MFAP4 - microfibril associated protein 4 Gene

Homo sapiens

Gene ID: 4239 | Gene type: protein coding

About 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.

Summary

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 Products(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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables protein binding	IPI IPI: Inferred from physical interaction	22355679	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in UV protection	IDA IDA: Inferred from direct assay	22355679	GOA
involved in cellular response to UV-B	IDA IDA: Inferred from direct assay	22355679	GOA
involved in elastic fiber assembly	IDA IDA: Inferred from direct assay	22355679	GOA
involved in regulation of collagen metabolic process	IDA IDA: Inferred from direct assay	22355679	GOA
involved in supramolecular fiber organization	IDA IDA: Inferred from direct assay	22355679	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in collagen-containing extracellular matrix	IDA IDA: Inferred from direct assay	26601954	GOA
located in elastic fiber	IDA IDA: Inferred from direct assay	10424889	GOA
located in extracellular region	IDA IDA: Inferred from direct assay	22355679	GOA
located in microfibril	IDA IDA: Inferred from direct assay	22355679	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

MFAP4 Protein Structure

Fibrinogen_C

0
100
200
255 a.a.

Protein Preferred Names

Protein Names

microfibril-associated glycoprotein 4

microfibrillar associated protein 4

Recombinant MFAP4 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P77993	MFAP4 Protein, Human (HEK293, His-Flag)	P55083-1 (V22-A255)	≥95%

Related Diseases

Diseases

Alias

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

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS08378	MFAP4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	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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