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

DYM Gene

protein-coding   GIFtS: 52
GCID: GC18M046570

dymeclin
 Explore 14 diseases affiliated with
DYM via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for DYM    

Aliases
for DYM gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Dymeclin1
DMC1 2 5
SMC1 2 5
Dyggve-Melchior-Clausen Syndrome Protein2 3
FLJ200711
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


Summaries
for DYM gene

(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:
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)

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

Gene Wiki entry for DYM


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.1  NT_010966.14  
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 plasmid: DYM 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

Proteins
for DYM gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • Myristoylated in vitro; myristoylation is not essential for protein targeting to Golgi compartment1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q7RTS9

    • DYM Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    Human Recombinant Protein Products: 
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    Novus Biologicals DYM Protein
    Novus Biologicals DYM Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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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    Uscn ELISAs and CLIAs for DYM

    Protein Domains /
    Families
    for DYM gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    DYM for domains           About GeneDecksing

    1 InterPro domain/family:
     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


    Function
    for DYM gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat DYM
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    SwitchGear 3'UTR luciferase reporter plasmid: DYM 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DYM (see all 6)
    OriGene siRNA: DYM
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    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for DYM (see all 4)
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
    GO:0019899enzyme binding IPI--


    DYM for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for DYM:
     Increased S DNA content 

    Animal Models:
         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


    Pathways & Interactions
    for DYM gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 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



    Drugs & Compounds
    for DYM gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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 

    Transcripts
    for DYM gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, 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
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    Browse OriGene MicroRNA Expression Plasmids
    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 plasmid: DYM 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for DYM (see all 6)
    OriGene siRNA: DYM
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat DYM
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for DYM
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector: DYM (NM_017653)
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    Primer
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat DYM

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

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

    F02443 BQ932154 AA923417 AI933605 CK430485 BU508167 BX092620 BK000950 
    AW968535 BI254524 BQ001586 BQ030229 BU685806 BG219137 NM_017653 CB243827 
    BX424335 BQ021755 AA355490 BI861499 Z45100 CB132440 CA393982 AA972344 

    GeneLoc Exon Structure


    Expression
    for DYM gene

    (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
    CGAP TAG: GATTCCGACT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    DYM expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Early limb mesenchymal cells (ELM cells) (Primary Cell)Bone, Cartilage, Limb
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    Assay Products:     
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    Orthologs
    for DYM gene

    (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 9/26 species (see all 26)    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
    		 --
    		 87(a)
    		 1 ↔ 1
    		 2(219084-387796)
    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
    for DYM gene

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

    Genomic Variants
    for DYM gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/7081 NCBI SNPs in DYM are shown (see all 7081)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 18 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs787067211,2
    		F,--43422553(+) TATTCT/CTTTTT 1 -- ds50011Minor allele frequency- C:0.03WA 118
    rs788269281,2
    		F,--43422654(+) ACACAC/TGACTT 1 -- ds50013Minor allele frequency- T:0.06CSA WA 122
    rs455760311,2
    		--43422948(+) TATTGC/TTGTGT 1 -- ut310--------
    rs1116414281,2
    		--43423390(+) TTTGCA/GGGTGG 1 -- int13Minor allele frequency- G:0.04CSA NA EA 242
    rs1131967441,2
    		--43423702(+) CTTTTG/AAGAGG 1 -- int12Minor allele frequency- A:0.06CSA NA 122
    rs169604441,2
    		C,F,H,--43424056(+) CAGCAC/GTTGCG 1 -- int110Minor allele frequency- G:0.06NA NS EA WA CSA 678
    rs756951641,2
    		C,--43424957(+) CCAGAC/GTGGGG 1 -- int12Minor allele frequency- G:0.05WA 120
    rs1133960051,2
    		C,--43425658(+) ACACA-/ACAC  
      ACACAG    ACACA     		1 -- int11Minor allele frequency- ACACACACAG:0.50CSA 2
    rs1896181,2
    		H--43425737(+) caggtA/Ttagta 1 -- int14Minor allele frequency- T:0.00NS EA 416
    rs801919211,2
    		--43425988(+) CCTAAG/CAGTGA 1 -- int13Minor allele frequency- C:0.04CSA NA EA 242

    HapMap Linkage Disequilibrium report for DYM (46570039 - 46820039 bp, first 250kb of DYM)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 4 variations for DYM
         3 CNVs: 49995 5056 35572
         1 Indel: 102657
    Human Gene Mutation Database (HGMD): DYM

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing DYM
    DNA2.0 Custom Variant and Variant Library Synthesis for DYM

    Disorders / Diseases
    for DYM gene

    (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.)
    About This Section
    DYM for disorders           About GeneDecksing

    OMIM gene information: 607461   
    OMIM disorders: 223800  607326  
    UniProtKB/Swiss-Prot: DYM_HUMAN, Q7RTS9
  • Defects in DYM are the cause of Dyggve-Melchior-Clausen syndrome (DMC) [MIM:223800]. DMC is a rare autosomal
    • recessive disorder characterized by short trunk dwarfism, microcephaly and psychomotor retardation. Electron
    microscopic study of cutaneous cells of affected patients shows dilated rough endoplasmic reticulum, enlarged and
    aberrant vacuoles and numerous vesicles. DMC is progressive
  • Defects in DYM are the cause of Smith-McCort dysplasia (SMC) [MIM:607326]. SMC is a rare autosomal recessive
    • osteochondrodysplasia 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, features identical to those of Dyggve-Melchior-Clausen syndrome

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

    5 diseases from the University of Copenhagen DISEASES database for DYM:
    Sponastrime dysplasia     Spondyloepimetaphyseal dysplasia     Intellectual disability     Gangliosidosis GM1
    Microcephaly

    3 Novoseek 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)

    Human Genome Epidemiology (HuGE) Navigator: DYM (4 documents)

    Export disorders for DYM gene to outside databases

    Publications
    for DYM gene

    (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 31):
    (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. 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)
    5. 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)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    7. Portuguese case of Smith-McCort syndrome caused by a new mutation in the Dymeclin (FLJ20071) gene. (PubMed id 19005420)2, 9 Santos H.G....Almeida M.R. (2009)
    8. 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 Carty C.L....Kooperberg C. (2012)
    9. Dyggve-Melchior-Clausen syndrome: novel splice mutati on with atlanto-axial subluxation. (PubMed id 20865280)1 Khalifa O....Al-Owain M. (2011)
    10. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)

    External Searches for DYM gene

    (in PubMed, OMIM, and NCBI Bookshelf)
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    Genome Databases showing DYM gene

    (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

    Other Databases showing DYM gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing DYM gene

    (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

    Intellectual Property
    for DYM gene

    (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

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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013

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