MIA2 gene

MIA SH3 domain ER export factor 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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).

From UniProt:

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

Cytogenetic Location: 14q21.1, which is the long (q) arm of chromosome 14 at position 21.1

Molecular Location: base pairs 39,233,915 to 39,388,522 on chromosome 14 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 14q21.1, which is the long (q) arm of chromosome 14 at position 21.1
  • CTAGE5
  • MEA6
  • MGEA
  • MGEA6
  • MGEA11
  • TALI