MFAP4 (microfibril associated protein 4)

2016-10-01  

Identity

HGNC
LOCATION
17p11.2
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 4239
MIM: 600596
HGNC: 7035
Ensembl: ENSG00000166482

Variants:

dbSNP: 4239
ClinVar: 4239
TCGA: ENSG00000166482
COSMIC: MFAP4

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000166482ENST00000299610P55083
ENSG00000166482ENST00000395592P55083
ENSG00000166482ENST00000395592A0A024QZ34
ENSG00000166482ENST00000497081K7ES70

Expression (GTEx)

0
500
1000
1500
2000

Pathways

PathwaySourceExternal ID
Extracellular matrix organizationREACTOMER-HSA-1474244
Elastic fibre formationREACTOMER-HSA-1566948
Molecules associated with elastic fibresREACTOMER-HSA-2129379

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
175399032007Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.49
206286242010Evaluation of candidate stromal epithelial cross-talk genes identifies association between risk of serous ovarian cancer and TERT, a cancer susceptibility "hot-spot".29
266019542016Characterization of Microfibrillar-associated Protein 4 (MFAP4) as a Tropoelastin- and Fibrillin-binding Protein Involved in Elastic Fiber Formation.23
265648192016MFAP4 Promotes Vascular Smooth Muscle Migration, Proliferation and Accelerates Neointima Formation.22
168671552006Microfibril-associated protein 4 binds to surfactant protein A (SP-A) and colocalizes with SP-A in the extracellular matrix of the lung.20
243492332013Localization of microfibrillar-associated protein 4 (MFAP4) in human tissues: clinical evaluation of serum MFAP4 and its association with various cardiovascular conditions.20
223556792011Essential role of microfibrillar-associated protein 4 in human cutaneous homeostasis and in its photoprotection.17
269558892016Identification of Human Juvenile Chondrocyte-Specific Factors that Stimulate Stem Cell Growth.8
264605652015Microfibrillar-Associated Protein 4: A Potential Biomarker for Screening for Liver Fibrosis in a Mixed Patient Cohort.7
273783832016Evaluation of the biomarker candidate MFAP4 for non-invasive assessment of hepatic fibrosis in hepatitis C patients.7

Citation

Dessen P

MFAP4 (microfibril associated protein 4)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56560/mfap4