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MFAP2 (microfibril associated protein 2)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
4237
Gene nameGene Name - the full gene name approved by the HGNC.
Microfibril associated protein 2
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
MFAP2
SynonymsGene synonyms aliases
MAGP, MAGP-1, MAGP1
ChromosomeChromosome number
1
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1p36.13
SummarySummary of gene provided in NCBI Entrez Gene.
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
miRNAmiRNA information provided by mirtarbase database.
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
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001527 Component Microfibril IBA 21873635
GO:0001527 Component Microfibril IDA 24353434
GO:0005201 Function Extracellular matrix structural constituent RCA 25037231, 28327460, 28675934
GO:0005515 Function Protein binding IPI 32296183
GO:0005576 Component Extracellular region TAS
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID 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
Sequence length 183
Interactions View interactions
PathwaysPathway information has different metabolic/signaling pathways associated with genes. Each record is hyperlinked to a complete information page which also includes links to the KEGG/Reactome pathway database.
 
Reactome
    Elastic fibre formation
Molecules associated with elastic fibres
Associated diseases
Causal
Disease name Disease term dbSNP ID References
Chronic obstructive pulmonary disease Chronic Obstructive Airway Disease rs2227956, rs1008438, rs1043618, rs562047, rs1061581, rs2763979, rs6457452, rs13147758, rs1828591, rs13118928 30804561
Unknown
Disease name Disease term dbSNP ID References
Corpus luteum cyst Corpus Luteum Cyst 21239663
Ovarian cysts Ovarian Cysts 21239663

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