    C--21272688(+) CTACTC/TGTGAG 2 -- ds50010--------
    rs1817480141,2
    --21272693(+) CGTGAA/GGCTAA 2 -- ds50010--------
    rs58161511,2
    C--21272769(+) aaaaaA/-GAGAG 2 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs1867743521,2
    --21272975(+) TAATAC/GAAGTT 2 -- ds50010--------
    rs745953241,2
    C,F--21273142(+) CATGAT/CAAGCA 2 -- ut311Minor allele frequency- C:0.03WA 118
    rs1422177691,2
    --21273158(+) GGAGAA/GTTCAC 2 -- ut310--------

    HapMap Linkage Disequilibrium report for CRYM (21250195 - 21314404 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for CRYM:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2714068CNV Deletion23290073
    nsv436835CNV Insertion17901297
    nsv526247CNV Loss19592680
    esv34235CNV Gain17911159
    nsv905576CNV Gain21882294
    dgv830e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): CRYM

    Locus Specific Mutation Databases (LSDB): CRYM
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CRYM
    DNA2.0 Custom Variant and Variant Library Synthesis for CRYM

    (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: 123740    OMIM disorders: --

    17 diseases for CRYM:    About MalaCards
    familial juvenile hyperuricemic nephropathy    brain cancer    thyroiditis    facioscapulohumeral muscular dystrophy
    nonsyndromic deafness    hyperthyroidism    prostate cancer, progression of    retinitis pigmentosa
    hyperglycemia    muscular dystrophy    cataract    macular degeneration
    retinitis    prostate cancer    schizophrenia    prostatitis
    breast cancer

    2 diseases from the University of Copenhagen DISEASES database for CRYM:
    Facioscapulohumeral muscular dystrophy     Nonsyndromic deafness

    CRYM for disorders           About GeneDecksing

    2 Novoseek inferred disease relationships for CRYM gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 6 12160330 (1), 11888886 (1), 19353593 (1)
    cancer 0 2 19353593 (2)

    Human Genome Epidemiology (HuGE) Navigator: CRYM (1 document)

    Export disorders for CRYM 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 CRYM gene, integrated from 9 sources (see all 43):
    (articles sorted by number of sources associating them with CRYM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mammalian forebrain ketimine reductase identified as I1-crystallin; potential regulation by thyroid hormones. (PubMed id 21332720)1, 2, 3 Hallen A....Willows R.D. (2011)
    2. Two roles for mu-crystallin: a lens structural protein in diurnal marsupials and a possible enzyme in mammalian retinas. (PubMed id 9285773)1, 2, 9 Segovia L.... Wistow G. (1997)
    3. Crystal structure of human micro-crystallin complexed with NADPH. (PubMed id 17242435)1, 2, 9 Cheng Z.... Gong W. (2007)
    4. Mu-crystallin is a mammalian homologue of Agrobacterium ornithine cyclodeaminase and is expressed in human retina. (PubMed id 1384048)1, 2, 9 Kim R.Y.... Wistow G.J. (1992)
    5. Purification, molecular cloning, and functional expression of the human nicodinamide-adenine dinucleotide phosphate-regulated thyroid hormone-binding protein. (PubMed id 9328354)1, 2, 9 Vie M.-P.... Blondeau J.-P. (1997)
    6. Localization of the human gene for mu-crystallin to chromosome 16p. (PubMed id 1478656)1, 3, 9 Chen H....Antonarakis S.E. (1992)
    7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    8. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PubMed id 10493829)1, 2 Loftus B.J.... Adams M.D. (1999)
    9. Hyperglycemia induces elevated expression of thyroid hormone binding protein in vivo in kidney and heart and in vitro in mesangial c ells. (PubMed id 20018174)1, 9 Al-Kafaji G. and Malik A.N. (2010)
    10. Identification of mu-crystallin as an androgen-regula ted gene in human prostate cancer. (PubMed id 19353593)1, 9 Malinowska K....Culig Z. (2009)

    (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: 1428 HGNC: 2418 AceView: CRYM Ensembl:ENSG00000103316 euGenes: HUgn1428
    ECgene: CRYM H-InvDB: CRYM

    (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 CRYM Pharmacogenomics, SNPs, Pathways

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

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



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