MFAP1 (microfibril associated protein 1)

2014-11-01  

Identity

HGNC
LOCATION
15q15.3
LOCUSID
ALIAS
AMP
FUSION GENES

Other Information

Locus ID:

NCBI: 4236
MIM: 600215
HGNC: 7032
Ensembl: ENSG00000140259

Variants:

dbSNP: 4236
ClinVar: 4236
TCGA: ENSG00000140259
COSMIC: MFAP1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000140259ENST00000267812P55081

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
283357162017Human MFAP1 is a cryptic ortholog of the Saccharomyces cerevisiae Spp381 splicing factor.3

Citation

Dessen P

MFAP1 (microfibril associated protein 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68931/mfap1