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MFAP2 - microfibril associated protein 2 Gene

Also Known as MAGP; MAGP1; MAGP-1

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 4237

About 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.

Summary

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 Products (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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in embryonic eye morphogenesis	IEP IEP: Inferred from expression pattern	25406291	GOA
involved in post-embryonic eye morphogenesis	IEP IEP: Inferred from expression pattern	25406291	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in microfibril	IDA IDA: Inferred from direct assay	24353434	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

MFAP2 Protein Structure

MAGP

ShK

0
100
183 a.a.

Protein Preferred Names	Protein Names
microfibrillar-associated protein 2	microfibril-associated glycoprotein 1

Related Diseases

Diseases	Alias
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

Diseases	Alias
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

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08376	MFAP2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	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
Others	MFAP2	NCBI