1. Gene
  2. MFGE8 - milk fat globule EGF and factor V/VIII domain containing Gene

MFGE8 - milk fat globule EGF and factor V/VIII domain containing Gene

中文名称:含乳脂肪球 EGF 和因子 V/VIII 结构域

种属: Homo sapiens

同用名: BA46; HMFG; MFGM; SED1; hP47; EDIL1; MFG-E8; SPAG10; OAcGD3S; HsT19888

基因 ID: 4240 | 基因类型: protein coding

关于 MFGE8

Cytogenetic location: 15q26.1 Genomic coordinates (GRCh38): 15:88,898,683-88,913,379 (from NCBI)

This gene has 23 transcripts (splice variants), 278 orthologues and 35 paralogues. Broad expression in heart (RPKM 68.1), endometrium (RPKM 47.7) and 22 other tissues.

功能概要

该基因编码一种前原蛋白,该蛋白经过蛋白水解加工形成多种蛋白质产物。主要的编码蛋白产物乳粘素是一种膜糖蛋白,可促进凋亡细胞的吞噬作用。这种蛋白质还与伤口愈合、自身免疫性疾病和癌症有关。乳粘素可以进一步加工形成较小的裂解产物 medin,它包含主动脉内侧淀粉样蛋白 (AMA) 的主要蛋白质成分。可变剪接导致多个转录本变体。[RefSeq 提供,2015 年 7 月]

This gene encodes a preproprotein that is proteolytically processed to form multiple protein products. The major encoded protein product, lactadherin, is a membrane glycoprotein that promotes phagocytosis of apoptotic cells. This protein has also been implicated in wound healing, autoimmune disease, and Cancer. Lactadherin can be further processed to form a smaller cleavage product, medin, which comprises the major protein component of aortic medial amyloid (AMA). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2015]

MFGE8 基因产物(5)

mRNA Protein Name
NM_001114614.3 NP_001108086.1 lactadherin isoform b precursor
NM_001310319.2 NP_001297248.1 lactadherin isoform d precursor
NM_001310320.2 NP_001297249.1 lactadherin isoform c
NM_001310321.2 NP_001297250.1 lactadherin isoform e
NM_005928.4 NP_005919.2 lactadherin isoform a preproprotein
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 phosphatidylserine binding IPI
IPI: 通过物理相互作用推断
21196491 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

MFGE8 蛋白结构

EGF

EGF: EGF-like domain (27 - 64)

F5_F8_type_C

F5_F8_type_C: F5/8 type C domain (86 - 222)

F5_F8_type_C

F5_F8_type_C: F5/8 type C domain (245 - 384)

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

lactadherin

O-acetyl disialoganglioside synthase

重组 MFGE8 蛋白

目录号 产品名 蛋白编号 纯度
HY-P73815 MFG-E8 Protein, Human (sf9, His) Q08431-1 (L24-C387) ≥95%
HY-P73816 MFG-E8 Protein, Human (Biotinylated, sf9, His-Avi) Q08431-1 (L24-C387) ≥95%

关联疾病

疾病名称 别名
Topographical Agnosia
Opisthorchiasis

Infection By Opisthorchis

Infection Due To Opisthorchis

Infection Due To Cat Liver Fluke

Infection By Cat Liver Fluke

Opisthorchiosis

Cat Liver Fluke Fever

Cat Liver Fluke Disease

Opisthorchis Infestation

Cat Liver Fluke Infestation

Anal Paget'S Disease

Anal Paget Disease

Paget'S Disease Of Anus

Paget'S Disease Of The Anus

Paget Disease Of The Anus

Diamond-Blackfan Anemia 9

DBA9

Rps10-Related Diamond-Blackfan Anemia

Anemia, Diamond-Blackfan, Type 9

Hidrocystoma

Apocrine Cystadenoma

Eccrine Hidrocystoma

Eccrine Cystadenoma

Eccrine Hidrocystoma Of Skin

Apocrine Adenoma

Sexual Sadism

Sadism

Autoimmune Disease

Autoimmune Diseases

Autoimmune Hypersensitivity Disease

Hypersensitivity Reaction Type Ii Disease

Type Ii Hypersensitivity Reaction Disease

Aortic Aneurysm, Familial Thoracic 1

Thoracic Aortic Aneurysm

Annuloaortic Ectasia

Familial Thoracic Aortic Aneurysm And Aortic Dissection

Familial Aortic Dissection

Familial Taad

Familial Thoracic Aortic Aneurysm

Congenital Aneurysm Of Ascending Aorta

Familial Aortic Aneurysm

Familial Thoracic Aortic Aneurysm And Dissection

Aortic Aneurysm, Thoracic

AAT1

Faa1

Aortic Dissection, Familial

Aortic Aneurysm, Familial Thoracic

Aneurysm, Thoracic Aortic

Faa

Ftaad

Taa

Taad

Cystic Medial Necrosis Of Aorta

Familial Non-Syndromic Thoracic Aortic Aneurysm And Aortic Dissection

Aortic Aneurysm Thoracic

Familial Aortic Aneurysms

Aneurysm, Aortic, Thoracic, Familial, Type 1

Aneurysm Of Thoracic Aorta

Intrathoracic Aneurysm

Thoracic Aorta Aneurysm

Thoracic Aortic Aneurysm Without Rupture

Thoracic Aneurysm

Thorax Arterial Aneurysm

Thoracic Artery Aneurysm

Thoracic Arterial Aneurysm

Thorax Aneurysm

Thorax Aortic Aneurysm

Dissection Of Thoracic Aorta

Alzheimer Disease, Familial, 1

Alzheimer Disease

Alzheimer'S Disease

Presenile And Senile Dementia

AD1

Alzheimer Disease, Susceptibility To

Alzheimer Disease, Late-Onset, Susceptibility To

Alzheimer Disease 1, Familial

AD

Familial Alzheimer Disease

Alzheimer Disease, Late-Onset

Alzheimers Dementia

Alzheimer Dementia

Alzheimer Sclerosis

Alzheimer Syndrome

Alzheimer-Type Dementia

Dat

Primary Senile Degenerative Dementia

Sdat

Alzheimer Disease 1

Autosomal Dominant Alzheimer Disease

Early-Onset Alzheimer Disease With Cerebral Amyloid Angiopathy

Late Onset Alzheimer Disease

Alzheimers Disease

Alzheimer Disease, Early-Onset, With Cerebral Amyloid Angiopathy

Late-Onset Alzheimers Disease

Alzheimer'S Disease Pathway Kegg

Dementia Due To Alzheimer'S Disease

Alzheimer Disease Type 1

Alzheimers

Retinitis Pigmentosa

RP

Rod-Cone Dystrophy

Autosomal Recessive Retinitis Pigmentosa

Non-Syndromic Retinitis Pigmentosa

Pericentral Pigmentary Retinopathy

Pigmentary Retinopathy

Tapetoretinal Degeneration

Rcd

Retinitis Pigmentosa Autosomal Recessive

ARRP

Retinitis Pigmentosa, Autosomal Recessive

Retinitis Pigmentosa 1

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 MFGE8 VGNC VGNC:68242
Mus musculus MFGE8 MGD MGI:102768
Bos taurus MFGE8 VGNC VGNC:31426
Canis familiaris MFGE8 VGNC VGNC:53186
Rattus norvegicus MFGE8 RGD RGD:3083