Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	4237
Gene name	Microfibril associated protein 2
Gene symbol	MFAP2
Synonyms (NCBI Gene)	MAGPMAGP-1MAGP1
Chromosome	1
Chromosome location	1p36.13
Summary	Microfibrillar-associated protein 2 is a major antigen of elastin-associated microfibrils and a candidate for involvement in the etiology of inherited connective tissue diseases. Four transcript variants encoding two different isoforms have been found for

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miRTarBase ID	miRNA	Experiments	Reference
MIRT515930	hsa-miR-519a-3p	HITS-CLIP	23824327
MIRT515929	hsa-miR-519b-3p	HITS-CLIP	23824327
MIRT515928	hsa-miR-519c-3p	HITS-CLIP	23824327
MIRT515927	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT515926	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT515925	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT515924	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT515923	hsa-miR-302e	HITS-CLIP	23824327
MIRT515922	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT515921	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT515920	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT515919	hsa-miR-520b	HITS-CLIP	23824327
MIRT515918	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT515917	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT515916	hsa-miR-520e	HITS-CLIP	23824327
MIRT515914	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT667426	hsa-miR-4454	HITS-CLIP	23824327
MIRT667425	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT667424	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT515910	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT515930	hsa-miR-519a-3p	PAR-CLIP	23446348
MIRT515929	hsa-miR-519b-3p	PAR-CLIP	23446348
MIRT515928	hsa-miR-519c-3p	PAR-CLIP	23446348
MIRT515927	hsa-miR-302a-3p	PAR-CLIP	23446348
MIRT515926	hsa-miR-302b-3p	PAR-CLIP	23446348
MIRT515925	hsa-miR-302c-3p	PAR-CLIP	23446348
MIRT515924	hsa-miR-302d-3p	PAR-CLIP	23446348
MIRT515923	hsa-miR-302e	PAR-CLIP	23446348
MIRT515922	hsa-miR-372-3p	PAR-CLIP	23446348
MIRT515921	hsa-miR-373-3p	PAR-CLIP	23446348
MIRT515920	hsa-miR-520a-3p	PAR-CLIP	23446348
MIRT515919	hsa-miR-520b	PAR-CLIP	23446348
MIRT515918	hsa-miR-520c-3p	PAR-CLIP	23446348
MIRT515917	hsa-miR-520d-3p	PAR-CLIP	23446348
MIRT515916	hsa-miR-520e	PAR-CLIP	23446348
MIRT515915	hsa-miR-2114-5p	PAR-CLIP	23446348
MIRT515914	hsa-miR-512-3p	PAR-CLIP	23446348
MIRT515913	hsa-miR-6128	PAR-CLIP	23446348
MIRT515912	hsa-miR-3135b	PAR-CLIP	23446348
MIRT515911	hsa-miR-1287-5p	PAR-CLIP	23446348
MIRT515910	hsa-miR-18a-3p	PAR-CLIP	23446348
MIRT515930	hsa-miR-519a-3p	HITS-CLIP	23824327
MIRT515929	hsa-miR-519b-3p	HITS-CLIP	23824327
MIRT515928	hsa-miR-519c-3p	HITS-CLIP	23824327
MIRT515927	hsa-miR-302a-3p	HITS-CLIP	23824327
MIRT515926	hsa-miR-302b-3p	HITS-CLIP	23824327
MIRT515925	hsa-miR-302c-3p	HITS-CLIP	23824327
MIRT515924	hsa-miR-302d-3p	HITS-CLIP	23824327
MIRT515923	hsa-miR-302e	HITS-CLIP	23824327
MIRT515922	hsa-miR-372-3p	HITS-CLIP	23824327
MIRT515921	hsa-miR-373-3p	HITS-CLIP	23824327
MIRT515920	hsa-miR-520a-3p	HITS-CLIP	23824327
MIRT515919	hsa-miR-520b	HITS-CLIP	23824327
MIRT515918	hsa-miR-520c-3p	HITS-CLIP	23824327
MIRT515917	hsa-miR-520d-3p	HITS-CLIP	23824327
MIRT515916	hsa-miR-520e	HITS-CLIP	23824327
MIRT515914	hsa-miR-512-3p	HITS-CLIP	23824327
MIRT667426	hsa-miR-4454	HITS-CLIP	23824327
MIRT667425	hsa-miR-4707-3p	HITS-CLIP	23824327
MIRT667424	hsa-miR-6778-3p	HITS-CLIP	23824327
MIRT515910	hsa-miR-18a-3p	HITS-CLIP	23824327
MIRT515930	hsa-miR-519a-3p	PAR-CLIP	23446348
MIRT515929	hsa-miR-519b-3p	PAR-CLIP	23446348
MIRT515928	hsa-miR-519c-3p	PAR-CLIP	23446348
MIRT515927	hsa-miR-302a-3p	PAR-CLIP	23446348
MIRT515926	hsa-miR-302b-3p	PAR-CLIP	23446348
MIRT515925	hsa-miR-302c-3p	PAR-CLIP	23446348
MIRT515924	hsa-miR-302d-3p	PAR-CLIP	23446348
MIRT515923	hsa-miR-302e	PAR-CLIP	23446348
MIRT515922	hsa-miR-372-3p	PAR-CLIP	23446348
MIRT515921	hsa-miR-373-3p	PAR-CLIP	23446348
MIRT515920	hsa-miR-520a-3p	PAR-CLIP	23446348
MIRT515919	hsa-miR-520b	PAR-CLIP	23446348
MIRT515918	hsa-miR-520c-3p	PAR-CLIP	23446348
MIRT515917	hsa-miR-520d-3p	PAR-CLIP	23446348
MIRT515916	hsa-miR-520e	PAR-CLIP	23446348
MIRT515915	hsa-miR-2114-5p	PAR-CLIP	23446348
MIRT515914	hsa-miR-512-3p	PAR-CLIP	23446348
MIRT515913	hsa-miR-6128	PAR-CLIP	23446348
MIRT515912	hsa-miR-3135b	PAR-CLIP	23446348
MIRT515911	hsa-miR-1287-5p	PAR-CLIP	23446348
MIRT515910	hsa-miR-18a-3p	PAR-CLIP	23446348
MIRT2041426	hsa-miR-1285	CLIP-seq
MIRT2041427	hsa-miR-3184	CLIP-seq
MIRT2041428	hsa-miR-3187-5p	CLIP-seq
MIRT2041429	hsa-miR-423-5p	CLIP-seq
MIRT2041430	hsa-miR-4463	CLIP-seq
MIRT2041431	hsa-miR-4494	CLIP-seq
MIRT2041432	hsa-miR-4688	CLIP-seq
MIRT2041433	hsa-miR-4771	CLIP-seq
MIRT2041434	hsa-miR-486-3p	CLIP-seq
MIRT2041435	hsa-miR-612	CLIP-seq
MIRT2390837	hsa-miR-1207-3p	CLIP-seq
MIRT2390838	hsa-miR-342-5p	CLIP-seq
MIRT2390839	hsa-miR-4447	CLIP-seq
MIRT2390840	hsa-miR-4472	CLIP-seq
MIRT2390841	hsa-miR-4525	CLIP-seq
MIRT2390842	hsa-miR-4651	CLIP-seq
MIRT2390843	hsa-miR-4664-5p	CLIP-seq
MIRT2390844	hsa-miR-4731-5p	CLIP-seq
MIRT2390845	hsa-miR-608	CLIP-seq
MIRT2570088	hsa-miR-1915	CLIP-seq
MIRT2570089	hsa-miR-361-3p	CLIP-seq
MIRT2570090	hsa-miR-4446-3p	CLIP-seq
MIRT2570091	hsa-miR-4685-5p	CLIP-seq
MIRT2041426	hsa-miR-1285	CLIP-seq
MIRT2684873	hsa-miR-188-3p	CLIP-seq
MIRT2041427	hsa-miR-3184	CLIP-seq
MIRT2041428	hsa-miR-3187-5p	CLIP-seq
MIRT2684874	hsa-miR-34a	CLIP-seq
MIRT2684875	hsa-miR-34c-5p	CLIP-seq
MIRT2570089	hsa-miR-361-3p	CLIP-seq
MIRT2041429	hsa-miR-423-5p	CLIP-seq
MIRT2041430	hsa-miR-4463	CLIP-seq
MIRT2041431	hsa-miR-4494	CLIP-seq
MIRT2684876	hsa-miR-449a	CLIP-seq
MIRT2684877	hsa-miR-449b	CLIP-seq
MIRT2041432	hsa-miR-4688	CLIP-seq
MIRT2041433	hsa-miR-4771	CLIP-seq
MIRT2041434	hsa-miR-486-3p	CLIP-seq
MIRT2684878	hsa-miR-491-5p	CLIP-seq
MIRT2041435	hsa-miR-612	CLIP-seq
MIRT2684879	hsa-miR-661	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0001527	Component	Microfibril	IBA
GO:0001527	Component	Microfibril	IDA	24353434
GO:0001527	Component	Microfibril	IEA
GO:0001968	Function	Fibronectin binding	IEA
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231, 28327460, 28675934
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0030220	Process	Platelet formation	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28327460, 28675934
GO:0048048	Process	Embryonic eye morphogenesis	IBA
GO:0048048	Process	Embryonic eye morphogenesis	IEP	25406291
GO:0048050	Process	Post-embryonic eye morphogenesis	IEP	25406291
GO:0070051	Function	Fibrinogen binding	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	IEA
GO:0120162	Process	Positive regulation of cold-induced thermogenesis	ISS	24458361

MIM	HGNC	e!Ensembl
156790	7033	ENSG00000117122

P55001

Protein name

Microfibrillar-associated protein 2 (MFAP-2) (Microfibril-associated glycoprotein 1) (MAGP) (MAGP-1)

Protein function

Component of the elastin-associated microfibrils.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF05507	MAGP	1 → 151	Microfibril-associated glycoprotein (MAGP)	Family
PF01549	ShK	152 → 183	ShK domain-like	Domain

Sequence

MRAAYLFLLFLPAGLLAQGQYDLDPLPPFPDHVQYTHYSDQIDNPDYYDYQEVTPRPSEE
QFQFQSQQQVQQEVIPAPTPEPGNAELEPTEPGPLDCREEQYPCTRLYSIHRPCKQCLNE
VCFYSLRRVYVINKEICVRTVCAHEELLRADLCRDKFSKCGVMASSGLCQSVAASCARSC
GSC

Sequence length

183

Interactions

View interactions

	Reactome
			Elastic fibre formation Molecules associated with elastic fibres

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (3)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
CHRONIC OBSTRUCTIVE PULMONARY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CYSTS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (28)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Blood Coagulation Disorders	Blood Coagulation Disorders	BEFREE	18625713		★★★★★ ★☆☆☆☆ Found in Text Mining only
Borderline Personality Disorder	Borderline personality disorder	Pubtator	25612291	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	34445187	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33280519	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Ovarian Epithelial	Epithelial ovarian carcinoma	Pubtator	33246661	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	GWASCAT_DG	30804561		★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34445187	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	39844333	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cataract	Congenital Cataract	BEFREE	18843385		★★★★★ ★☆☆☆☆ Found in Text Mining only
Corpus Luteum Cyst	Corpus Luteum Cyst	CTD_human_DG	21239663		★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus, Non-Insulin-Dependent	Diabetes Mellitus	BEFREE	29717269		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	34445187	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	30034240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	29519758, 29524629		★★★★★ ★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic syndrome	Pubtator	33280519, 37592847	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	18625713, 30034240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	34445187	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	Pubtator	39844333	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteopenia	Osteopenia	BEFREE	30034240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Cysts	Ovarian Cysts	CTD_human_DG	21239663		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	39972314	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	39754246	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	33280519	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	37592847	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	30034240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	30034240		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	31894266	Stimulate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	33758160, 34868341, 35356627, 37304872	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

MFAP2 (microfibril associated protein 2)