2. Gene
  3. MFAP4 - microfibril associated protein 4 Gene

MFAP4 - microfibril associated protein 4 Gene

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

中文名称：微纤维相关蛋白 4

种属: Homo sapiens

基因 ID: 4239 | 基因类型: protein coding

关于 MFAP4

Cytogenetic location: 17p11.2 Genomic coordinates (GRCh38): 17:19,383,445-19,387,190 (from NCBI)

This gene has 5 transcripts (splice variants), 574 orthologues and 25 paralogues. Broad expression in gall bladder (RPKM 378.1), lung (RPKM 320.6) and 18 other tissues.

功能概要

该基因编码的蛋白质与牛微纤维相关蛋白相似。该蛋白质对胶原蛋白和碳水化合物均具有结合特异性。它被认为是一种细胞外基质蛋白，参与细胞粘附或细胞间相互作用。该基因位于 Smith-Magenis 综合征区域内。已发现该基因的两个转录本变体编码不同的亚型。[RefSeq 提供，2010 年 11 月]

This gene encodes a protein with similarity to a bovine microfibril-associated protein. The protein has binding specificities for both Collagen and carbohydrate. It is thought to be an extracellular matrix protein which is involved in cell adhesion or intercellular interactions. The gene is located within the Smith-Magenis syndrome region. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2010]

MFAP4 基因产物(2)

mRNA Protein Name
NM_001198695.2 NP_001185624.1 microfibril-associated glycoprotein 4 isoform 1 precursor
NM_002404.3 NP_002395.1 microfibril-associated glycoprotein 4 isoform 2 precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables protein binding IPI
IPI: 通过物理相互作用推断
22355679 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in UV protection IDA
IDA: 通过直接分析推断
22355679 GOA
involved in cellular response to UV-B IDA
IDA: 通过直接分析推断
22355679 GOA
involved in elastic fiber assembly IDA
IDA: 通过直接分析推断
22355679 GOA
involved in regulation of collagen metabolic process IDA
IDA: 通过直接分析推断
22355679 GOA
involved in supramolecular fiber organization IDA
IDA: 通过直接分析推断
22355679 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in collagen-containing extracellular matrix IDA
IDA: 通过直接分析推断
26601954 GOA
located in elastic fiber IDA
IDA: 通过直接分析推断
10424889 GOA
located in extracellular region IDA
IDA: 通过直接分析推断
22355679 GOA
located in microfibril IDA
IDA: 通过直接分析推断
22355679 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

MFAP4 蛋白结构

Fibrinogen_C

Fibrinogen_C: Fibrinogen beta and gamma chains, C-terminal globular domain (39 - 254)

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

microfibril-associated glycoprotein 4

microfibrillar associated protein 4

重组 MFAP4 蛋白

目录号 产品名 蛋白编号 纯度
HY-P77993 MFAP4 Protein, Human (HEK293, His-Flag) P55083-1 (V22-A255) ≥95%

关联疾病

疾病名称 别名
Smith-Magenis Syndrome

SMS

Chromosome 17p11.2 Deletion Syndrome

17p11.2 Microdeletion Syndrome

17p11.2 Monosomy

Chromosome 17p Deletion Syndrome

Del(17)

P11.2

17p- Syndrome

Deletion 17p Syndrome

Partial Monosomy 17p
Focal Chorioretinitis
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
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 (3)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08378 MFAP4 Human Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS17705 Mfap4 Mouse Pre-designed siRNA Set A Pre-designed Set / 否
HY-RS24169 Mfap4 Rat Pre-designed siRNA Set A Pre-designed Set / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta MFAP4 VGNC VGNC:74710
Bos taurus MFAP4 VGNC VGNC:31424
Felis catus MFAP4 VGNC VGNC:68241
Mus musculus MFAP4 MGD MGI:1342276
Canis familiaris MFAP4 VGNC VGNC:43190
Rattus norvegicus MFAP4 RGD RGD:1307841
Macaca fascicularis MFAP4 NCBI NCBI:102132579
Others MFAP4 NCBI
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