MFAP4 - microfibril associated protein 4 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 4239

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 References Source
enables protein binding IPI
IPI: Inferred from physical interaction
22355679 GOA
Biological Process GO Annotation Evidence References 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 References 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

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

  • 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) ≥ 90%, as determined by Bis-Tris PAGE.

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

Pre-clinical Phase

Bioactive Molecules (3)
Cat. No. Product Name
Effect
Purity
Rare Diseases
HY-RS08378 MFAP4 Human Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS17705 Mfap4 Mouse Pre-designed siRNA Set A Pre-designed Set / Unkown
HY-RS24169 Mfap4 Rat Pre-designed siRNA Set A Pre-designed Set / 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
Others MFAP4 NCBI