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    Mia2 MIA SH3 domain ER export factor 2 [ Mus musculus (house mouse) ]

    Gene ID: 338320, updated on 2-Nov-2024

    Summary

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    Official Symbol
    Mia2provided by MGI
    Official Full Name
    MIA SH3 domain ER export factor 2provided by MGI
    Primary source
    MGI:MGI:2159614
    See related
    Ensembl:ENSMUSG00000021000 AllianceGenome:MGI:2159614
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    Mea6; Mgea; Mgea6; Ctage5; D12Bwg0579e
    Summary
    This gene encodes a protein that is involved in endoplasmic reticulum-to-Golgi trafficking and regulation of cholesterol metabolism. Three major classes of transcripts are generated from this gene- melanoma inhibitory activity 2-specific transcripts, cTAGE family member 5-specific transcripts and transcripts that include exons from both these transcript species. Additionally, alternative splicing in these transcripts results in multiple transcript variants encoding diverse isoforms. A mutation in this gene (couch-potato or cpto) may result in low levels of plasma cholesterol and triglycerides. [provided by RefSeq, Sep 2016]
    Annotation information
    Note: The annotation of this gene has been updated. It has been merged with Ctage5 (GeneID: 217615). [13 Mar 2017]
    Expression
    Biased expression in liver E18 (RPKM 3.6), placenta adult (RPKM 2.8) and 8 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Mia2 in Genome Data Viewer
    Location:
    12 26.0 cM; 12 C1
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 12 NC_000078.7 (59142368..59237006)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 12 NC_000078.6 (59095582..59190220)

    Chromosome 12 - NC_000078.7Genomic Context describing neighboring genes Neighboring gene ribosomal protein S2 pseudogene Neighboring gene ribosomal protein L21, pseudogene 3 Neighboring gene CapStarr-seq enhancer MGSCv37_chr12:60226425-60226608 Neighboring gene predicted gene, 24233 Neighboring gene STARR-seq mESC enhancer starr_32245 Neighboring gene STARR-positive B cell enhancer ABC_E9040 Neighboring gene F-box protein 33 Neighboring gene STARR-positive B cell enhancer ABC_E7137 Neighboring gene glyceraldehyde-3-phosphate dehydrogenase pseudogene

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Deletion of Mea6 in Cerebellar Granule Cells Impairs Synaptic Development and Motor Performance. Wang XT, et al. Front Cell Dev Biol, 2020. PMID 33718348, Free PMC Article
    2. MEA6 Deficiency Impairs Cerebellar Development and Motor Performance by Tethering Protein Trafficking. Wang XT, et al. Front Cell Neurosci, 2019. PMID 31244610, Free PMC Article
    3. Specific expression and regulation of the new melanoma inhibitory activity-related gene MIA2 in hepatocytes. Bosserhoff AK, et al. J Biol Chem, 2003 Apr 25. PMID 12586826
    4. Specific phosphopeptide enrichment with immobilized titanium ion affinity chromatography adsorbent for phosphoproteome analysis. Zhou H, et al. J Proteome Res, 2008 Sep. PMID 18630941
    5. Large scale localization of protein phosphorylation by use of electron capture dissociation mass spectrometry. Sweet SM, et al. Mol Cell Proteomics, 2009 May. PMID 19131326, Free PMC Article

    See all (37) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Conditional knockout of cTAGE5/MEA6 in the brain leads to severe defects in neural development, including deficits in dendrite outgrowth and branching, spine formation and maintenance, astrocyte activation, and abnormal behaviors
      Title: cTAGE5/MEA6 plays a critical role in neuronal cellular components trafficking and brain development.
    2. cTAGE5 deletion in pancreatic beta cells impairs proinsulin trafficking and insulin biogenesis in mice.
      Title: cTAGE5 deletion in pancreatic β cells impairs proinsulin trafficking and insulin biogenesis in mice.
    3. Mia2 is a novel, hepatic, endoplasmic reticulum-to-Golgi trafficking protein that regulates cholesterol metabolism.
      Title: Reduced cholesterol and triglycerides in mice with a mutation in Mia2, a liver protein that localizes to ER exit sites.
    Submit: New GeneRIF Correction

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ31229, MGC30562

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables cargo receptor activity ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables cargo receptor activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    acts_upstream_of_or_within cholesterol homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endoplasmic reticulum to Golgi vesicle-mediated transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in lipoprotein transport ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein exit from endoplasmic reticulum ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein localization to endoplasmic reticulum exit site ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in protein secretion IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within triglyceride homeostasis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in vesicle cargo loading IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in vesicle cargo loading ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in vesicle-mediated transport IEA
    Inferred from Electronic Annotation
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  
    is_active_in endoplasmic reticulum exit site IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum exit site ISO
    Inferred from Sequence Orthology
    more info
    		  
    located_in endoplasmic reticulum exit site ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    melanoma inhibitory activity protein 2
    Names
    CTAGE family member 5 ER export factor
    CTAGE family, member 5
    cutaneous T-cell lymphoma-associated antigen 5 homolog
    melanoma inhibitory activity 2
    meningioma expressed antigen 6 (coiled-coil proline-rich)
    protein cTAGE-5

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001165253.3 → NP_001158725.1  melanoma inhibitory activity protein 2 isoform 4

      Status: VALIDATED

      Description
      Transcript Variant: This variant (4) lacks several coding exons and reflects the use of an alternate internal promoter, compared to variant 1. It encodes cTAGE family member 5 protein (isoform 4), which is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC132607
      Consensus CDS
      CCDS49071.1
      UniProtKB/TrEMBL
      E9PY90, Q3TZZ3
      Related
      ENSMUSP00000126538.3, ENSMUST00000170992.9
      Conserved Domains (3) summary
      pfam06409
      Location:369 → 442
      NPIP; Nuclear pore complex interacting protein (NPIP)
      pfam10191
      Location:174 → 361
      COG7; Golgi complex component 7 (COG7)
      cl21478
      Location:143 → 242
      ATP-synt_B; ATP synthase B/B' CF(0)

    2. NM_001165254.3 → NP_001158726.1  melanoma inhibitory activity protein 2 isoform 5

      Status: VALIDATED

      Description
      Transcript Variant: This variant (5) lacks several coding exons and reflects the use of an alternate internal promoter, compared to variant 1. It encodes cTAGE family member 5 protein (isoform 5), which is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC132607
      Consensus CDS
      CCDS56840.1
      UniProtKB/TrEMBL
      H3BK44, Q3TZZ3
      Related
      ENSMUSP00000135245.2, ENSMUST00000176892.8
      Conserved Domains (3) summary
      pfam06409
      Location:358 → 431
      NPIP; Nuclear pore complex interacting protein (NPIP)
      pfam10191
      Location:163 → 350
      COG7; Golgi complex component 7 (COG7)
      cl21478
      Location:132 → 231
      ATP-synt_B; ATP synthase B/B' CF(0)

    3. NM_001329047.2 → NP_001315976.1  melanoma inhibitory activity protein 2 isoform 1 precursor

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1). This variant is based on data in PMID:21807889 and RNA-seq data.
      Source sequence(s)
      AC132607
      Consensus CDS
      CCDS88341.1
      UniProtKB/TrEMBL
      A0A1W2P711
      Related
      ENSMUSP00000151482.3, ENSMUST00000219140.3

    4. NM_001368839.1 → NP_001355768.1  melanoma inhibitory activity protein 2 isoform 6 precursor

      Status: VALIDATED

      Source sequence(s)
      AC132607
      UniProtKB/Swiss-Prot
      Q8CIE3, Q8R311, Q91ZV0
      Conserved Domains (2) summary
      COG1196
      Location:652 → 1039
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cl17036
      Location:31 → 103
      SH3; Src Homology 3 domain superfamily

    5. NM_001374760.1 → NP_001361689.1  melanoma inhibitory activity protein 2 isoform 7

      Status: VALIDATED

      Source sequence(s)
      AC132607
      Consensus CDS
      CCDS88343.1
      UniProtKB/TrEMBL
      H3BJS0, Q3TZZ3
      Related
      ENSMUSP00000135100.2, ENSMUST00000176322.8
      Conserved Domains (1) summary
      COG1196
      Location:173 → 458
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    6. NM_146034.5 → NP_666146.3  melanoma inhibitory activity protein 2 isoform 3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) lacks several 5' exons and reflects the use of an alternate internal promoter, compared to variant 1. It encodes the cTAGE family member 5 protein (isoform 3), which is shorter and has a distinct N-terminus, compared to isoform 1.
      Source sequence(s)
      AC132607
      Consensus CDS
      CCDS36458.2
      UniProtKB/TrEMBL
      E9Q3S2, Q3TZZ3
      Related
      ENSMUSP00000070572.9, ENSMUST00000069430.15
      Conserved Domains (4) summary
      pfam06409
      Location:391 → 464
      NPIP; Nuclear pore complex interacting protein (NPIP)
      pfam10191
      Location:196 → 383
      COG7; Golgi complex component 7 (COG7)
      pfam15905
      Location:101 → 437
      HMMR_N; Hyaluronan mediated motility receptor N-terminal
      cl21478
      Location:165 → 264
      ATP-synt_B; ATP synthase B/B' CF(0)

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000078.7 Reference GRCm39 C57BL/6J

      Range
      59142368..59237006
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_030246785.1 → XP_030102645.1  melanoma inhibitory activity protein 2 isoform X4

      Conserved Domains (2) summary
      COG1196
      Location:682 → 1040
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cl17036
      Location:31 → 103
      SH3; Src Homology 3 domain superfamily

    2. XM_030246782.1 → XP_030102642.1  melanoma inhibitory activity protein 2 isoform X1

      Conserved Domains (2) summary
      COG1196
      Location:690 → 1031
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cl17036
      Location:31 → 103
      SH3; Src Homology 3 domain superfamily

    3. XM_030246786.1 → XP_030102646.1  melanoma inhibitory activity protein 2 isoform X5

      Conserved Domains (2) summary
      COG1196
      Location:690 → 1031
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cl17036
      Location:31 → 103
      SH3; Src Homology 3 domain superfamily

    4. XM_030246783.1 → XP_030102643.1  melanoma inhibitory activity protein 2 isoform X2

      Conserved Domains (2) summary
      COG1196
      Location:741 → 1026
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cl17036
      Location:31 → 103
      SH3; Src Homology 3 domain superfamily

    5. XM_030246784.1 → XP_030102644.1  melanoma inhibitory activity protein 2 isoform X3

      Conserved Domains (2) summary
      COG1196
      Location:721 → 1007
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cl17036
      Location:31 → 103
      SH3; Src Homology 3 domain superfamily

    6. XM_030246787.1 → XP_030102647.1  melanoma inhibitory activity protein 2 isoform X6

      Conserved Domains (2) summary
      COG1196
      Location:721 → 1007
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      cl17036
      Location:31 → 103
      SH3; Src Homology 3 domain superfamily

    7. XM_030246796.2 → XP_030102656.1  melanoma inhibitory activity protein 2 isoform X20

      UniProtKB/TrEMBL
      H3BKL6
      Related
      ENSMUSP00000135440.2, ENSMUST00000175877.8
      Conserved Domains (1) summary
      COG1196
      Location:118 → 404
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    8. XM_030246793.2 → XP_030102653.1  melanoma inhibitory activity protein 2 isoform X17

      UniProtKB/TrEMBL
      H3BL19
      Related
      ENSMUSP00000135618.2, ENSMUST00000177225.8
      Conserved Domains (1) summary
      COG1196
      Location:87 → 428
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    9. XM_006515679.4 → XP_006515742.1  melanoma inhibitory activity protein 2 isoform X9

      UniProtKB/TrEMBL
      H3BK48, Q3TZZ3
      Related
      ENSMUSP00000135251.2, ENSMUST00000175912.8
      Conserved Domains (1) summary
      COG1196
      Location:87 → 428
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    10. XM_006515680.4 → XP_006515743.1  melanoma inhibitory activity protein 2 isoform X13

      UniProtKB/TrEMBL
      Q3TZZ3
      Conserved Domains (1) summary
      COG1196
      Location:138 → 423
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    11. XM_030246792.1 → XP_030102652.1  melanoma inhibitory activity protein 2 isoform X15

      UniProtKB/TrEMBL
      Q3TZZ3
      Conserved Domains (1) summary
      COG1196
      Location:121 → 406
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    12. XM_030246790.1 → XP_030102650.1  melanoma inhibitory activity protein 2 isoform X12

      UniProtKB/TrEMBL
      Q3TZZ3
      Conserved Domains (1) summary
      COG1196
      Location:143 → 428
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    13. XM_036157507.1 → XP_036013400.1  melanoma inhibitory activity protein 2 isoform X11

      UniProtKB/TrEMBL
      Q3TZZ3
      Conserved Domains (1) summary
      COG1196
      Location:145 → 430
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    14. XM_006515678.5 → XP_006515741.1  melanoma inhibitory activity protein 2 isoform X7

      UniProtKB/TrEMBL
      Q3TZZ3
      Conserved Domains (1) summary
      COG1196
      Location:167 → 452
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    15. XM_030246789.1 → XP_030102649.1  melanoma inhibitory activity protein 2 isoform X10

      UniProtKB/TrEMBL
      Q3TZZ3
      Conserved Domains (1) summary
      COG1196
      Location:149 → 434
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    16. XM_030246791.2 → XP_030102651.1  melanoma inhibitory activity protein 2 isoform X14

      UniProtKB/TrEMBL
      H3BL19
      Conserved Domains (1) summary
      COG1196
      Location:173 → 458
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    17. XM_036157508.1 → XP_036013401.1  melanoma inhibitory activity protein 2 isoform X16

      UniProtKB/TrEMBL
      H3BJI6, H3BL19
      Related
      ENSMUSP00000135001.2, ENSMUST00000177162.8
      Conserved Domains (1) summary
      COG1196
      Location:98 → 439
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    18. XM_030246794.2 → XP_030102654.1  melanoma inhibitory activity protein 2 isoform X18

      UniProtKB/TrEMBL
      H3BKL6
      Conserved Domains (1) summary
      COG1196
      Location:149 → 434
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    19. XM_030246795.2 → XP_030102655.1  melanoma inhibitory activity protein 2 isoform X19

      UniProtKB/TrEMBL
      H3BKL6
      Conserved Domains (1) summary
      COG1196
      Location:129 → 415
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    20. XM_030246788.2 → XP_030102648.1  melanoma inhibitory activity protein 2 isoform X8

      UniProtKB/TrEMBL
      H3BKH2, Q3TZZ3
      Related
      ENSMUSP00000135390.2, ENSMUST00000176464.8
      Conserved Domains (1) summary
      COG1196
      Location:98 → 439
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_177321.2: Suppressed sequence

      Description
      NM_177321.2: This RefSeq was removed because currently there is insufficient support that the transcript is complete.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q91ZV0.3 GenPept UniProtKB/Swiss-Prot:Q91ZV0

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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