Melanoma Inhibitory Activity Protein 2

Preferred Label : Melanoma Inhibitory Activity Protein 2;

NCIt synonyms : MIA2; MIA SH3 Domain ER Export Factor 2; TANGO-Like Protein; TALI;

NCIt definition : Melanoma inhibitory activity protein 2 (1412 aa, 160 kDa) is encoded by the human MIA2 gene. This protein is involved in ER-to-Golgi transport of lipoproteins.;

NCIt note : Melanoma inhibitory activity protein 2 plays a role in the ER export and subsequent secretion of lipoproteins, pre-chylomicrons and precursors for very low-density lipoproteins (pre-VLDLs). (UniProt.); It is not clear whether the MIA2/CTAGE5 locus is comprised of one gene or two distinct genes. HGNC, EntrezGene and OMIM consider this locus to be part of the MIA2 gene (HGNC:18432).However, UniProt has separate entries for the protein products of the melanoma inhibitory activity 2-specific transcripts and cTAGE family member 5-specific transcripts. UniProt considers a product of the read-through fusion transcripts that include exons from both the MIA2 and CTAGE5 transcripts (TANGO1-like or TALI) to be the canonical form of melanoma inhibitory activity protein 2.;

Details

Origin ID

C155867;

UMLS CUI

C2351264;

Automatic exact mappings (from CISMeF team)
- MIA SH3 domain ER export factor 2 [HGNC gene]
- Mia sh3 domain er export factor 2 [OMIM gene]
OMIM relation
- Mia sh3 domain er export factor 2 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Ligand Binding Protein Gene [NCIt concept]
- MIA2 Gene [NCIt concept]
- Transport Protein Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cellular Membrane [NCIt concept]
- Membrane of the Endoplasmic Reticulum [NCIt concept]
gene_product_has_chemical_classification
- Transmembrane Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Coiled-Coil Domain [NCIt concept]
- Ligand Binding Domain [NCIt concept]
- Proline-Rich Domain [NCIt concept]
- SH3 Domain [NCIt concept]
- Transmembrane Domain [NCIt concept]
gene_product_plays_role_in_biological_process
- Ligand Binding [NCIt concept]
- Protein Secretion [NCIt concept]
- Subcellular Protein Targeting [NCIt concept]
- Transport Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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