2. Gene
  3. POFUT2 - protein O-fucosyltransferase 2 Gene

POFUT2 - protein O-fucosyltransferase 2 Gene

  • 基因
  • 蛋白
  • 疾病
  • 相关产品
  • 直系同源

中文名称：蛋白 O-岩藻糖基转移酶 2

种属: Homo sapiens

同用名: FUT13; C21orf80

基因 ID: 23275 | 基因类型: protein coding

关于 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.

功能概要

岩藻糖通常被发现作为支链糖缀合物的末端修饰，但它也存在于表皮生长因子 (EGF；MIM 131530) 样重复序列或血小板反应蛋白 (THBS；见 MIM 188060) type-1 重复。 POFUT2 是一种使用 THBS 1 型重复序列作为底物的 O-岩藻糖基转移酶 (Luo 等人，2006 [PubMed 16464857]) 。[OMIM 提供，2008 年 3 月]

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 基因产物(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 蛋白结构

O-FucT

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

  • 0
  • 100
  • 200
  • 300
  • 400
  • 429 a.a.
蛋白主名 其他名称

GDP-fucose protein O-fucosyltransferase 2

O-FucT-2

关联疾病

疾病名称 别名
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
疾病名称 别名
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

相关产品

Pre-clinical Phase
生物活性分子 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS10812 POFUT2 Human Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 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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