POFUT2 - protein O-fucosyltransferase 2 Gene

Also Known as FUT13; C21orf80

生物種: Homo sapiens

遺伝子タイプ: protein coding
遺伝子ID: 23275

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

O-FucT: GDP-fucose protein O-fucosyltransferase (46 - 404)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 429 a.a.
Protein Preferred Names Protein Names

GDP-fucose protein O-fucosyltransferase 2

  • O-FucT-2

関連疾患

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

Pre-clinical Phase

Bioactive Molecules (1)
製品番号 製品名
製品効果
純度
Rare Diseases
HY-RS10812 POFUT2 Human Pre-designed siRNA Set A Pre-designed Set / Unkown

Orthologs Information

生物種 Symbol 由来 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
Others POFUT2 NCBI