MIA2 - MIA SH3 domain ER export factor 2 Gene
Also Known as MEA6; MGEA; TALI; MGEA6; CTAGE5; MGEA11
生物種: Homo sapiens
About MIA2
This gene has 19 transcripts (splice variants), 131 orthologues and 10 paralogues. Ubiquitous expression in small intestine (RPKM 22.6), duodenum (RPKM 22.5) and 25 other tissues.
Summary
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]
MIA2 Products (30)
| mRNA | Protein | Name |
|---|---|---|
| NM_001247988.1 | NP_001234917.1 | melanoma inhibitory activity protein 2 isoform 5 |
| NM_001247989.2 | NP_001234918.1 | melanoma inhibitory activity protein 2 isoform 6 |
| NM_001247990.2 | NP_001234919.1 | melanoma inhibitory activity protein 2 isoform 7 |
| NM_001329214.4 | NP_001316143.1 | melanoma inhibitory activity protein 2 isoform 8 precursor |
| NM_001354137.2 | NP_001341066.1 | melanoma inhibitory activity protein 2 isoform 4 |
| NM_001354138.1 | NP_001341067.1 | melanoma inhibitory activity protein 2 isoform 4 |
| NM_001354139.2 | NP_001341068.1 | melanoma inhibitory activity protein 2 isoform 5 |
| NM_001354140.2 | NP_001341069.1 | melanoma inhibitory activity protein 2 isoform 10 |
| NM_001354141.2 | NP_001341070.1 | melanoma inhibitory activity protein 2 isoform 10 |
| NM_001354142.1 | NP_001341071.1 | melanoma inhibitory activity protein 2 isoform 11 |
| NM_001354143.1 | NP_001341072.1 | melanoma inhibitory activity protein 2 isoform 11 |
| NM_001354144.2 | NP_001341073.1 | melanoma inhibitory activity protein 2 isoform 11 |
| NM_001354145.2 | NP_001341074.1 | melanoma inhibitory activity protein 2 isoform 12 |
| NM_001354146.2 | NP_001341075.1 | melanoma inhibitory activity protein 2 isoform 13 |
| NM_001354147.1 | NP_001341076.1 | melanoma inhibitory activity protein 2 isoform 14 |
| NM_001354148.1 | NP_001341077.1 | melanoma inhibitory activity protein 2 isoform 15 |
| NM_001354149.1 | NP_001341078.1 | melanoma inhibitory activity protein 2 isoform 16 |
| NM_001354150.2 | NP_001341079.1 | melanoma inhibitory activity protein 2 isoform 17 |
| NM_001354151.2 | NP_001341080.1 | melanoma inhibitory activity protein 2 isoform 18 |
| NM_001354152.3 | NP_001341081.1 | melanoma inhibitory activity protein 2 isoform 19 |
| NM_001354153.2 | NP_001341082.1 | melanoma inhibitory activity protein 2 isoform 20 |
| NM_001354154.2 | NP_001341083.1 | melanoma inhibitory activity protein 2 isoform 21 |
| NM_001354155.2 | NP_001341084.1 | melanoma inhibitory activity protein 2 isoform 22 |
| NM_001354156.2 | NP_001341085.1 | melanoma inhibitory activity protein 2 isoform 23 |
| NM_001354157.2 | NP_001341086.1 | melanoma inhibitory activity protein 2 isoform 24 |
| NM_005930.4 | NP_005921.2 | melanoma inhibitory activity protein 2 isoform 1 |
| NM_054024.4 | NP_473365.3 | melanoma inhibitory activity protein 2 isoform 9 precursor |
| NM_203354.3 | NP_976229.1 | melanoma inhibitory activity protein 2 isoform 2 |
| NM_203355.3 | NP_976230.1 | melanoma inhibitory activity protein 2 isoform 3 |
| NM_203356.2 | NP_976231.1 | melanoma inhibitory activity protein 2 isoform 4 |
| Molecular Function GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| enables cargo receptor activity |
IMP
IMP: Inferred from mutant phenotype
|
27138255 | GOA |
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
21525241 | GOA |
| Biological Process GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| involved in endoplasmic reticulum to Golgi vesicle-mediated transport |
IMP
IMP: Inferred from mutant phenotype
|
27138255 | GOA |
| involved in lipoprotein transport |
IMP
IMP: Inferred from mutant phenotype
|
27138255 | GOA |
| involved in protein exit from endoplasmic reticulum |
IMP
IMP: Inferred from mutant phenotype
|
21525241 | GOA |
| involved in protein localization to endoplasmic reticulum exit site |
IMP
IMP: Inferred from mutant phenotype
|
25202031 | GOA |
| NOT involved in regulation of guanyl-nucleotide exchange factor activity |
IDA
IDA: Inferred from direct assay
|
25202031 | GOA |
| involved in vesicle cargo loading |
IMP
IMP: Inferred from mutant phenotype
|
27138255 | GOA |
| Cellular Component GO Annotation | Evidence | 参考文献 | 由来 |
|---|---|---|---|
| located in endoplasmic reticulum exit site |
IDA
IDA: Inferred from direct assay
|
21525241 | GOA |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
melanoma inhibitory activity protein 2 |
|
MIA2 Protein-protein interaction Information
|
Type
|
タンパク質名 | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | 参考文献 |
|---|---|---|---|---|---|---|---|
|
Intra
|
MIA2 | Q96PC5 | CCHCR1 | Homo sapiens | Q8TD31-3 | 25416956 | |
|
Intra
|
MIA2 | Q96PC5 | TTC23L | Homo sapiens | Q6PF05-3 | 25416956 | |
|
Intra
|
MIA2 | Q96PC5 | TTC23L | Homo sapiens | Q6PF05-3 | 25416956 | |
|
Intra
|
MIA2 | Q96PC5 | TTC23L | Homo sapiens | Q6PF05-3 | 25416956 | |
|
Intra
|
MIA2 | Q96PC5 | CEP57 | Homo sapiens | Q86XR8 | 25416956 | |
|
Intra
|
MIA2 | Q96PC5 | PSMA3 | Homo sapiens | P25788 | 25416956 | |
|
Intra
|
MIA2 | Q96PC5 | PSMA3 | Homo sapiens | P25788 | 25416956 | |
|
Intra
|
MIA2 | Q96PC5 | RASAL2 | Homo sapiens | Q9UJF2 | 25416956 | |
|
Intra
|
MIA2 | Q96PC5 | RASAL2 | Homo sapiens | Q9UJF2 | 25416956 | |
|
Intra
|
MIA2 | Q96PC5 | TLE5 | Homo sapiens | Q08117 | 25416956 | |
|
Intra
|
MIA2 | Q96PC5 | MAGEB18 | Homo sapiens | Q96M61 | 25416956 | |
|
Intra
|
MIA2 | Q96PC5 | EMILIN1 | Homo sapiens | Q9Y6C2 | 25416956 | |
|
Intra
|
MIA2 | Q96PC5 | EMILIN1 | Homo sapiens | Q9Y6C2 | 25416956 | |
|
Intra
|
MIA2 | Q96PC5 | SS18L1 | Homo sapiens | O75177 | 25416956 | |
|
Intra
|
MIA2 | Q96PC5 | SS18L1 | Homo sapiens | O75177 | 25416956 |
関連疾患
| Diseases | Alias | |
|---|---|---|
| Craniolenticulosutural Dysplasia |
|
|
| Lymphoma |
|
|
| Anemia, Congenital Dyserythropoietic, Type Ii |
|
|
| Brain Compression |
|
|
| Cystadenofibroma |
|
|
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
|
| Osteogenesis Imperfecta, Type Xix |
|
|
| Mature T-Cell And Nk-Cell Lymphoma |
|
|
| Tn Polyagglutination Syndrome |
|
|
| Psoriasis 15 |
|
|
| Cole-Carpenter Syndrome |
|
|
| Chylomicron Retention Disease |
|
|
| Amyotrophic Lateral Sclerosis Type 5 |
|
|
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
|
| Developmental And Epileptic Encephalopathy 48 |
|
|
| Benign Meningioma |
|
|
| Basal Ganglia Disease |
|
|
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
|
| Pettigrew Syndrome |
|
|
| Melanoma |
|
|
| Marinesco-Sjogren Syndrome |
|
|
| Keratosis Pilaris Atrophicans |
|
|
| Basal Ganglia Calcification |
|
|
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
|
| Keratosis Follicularis Spinulosa Decalvans |
|
|
| Autosomal Recessive Cutis Laxa Type Ii Classic Type |
|
|
| Bone Development Disease |
|
|
| Epiphyseal Dysplasia, Multiple, 1 |
|
|
| Spondyloepimetaphyseal Dysplasia With Joint Laxity |
|
|
| Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
|
| Cantu Syndrome |
|
|
| Primary Cutaneous T-Cell Non-Hodgkin Lymphoma |
|
|
| Congenital Dyserythropoietic Anemia |
|
|
| Adrenal Rest Tumor |
|
|
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
|
| Spastic Paraplegia 50, Autosomal Recessive |
|
|
| Chanarin-Dorfman Syndrome |
|
|
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
|
| Mitochondrial Complex Iii Deficiency |
|
|
| Corneal Ectasia |
|
|
| Geroderma Osteodysplasticum |
|
|
| Peripheral T-Cell Lymphoma |
|
|
| Dentinogenesis Imperfecta |
|
|
| Brittle Bone Disorder |
|
|
| Congenital Hemolytic Anemia |
|
|
| Bruck Syndrome |
|
|
| Occipital Horn Syndrome |
|
|
| Dentin Dysplasia |
|
|
| Achondrogenesis |
|
|
| Hennekam Syndrome |
|
|
| Osteochondrodysplasia |
|
|
| Cowden Syndrome |
|
|
| Maturity-Onset Diabetes Of The Young |
|
|
| Ehlers-Danlos Syndrome |
|
|
| Lymphoma, Non-Hodgkin, Familial |
|
|
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
|
| Lipid Metabolism Disorder |
|
|
| Hereditary Spastic Paraplegia |
|
|
| Charcot-Marie-Tooth Disease |
|
|
| Neuromuscular Disease |
|
|
| Nervous System Disease |
|
|
Orthologs Information
| 生物種 | Symbol | 由来 | ID |
|---|---|---|---|
| Rattus norvegicus | MIA2 | RGD | RGD:6488546 |
| Mus musculus | MIA2 | MGD | MGI:2159614 |