POFUT2 - protein O-fucosyltransferase 2 Gene

Homo sapiens

Also known as FUT13; C21orf80

Gene ID: 23275 | Gene type: protein coding

About POFUT2

Cytogenetic location: 21q22.3 Genomic coordinates (GRCh38): 21:45,263,935-45,287,895 (from NCBI)

This gene has 14 transcripts (splice variants) and 213 orthologues. Ubiquitous expression in testis (RPKM 7.6), placenta (RPKM 6.4) and 25 other tissues.

Summary

Fucose is typically found as a terminal modification of branched chain glycoconjugates, but it also exists in direct O-linkage to serine or threonine residues within cystine knot motifs in epidermal growth factor (EGF; MIM 131530)-like repeats or thrombospondin (THBS; see MIM 188060) type-1 repeats. POFUT2 is an O-fucosyltransferase that use THBS type-1 repeats as substrates (Luo et al., 2006 [PubMed 16464857]).[supplied by OMIM, Mar 2008]

POFUT2 Products(2)

mRNA	Protein	Name
NM_015227.6	NP_056042.1	GDP-fucose protein O-fucosyltransferase 2 isoform A precursor
NM_133635.6	NP_598368.2	GDP-fucose protein O-fucosyltransferase 2 isoform C precursor

POFUT2 Protein Structure

O-FucT

0
100
200
300
400
429 a.a.

Protein Preferred Names

Protein Names

GDP-fucose protein O-fucosyltransferase 2

O-FucT-2

Related Diseases

Diseases

Alias

Peters-Plus Syndrome

Krause-Kivlin Syndrome	Peters Plus Syndrome
Peters Anomaly	Irido-Corneo-Trabecular Dysgenesis
PTRPLS	Peters Anomaly With Short-Limb Dwarfism
Peters Anomaly-Short Limb Dwarfism Syndrome	Peters Anomaly With Short Limb Dwarfism
Peters Congenital Glaucoma	Krause-Van Schooneveld-Kivlin Syndrome
Peters' Plus Syndrome	Peters'-Plus Syndrome
Anomaly Peters

Dowling-Degos Disease

Reticular Pigment Anomaly Of Flexures	Dark Dot Disease
Reticulate Acropigmentation Of Kitamura	Dowling-Degos Kitamura Disease
Kitamura Reticulate Acropigmentation	Ddd
Dowling-Degos-Kitamura Disease	Reticular Pigmented Anomaly Of Flexures

Geleophysic Dysplasia 1

GPHYSD1	Geleophysic Dwarfism
Geleophysic Dysplasia

Hyperinsulinemic Hypoglycemia, Familial, 7

HHF7	Exercise-Induced Hyperinsulinemic Hypoglycemia
Exercise-Induced Hyperinsulinism	Familial Hyperinsulinemic Hypoglycemia 7
Eihi	Hyperinsulinism Due To Monocarboxylate Transporter 1 Deficiency
Hyperinsulinism Due To Slc16a1 Deficiency	Hyperinsulinemic Hypoglycemia, Exercise-Induced
Exercise Induced Hyperinsulinemic Hypoglycemia	Hyperinsulinemic Hypoglycemia Exercise-Induced
Hyperinsulinemic Hypoglycemia Familial 7

Geleophysic Dysplasia

Geleophysic Dwarfism

Gphysd

Anterior Segment Dysgenesis

Anterior Segment Developmental Anomaly	Anterior Segment Mesenchymal Dysgenesis
Corneal Opacification And Other Ocular Anomalies	Sclerocornea With Other Ocular Anomalies
Asmd	Asod
Anterior Segment Ocular Dysgenesis	Foxe3-Related Ocular Disorder
Familial Ocular Anterior Segment Mesenchymal Dysgenesis	Dysgenesis, Anterior Segment
Irido-Corneal Dysgenesis	Axenfeld-Rieger Syndrome, Type 3

Congenital Disorder Of Glycosylation, Type In

Congenital Disorder Of Glycosylation	CDG1N
Congenital Disorders Of Glycosylation	Cdg In
Cdgin	Congenital Disorder Of Glycosylation 1n
Carbohydrate-Deficient Glycoprotein Syndrome	Cdg
Rft1-Cdg	Cdg-In
Congenital Disorder Of Glycosylation Type In	Carbohydrate Deficient Glycoprotein Syndrome
Cdg Syndrome	Congenital Disorder Of Glycosylation In
Carbohydrate-Deficient Glycoprotein Syndromes	Cdg Syndrome Type In
Carbohydrate Deficient Glycoprotein Syndrome Type In	Congenital Disorder Of Glycosylation Type 1n
Man5glcnac2-Pp-Dol Flippase Deficiency	Glycosylation, Congenital Disorder Of
Glycosylation, Congenital Disorder Of, Type In

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10812	POFUT2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	POFUT2	VGNC	VGNC:49690
Felis catus	POFUT2	VGNC	VGNC:102806
Macaca mulatta	POFUT2	VGNC	VGNC:76028
Mus musculus	POFUT2	MGD	MGI:1916863
Bos taurus	POFUT2	VGNC	VGNC:33106
Rattus norvegicus	POFUT2	RGD	RGD:1307334

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