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

Gene ID: 338320, updated on 5-Mar-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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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
  • 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. Mea6 controls VLDL transport through the coordinated regulation of COPII assembly. Wang Y, et al. Cell Res, 2016 Jul. PMID 27311593, Free PMC Article
  4. A tissue-specific atlas of mouse protein phosphorylation and expression. Huttlin EL, et al. Cell, 2010 Dec 23. PMID 21183079, Free PMC Article
  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 (35) 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
  
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 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
  
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
  
is_active_in endoplasmic reticulum membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in 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

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