MFAP2 (microfibril associated protein 2)

2003-05-01  

Identity

HGNC
MFAP2
LOCATION
1p36.13
LOCUSID
4237
ALIAS
MAGP,MAGP-1,MAGP1

Other Information

Locus ID:

NCBI: 4237
MIM: 156790
HGNC: 7033
Ensembl: ENSG00000117122

Variants:

dbSNP: 4237
ClinVar: 4237
TCGA: ENSG00000117122
COSMIC: MFAP2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000117122ENST00000375534P55001
ENSG00000117122ENST00000375535P55001
ENSG00000117122ENST00000375535A0A024RA94

Expression (GTEx)

0
10
20
30
40
50
60
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
164926722006Microfibrillar proteins MAGP-1 and MAGP-2 induce Notch1 extracellular domain dissociation and receptor activation.46
191822562009Exploring functional candidate genes for genetic association in german patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma.19
215407692011Comparative immunolocalization of the elastin fiber-associated proteins fibrillin-1, LTBP-2, and MAGP-1 with components of the collagenous and proteoglycan matrix of the fetal human intervertebral disc.8
295246292018Microfibril-associated glycoproteins MAGP-1 and MAGP-2 in disease.7
152338062004Microfibril-associated glycoprotein-1 binding to tropoelastin: multiple binding sites and the role of divalent cations.5
176925552007The intracellular form of human MAGP1 elicits a complex and specific transcriptional response.4
232011362013Identification of a functional proprotein convertase cleavage site in microfibril-associated glycoprotein 2.4
228850672012NLF2 gene expression in the endometrium of patients with implantation failure after IVF treatment.1

Citation

Dessen P

MFAP2 (microfibril associated protein 2)

Atlas Genet Cytogenet Oncol Haematol. 2003-05-01

Online version: http://atlasgeneticsoncology.org/gene/41341/mfap2