MIA2
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| MIA SH3 domain ER export factor 2 | MIM:602132 | Ensembl:ENSG00000150527 | HGNC:HGNC:18432 | PA30788 | 14q21.1 |
GO terms in MIA2
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| BP | IBA | GO:0006888 | ER to Golgi vesicle-mediated transport |
| BP | IMP | GO:0006888 | ER to Golgi vesicle-mediated transport |
| BP | TAS | GO:0006888 | ER to Golgi vesicle-mediated transport |
| BP | IBA | GO:0009306 | protein secretion |
| BP | IMP | GO:0032527 | protein exit from endoplasmic reticulum |
| BP | IBA | GO:0035459 | cargo loading into vesicle |
| BP | IMP | GO:0035459 | cargo loading into vesicle |
| BP | IEA | GO:0043085 | positive regulation of catalytic activity |
| BP | IMP | GO:0070973 | protein localization to endoplasmic reticulum exit site |
| BP | IDA | GO:1905097 | regulation of guanyl-nucleotide exchange factor activity |
| CC | IBA | GO:0005789 | endoplasmic reticulum membrane |
| CC | IEA | GO:0005789 | endoplasmic reticulum membrane |
| CC | TAS | GO:0005789 | endoplasmic reticulum membrane |
| CC | HDA | GO:0016020 | membrane |
| CC | IEA | GO:0016021 | integral component of membrane |
| CC | IBA | GO:0070971 | endoplasmic reticulum exit site |
| CC | IDA | GO:0070971 | endoplasmic reticulum exit site |
| MF | IPI | GO:0005515 | protein binding |
| MF | TAS | GO:0008047 | enzyme activator activity |
| MF | IBA | GO:0042954 | lipoprotein transporter activity |
Gene expression in normal tissue: MIA2
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in MIA2
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-199977 | ER to Golgi Anterograde Transport |
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-392499 | Metabolism of proteins |
| reactome | R-HSA-446203 | Asparagine N-linked glycosylation |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-5694530 | Cargo concentration in the ER |
| reactome | R-HSA-597592 | Post-translational protein modification |
| reactome | R-HSA-948021 | Transport to the Golgi and subsequent modification |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in MIA2
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