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MIA3 Gene

protein-coding   GIFtS: 52
GCID: GC01P222791

Melanoma Inhibitory Activity Family, Member 3

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(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
Melanoma Inhibitory Activity Family, Member 31 2     C219-Reactive Peptide2 3
TANGO2 3 5     KIAA02683 5
TANGO12 3 5     Transport And Golgi Organization1
C219 Reactive Peptide1 2     ARNT2
Transport And Golgi Organization Protein 12 3     UNQ60772
D3202 3     Melanoma Inhibitory Activity Protein 32

External Ids:    HGNC: 240081   Entrez Gene: 3750562   Ensembl: ENSG000001543057   OMIM: 6134555   UniProtKB: Q5JRA63   

Export aliases for MIA3 gene to outside databases

Previous GC identifers: GC01U901180 GC01P220858 GC01P193465


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for MIA3 Gene:
MIA3 (melanoma inhibitory activity family, member 3) is a protein-coding gene. An important paralog of this gene is CTAGE4.

UniProtKB/Swiss-Prot: MIA3_HUMAN, Q5JRA6
Function: Required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers. May participate
in cargo loading of COL7A1 at endoplasmic reticulum exit sites by binding to COPII coat subunits Sec23/24 and
guiding SH3-bound COL7A1 into a growing carrier. Does not play a role in global protein secretion and is
apparently specific to COL7A1 cargo loading. However, it may participate in secretion of other proteins in cells
that do not secrete COL7A1




(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_000001.10  NT_004487.20  NC_018912.2  
Regulatory elements:
   Search for regulatory transcription factor binding sites for MIA3
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMIA3 promoter sequence
   Search Chromatin IP Primers for MIA3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MIA3


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

Entrez Gene cytogenetic band: 1q41   Ensembl cytogenetic band:  1q41   HGNC cytogenetic band: 1p36.33

MIA3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MIA3 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P222791:  view genomic region     (about GC identifiers)

Start:
222,791,428 bp from pter      End:
222,841,354 bp from pter
Size:
49,927 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., 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: MIA3_HUMAN, Q5JRA6 (See protein sequence)
Recommended Name: Melanoma inhibitory activity protein 3 precursor  
Size: 1907 amino acids; 213702 Da
Subunit: Interacts (via SH3 domain) with COL7A1. Associates with the COPII coat subunits Sec23/Sec24
Sequence caution: Sequence=BAC04810.1; Type=Erroneous initiation; Sequence=BAF83024.1; Type=Erroneous initiation;
Sequence=CAI40474.1; Type=Erroneous gene model prediction;
Secondary accessions: A8K2S0 A8MT05 A8MT13 B7Z430 Q14083 Q3S4X3 Q5JRA5 Q5JRB0 Q5JRB1 Q5JRB2
Q6UVY8 Q86Y60 Q8N8M5 Q92580
Alternative splicing: 4 isoforms:  Q5JRA6-1   Q5JRA6-2   Q5JRA6-3   Q5JRA6-4   

Explore the universe of human proteins at neXtProt for MIA3: NX_Q5JRA6

Explore proteomics data for MIA3 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys1477
  • Glycosylation2 at Thr161, Asn246, Asn250, Asn589, Thr768, Thr838, Thr1040, Thr1083, Thr1093, Ser1099,
                                 Thr1104
  • Modification sites at PhosphoSitePlus

  • See MIA3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_940953.2  
    ENSEMBL proteins: 
     ENSP00000340900   ENSP00000341348   ENSP00000355062   ENSP00000345866   ENSP00000396598  
     ENSP00000340587  

    MIA3 Human Recombinant Protein Products:

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    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MIA3

     
    Search eBioscience for Proteins for MIA3 

     
    Search antibodies-online for proteins for MIA3 

     
    Search antibodies-online for peptides for MIA3

    MIA3 Antibody Products:

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    antibodies-online antibodies for MIA3 (5 products) 

    MIA3 Assay Products:

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    Cloud-Clone Corp. ELISAs for MIA3
    Cloud-Clone Corp. CLIAs for MIA3
    Search eBioscience for ELISAs for MIA3 
    antibodies-online kits for MIA3 (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR001452 SH3_domain
     IPR011511 SH3_2

    Graphical View of Domain Structure for InterPro Entry Q5JRA6

    ProtoNet protein and cluster: Q5JRA6

    UniProtKB/Swiss-Prot: MIA3_HUMAN, Q5JRA6
    Domain: The proline-rich region (PRD) mediates the interaction with COPII coat subunits Sec23/24
    Domain: Although 2 transmembrane domains are predicted, PubMed:19269366 showed that it only contains one
    transmembrane domain. The other predicted transmembrane region is probably a hairpin-type region embedded into
    the membrane, which does not cross the membrane. It is unclear which of the 2 predicted transmembrane regions is
    the transmembrane or the hairpin-type region
    Similarity: Belongs to the MIA/OTOR family. Tango1 subfamily
    Similarity: Contains 1 SH3 domain


    Find genes that share domains with MIA3           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: MIA3_HUMAN, Q5JRA6
    Function: Required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers. May participate
    in cargo loading of COL7A1 at endoplasmic reticulum exit sites by binding to COPII coat subunits Sec23/24 and
    guiding SH3-bound COL7A1 into a growing carrier. Does not play a role in global protein secretion and is
    apparently specific to COL7A1 cargo loading. However, it may participate in secretion of other proteins in cells
    that do not secrete COL7A1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17726152
         
    Find genes that share ontologies with MIA3           About GenesLikeMe


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 1 allele(MGI details for Mia3):
     cardiovascular system  cellular  craniofacial  growth/size/body  homeostasis/metabolism 
     integument  limbs/digits/tail  mortality/aging  respiratory system  skeleton 

    Find genes that share phenotypes with MIA3           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for MIA3

    Transcription Factor Targeting: 
    Selected GeneGlobe predicted Target genes for MIA3 (see all 1090):
    A1CF,  AASDHPPT,  ABCB8,  ABLIM1,  ACAA2,  ACAD8,  ACCS,  ACN9,  ACOT1,  ACOT2

    miRNA
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    miRTarBase miRNAs that target MIA3:
    hsa-mir-26b-5p (MIRT029370)

    Block miRNA regulation of human, mouse, rat MIA3 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate MIA3 (see all 54):
    hsa-miR-21* hsa-miR-3164 hsa-miR-323-3p hsa-miR-607 hsa-miR-3146 hsa-miR-1245 hsa-miR-25 hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidMIA3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MIA3

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: MIA3 (NM_198551)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MIA3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MIA3

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MIA3


    (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
    MIA3_HUMAN, Q5JRA6: Endoplasmic reticulum membrane; Single-pass type I membrane protein. Note=Localizes at
    endoplasmic reticulum exit sites. After loading of COL7A1 into transport carriers, it is not incorporated into
    COPII carriers and remains in the endoplasmic reticulum membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    cytosol1
    extracellular1
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane IDA19269366
    GO:0016021integral component of membrane IDA19269366

    Find genes that share ontologies with MIA3           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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    2 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for MIA3
        AHR Pathway
    HIF1Alpha Pathway


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for MIA3
    Interactions:

        Search GeneGlobe Interaction Network for MIA3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 6)

    Selected Interacting proteins for MIA3 (Q5JRA61, 2, 3 ENSP000003409004) via UniProtKB, MINT, STRING, and/or I2D (see all 8)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COL7A1Q023881, 2, 3, ENSP000003323714EBI-2291868,EBI-724237 MINT-7217948 MINT-7217938 MINT-7217905 MINT-7217969 MINT-7217990 MINT-7217980 MINT-7217958 I2D: score=2 STRING: ENSP00000332371
    SEC23AQ154362, 3, ENSP000003068814MINT-7217893 I2D: score=1 STRING: ENSP00000306881
    SEC24CP539922, 3, ENSP000003218454MINT-7217922 I2D: score=1 STRING: ENSP00000321845
    MINOS1Q5TGZ03, ENSP000003255624I2D: score=1 STRING: ENSP00000325562
    CACNA1AO005553I2D: score=1 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002063chondrocyte development IEA--
    GO:0002687positive regulation of leukocyte migration IDA17726152
    GO:0006887exocytosis IMP19269366
    GO:0007162negative regulation of cell adhesion IDA17726152
    GO:0015031protein transport IMP19269366

    Find genes that share ontologies with MIA3           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 MIA3



    (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 MIA3 gene: 
    NM_198551.2  

    Unigene Cluster for MIA3:

    Melanoma inhibitory activity family, member 3
    Hs.118474  [show with all ESTs]
    Unigene Representative Sequence: NM_198551
    13 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000344922(uc009xea.1 uc001hnl.3 uc001hnm.3) ENST00000470521
    ENST00000344507 ENST00000354906 ENST00000340535 ENST00000495210 ENST00000467190
    ENST00000476400 ENST00000475451 ENST00000479370 ENST00000450260 ENST00000477519
    ENST00000344441
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate MIA3 (see all 54):
    hsa-miR-21* hsa-miR-3164 hsa-miR-323-3p hsa-miR-607 hsa-miR-3146 hsa-miR-1245 hsa-miR-25 hsa-miR-30d
    SwitchGear 3'UTR luciferase reporter plasmidMIA3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MIA3
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    GenScript: all cDNA clones in your preferred vector: MIA3 (NM_198551)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MIA3
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MIA3
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for MIA3
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat MIA3
      QuantiTect SYBR Green Assays in human, mouse, rat MIA3
      QuantiFast Probe-based Assays in human, mouse, rat MIA3

    Additional mRNA sequence: 

    AK025122.1 AK025506.1 AK026489.1 AK096526.1 AK290335.1 AK296712.1 AK307412.1 AY359091.1 
    BC031805.1 BC047116.1 D87742.1 DQ166034.1 L34688.1 

    22 DOTS entries:

    DT.100030191  DT.100797779  DT.95238479  DT.40132318  DT.99942138  DT.121395400  DT.95165351  DT.100797778 
    DT.121395386  DT.118949  DT.91777140  DT.121395342  DT.121395352  DT.100797777  DT.95325611  DT.91777143 
    DT.91886157  DT.95165331  DT.95239479  DT.99941461  DT.102834231  DT.97797499 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for MIA3 (see all 12)    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b · 8c ^ 9a · 9b · 9c · 9d ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b ^ 16 ^ 17a · 17b ^ 18 ^ 19a ·
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                                                                                                                                                            
    SP4:                    -     -     -           -     -     -                                                                                                   
    SP5:                                                                                                                                                            

    ExUns: 19b ^ 20 ^ 21 ^ 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28a · 28b ^ 29
    SP1:                                                        -                     
    SP2:                                                        -                     
    SP3:                                                                              
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for MIA3

    (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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    MIA3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATTTCCATT
    MIA3 Expression
    About this image


    MIA3 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 4 entries
             Cerebral Cortex
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Ovary (Reproductive System)
             Oviduct
     
     Stomach (Gastrointestinal Tract)
    MIA3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MIA3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.118474

    UniProtKB/Swiss-Prot: MIA3_HUMAN, Q5JRA6
    Tissue specificity: Broadly expressed, except in bone marrow and peripheral blood mononuclear cells.
    Down-regulated in melanoma tissue

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MIA3

    (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 animals.

    Orthologs for MIA3 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Mia31 , 5 melanoma inhibitory activity 31, 5 75.82(n)1
    66.29(a)1
      15
    3383661  NM_177389.31  NP_796363.21 
     1833267255 
    chicken
    (Gallus gallus)
    Aves MIA36
    Gallus gallus melanoma inhibitory activity family,...
    38(a)
    1 ↔ 1
    3(17371164-17396662)
    lizard
    (Anolis carolinensis)
    Reptilia MIA36
    melanoma inhibitory activity family, member 3
    38(a)
    1 ↔ 1
    1(244423968-244469048)
    zebrafish
    (Danio rerio)
    Actinopterygii mia36
    melanoma inhibitory activity family, member 3
    27(a)
    1 ↔ 1
    20(52097283-52170673) ENSDARG00000008184
    fruit fly
    (Drosophila melanogaster)
    Insecta Tango16
    Transport and Golgi organization 1
    19(a)
    1 → many
    2L(6649388-6654574)


    ENSEMBL Gene Tree for MIA3 (if available)
    TreeFam Gene Tree for MIA3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MIA3 gene
    CTAGE42  MIA22  CTAGE62  CTAGE52  CTAGE92  CTAGE12  ENSG000002589412  CTAGE82  
    3 SIMAP similar genes for MIA3 using alignment to 4 protein entries:     MIA3_HUMAN (see all proteins):
    OTOR    MIA    CTAGE5

    Find genes that share paralogs with MIA3           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for MIA3
    PGOHUM00000251382


    (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 MIA3 (see all 1037)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1832704631,2
    --193463456(+) TCTGCA/CGTGAC 1 -- us2k10--------
    rs1509004591,2
    --193463544(+) TTGATA/GAATAT 1 -- us2k10--------
    rs781713781,2
    C,F--222789458(+) AATGGT/CCTCAT 1 -- us2k11Minor allele frequency- C:0.02EA 120
    rs1394771901,2
    --222789491(+) TTATCA/GTTGTA 1 -- us2k10--------
    rs1160451121,2
    C,F--222789714(+) AGAAAA/GAGATA 1 -- us2k11Minor allele frequency- G:0.01NA 120
    rs1496643201,2
    --222789850(+) TTGTCC/TGTGAC 1 -- us2k10--------
    rs1454393631,2
    --222789868(+) AATGTA/GTATTT 1 -- us2k10--------
    rs1457248911,2
    C--222790001(+) CCACA-/TTCT  
            
    TTCTT
    1 -- us2k10--------
    rs731229001,2
    C,F--222790020(+) TTTTAA/GGTAAT 1 -- us2k12Minor allele frequency- G:0.05WA 120
    rs670832681,2
    C--222790141(+) CAGGG-/CTGGAGAGCAT
    TGTAGCCACTCTT
    CTGGA
    1 -- us2k10--------

    HapMap Linkage Disequilibrium report for MIA3 (222791428 - 222841354 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for MIA3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2603048CNV Deletion19546169
    nsv873205CNV Loss21882294

    Human Gene Mutation Database (HGMD): MIA3
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MIA3
    DNA2.0 Custom Variant and Variant Library Synthesis for MIA3

    (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: 613455    OMIM disorders: --


    Find genes that share disorders with MIA3           About GenesLikeMe

    Genetic Association Database (GAD): MIA3
    Human Genome Epidemiology (HuGE) Navigator: MIA3 (9 documents)

    Export disorders for MIA3 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 MIA3 gene, integrated from 10 sources (see all 38):
    (articles sorted by number of sources associating them with MIA3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization and expression pattern of the novel MIA homolog TANGO. (PubMed id 15183315)1, 2, 3 Bosserhoff A.K.... Buettner R. (Gene Expr. Patterns 2004)
    2. Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. (PubMed id 21378990)1, 4 Schunkert H....Samani N.J. (Nat. Genet. 2011)
    3. Additive effect of multiple genetic variants on the risk of coronary artery disease. (PubMed id 20738937)1, 4 LluA-s-Ganella C....Elosua R. (Rev Esp Cardiol 2010)
    4. Genetic variants identified in a European genome-wide association study that were found to predict incident coronary heart disease in the atherosclerosis risk in communities study. (PubMed id 19955471)1, 4 Bressler J....Boerwinkle E. (Am. J. Epidemiol. 2010)
    5. A multilocus genetic risk score for coronary heart disease: case-control and prospective cohort analyses. (PubMed id 20971364)1, 4 Ripatti S....Kathiresan S. (Lancet 2010)
    6. 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)
    7. Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. (PubMed id 19198609)1, 4  ....Altshuler D. (Nat. Genet. 2009)
    8. TANGO1 facilitates cargo loading at endoplasmic reticulum exit sites. (PubMed id 19269366)1, 2 Saito K.... Malhotra V. (Cell 2009)
    9. Genetic analysis of coronary artery disease single-nucleotide polymorphisms in diabetic nephropathy. (PubMed id 19336575)1, 4 McKnight A.J....Savage D.A. (Nephrol. Dial. Transplant. 2009)
    10. Genomewide association analysis of coronary artery disease. (PubMed id 17634449)1, 4 Samani N.J....Schunkert H. (N. Engl. J. Med. 2007)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 375056 HGNC: 24008 Ensembl:ENSG00000154305 euGenes: HUgn375056 ECgene: MIA3
    H-InvDB: MIA3

    (According to HUGE)
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    HUGE: KIAA0268

    (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 MIA3 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MIA3 gene:
    Search GeneIP for patents involving MIA3

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



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