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FLASH GENE

Symbol

MIA2

contributors: mct - updated : 05-12-2018

HGNC name	melanoma inhibitory activity 2
HGNC id	18432

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       specific Reproductive male system testis     lowly

cells

System Cell Pubmed Species Stage Rna symbol Digestive hepatocyte

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo

Text	liver, less than in adult liver

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a N-terminal signal sequence
	a SH3 domain
	two coiled-coil motifs and a proline-rich domain

conjugated

GlycoP

HOMOLOGY

interspecies

ortholog to murine Mia2

Homologene

FAMILY	MIA/OTOR family
	melanoma inhibitory activity (MIA) gene family

CATEGORY

regulatory , secretory

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	secreted
	specifically localizes to the endoplasmic reticulum (ER) exit sites

basic FUNCTION	may play a role in pathophysiology of liver diseases and may serve as a marker of liver damage
	MIA2 and MIA3 have a tumour-suppressive function in several malignancies
	plays a critical role in lipid transportation through the coordinated regulation of the COPII machinery
	may coordinate with SEC22B to control the release of COPII vesicles from the ER, and thereby the ER-to-Golgi trafficking of proinsulin
	plays a critical role in the secretion of proteins
	is important for brain development and function

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

inflammation

PATHWAY

metabolism

signaling

a component

MIA2 forms a complex with MIA3, a previously characterized cargo receptor for collagen VII, by the interaction of their coiled-coil motifs

INTERACTION

DNA

RNA

small molecule

protein	MIA2 acts as a coreceptor of MIA3 for collagen VII export from the ER
	PREB recruitment to ER exit sites is organized by its direct interaction with MIA2, a previously characterized collagen cargo receptor component, which functions together with MIA3 at ER exit sites
	general role for MIA3 in the export of bulky cargoes from the ER and specific requirement for MIA2 in assisting MIA3 to export bulky lipid particles
	recruitment of PREB by MIA2 contributes to efficient activation of SAR1A in the vicinity of ER exit sites
	interacts with components of the ER coat protein complex II (COPII) which, when depleted, also cause lipid accumulation in hepatocytes
	MIA3 recruits membrane-bound macromolecular complexes consisting of MIA2 and PREB to the ER exit sites
	MIA2/MIA3 complex interacts with the GEF and the GAP of SAR1A and tightly regulates its GTPase cycle to accomplish large cargo secretion
	MIA2 interacts with vesicle membrane soluble N-ethyl-maleimide sensitive factor attachment protein receptor SEC22B and this interaction with MIA2 is essential for proinsulin processing

cell & other

REGULATION

induced by

HNF1, IL-6 and TGF-beta

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --over   in liver damage, in chronic liver disease and correlates with the severity of fibrosis and inflammation in hepatitis C constitutional germinal mutation       in patients with Fahr disease

Susceptibility

to Familial idiopathic basal ganglia calcification (IBGC)

Variant & Polymorphism other	P521A variation associated with the risk of familial idiopathic basal ganglia calcification

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS