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

TMED7 Gene

protein-coding   GIFtS: 48
GCID: GC05M114978

transmembrane emp24 protein transport domain containing...

 Explore 4 diseases affiliated with
TMED7 via our new
 Human Malady Compendium 
Biological research products
for TMED7
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Transmembrane Emp24 Protein Transport Domain Containing 71 2     CGI-1091
P24 Family Protein Gamma-32 3     FLJ904811
P24gamma31     Transmembrane Emp24 Domain-Containing Protein 72
P271     

External Ids:    HGNC: 242531   Entrez Gene: 510142   Ensembl: ENSG000001349707   UniProtKB: Q9Y3B33   

Export aliases for TMED7 gene to outside databases

Previous GC identifer: GC05M110130


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

UniProtKB/Swiss-Prot: TMED7_HUMAN, Q9Y3B3
Function: Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Appears to play a
role in the biosynthesis of secreted cargo including processing and post-translational modifications




(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_000005.9  NC_018916.1  NT_034772.6  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for TMED7
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search SABiosciences Chromatin IP Primers for TMED7

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat TMED7


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

Entrez Gene cytogenetic band: 5q22.3   Ensembl cytogenetic band:  5q22.3   HGNC cytogenetic band: 5q22.3

TMED7 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMED7 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05M114978:  view genomic region     (about GC identifiers)

Start:
114,948,905 bp from pter      End:
114,968,689 bp from pter
Size:
19,785 bases      Orientation:
minus strand

(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: TMED7_HUMAN, Q9Y3B3 (See protein sequence)
Recommended Name: Transmembrane emp24 domain-containing protein 7 precursor  
Size: 224 amino acids; 25172 Da
Subunit: Predominantly monomeric and to lesser extent homodimeric in endoplasmic reticulum, endoplasmic reticulum-Golgi
intermediate compartment and cis-Golgi network. Oligomerizes with other members of the EMP24/GP25L family such as
TMED2, TMED9 and TMED10. Interacts (via C-terminus) with COPG1; the interaction involves dimeric TMED7
Subcellular location: Endoplasmic reticulum membrane; Single-pass type I membrane protein. Golgi apparatus, cis-Golgi
network membrane; Single-pass type I membrane protein. Endoplasmic reticulum-Golgi intermediate compartment membrane;
Single-pass type I membrane protein. Cytoplasmic vesicle, COPI-coated vesicle membrane; Single-pass type I membrane
protein (By similarity). Cytoplasmic vesicle, COPII-coated vesicle membrane; Single-pass type I membrane protein (By
similarity). Note=Cycles between compartments of the early secretatory pathway
Secondary accessions: Q8NBU8 Q8WUU6 Q96K51
Alternative splicing: 2 isoforms:  Q9Y3B3-1   Q9Y3B3-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for TMED7: NX_Q9Y3B3

Post-translational modifications:

  • N-linked glycosylated in complex form containing terminal sialic acid1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9Y3B3

  • TMED7 Protein expression data from MOPED and PaxDb:    About this image 
    TMED7 Protein Expression
    REFSEQ proteins: NP_861974.1  
    ENSEMBL proteins: 
     ENSP00000405926   ENSP00000450928  

    Human Recombinant Protein Products for TMED7: 
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    Uscn Proteins for TMED7

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005783endoplasmic reticulum IDA12237308
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005793endoplasmic reticulum-Golgi intermediate compartment IDA10359607
    GO:0005794Golgi apparatus IDA12237308
    GO:0016021integral to membrane IEA--

    TMED7 for ontologies           About GeneDecksing



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

    TMED7 for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR015718 P24-related
     IPR009038 GOLD

    Graphical View of Domain Structure for InterPro Entry Q9Y3B3

    ProtoNet protein and cluster: Q9Y3B3

    1 Blocks protein family: IPB000348 emp24/gp25L/p24 family

    UniProtKB/Swiss-Prot: TMED7_HUMAN, Q9Y3B3
    Similarity: Belongs to the EMP24/GP25L family
    Similarity: Contains 1 GOLD domain


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TMED7_HUMAN, Q9Y3B3
    Function: Potential role in vesicular protein trafficking, mainly in the early secretory pathway. Appears to play a
    role in the biosynthesis of secreted cargo including processing and post-translational modifications

    Animal Models:

       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for TMED7 

    miRNA
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    miRTarBase miRNAs that target TMED7:
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TMED7
    8/57 QIAGEN miScript miRNA Assays for microRNAs that regulate TMED7 (see all 57):
    hsa-miR-548j hsa-miR-300 hsa-miR-570 hsa-miR-183* hsa-miR-548d-5p hsa-miR-548a-5p hsa-miR-23a hsa-miR-192*
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    (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:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for TMED7

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

    5/60 Interacting proteins for TMED7 (Q9Y3B33 ENSP000004059264) via UniProtKB, MINT, STRING, and/or I2D (see all 60)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IL1R1P147783I2D: score=1 
    IL1RAPQ9NPH33I2D: score=1 
    IRAK2O431873I2D: score=1 
    IRAK3Q9Y6163I2D: score=1 
    IRF3Q146533I2D: score=1 
    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:0006810transport ----
    GO:0015031protein transport IEA--

    TMED7 for ontologies           About GeneDecksing



    (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 TMED7
    Search CenterWatch for drugs/clinical trials and news about TMED7 

    (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, Sirion Biotech, 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 TMED7 gene: 
    NM_181836.5  

    Unigene Cluster for TMED7:

    Transmembrane emp24 protein transport domain containing 7
    Hs.642817  [show with all ESTs]
    Unigene Representative Sequence: BM805167
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000456936(uc011cwd.2 uc003krf.3) ENST00000503010 ENST00000508420


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    8/57 QIAGEN miScript miRNA Assays for microRNAs that regulate TMED7 (see all 57):
    hsa-miR-548j hsa-miR-300 hsa-miR-570 hsa-miR-183* hsa-miR-548d-5p hsa-miR-548a-5p hsa-miR-23a hsa-miR-192*
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TMED7 (see all 4)
    OriGene shRNA RFP: TMED7
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    Additional cDNA sequence: 

    AB002450.1 AB002451.1 

    8 DOTS entries:

    DT.91706620  DT.317427  DT.91756295  DT.120852782  DT.95134717  DT.120852775  DT.120852795  DT.95134675 

    24/366 AceView cDNA sequences (see all 366):

    AA669463 BC019349 CB529150 AA476468 AI537661 BE673298 AY275836 BI962933 
    AY304584 W32427 AA382927 BU684585 AI276165 NM_021649 AI917913 D57799 
    CA867704 AY232653 CA441688 AI457158 CB122425 AI687414 T39138 CA440665 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for TMED7 (see all 6)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b · 6c · 6d · 6e
    SP1:                                      -                                                         
    SP2:                                      -                 -     -                                 
    SP3:                                      -                 -     -     -                           
    SP4:                                      -                                                         
    SP5:                                                        -     -                                 


    ECgene alternative splicing isoforms for TMED7

    (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

    TMED7 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTAAAATTGA
    TMED7 Expression
    About this image

    TMED7 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Head MesenchymeBranchial Arch 1Paraxial Mesoderm CellsBone, Skeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See TMED7 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMED7

    SOURCE GeneReport for Unigene cluster: Hs.642817
        SABiosciences Custom PCR Arrays for TMED7
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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)
    About This Section

    This gene was present in the common ancestor of animals and fungi.

    Orthologs for TMED7 gene from 8/30 species (see all 30)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmed71 , 5 transmembrane emp24 protein transport domain containing more1, 5 90.18(n)1
    95.98(a)1
      18 (24.65 cM)5
    666761  NM_025698.11  NP_079974.11 
     465602355 
    chicken
    (Gallus gallus)
    Aves TMED71 transmembrane emp24 protein transport domain containing more 81.64(n)
    89.81(a)
      769360  XM_003643074.1  XP_003643122.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    83(a)
    1 → many
    GL343193.1(8321020-8326692)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.79802 Xenopus laevis transcribed sequence with moderate similarity more 78.65(n)    CD327203.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tmed71 transmembrane emp24 protein transport domain containing more 71.64(n)
    84.58(a)
      405848  NM_212912.1  NP_998077.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta p24-11 p24-related-1 54.21(n)
    48.42(a)
      32140  NM_132526.2  NP_572754.1 
    worm
    (Caenorhabditis elegans)
    Secernentea F57B10.51 Protein F57B10.5 57.53(n)
    59.14(a)
      172372  NM_059491.3  NP_491892.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERP21 Erp2p 43.06(n)
    26.56(a)
      851226   NP_009395.1 


    ENSEMBL Gene Tree for TMED7 (if available)
    TreeFam Gene Tree for TMED7 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for TMED7 gene
    TMED52  TMED12  TICAM22  TMED7-TICAM22  TMED22  TMED32  
    8 SIMAP similar genes for TMED7 using alignment to 3 protein entries:     TMED7_HUMAN (see all proteins):
    TIRAP3    TMED3    RNP24    TMED2    TMED4    TMED9
    TMED5    TMED1

    TMED7 for paralogs           About GeneDecksing



    (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

    10/245 NCBI SNPs in TMED7 are shown (see all 245    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1880516921,2
    --114948612(+) GACTGC/GTATGG 3 -- ds5001 int10--------
    rs778643461,2
    C,F--114948750(+) TGTCAA/GTACAA 3 -- ds5001 int11Minor allele frequency- G:0.07WA 118
    rs1137751651,2
    F--114949041(+) CAGACG/ATGGTA 3 -- ut31 int12Minor allele frequency- A:0.50CSA 4
    rs1473692991,2
    --114949058(+) TTTCAC/TCTTCT 3 -- int1 ut310--------
    rs1928367691,2
    --114949077(+) CAGTCC/TCTCAG 3 -- int1 ut310--------
    rs1142440321,2
    F--114949116(+) TCACTC/TTCATT 3 -- ut31 int11Minor allele frequency- T:0.02WA 118
    rs1395674951,2
    --114949436(+) AATTTC/GCTTTT 3 -- ut31 int10--------
    rs174742161,2
    C,F,H--114949680(+) GAGCCA/GTTATG 3 -- int1 ut31 ese39Minor allele frequency- G:0.05NA NS EA WA 800
    rs788215711,2
    --114949766(+) AAATTA/TTGTAG 3 -- ut31 int11Minor allele frequency- T:0.01NA 120
    rs1505257871,2
    C--114949816(+) GATAG-/GTAT  
            
    GTATT
    3 -- ut31 int10--------

    HapMap Linkage Disequilibrium report for TMED7 (114948905 - 114968689 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for TMED7
         3 CNVs: 93197 81015 93198

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TMED7
    DNA2.0 Custom Variant and Variant Library Synthesis for TMED7

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    TMED7 for disorders           About GeneDecksing

    4 diseases for TMED7:    About MalaCards
    chronic lymphocytic leukemia    lymphocytic leukemia    leukemia    lung cancer

    Human Genome Epidemiology (HuGE) Navigator: TMED7 (1 document)

    Export disorders for TMED7 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 TMED7 gene, integrated from 9 sources (see all 16):
    (articles sorted by number of sources associating them with TMED7)
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    1. Identification of novel human genes evolutionarily conserved in Caenorhabditis elegans by comparative proteomics. (PubMed id 10810093)1, 2, 3 Lai C.H....Lin W. (2000)
    2. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (2005)
    3. 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)
    4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    5. Oligomeric state and stoichiometry of p24 proteins in the early secretory pathway. (PubMed id 12237308)1, 2 Jenne N.... Wieland F.T. (2002)
    6. Localization and recycling of gp27 (hp24gamma3): comp lex formation with other p24 family members. (PubMed id 10359607)1, 2 FA1llekrug J....Nilsson T. (1999)
    7. The GOLD domain-containing protein TMED7 inhibits TLR4 signalling from the endosome upon LPS stimulation. (PubMed id 22426228)1 Doyle S.L....McGettrick A.F. (2012)
    8. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (2011)
    9. Single nucleotide polymorphisms of matrix metalloprot einase 9 (MMP-9) and tumour protein 73 (TP73) interact with Epstein Barr virus in chronic lymphocytic leukemia: results from the European case-control study E piLymph. (PubMed id 21048031)1 Casabonne D....de Sanjose S. (2010)
    10. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)1 Abdelmohsen K....Gorospe M. (2009)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51014 HGNC: 24253 AceView: TICAM2andCGI-109 Ensembl:ENSG00000134970 euGenes: HUgn51014
    ECgene: TMED7 H-InvDB: TMED7

    (According to HUGE)
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      --

    (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 TMED7 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 TMED7 gene:
    Search GeneIP for patents involving TMED7

    GeneCards and IP:
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