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

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

中文名称:MFNG 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: 4242 | 基因类型: protein coding

关于 MFNG

Cytogenetic location: 22q13.1 Genomic coordinates (GRCh38): 22:37,469,063-37,486,384 (from NCBI)

This gene has 10 transcripts (splice variants), 214 orthologues and 3 paralogues. Broad expression in lymph node (RPKM 25.3), spleen (RPKM 22.3) and 23 other tissues.

功能概要

该基因是糖基转移酶 31 基因家族的成员。该基因家族的成员还包括 LFNG (GeneID: 3955) 和 RFNG (GeneID: 5986) 基因,它们编码进化上保守的糖基转移酶,这些糖基转移酶在胚胎发育过程中作用于 Notch 信号通路以定义边界。虽然它们的基因组结构不同于其他糖基转移酶,但这些蛋白质具有岩藻糖特异性 β-1,3-N-乙酰葡糖胺基转移酶活性,可导致 Notch 上 O-连接的岩藻糖残基延长,从而改变 Notch 信号传导。该基因编码的蛋白质可能控制密蛋白低位乳腺癌中的 Notch 信号传导。[RefSeq 提供,2018 年 5 月]

This gene is a member of the Glycosyltransferase 31 gene family. Members of this gene family, which also includes the LFNG (GeneID: 3955) and RFNG (GeneID: 5986) genes, encode evolutionarily conserved glycosyltransferases that act in the Notch signaling pathway to define boundaries during embryonic development. While their genomic structure is distinct from Other glycosyltransferases, these proteins have a fucose-specific beta-1,3-N-acetylglucosaminyltransferase activity that leads to elongation of O-linked fucose residues on Notch, which alters Notch signaling. The protein encoded by this gene may control Notch signaling in claudin-low breast Cancer. [provided by RefSeq, May 2018]

MFNG 基因产物(2)

mRNA Protein Name
NM_001166343.2 NP_001159815.1 beta-1,3-N-acetylglucosaminyltransferase manic fringe isoform 2
NM_002405.4 NP_002396.2 beta-1,3-N-acetylglucosaminyltransferase manic fringe isoform 1
基因本体论
  • 分子功能
分子功能 GO 注释 逻辑证据 参考文献 来源
enables O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity IDA
IDA: 通过直接分析推断
10935626 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

MFNG 蛋白结构

Fringe

Fringe: Fringe-like (50 - 300)

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

beta-1,3-N-acetylglucosaminyltransferase manic fringe

O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

关联疾病

疾病名称 别名
Spondylocostal Dysostosis

Jarcho-Levin Syndrome

Costovertebral Dysplasia

Spondylothoracic Dysostosis

Spondylothoracic Dysplasia

Scdo

Dysostosis, Spondylocostal

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

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

Breast Cancer

Breast Carcinoma

Male Breast Cancer

Breast Cancer, Familial

Malignant Neoplasm Of Breast

Breast Cancer, Susceptibility To

Breast Cancer, Early-Onset

Malignant Tumor Of Breast

Carcinoma Of Male Breast

Breast Cancer, Invasive Ductal

Breast Cancer, Protection Against

Breast Cancer, Somatic

Breast Cancer, Male

Breast Cancer, Lobular, Somatic

Breast Tumor

Mammary Cancer

Mammary Tumor

Malignant Neoplasm Of Male Breast

Mammary Carcinoma

Male Breast Carcinoma

Familial Cancer Of Breast

Invasive Ductal Breast Carcinoma

Breast Cancer Susceptibility

Breast Cancer, Male, Susceptibility To

Breast Cancer, Early-Onset, Susceptibility To

Malignant Tumor Of The Breast

Mammary Neoplasm

Primary Breast Cancer

Neoplasm Of Male Breast

Carcinoma Of Breast

Breast Cancer In Men

Familial Breast Cancer

Cancer Of Breast

BC

Breast Cancer Familial

Breast Cancer Familial Male

Breast Cancer, Familial Male

Breast Male Carcinoma

Breast Neoplasms

Breast Neoplasms, Male

Mammary Tumors

Mammary Carcinomas

Cancer, Breast

Cancer, Breast, Susceptibility

Invasive Breast Ductal Carcinoma

Breast Neoplasm

Susceptibility To Breast Cancer

Mammary Neoplasms

Animal Mammary Neoplasms

Primary Malignant Neoplasm Of Breast

Infiltrating Ductal Carcinoma Of Breast

Infiltrating Duct Carcinoma Of Unspecified Site

Infiltrating Ductular Carcinoma Of Unspecified Site

Invasive Breast Carcinoma Of No Special Type

Microinvasive Carcinoma Of Breast

Carcinoma With Apocrine Differentiation

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
Canis familiaris MFNG VGNC VGNC:43194
Felis catus MFNG VGNC VGNC:68244
Macaca mulatta MFNG VGNC VGNC:74712
Rattus norvegicus MFNG RGD RGD:735126
Mus musculus MFNG MGD MGI:1095404
Bos taurus MFNG VGNC VGNC:31429