2. Gene
  3. MFAP2 - microfibril associated protein 2 Gene

MFAP2 - microfibril associated protein 2 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 2

种属: Homo sapiens

同用名: MAGP; MAGP1; MAGP-1

基因 ID: 4237 | 基因类型: protein coding

关于 MFAP2

Cytogenetic location: 1p36.13 Genomic coordinates (GRCh38): 1:16,974,502-16,981,583 (from NCBI)

This gene has 6 transcripts (splice variants), 173 orthologues and 1 paralogue. Broad expression in endometrium (RPKM 22.6), gall bladder (RPKM 22.5) and 16 other tissues.

功能概要

微纤维相关蛋白 2 是弹性蛋白相关微纤维的主要抗原，是参与遗传性结缔组织疾病病因学的候选抗原。已发现该基因编码两种不同亚型的四种转录变体。[RefSeq 提供，2008 年 9 月]

Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]

MFAP2 基因产物(4)

mRNA Protein Name
NM_001135247.2 NP_001128719.1 microfibrillar-associated protein 2 isoform b precursor
NM_001135248.2 NP_001128720.1 microfibrillar-associated protein 2 isoform b precursor
NM_002403.4 NP_002394.1 microfibrillar-associated protein 2 isoform a precursor
NM_017459.3 NP_059453.1 microfibrillar-associated protein 2 isoform a 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
32296183 GOA
生物过程 GO 注释 逻辑证据 参考文献 来源
involved in embryonic eye morphogenesis IEP
IEP: 通过表达模式推断
25406291 GOA
involved in post-embryonic eye morphogenesis IEP
IEP: 通过表达模式推断
25406291 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in microfibril IDA
IDA: 通过直接分析推断
24353434 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

MFAP2 蛋白结构

MAGP

MAGP: Microfibril-associated glycoprotein (MAGP) (1 - 151)

ShK

ShK: ShK domain-like (153 - 183)

  • 0
  • 100
  • 183 a.a.
蛋白主名 其他名称

microfibrillar-associated protein 2

microfibril-associated glycoprotein 1

关联疾病

疾病名称 别名
Senile Ectropion

Involutional Ectropion
Contractural Arachnodactyly, Congenital

Congenital Contractural Arachnodactyly

Beals Syndrome

CCA

Beals-Hecht Syndrome

Distal Arthrogryposis Type 9

Arthrogryposis, Distal, Type 9

Da9

Arachnodactyly, Contractural Beals Type

Contractures, Multiple With Arachnodactyly

Ear Anomalies-Contractures-Dysplasia Of Bone With Kyphoscoliosis

Arthrogyroposis, Distal, Type 9

Distal Arthrogyropsis Type 9

Cca Syndrome

Arachnodactyly
Phacogenic Glaucoma
Weill-Marchesani Syndrome

Gemss Syndrome

Spherophakia-Brachymorphia Syndrome

Marchesani-Weill Syndrome

Wms

Congenital Mesodermal Dystrophy

Mesodermal Dysmorphodystrophy, Congenital

Spherophakia Brachymorphia Syndrome

Mesodermal Dysmorphodystrophy Congenital

Wm Syndrome

Brachydactyly-Spherophakia Syndrome

Brachymorphy With Spherophakia Syndrome

Congenital Mesodermal Dysmorphodystrophy

Marchesani Syndrome

Weill-Marchesani Syndrome, Autosomal Recessive

Weill-Marchesani Syndrome, Autosomal Dominant
Connective Tissue Disease

Connective Tissue Diseases

Connective Tissue Disorder

Abnormality Of Connective Tissue

Disorder Of Connective Tissue

Connective Tissue Disorders
Geleophysic Dysplasia

Geleophysic Dwarfism

Gphysd
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 (1)
Cat. No. 产品名 作用方式
纯度 是否罕见病
HY-RS08376 MFAP2 Human Pre-designed siRNA Set A Pre-designed Sets / 否

直系同源

种属 基因名 来源 基因 ID
Macaca mulatta MFAP2 VGNC VGNC:74708
Felis catus MFAP2 VGNC VGNC:68239
Rattus norvegicus MFAP2 RGD RGD:1306031
Canis familiaris MFAP2 VGNC VGNC:43187
Bos taurus MFAP2 VGNC VGNC:31422
Mus musculus MFAP2 MGD MGI:99559
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