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DYM Gene

protein-coding   GIFtS: 53
GCID: GC18M046570

Dymeclin

  See DYM-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
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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 smith mccort dysplasia, and dyggve-melchior-clausen syndrome. GO annotations related to this gene include 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000018.9  NT_010966.15  NC_018929.2  
Regulatory elements:
   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 Chromatin IP Primers for DYM

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 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: DYM_HUMAN, Q7RTS9 (See protein sequence)
Recommended Name: Dymeclin  
Size: 669 amino acids; 75935 Da
Subunit: Interacts with GOLM1 and PPIB
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: 

  • Myristoylated in vitro; myristoylation is not essential for protein targeting to Golgi compartment1
  • Ubiquitination2 at Lys498, Lys608
  • Modification sites at PhosphoSitePlus

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

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

    DYM Human Recombinant Protein Products:

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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

     
    Search eBioscience for Proteins for DYM 

     
    antibodies-online proteins for DYM (6 products) 

     
    Search antibodies-online for peptides for DYM

    DYM Antibody Products:

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    antibodies-online antibodies for DYM (21 products) 

    DYM Assay Products:

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    antibodies-online kits for DYM (8 products) 


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


    Find genes that share domains with DYM           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: DYM_HUMAN, Q7RTS9
    Function: Necessary for correct organization of Golgi apparatus. Involved in bone development

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005488binding ----
    GO:0005515protein binding IPI--
    GO:0019899enzyme binding IPI--
         
    Find genes that share ontologies with DYM           About GenesLikeMe


    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/body  limbs/digits/tail 
     renal/urinary system  skeleton 

    Find genes that share phenotypes with DYM           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for DYM

    miRNA
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    miRTarBase miRNAs that target DYM:
    hsa-mir-941 (MIRT036569)

    Block miRNA regulation of human, mouse, rat DYM using miScript Target Protectors
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    SwitchGear 3'UTR luciferase reporter plasmidDYM 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat DYM

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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
    DYM_HUMAN, Q7RTS9: 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
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    golgi apparatus5
    nucleus4
    plasma membrane4
    cytosol3
    extracellular2
    endoplasmic reticulum1
    mitochondrion1

    Gene Ontology (GO): 4 cellular component terms:    About this table

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

    Find genes that share ontologies with DYM           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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for DYM
    Interactions:

        GeneGlobe Interaction Network for DYM

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

    Selected 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:    About this table

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

    Find genes that share ontologies with DYM           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 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,
    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 DYM gene: 
    NM_017653.3  

    Unigene Cluster for DYM:

    Dymeclin
    Hs.162996  [show with all ESTs]
    Unigene Representative Sequence: BC064394
    Selected 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
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    GenScript: all cDNA clones in your preferred vector: DYM (NM_017653)
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    Primer
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      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 

    Selected AceView cDNA sequences (see all 249):

    AW968535 AA355490 BI254524 CB133433 CB132440 BM982032 F02443 CA425043 
    AA923417 CA393982 BQ008777 AI933605 BQ932154 BG219137 BK000950 AA600001 
    AI139588 CK430485 F03028 AX746878 CB128565 BU508167 BU685806 BQ030229 

    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™, 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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    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

    DYM Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    DYM Protein Expression

    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
    Assay Products:
     

     
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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 eukaryotes.

    Orthologs for DYM gene from Selected 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
    81(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 dym1 dymeclin 65.97(n)
    75.28(a)
      572325  XM_696033.6  XP_701125.6 
    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 C47D12.2 49(n)
    41.73(a)
      174789  NM_064091.4  NP_496492.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G042001 AT1G04200 44.69(n)
    33.75(a)
      839439  NM_100301.4  NP_171916.2 
    rice
    (Oryza sativa)
    Liliopsida Os01g07731001 Os01g0773100 46.58(n)
    34.62(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)
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    Paralogs for DYM gene
    Selected SIMAP similar genes for DYM using alignment to 13 protein entries:     DYM_HUMAN (see all proteins) (see all similar genes):
    FAM210A    ZNF738    ITM2B    ZNF83    AURA2    C4orf19
    CHID1    CRCP    MPP4    ZNF527    NSRP1    ZNF547
    DAPL1    ERBB2    ZNF585B    FAM3A    ZNF74    HEXDC

    Find genes that share paralogs with DYM           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 DYM (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) Selected 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
    Site Specific Mutation Identification with 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, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    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

  • 4 diseases for DYM:    
    About MalaCards
    smith mccort dysplasia    dyggve-melchior-clausen syndrome    osteochondrodysplasia    spondyloepimetaphyseal dysplasia

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

    Find genes that share disorders with DYM           About GenesLikeMe

    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)
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    PubMed articles for DYM gene, integrated from 10 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. (Hum. Mol. Genet. 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. (Am. J. Hum. Genet. 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. (Hum. Mol. Genet. 2003)
    4. Genome-wide association study of body height in African Americans: the Women's Health Initiative SNP Health Association Resource (SHARe). (PubMed id 22021425)1, 4 Carty C.L....Kooperberg C. (Hum. Mol. Genet. 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. (PLoS Genet. 2011)
    6. Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and Golgi organization and is associated with protein secretion pathways critical in bone development. (PubMed id 21280149)1, 2 Denais C....Machado R.D. (Hum. Mutat. 2011)
    7. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (BMC Med. Genet. 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. (Mol. Med. 2010)
    9. An association study between the dymeclin gene and schizophrenia in the Japanese population. (PubMed id 20555340)1, 4 Yazaki S....Arinami T. (J. Hum. Genet. 2010)
    10. Genome-wide association analysis identifies 20 loci that influence adult height. (PubMed id 18391952)1, 4 Weedon M.N....Frayling T.M. (Nat. Genet. 2008)

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

    (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)
    About This Section

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    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

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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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