Microfibrillar-Associated Protein 2

Alternative Names

  • MFAP2
  • Microfibril-Associated Glycoprotein
  • MAGP
  • MAGP1
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OMIM Number

156790

NCBI Gene ID

4237

Uniprot ID

P55001

Length

7,082 bases

No. of Exons

10

No. of isoforms

3

Protein Name

Microfibrillar-associated protein 2

Molecular Mass

20826 Da

Amino Acid Count

183

Genomic Location

chr1:16,974,501-16,981,582

Gene Map Locus
1p36.13

Description

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 this gene. [From RefSeq]

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NC_000001.11:g.16981663C>TUnited Arab EmiratesNC_000001.11:g.16981663C>TNG_029688.1:g.4924G>A; NC_000001.11:g.16981663C>T9435732
NM_017459.3:c.-42+1334G>CUnited Arab EmiratesNC_000001.11:g.16980180C>GAssociationType 2 Diabetes Mellitus; ObesityNG_029688.1:g.6407G>C; NM_017459.3:c.-42+1334G>C; NP_059453.1:p.?2284746
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