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FLASH GENE

Symbol

POFUT2

contributors: mct - updated : 15-02-2012

HGNC name	protein O-fucosyltransferase 2
HGNC id	14683

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	23.97 kb     10 Exon(s)

MAPPING

cloned

Y

linked

N

status

confirmed

Map	see ADARB1

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_015227 8 - 4843 - 424 fetal liver, peripheral lymphocytes 2006 16679357 POFUT2 Ia POFUT2 Ib - - 4840 - 380 spleen, lung, testis, bone marrow, pancreas, prostate , fetal brain, liver, kidney 2006 16679357 NM_133635 10 - 2878 - 429 brain, heart, spleen, liver, lung, stomach, testis, placenta, prostate, skin, fetal brain, liver, heart, 2006 16679357 POFUT2 Ic

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 Cardiovascular heart       highly Nervous brain

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies

ortholog to C-elegans Pad-2

Homologene

FAMILY

CATEGORY

enzyme

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,organelle,endoplasmic reticulum
	intracellular,cytoplasm,organelle,Golgi
text	colocalizing with giantin, a Golgi-specific protein

basic FUNCTION	playing a potential role in Down syndrome phenotype
	O-fucosylate Thrombospondin type 1 repeats (TSRs) but not EGF-like repeats

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

ANIMAL & CELL MODELS