MIA2

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.

Full Name

melanoma inhibitory activity 2

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 (PubMed:27138255, PubMed:21525241, PubMed:25202031, PubMed:27170179).

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 homeostasis (By similarity).

Required for collagen VII (COL7A1) secretion by loading COL7A1 into transport carriers and recruiting PREB/SEC12 at the endoplasmic reticulum exit sites (PubMed:21525241, PubMed:25202031, PubMed:27170179).

Biological Process

Endoplasmic reticulum to Golgi vesicle-mediated transport Source: UniProtKB
Lipoprotein transport Source: UniProtKB
Protein exit from endoplasmic reticulum Source: UniProtKB
Protein localization to endoplasmic reticulum exit site Source: UniProtKB
Protein secretion Source: GO_Central
Vesicle cargo loading Source: UniProtKB

Cellular Location

Endoplasmic reticulum
Endoplasmic reticulum membrane
Note: Localizes to endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER).

Involvement in disease

Autoantibodies against MIA2 are present in several cancer types, including benign meningioma and cutaneous T-cell lymphoma (CTCL).