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  2. MFAP2 - microfibril associated protein 2 Gene

MFAP2 - microfibril associated protein 2 Gene

Homo sapiens

Also known as MAGP; MAGP1; MAGP-1

Gene ID: 4237 | Gene type: protein coding

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

MFAP2 Protein Structure

MAGP

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

ShK

ShK: ShK domain-like (153 - 183)

  • 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

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