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FLASH GENE

Symbol

ALG2

contributors: mct/npt - updated : 20-11-2009

HGNC name	asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae)
HGNC id	23159

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CDG1I congenital disorder of glycosylation, type 1I CMSAL2 congenital myasthenic syndrome with ALG2 deficiency
Location	9q22.33      Physical location : 101.978.707 - 101.984.246
Synonym name	asparagine-linked glycosylation 2 homolog (yeast, alpha-1,3-mannosyltransferase)
	asparagine-linked glycosylation 2
	GDP-Man:Man(1)GlcNAc(2)-PP-dolichol mannosyltransferase
	homolog of yeast ALG2
Synonym symbol(s)	CDGIi, hALPG2, FLJ14511, NET38
EC.number	2.4.1.-

DNA

TYPE	functioning gene
STRUCTURE	5.54 kb     2 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_033087 2 - 2834 NP_149078 47 416 - Clark, Okumura (2009) isoform 1

EXPRESSION

Type	ubiquitous

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 intestine large intestine colon   highly Reproductive male system prostate     highly Respiratory respiratory tract trachea     highly Urinary kidney       highly Visual eye retina

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	glycosyltransferase group 1 domain
	five EF-hand calcium domains

HOMOLOGY

interspecies

ortholog to murine Alg2

Homologene

FAMILY

glycosyltransferase 1 family

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,nucleus
text	in addition to its presence in the nucleus, ALG-2 was found to be distributed in a punctate pattern in the cytoplasm, where it was partly co-stained with an endoplasmic reticulum (ER) exit site marker p125 (Shibata 2007)

basic FUNCTION	acting as an alpha 1-3 mannosyltransferase
	prior to its lumenal translocation and transfer to nascent glycoproteins, involved in mannosylation of Man(5)GlcNAc(2)-PP-dolichol (Gao 2004)
	functions as a Ca2+-dependent adaptor that bridges PDCD6IP and TSG101 (Okumura 2009)
	has an anti-apoptotic function in HeLa cells by facilitating the passage through checkpoints in the G2/M cell cycle phase (Hoj 2009)
	recruited to ER exit sites via Ca(2+)-dependent interaction with SEC31A and in turn stabilizes the localization of SEC31A at these sites (Yamasaki 2006)

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

carbohydrate

signaling

	glycosylation
	with PDCD6IP, are new actors of the TNFRSF1A pathway (Mahul-Mellier 2008)

a component

INTERACTION

DNA

RNA

small molecule

protein	interaction between ALG1, ALG2, ALG11 (an additional level of regulation that ensures the fidelity of complex oligosaccharide structures involves the physical association of the related catalytic enzymes in the ER membrane)(Gao 2004)
	interaction with PDCD6IP, TSG101 (PDCD6IP and TSG101, known to physically interact with each other, have Pro-rich regions that are bound by ALG2 Ca2+-dependently)(Okumura 2009)
	Scotin (SHISA5) is a ALG2 target protein ( binding of ALG22 to Scotin was demonstrated to be strictly calcium dependent indicating a role of this interaction in calcium signaling pathways)(Draeby 2007)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CDG1I , CMSAL2

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in lung cancer tissue (la Cour 2008)

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS