| Gene Information | |
|---|---|
| Gene Name | MIA2 |
| Organism | Homo sapiens (Human) |
| Gene Length | 1412 |
| Protein Names | Melanoma inhibitory activity protein 2 (MIA protein 2) (CTAGE family member 5 ER export factor) (Cutaneous T-cell lymphoma-associated antigen 5) (Meningioma-expressed antigen 6/11) |
| Target Name | NA |
| Target Type | NA |
| Gene Age | 680 ( ENSG00000150527 ) |
| Evolutionary Stage | Vertebrata |
| AlphaFoldDB | Q96PC5 |
| Gene Card | MIA2 |
| Uniprot ID | Q96PC5 |
| Pfam | PF07653 |
| In ASD | no |
| Allosteric Prediction | no (-0.5944165) |
| Ortholog in Animals | Alpaca_ MIA2 ( ortholog_one2one ) Dog_ MIA2 ( ortholog_one2many ) Macaque_ MIA2 ( ortholog_one2one ) Mouse_ Mia2 ( ortholog_one2many ) Rat_ Mia2 ( ortholog_one2many ) |
| Ohnologs | NA |
| Paralogs | CTAGE1, CTAGE8, CTAGE9, CTAGE6, CTAGE4, CTAGE15, MIA3, SPZ1, MIA, OTOR |
| Tissue | NA |
| Tissue Specificity | Highly expressed in liver and weakly in testis. Expression was higher in patients with severe fibrosis or inflammation and chronic hepatitis (PubMed:12586826). Isoform 1 is specifically expressed in lung, testis, small intestine, colon, pancreas, kidney, liver and prostate (PubMed:27138255). Isoform 8 is expressed only in testis (at the protein level). Isoform 8 (at protein level) and isoform 9 are expressed in cutaneous T-cell lymphoma (CTCL) cell lines, colorectal carcinomas, breast carcinomas and melanoma. Isoform 9, but not isoform 5A, is expressed in head and neck squamous cell carcinoma (PubMed:12839582). {ECO:0000269|PubMed:12586826, ECO:0000269|PubMed:12839582, ECO:0000269|PubMed:27138255}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | NA |
| DBSNP | rs17855896 rs10162564 rs1950952 rs17109109 rs1140952 rs1060878 rs7140561 rs7140561 rs7140561 rs7140561 rs17855895 |
| Subcellular location [CC] | Endoplasmic reticulum membrane {ECO:0000269|PubMed:21525241, ECO:0000269|PubMed:21807889, ECO:0000269|PubMed:25202031, ECO:0000269|PubMed:28442536}; Single-pass membrane protein {ECO:0000269|PubMed:21807889}. Note=Localizes to endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). {ECO:0000269|PubMed:21525241, ECO:0000269|PubMed:21807889, ECO:0000269|PubMed:25202031, ECO:0000269|PubMed:28442536}. |
| Mouse PG classification | NA |
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