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FLASH GENE

Symbol

POMT2

contributors: mct/npt/shn - updated : 22-09-2012

HGNC name	protein-O-mannosyltransferase 2
HGNC id	19743

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LGMD2N limb girdle muscular dystrophy 2N WLKWS2 Walker-Warburg syndrome 2
Location	14q24.3      Physical location : 77.741.298 - 77.787.225
Synonym name	dolichyl-phosphate-mannose--protein mannosyltransferase 2
	protein O-mannosyl-transferase 2
Synonym symbol(s)	FLJ22309, LGMD2N, MDDGA2, MDDGB2, MDDGC2

DNA

TYPE	functioning gene
STRUCTURE	45.93 kb     21 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

Map	cen - D14S279 - D14S983 - POMT2 - D14S254 - D14S1020 - qter

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_013382 21 - 4874 NP_037514 - 750 - -

EXPRESSION

Type

widely

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 Cardiovascular heart       moderately Homo sapiens Digestive liver       highly Homo sapiens Endocrine pancreas       highly Lymphoid/Immune spleen       lowly Homo sapiens Nervous brain       moderately Homo sapiens Reproductive male system testis         male system testis     predominantly Homo sapiens Respiratory lung       lowly Homo sapiens Urinary kidney       moderately Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Epithelial secretory glandular exocrine   Lymphoid

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

eye

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	four MIR domains
	7-transmembrane helical structure with a central hydrophilic domain flanked by 5 N-terminal and 2 C-terminal transmembrane regions

HOMOLOGY

interspecies	ortholog to Pomt2, Mus musculus
	ortholog to Pomt2, Rattus norvegicus
	ortholog to pomt2, Danio rerio
	ortholog to POMT2, Pan troglodytes

Homologene

FAMILY

glycosyltransferase family 39

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,membrane
	intracellular,cytoplasm,organelle,endoplasmic reticulum
text	an integral membrane protein of the endoplasmic reticulum membrane

basic FUNCTION	catalyzing the first step in O-glycosylation
	playing a specific role in the maturation and/or function of sperm in mammals
	POMT1 and POMT2 have discrete functions since the effect of amino acid substitutions on enzymatic activity are different
	with POMT2, are responsible for the catalysis of the first step in O-mannosyl glycan synthesis

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

text	catalysis of the first step in O-mannosyl glycan synthesis

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

Other

N-glycosylation of POMT1 and POMT2 is required for maintaining the conformation as well as the activity of the POMT1-POMT2 complex

ASSOCIATED DISORDERS

corresponding disease(s)

WLKWS2 , LGMD2N

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS