1. Gene
  2. RFNG - RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase Gene

RFNG - RFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase Gene

中文名称:RFNG O-岩藻糖基肽 3-β-N-乙酰氨基葡萄糖转移酶

种属: Homo sapiens

基因 ID: 5986 | 基因类型: protein coding

关于 RFNG

Cytogenetic location: 17q25.3 Genomic coordinates (GRCh38): 17:82,047,902-82,051,811 (from NCBI)

This gene has 12 transcripts (splice variants), 215 orthologues and 3 paralogues. Ubiquitous expression in ovary (RPKM 13.6), fat (RPKM 12.9) and 25 other tissues.

功能概要

预测可启用 O-岩藻糖基肽 3-β-N-乙酰葡糖胺基转移酶活性。预计参与 Notch 信号通路的调控。预计在 Notch 信号通路的正向调节和蛋白质结合活性的正向调节的上游或内部起作用。预计是高尔基体膜的组成部分。 [由基因组资源联盟提供,2022 年 4 月]

Predicted to enable O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity. Predicted to be involved in regulation of Notch signaling pathway. Predicted to act upstream of or within positive regulation of Notch signaling pathway and positive regulation of protein binding activity. Predicted to be integral component of Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]

RFNG 基因产物(1)

mRNA Protein Name
NM_002917.2 NP_002908.1 beta-1,3-N-acetylglucosaminyltransferase radical fringe precursor

RFNG 蛋白结构

Fringe

Fringe: Fringe-like (55 - 305)

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

beta-1,3-N-acetylglucosaminyltransferase radical fringe

O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

关联疾病

疾病名称 别名
Congenital Muscular Dystrophy-Dystroglycanopathy Type A11

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies Type A11

Mddga11

Walker-Warburg Syndrome Or Muscle-Eye-Brain Disease B3galnt2-Related

Congenital Muscular Dystrophy-Dystroglycanopathy With Brain And Eye Anomalies, Type A11

Spondylocostal Dysostosis

Jarcho-Levin Syndrome

Costovertebral Dysplasia

Spondylothoracic Dysostosis

Spondylothoracic Dysplasia

Scdo

Dysostosis, Spondylocostal

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

Adams-Oliver Syndrome

Adams Oliver Syndrome

Aos

Congenital Scalp Defects With Distal Limb Reduction Anomalies

Aplasia Cutis Congenita With Terminal Transverse Limb Defects

Congenital Scalp Defects With Distal Limb Anomalies

Limb, Scalp And Skull Defects

Limb Scalp And Skull Defects

Absence Defect Of Limbs, Scalp, And Skull

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

直系同源

种属 基因名 来源 基因 ID
Felis catus RFNG VGNC VGNC:69299
Rattus norvegicus RFNG RGD RGD:621322
Canis familiaris RFNG VGNC VGNC:45499
Macaca mulatta RFNG VGNC VGNC:76905
Mus musculus RFNG MGD MGI:894275
Bos taurus RFNG VGNC VGNC:55866