MIA2 (MIA SH3 domain ER export factor 2)

2003-12-01  

Identity

HGNC
MIA2
LOCATION
14q21.1
LOCUSID
4253
ALIAS
CTAGE5,MEA6,MGEA,MGEA11,MGEA6,TALI
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4253
MIM: 602132
HGNC: 18432
Ensembl: ENSG00000150527

Variants:

dbSNP: 4253
ClinVar: 4253
TCGA: ENSG00000150527
COSMIC: MIA2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000150527ENST00000280082Q96PC5
ENSG00000150527ENST00000280083Q96PC5
ENSG00000150527ENST00000341502Q96PC5
ENSG00000150527ENST00000341749Q96PC5
ENSG00000150527ENST00000348007Q96PC5
ENSG00000150527ENST00000396158Q96PC5
ENSG00000150527ENST00000396165Q96PC5
ENSG00000150527ENST00000553352Q96PC5
ENSG00000150527ENST00000553728G3V599
ENSG00000150527ENST00000554392G3V3C4
ENSG00000150527ENST00000555716G3V5K6
ENSG00000150527ENST00000556148Q96PC5
ENSG00000150527ENST00000557038Q96PC5
ENSG00000150527ENST00000557148G3V4M1
ENSG00000150527ENST00000640607Q96PC5

Pathways

PathwaySourceExternal ID
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Asparagine N-linked glycosylationREACTOMER-HSA-446203
Transport to the Golgi and subsequent modificationREACTOMER-HSA-948021
ER to Golgi Anterograde TransportREACTOMER-HSA-199977
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Cargo concentration in the ERREACTOMER-HSA-5694530

References

Pubmed IDYearTitleCitations
295132182018TANGO1 builds a machine for collagen export by recruiting and spatially organizing COPII, tethers and membranes.57
295132182018TANGO1 builds a machine for collagen export by recruiting and spatially organizing COPII, tethers and membranes.57
271701792016Dual function of cTAGE5 in collagen export from the endoplasmic reticulum.18
275510912016TANGO1/cTAGE5 receptor as a polyvalent template for assembly of large COPII coats.52
271701792016Dual function of cTAGE5 in collagen export from the endoplasmic reticulum.18
275510912016TANGO1/cTAGE5 receptor as a polyvalent template for assembly of large COPII coats.52
256570292015A common genetic variation of melanoma inhibitory activity-2 labels a subtype of pancreatic adenocarcinoma with high endoplasmic reticulum stress levels.15
256570292015A common genetic variation of melanoma inhibitory activity-2 labels a subtype of pancreatic adenocarcinoma with high endoplasmic reticulum stress levels.15
252020312014Concentration of Sec12 at ER exit sites via interaction with cTAGE5 is required for collagen export.55
252020312014Concentration of Sec12 at ER exit sites via interaction with cTAGE5 is required for collagen export.55
230545912013Analysis of the CTAGE5 P521A variation with the risk of familial idiopathic basal ganglia calcification in an Iranian population.2
235115602013Protumoral roles of melanoma inhibitory activity 2 in oral squamous cell carcinoma.11
230545912013Analysis of the CTAGE5 P521A variation with the risk of familial idiopathic basal ganglia calcification in an Iranian population.2
235115602013Protumoral roles of melanoma inhibitory activity 2 in oral squamous cell carcinoma.11
208389282011Population and computational analysis of the MGEA6 P521A variation as a risk factor for familial idiopathic basal ganglia calcification (Fahr's disease).10

Citation

Dessen P

MIA2 (MIA SH3 domain ER export factor 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/41363/mia2