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MIEF2 Gene

protein-coding   GIFtS: 38
GCID: GC17P018164

Mitochondrial Elongation Factor 2

(Previous names: Smith-Magenis syndrome chromosome region, candidate 7)
(Previous symbol: SMCR7)
  Search for MIEF2
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
Mitochondrial Elongation Factor 21 2 3     Smith-Magenis Syndrome Chromosomal Region Candidate Gene 7 Protein2 3
SMCR71 2 3 5     Mitochondrial Dynamic Protein MID492
MID492 3 5     Mitochondrial Dynamic Protein Of 49 KDa2
Smith-Magenis Syndrome Chromosome Region, Candidate 71 2     Mitochondrial Dynamics Protein MID492
Mitochondrial Dynamics Protein Of 49 KDa2 3     MEIF25

External Ids:    HGNC: 179201   Entrez Gene: 1251702   Ensembl: ENSG000001774277   OMIM: 6154985   UniProtKB: Q96C033   

Export aliases for MIEF2 gene to outside databases


(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 MIEF2 Gene:
This gene encodes an outer mitochondrial membrane protein that functions in the regulation of mitochondrial
morphology. It can directly recruit the fission mediator dynamin-related protein 1 (Drp1) to the mitochondrial
surface. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing
results in multiple transcript variants encoding different isoforms. (provided by RefSeq, Jun 2011)

GeneCards Summary for MIEF2 Gene:
MIEF2 (mitochondrial elongation factor 2) is a protein-coding gene. An important paralog of this gene is MIEF1.

UniProtKB/Swiss-Prot: MID49_HUMAN, Q96C03
Function: Mitochondrial outer membrane protein which regulates mitochondrial fission. Promotes the recruitment and
association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently
of the mitochondrial fission FIS1 and MFF proteins




(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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Regulatory elements:
   Search for regulatory transcription factor binding sites for MIEF2
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMIEF2 promoter sequence
   Search Chromatin IP Primers for MIEF2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MIEF2


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

Entrez Gene cytogenetic band: 17p11.2   Ensembl cytogenetic band:  17p11.2   HGNC cytogenetic band: 17p11.2

MIEF2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MIEF2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P018164:  view genomic region     (about GC identifiers)

Start:
18,163,848 bp from pter      End:
18,169,866 bp from pter
Size:
6,019 bases      Orientation:
plus 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: MID49_HUMAN, Q96C03 (See protein sequence)
Recommended Name: Mitochondrial dynamics protein MID49  
Size: 454 amino acids; 49269 Da
Subunit: Interacts with DNM1L
Secondary accessions: J3KPT3 Q6ZRD4 Q96N07
Alternative splicing: 3 isoforms:  Q96C03-1   Q96C03-2   Q96C03-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for MIEF2: NX_Q96C03

Explore proteomics data for MIEF2 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys7, Lys69
  • Modification sites at PhosphoSitePlus

  • See MIEF2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001138372.1  NP_631901.2  NP_683684.2  

    ENSEMBL proteins: 
     ENSP00000323591   ENSP00000463015   ENSP00000379056   ENSP00000379055   ENSP00000464017  
     ENSP00000465801   ENSP00000379057  

    MIEF2 Human Recombinant Protein Products:

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    Browse Proteins at Cloud-Clone Corp.

     
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    Search eBioscience for ELISAs for MIEF2 


    (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:
     IPR024810 Mab-21_dom

    Graphical View of Domain Structure for InterPro Entry Q96C03

    ProtoNet protein and cluster: Q96C03

    UniProtKB/Swiss-Prot: MID49_HUMAN, Q96C03
    Similarity: Belongs to the MID49/MID51 family


    Find genes that share domains with MIEF2           About GenesLikeMe


    (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,
    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: MID49_HUMAN, Q96C03
    Function: Mitochondrial outer membrane protein which regulates mitochondrial fission. Promotes the recruitment and
    association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently
    of the mitochondrial fission FIS1 and MFF proteins

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16189514
         
    Find genes that share ontologies with MIEF2           About GenesLikeMe


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MIEF2
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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
    MID49_HUMAN, Q96C03: Mitochondrion outer membrane; Single-pass membrane protein. Note=Colocalizes with DNM1L at
    mitochondrial membrane. Forms foci and rings around mitochondria

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA--
    GO:0005741mitochondrial outer membrane IDA--
    GO:0005777NOT peroxisome TAS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with MIEF2           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 MIEF2
    Interactions:

        Search GeneGlobe Interaction Network for MIEF2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for MIEF2 (Q96C031, 2, 3 ENSP000003790574) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    DNM1LO004291, 2, 3, ENSP000002664814EBI-750153,EBI-724571 MINT-8185615 MINT-8185580 MINT-8185597 I2D: score=1 STRING: ENSP00000266481
    TOMM20Q153882, 3, ENSP000003555664MINT-8185565 I2D: score=1 STRING: ENSP00000355566
    RABAC1Q9UI141, 3, ENSP000002220084EBI-750153,EBI-712367 I2D: score=3 STRING: ENSP00000222008
    UBQLN4Q9NRR52, 3, ENSP000003572924MINT-2878570 I2D: score=3 STRING: ENSP00000357292
    UBQLN1Q9UMX03, ENSP000003655764I2D: score=3 STRING: ENSP00000365576
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007005mitochondrion organization IDA--
    GO:0008053NOT mitochondrial fusion IMP--
    GO:0032464positive regulation of protein homooligomerization IDA--
    GO:0090141positive regulation of mitochondrial fission TAS--
    GO:0090314NOT positive regulation of protein targeting to membrane IDA--

    Find genes that share ontologies with MIEF2           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 MIEF2 (MID49)



    (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 MIEF2 gene (3 alternative transcripts): 
    NM_001144900.1  NM_139162.3  NM_148886.1  

    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000323019(uc002gsu.3 uc002gst.3) ENST00000578174 ENST00000395704
    ENST00000395703 ENST00000577216 ENST00000578621 ENST00000579341 ENST00000583745
    ENST00000395706(uc010vxq.2)
    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat MIEF2
      QuantiFast Probe-based Assays in human, mouse, rat MIEF2

    Selected AceView cDNA sequences (see all 56):

    BU930992 BU623276 BU753759 AK056165 AK128310 CD636769 BE312163 NM_148886 
    NM_139162 CR611025 BU556862 BC035292 BM541891 BU844438 CD636767 AW296884 
    BM712817 AF467443 BG337897 BM549390 BM013486 AL530550 BG827145 AL559470 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MIEF2 (see all 9)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c · 7d
    SP1:                                      -                             -     -     -                                 
    SP2:                                      -                             -                                             
    SP3:                                      -                             -     -     -     -                           
    SP4:                                      -                             -     -                                       
    SP5:                                      -                             -     -     -                                 


    ECgene alternative splicing isoforms for MIEF2

    (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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    MIEF2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MIEF2 Expression
    About this image

    MIEF2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MIEF2 Protein Expression

    UniProtKB/Swiss-Prot: MID49_HUMAN, Q96C03
    Tissue specificity: Expressed in all tissues tested with highest expression in heart and skeletal muscle

        Custom PCR Arrays for MIEF2
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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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for MIEF2 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Smcr75
    Mief21
    Smith-Magenis syndrome chromosome region, candidate more5
    mitochondrial elongation factor 21
    80.4(n)1
    79.74(a)1
      11 (37.81 cM)5
    2377811  NM_001009927.21  NP_001009927.11 
     607283985 
    chicken
    (Gallus gallus)
    Aves SMCR71 Smith-Magenis syndrome chromosome region, candidate more 61.36(n)
    55.97(a)
      416516  XM_414820.4  XP_414820.4 
    lizard
    (Anolis carolinensis)
    Reptilia MIEF26
    mitochondrial elongation factor 2
    44(a)
    1 ↔ 1
    GL343618.1(171121-177721)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia mief21 mitochondrial elongation factor 2 53.36(n)
    47.23(a)
      100144671  XM_002935845.2  XP_002935891.1 
    zebrafish
    (Danio rerio)
    Actinopterygii mief26
    mitochondrial elongation factor 2
    41(a)
    1 ↔ 1
    1(7597407-7608093) ENSDARG00000002377


    ENSEMBL Gene Tree for MIEF2 (if available)
    TreeFam Gene Tree for MIEF2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MIEF2 gene
    MIEF12  
    3 SIMAP similar genes for MIEF2 using alignment to 5 protein entries:     MID49_HUMAN (see all proteins):
    DKFZp434F0116    MIEF1    DKFZp434E0130

    Find genes that share paralogs with MIEF2           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 MIEF2 (see all 176)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs26051411,2
    C,F,H--18164239(+) GTTTAC/TCCTGC 3 -- us2k1 int126Minor allele frequency- T:0.31NA NS EA WA CSA 2488
    rs1917672281,2
    --18164315(+) CAGGTC/TTGGCG 3 -- us2k1 int10--------
    rs26051421,2
    C,F,A,H--18164404(+) CTTCTC/TGGAGC 3 -- us2k1 int122Minor allele frequency- T:0.24NS EA NA WA CSA EU 2870
    rs1173044131,2
    C,F--18164475(+) AGACAG/AGTTGG 4 /K /R mis1 int12Minor allele frequency- A:0.01NA EU 689
    rs1408279561,2
    --18164512(+) CAAAGG/TAGATT 3 -- int10--------
    rs1150528421,2
    F--18164597(+) CCGTGG/ACGGGT 3 -- int11Minor allele frequency- A:0.15WA 118
    rs728319431,2
    C,F--18164644(+) TATTTT/ATAGTC 3 -- int14Minor allele frequency- A:0.13NA WA EA 360
    rs1146305241,2
    C,F--18164653(+) TCTGGG/AGCGAA 3 -- int11Minor allele frequency- A:0.03WA 118
    rs1501432621,2
    --18164877(+) CTTCTC/TAGCTC 3 -- int10--------
    rs1166574231,2
    C,F--18164902(+) CAGTGT/ACCCCC 3 -- int11Minor allele frequency- A:0.02WA 118

    HapMap Linkage Disequilibrium report for MIEF2 (18163848 - 18169866 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for MIEF2: --
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MIEF2
    DNA2.0 Custom Variant and Variant Library Synthesis for MIEF2

    (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.)
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    OMIM gene information: 615498    OMIM disorders: --


    Find genes that share disorders with MIEF2           About GenesLikeMe


    Export disorders for MIEF2 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 MIEF2 gene, integrated from 10 sources (see all 19):
    (articles sorted by number of sources associating them with MIEF2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MiD49 and MiD51, new components of the mitochondrial fission machinery. (PubMed id 21508961)1, 2, 3 Palmer C.S....Ryan M.T. (EMBO Rep. 2011)
    2. Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. (PubMed id 11997338)1, 2, 3 Bi W....Lupski J.R. (Genome Res. 2002)
    3. Fis1, Mff, MiD49, and MiD51 mediate Drp1 recruitment in mitochondrial fission. (PubMed id 23283981)1, 2 LosA^n O.C....Chan D.C. (Mol. Biol. Cell 2013)
    4. Interchangeable adaptors regulate mitochondrial dynamin assembly for membrane scission. (PubMed id 23530241)1, 2 Koirala S....Shaw J.M. (Proc. Natl. Acad. Sci. U.S.A. 2013)
    5. MiD49 and MiD51 can act independently of Mff and Fis1 in Drp1 recruitment and are specific for mitochondrial fission. (PubMed id 23921378)1, 2 Palmer C.S....Ryan M.T. (J. Biol. Chem. 2013)
    6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    7. The mitochondrial elongation factors MIEF1 and MIEF2 exert partially distinct functions in mitochondrial dynamics. (PubMed id 23880462)1 Liu T....NistAcr M. (Exp. Cell Res. 2013)
    8. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    9. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 125170 HGNC: 17920 AceView: SMCR7 Ensembl:ENSG00000177427 euGenes: HUgn125170
    ECgene: MIEF2 H-InvDB: MIEF2

    (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)
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    NameDescription
    PharmGKB entry for MIEF2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for MIEF2 gene:
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