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Aliases for MIA2 Gene

Aliases for MIA2 Gene

  • Melanoma Inhibitory Activity 2 2 3 5
  • Meningioma Expressed Antigen 6 (Coiled-Coil Proline-Rich) 3
  • Cutaneous T-Cell Lymphoma-Associated Antigen 5 3
  • CTAGE Family Member 5, ER Export Factor 3
  • Melanoma Inhibitory Activity Protein 2 3
  • Meningioma-Expressed Antigen 6/11 3
  • CTAGE Family, Member 5 3
  • CTAGE Family Member 5 3
  • Protein CTAGE-5 3
  • TANGO1-Like 2
  • MGEA11 3
  • CTAGE5 3
  • MGEA6 3
  • MGEA 3
  • MEA6 3

External Ids for MIA2 Gene

Previous GeneCards Identifiers for MIA2 Gene

  • GC14P037083
  • GC14M033560
  • GC14P037693
  • GC14P038772
  • GC14P039703
  • GC14P019817
  • GC14P039230

Summaries for MIA2 Gene

Entrez Gene Summary for MIA2 Gene

  • This gene encodes s receptor in the endoplasmic reticulum, which plays a role in the export of large pre-chylomicrons and pre-very low density lipoproteins (pre-VLDLs). 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 (TANGO1-like or TALI). Additionally, alternative splicing in these transcripts results in multiple transcript variants encoding multiple isoforms. [provided by RefSeq, Sep 2016]

GeneCards Summary for MIA2 Gene

MIA2 (Melanoma Inhibitory Activity 2) is a Protein Coding gene. Among its related pathways are Transport to the Golgi and subsequent modification and Vesicle-mediated transport. An important paralog of this gene is ENSG00000258941.

UniProtKB/Swiss-Prot for MIA2 Gene

  • Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum. Isoform 1 plays a role in the secretion of lipoproteins, pre-chylomicrons and pre-VLDLs, by participating in their export from the endoplasmic reticulum (PubMed:27138255). Thereby, may play a role in cholesterol and triglyceride homoestasis (By similarity).

Gene Wiki entry for MIA2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MIA2 Gene

Genomics for MIA2 Gene

Regulatory Elements for MIA2 Gene

Enhancers for MIA2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH14F039299 0.4 FANTOM5 2 +33.9 33883 0.2 NBN MIA2 PNN GC14M039196 GC14P039309
GH14F039247 0.6 Ensembl ENCODE 0.3 -17.8 -17829 0.5 YBX1 ENSG00000258941 MIA2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MIA2 on UCSC Golden Path with GeneCards custom track

Promoters for MIA2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001456827 1828 3801 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for MIA2 Gene

Chromosome:
14
Start:
39,265,272 bp from pter
End:
39,351,193 bp from pter
Size:
85,922 bases
Orientation:
Plus strand

Genomic View for MIA2 Gene

Genes around MIA2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MIA2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MIA2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MIA2 Gene

Proteins for MIA2 Gene

  • Protein details for MIA2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96PC5-MIA2_HUMAN
    Recommended name:
    Melanoma inhibitory activity protein 2
    Protein Accession:
    Q96PC5
    Secondary Accessions:
    • A1L4H0
    • Q9H6C1

    Protein attributes for MIA2 Gene

    Size:
    1412 amino acids
    Molecular mass:
    159836 Da
    Quaternary structure:
    • Isoform 1 may interact with APOB and MIA3 (PubMed:27138255). Isoform 1 may interact with the COPII coat subunits SEC23A and SEC24C (By similarity).
    SequenceCaution:
    • Sequence=AAL26990.2; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=BAB15339.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for MIA2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MIA2 Gene

Post-translational modifications for MIA2 Gene

  • Glycosylation at Asn 59 and Asn 368
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for MIA2 Gene

Domains & Families for MIA2 Gene

Gene Families for MIA2 Gene

Protein Domains for MIA2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for MIA2 Gene

Graphical View of Domain Structure for InterPro Entry

Q96PC5

UniProtKB/Swiss-Prot:

MIA2_HUMAN :
  • The proline-rich domain (PRD) probably mediates interaction with the COPII coat subunits.
  • Belongs to the MIA/OTOR family.
Domain:
  • The proline-rich domain (PRD) probably mediates interaction with the COPII coat subunits.
  • Contains 1 SH3 domain.
Family:
  • Belongs to the MIA/OTOR family.
genes like me logo Genes that share domains with MIA2: view

Function for MIA2 Gene

Molecular function for MIA2 Gene

UniProtKB/Swiss-Prot Function:
Plays a role in the transport of cargos that are too large to fit into COPII-coated vesicles and require specific mechanisms to be incorporated into membrane-bound carriers and exported from the endoplasmic reticulum. Isoform 1 plays a role in the secretion of lipoproteins, pre-chylomicrons and pre-VLDLs, by participating in their export from the endoplasmic reticulum (PubMed:27138255). Thereby, may play a role in cholesterol and triglyceride homoestasis (By similarity).

Gene Ontology (GO) - Molecular Function for MIA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21525241
GO:0008047 enzyme activator activity TAS 9356211
genes like me logo Genes that share ontologies with MIA2: view

Phenotypes for MIA2 Gene

GenomeRNAi human phenotypes for MIA2:
genes like me logo Genes that share phenotypes with MIA2: view

Animal Model Products

miRNA for MIA2 Gene

miRTarBase miRNAs that target MIA2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MIA2 Gene

Localization for MIA2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MIA2 Gene

Isoform 1: Endoplasmic reticulum membrane; Single-pass membrane protein. Note=Endoplasmic reticulum exit sites. {ECO:0000269 PubMed:21807889}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MIA2 gene
Compartment Confidence
endoplasmic reticulum 5
extracellular 2
mitochondrion 2

Gene Ontology (GO) - Cellular Components for MIA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005789 endoplasmic reticulum membrane IEA,TAS --
GO:0016020 membrane IEA,IDA 19946888
GO:0016021 integral component of membrane IEA --
GO:0070971 endoplasmic reticulum exit site IDA 21525241
genes like me logo Genes that share ontologies with MIA2: view

Pathways & Interactions for MIA2 Gene

genes like me logo Genes that share pathways with MIA2: view

Interacting Proteins for MIA2 Gene

STRING Interaction Network Preview (showing 1 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000280082%0d%0a9606.ENSP00000313829%0d%0a
Selected Interacting proteins: ENSP00000280082 Q96PC5-MIA2_HUMAN for MIA2 Gene via STRING IID

Gene Ontology (GO) - Biological Process for MIA2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006888 ER to Golgi vesicle-mediated transport TAS --
GO:0032527 protein exit from endoplasmic reticulum IMP 21525241
GO:0035459 cargo loading into vesicle IMP 27170179
GO:0042632 cholesterol homeostasis IEA --
GO:0043085 positive regulation of catalytic activity IEA --
genes like me logo Genes that share ontologies with MIA2: view

No data available for SIGNOR curated interactions for MIA2 Gene

Transcripts for MIA2 Gene

Unigene Clusters for MIA2 Gene

CTAGE family, member 5:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MIA2 Gene

No ASD Table

Relevant External Links for MIA2 Gene

GeneLoc Exon Structure for
MIA2
ECgene alternative splicing isoforms for
MIA2

Expression for MIA2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for MIA2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MIA2 Gene

This gene is overexpressed in Liver (x21.0), Kidney - Cortex (x8.5), Pancreas (x6.8), and Small Intestine - Terminal Ileum (x6.7).

Protein differential expression in normal tissues from HIPED for MIA2 Gene

This gene is overexpressed in Lymph node (27.7), Uterus (8.9), Esophagus (7.6), and Rectum (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for MIA2 Gene



NURSA nuclear receptor signaling pathways regulating expression of MIA2 Gene:

MIA2

SOURCE GeneReport for Unigene cluster for MIA2 Gene:

Hs.540038

mRNA Expression by UniProt/SwissProt for MIA2 Gene:

Q96PC5-MIA2_HUMAN
Tissue specificity: Highly expressed in liver and weakly in testis. Expression was higher in patients with severe fibrosis or inflammation and chronic hepatitis (PubMed:12586826). Isoform 1 is specifically expressed in lung, testis, small intestine, colon, pancreas, kidney, liver and prostate (PubMed:27138255).
genes like me logo Genes that share expression patterns with MIA2: view

Primer Products

No data available for Protein tissue co-expression partners for MIA2 Gene

Orthologs for MIA2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MIA2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MIA2 35
  • 100 (a)
OneToOne
CTAGE5 34
  • 99.55 (n)
dog
(Canis familiaris)
Mammalia CTAGE5 34
  • 90.87 (n)
-- 35
  • 10 (a)
ManyToMany
cow
(Bos Taurus)
Mammalia CTAGE5 34
  • 88.49 (n)
MIA2 35
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia LOC100912115 34
  • 83.55 (n)
mouse
(Mus musculus)
Mammalia Ctage5 34 16
  • 83.31 (n)
Mia2 35
  • 58 (a)
OneToOne
chicken
(Gallus gallus)
Aves MIA2 34
  • 70.56 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia ctage5 34
  • 58.43 (n)
Str.4085 34
zebrafish
(Danio rerio)
Actinopterygii ctage5 34
  • 54.46 (n)
zgc56047 34
fruit fly
(Drosophila melanogaster)
Insecta Tango1 35
  • 5 (a)
OneToMany
Species where no ortholog for MIA2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MIA2 Gene

ENSEMBL:
Gene Tree for MIA2 (if available)
TreeFam:
Gene Tree for MIA2 (if available)

Paralogs for MIA2 Gene

(3) SIMAP similar genes for MIA2 Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with MIA2: view

Variants for MIA2 Gene

Sequence variations from dbSNP and Humsavar for MIA2 Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
VAR_036460 A breast cancer sample
rs75318507 Benign 39,314,801(+) GCAGG(-/TA)TATAT splice-donor-variant
rs10129351 -- 39,246,582(+) ATAGT(A/G)ACAGC intron-variant
rs10130008 -- 39,321,845(+) aacct(C/G)tgcct intron-variant
rs10130117 -- 39,264,003(+) caagg(G/T)ttgat intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for MIA2 Gene

Variant ID Type Subtype PubMed ID
esv3308013 CNV mobile element insertion 20981092
esv3382801 CNV insertion 20981092
esv3584293 CNV gain 25503493
nsv1053133 CNV gain 25217958
nsv84871 CNV deletion 16902084

Variation tolerance for MIA2 Gene

Residual Variation Intolerance Score: 84.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.60; 78.11% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MIA2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MIA2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MIA2 Gene

Disorders for MIA2 Gene

Relevant External Links for MIA2

Genetic Association Database (GAD)
MIA2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MIA2

No disorders were found for MIA2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for MIA2 Gene

Publications for MIA2 Gene

  1. TANGO1 and Mia2/cTAGE5 (TALI) cooperate to export bulky pre- chylomicrons/VLDLs from the endoplasmic reticulum. (PMID: 27138255) Santos A.J. … Malhotra V. (J. Cell Biol. 2016) 2 3 4 64
  2. Specific expression and regulation of the new melanoma inhibitory activity-related gene MIA2 in hepatocytes. (PMID: 12586826) Bosserhoff A.K. … Hellerbrand C. (J. Biol. Chem. 2003) 2 3 4 64
  3. An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome. (PMID: 24275569) Bian Y. … Zou H. (J. Proteomics 2014) 3 4 64
  4. Reduced cholesterol and triglycerides in mice with a mutation in Mia2, a liver protein that localizes to ER exit sites. (PMID: 21807889) Pitman J.L. … Gekakis N. (J. Lipid Res. 2011) 3 4 64
  5. The consensus coding sequences of human breast and colorectal cancers. (PMID: 16959974) Sjoeblom T. … Velculescu V.E. (Science 2006) 3 4 64

Products for MIA2 Gene

Sources for MIA2 Gene

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