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

DYM Gene

protein-coding   GIFtS: 52
GCID: GC18M046570

Dymeclin

  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
dymeclin1 2
Dyggve-Melchior-Clausen Syndrome Protein2 3
DMC2 5
SMC2 5
FLJ901305

External Ids:    HGNC: 213171   Entrez Gene: 548082   Ensembl: ENSG000001416277   OMIM: 6074615   UniProtKB: Q7RTS93   

Export aliases for DYM gene to outside databases

Previous GC identifers: GC18M044825 GC18M043422


(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 DYM Gene:
This gene encodes a protein which is necessary for normal skeletal development and brain function. Mutations in
this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC)
dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation. (provided
by RefSeq, Jul 2008)

GeneCards Summary for DYM Gene: 
DYM (dymeclin) is a protein-coding gene. Diseases associated with DYM include dyggve-melchior-clausen syndrome, and smith mccort dysplasia. GO annotations related to this gene include protein binding and enzyme binding.

UniProtKB/Swiss-Prot: DYM_HUMAN, Q7RTS9
Function: Necessary for correct organization of Golgi apparatus. Involved in bone development

Gene Wiki entry for DYM 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_000018.9  NT_010966.14  NC_018929.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the DYM gene promoter:
         GR   SRF   SRF (504 AA)   CREB   AREB6   FAC1   deltaCREB   GR-alpha   ATF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidDYM promoter sequence
   Search SABiosciences Chromatin IP Primers for DYM

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


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

Entrez Gene cytogenetic band: 18q21.1   Ensembl cytogenetic band:  18q21.1   HGNC cytogenetic band: 18q21.1

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

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M046570:  view genomic region     (about GC identifiers)

Start:
46,570,039 bp from pter      End:
46,987,717 bp from pter
Size:
417,679 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: DYM_HUMAN, Q7RTS9 (See protein sequence)
Recommended Name: Dymeclin  
Size: 669 amino acids; 75935 Da
Subunit: Interacts with GOLM1 and PPIB
Subcellular location: Cytoplasm. Golgi apparatus. Note=Sequence analysis programs clearly predict 1 transmembrane
region. However, PubMed:18996921 shows that it is not a stably anchored transmembrane protein but it weakly
associates with the Golgi apparatus and shuttles between the Golgi and the cytosol
Secondary accessions: A8K5I8 B2RCF9 B4DKI7 Q3ZTS8 Q6P2P5 Q8N2M0 Q9BVE9 Q9NPU7
Alternative splicing: 2 isoforms:  Q7RTS9-1   Q7RTS9-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for DYM: NX_Q7RTS9

Explore proteomics data for DYM at MOPED 

Post-translational modifications:

  • UniProtKB: Myristoylated in vitro; myristoylation is not essential for protein targeting to Golgi compartment
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q7RTS9

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

    DYM Protein Expression
    REFSEQ proteins: NP_060123.3  
    ENSEMBL proteins: 
     ENSP00000395942   ENSP00000464163   ENSP00000269445   ENSP00000462657   ENSP00000461989  
     ENSP00000415292   ENSP00000464653   ENSP00000464183   ENSP00000462466   ENSP00000463892  
     ENSP00000462954   ENSP00000464089  

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    Novus Biologicals DYM Protein
    Novus Biologicals DYM Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for DYM 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA--
    GO:0005886plasma membrane IDA--

    DYM 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
    1 InterPro protein domain:
     IPR019142 Dymeclin

    Graphical View of Domain Structure for InterPro Entry Q7RTS9

    ProtoNet protein and cluster: Q7RTS9

    UniProtKB/Swiss-Prot: DYM_HUMAN, Q7RTS9
    Similarity: Belongs to the dymeclin family


    DYM 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: DYM_HUMAN, Q7RTS9
    Function: Necessary for correct organization of Golgi apparatus. Involved in bone development

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding IPI--
    GO:0019899enzyme binding IPI--
         
    DYM for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for DYM:
     Increased S DNA content 

         7 MGI mutant phenotypes (inferred from 1 allele(MGI details for Dym):
     behavior/neurological  cellular  craniofacial  growth/size  limbs/digits/tail 
     renal/urinary system  skeleton 

    DYM for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for DYM 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for DYM

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

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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



    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for DYM

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    5/9 Interacting proteins for DYM (Q7RTS93 ENSP000002694454) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TBC1D22BQ9NU193, ENSP000003625904I2D: score=2 STRING: ENSP00000362590
    GMPSP499153I2D: score=4 
    SPAG9O602713I2D: score=4 
    ACO2Q997983I2D: score=2 
    C12orf4Q9NQ893I2D: score=2 
    About this table

    Gene Ontology (GO): 2 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007030Golgi organization IMP--
    GO:0060348bone development IMP--

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

    Browse Tocris compounds for DYM

    Search CenterWatch for drugs/clinical trials and news about DYM

    (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 DYM gene: 
    NM_017653.3  

    Unigene Cluster for DYM:

    Dymeclin
    Hs.162996  [show with all ESTs]
    Unigene Representative Sequence: BC064394
    18/20 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000442713 ENST00000577734 ENST00000269445(uc002ldi.1 uc010xdf.1 uc002ldj.3)
    ENST00000583270 ENST00000582399(uc010dov.1) ENST00000584983 ENST00000418472
    ENST00000580615 ENST00000583225 ENST00000581738 ENST00000583280 ENST00000578396
    ENST00000578596 ENST00000579058 ENST00000583353 ENST00000577481 ENST00000584977
    ENST00000581409
    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DYM
    Search QIAGEN for miScript miRNA Assays for microRNAs that regulate DYM
    SwitchGear 3'UTR luciferase reporter plasmidDYM 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat DYM
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DYM

    Additional mRNA sequence: 

    AK074611.1 AK091256.1 AK225205.1 AK291303.1 AK296579.1 AK315091.1 AL390156.1 AY364250.1 
    BC001252.1 BC064394.1 DQ925676.1 

    21 DOTS entries:

    DT.453165  DT.100811518  DT.100811522  DT.97825177  DT.121082614  DT.100811516  DT.100811515  DT.121082640 
    DT.100811514  DT.102832490  DT.121082634  DT.301836  DT.97809882  DT.121082609  DT.86857810  DT.100811519 
    DT.100811520  DT.100811523  DT.101963198  DT.121082582  DT.121082591 

    24/249 AceView cDNA sequences (see all 249):

    BQ431475 AI916571 Z45593 BC001252 Z45100 T36102 AU279833 AA706600 
    AK091256 BQ425158 CD365614 BM920000 CB243827 BX424335 BU619330 BC064394 
    BF903644 AL390156 AA045337 BM787129 BX441584 BM720033 BQ021755 AA446833 

    GeneLoc Exon Structure


    (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

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


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

    SOURCE GeneReport for Unigene cluster: Hs.162996

    UniProtKB/Swiss-Prot: DYM_HUMAN, Q7RTS9
    Tissue specificity: Expressed in most embryo-fetal and adult tissues. Abundant in primary chondrocytes,
    osteoblasts, cerebellum, kidney, lung, stomach, heart, pancreas and fetal brain. Very low or no expression in the
    spleen, thymus, esophagus, bladder and thyroid gland

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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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for DYM gene from 9/18 species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Dym1 , 5 dymeclin1, 5 86.2(n)1
    94.77(a)1
      18 (50.97 cM)5
    691901  NM_027727.21  NP_082003.11 
     750187725 
    chicken
    (Gallus gallus)
    Aves DYM1 dymeclin 78.79(n)
    88.17(a)
      426843  NM_001031398.1  NP_001026569.1 
    lizard
    (Anolis carolinensis)
    Reptilia DYM6
    dymeclin
    80(a)
    1 ↔ 1
    2(196211-391078)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.338622 Xenopus laevis transcribed sequence with moderate similarity more 81(n)    AW634483.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5723251 dymeclin-like 65.97(n)
    75.28(a)
      572325  XM_696033.5  XP_701125.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG82301 CG8230 50.41(n)
    46.15(a)
      35897  NM_136587.2  NP_610431.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C47D12.21 Protein C47D12.2 49.2(n)
    42.22(a)
      174789  NM_064091.3  NP_496492.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G042001 hypothetical protein 45.28(n)
    34.59(a)
      839439  NM_100301.4  NP_171916.2 
    rice
    (Oryza sativa)
    Liliopsida Os01g07731001 hypothetical protein 47.65(n)
    35.74(a)
      4324715  NM_001050933.1  NP_001044398.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for DYM gene
    18 SIMAP similar genes for DYM using alignment to 13 protein entries:     DYM_HUMAN (see all proteins):
    FAM210A    ZNF738    ZNF83    AURA2    C4orf19    CHID1
    CRCP    MPP4    ZNF527    NSRP1    ZNF547    DAPL1
    ERBB2    ZNF585B    FAM3A    ZNF74    HEXDC    APOPT1

    DYM 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

    10/8416 SNPs in DYM are shown (see all 8416)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0544994
    Dyggve-Melchior-Clausen syndrome (DMC)4--see VAR_0544992 N Y mis40--------
    VAR_0652934
    Smith-McCort dysplasia 1 (SMC1)4--see VAR_0652932 C R mis40--------
    VAR_0227404
    Smith-McCort dysplasia 1 (SMC1)4--see VAR_0227402 E K mis40--------
    rs1200741621,2
    Cpathogenic146904438(-) ACTTAA/TGAAGA 2 * Y stg10--------
    rs1388830361,2
    C--43425391(+) CACAG-/ACACAGA 1 -- int10--------
    rs1120030131,2
    C--43442755(+) TCTCTC/TTTTTT 1 -- int11Minor allele frequency- T:0.50WA 2
    rs2018748381,2
    C--43460384(+) AGGGGC/TGGCGG 1 -- int10--------
    rs1437938521,2
    C--43462694(+) GAGCC-/AATATG 1 -- int10--------
    rs348694861,2
    C--43562852(+) TTTGC-/ACAACTAG 1 -- int10--------
    rs105803581,2
    C--43562854(+) TGCAC-/AACTAGTC 1 -- int10--------

    HapMap Linkage Disequilibrium report for DYM (46570039 - 46820039 bp, first 250kb of DYM)

    Structural Variations
         Database of Genomic Variants (DGV) 10/27 variations for DYM (see all 27):    About this table     
    Variant IDTypeSubtypePubMed ID
    esv2717080CNV Deletion23290073
    esv2717078CNV Deletion23290073
    esv2677151CNV Deletion23128226
    esv2717081CNV Deletion23290073
    esv2669820CNV Deletion23128226
    esv2717083CNV Deletion23290073
    esv2717077CNV Deletion23290073
    esv2661405CNV Deletion23128226
    esv2717079CNV Deletion23290073
    esv2717082CNV Deletion23290073


    Human Gene Mutation Database (HGMD): DYM
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing DYM
    DNA2.0 Custom Variant and Variant Library Synthesis for DYM

    (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: 607461   
    OMIM disorders: 223800  607326  
    UniProtKB/Swiss-Prot: DYM_HUMAN, Q7RTS9
  • Dyggve-Melchior-Clausen syndrome (DMC) [MIM:223800]: A rare autosomal recessive disorder belonging to the
    group of spondyloepimetaphyseal dysplasias. DMC is characterized by progressive short stature with short trunk
    dwarfism, microcephaly, protruding sternum, and psychomotor retardation. Radiological features include a
    platyspondyly with double vertebral humps, an epiphyso-metaphyseal dysplasia and lacy pelvis iliac crests.
    Note=The disease is caused by mutations affecting the gene represented in this entry
  • Smith-McCort dysplasia 1 (SMC1) [MIM:607326]: A rare autosomal recessive osteochondrodysplasia with
    skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no
    microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype
    includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy
    appearance of the iliac crest. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 15 diseases for DYM:    About MalaCards
    dyggve-melchior-clausen syndrome    smith mccort dysplasia    osteochondrodysplasia    sponastrime dysplasia
    gangliosidosis gm1    gangliosidosis    dwarfism    turner syndrome
    acromegaly    chondrodysplasia    mental retardation    microcephaly
    intellectual disability    atherosclerosis    thyroiditis

    3 diseases from the University of Copenhagen DISEASES database for DYM:
    Spondyloepimetaphyseal dysplasia     Intellectual disability     Microcephaly

    DYM for disorders           About GeneDecksing

    3 Novoseek inferred disease relationships for DYM gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dwarfism 73.8 2 18996921 (1)
    dysplasia 67.4 6 15726110 (1), 18852472 (1), 18996921 (1)
    mental retardation 65.7 2 15464420 (1), 15726110 (1)

    Genetic Association Database (GAD): DYM
    Human Genome Epidemiology (HuGE) Navigator: DYM (4 documents)

    Export disorders for DYM 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 DYM gene, integrated from 9 sources (see all 33):
    (articles sorted by number of sources associating them with DYM)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus. (PubMed id 18996921)1, 2, 9 Dimitrov A.... El Ghouzzi V. (2009)
    2. Mental retardation and abnormal skeletal development (Dyggve- Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. (PubMed id 12491225)1, 2, 9 Cohn D.H.... Rimoin D.L. (2003)
    3. Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. (PubMed id 12554689)1, 2, 9 El Ghouzzi V.... Cormier-Daire V. (2003)
    4. Genome-wide association study of body height in Africa n Americans: the Women's Health Initiative SNP Health Association Resource (SHAR e). (PubMed id 22021425)1, 4 Carty C.L....Kooperberg C. (2012)
    5. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. (PubMed id 21998595)1, 4 N'Diaye A....Haiman C.A. (2011)
    6. Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organiz ation and is associated with protein secretion pathways critical in bone develo pment. (PubMed id 21280149)1, 2 Denais C....Machado R.D. (2011)
    7. The role of height-associated loci identified in geno me wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (2010)
    8. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    9. An association study between the dymeclin gene and sc hizophrenia in the Japanese population. (PubMed id 20555340)1, 4 Yazaki S....Arinami T. (2010)
    10. Genome-wide association analysis identifies 20 loci that influence adult height. (PubMed id 18391952)1, 4 Weedon M.N....Frayling T.M. (2008)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
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      (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: 54808 HGNC: 21317 AceView: FLJ20071 Ensembl:ENSG00000141627 euGenes: HUgn54808
    ECgene: DYM H-InvDB: DYM

    (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 DYM 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 DYM gene:
    Search GeneIP for patents involving DYM

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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