MIA2 Gene Summary [Human]

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]

Details

Type
Protein Coding
Official Symbol
MIA2
Official Name
MIA SH3 domain ER export factor 2 [Source:HGNC Symbol;Acc:HGNC:18432]
Ensembl ID
ENSG00000150527
Bio databases IDs NCBI: 4253 Ensembl: ENSG00000150527
Aliases MIA SH3 domain ER export factor 2, TANGO1-like
Synonyms CTAGE5, D12Bwg0579e, MEA6, MGEA, MGEA6, MIA SH3 domain ER export factor 2, TALI
Species
Human, Homo sapiens
OrthologiesMouseRat

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MIA2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Mitotic checkpoint protein
  • Autophagy protein 16 (ATG16)
  • cargo receptor activity
  • Hyaluronan mediated motility receptor N-terminal
  • coiled-coil domain
  • protein binding
  • Calcium binding and coiled-coil domain (CALCOCO1) like
  • enzyme activator activity
  • proline rich domain
  • transmembrane receptor
  • Src Homology 3 domain superfamily

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • impaired glucose tolerance
  • melanoma
  • melanoma cancer
  • skin cancer
  • cutaneous T-cell lymphoma
  • T-cell non-Hodgkin disease
  • mature T-cell neoplasia
regulated by
regulates
  • DDIT3
  • HSPA5
  • cholesterol
  • guanosine triphosphate
  • triacylglycerol
  • HDL/cholesterol
  • LDL/cholesterol
  • insulin
  • SEC23A
  • SAR1
role in cell
  • growth
  • quantity
  • density
  • outgrowth
  • outgrowth in
  • cargo loading in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Cytoplasm
  • Extracellular Space
  • perinuclear region
  • cellular membrane
  • Endoplasmic Reticulum
  • cytosol
  • endoplasmic reticulum membrane
  • endoplasmic reticulum exit sites
  • plasma

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human MIA2 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • ER to Golgi vesicle-mediated transport
  • cargo loading into vesicle
  • protein secretion

Cellular Component

Where in the cell the gene product is active
  • endoplasmic reticulum membrane
  • membrane
  • endoplasmic reticulum exit site
  • endoplasmic reticulum

Molecular Function

What the gene product does at the molecular level
  • protein binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.