MFAP2

Microfibrillar-associated protein 2 is a protein that in humans is encoded by the MFAP2 gene.[5][6]

MFAP2
Identifiers
AliasesMFAP2, MAGP, MAGP-1, MAGP1, microfibrillar associated protein 2, microfibril associated protein 2
External IDsOMIM: 156790 MGI: 99559 HomoloGene: 1801 GeneCards: MFAP2
Gene location (Human)
Chr.Chromosome 1 (human)[1]
Band1p36.13Start16,974,502 bp[1]
End16,980,632 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

4237

17150

Ensembl

ENSG00000117122

ENSMUSG00000060572

UniProt

P55001

P55002
Q99PM0

RefSeq (mRNA)

NM_001135247
NM_001135248
NM_002403
NM_017459

NM_001161799
NM_008546
NM_001369292

RefSeq (protein)

NP_001128719
NP_001128720
NP_002394
NP_059453

NP_001155271
NP_032572
NP_001356221

Location (UCSC)Chr 1: 16.97 – 16.98 MbChr 4: 141.01 – 141.02 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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. This gene encodes two transcripts with two alternatively spliced 5' untranslated exons. These two transcripts contain the same eight coding exons, and therefore, encode the same protein.[6]

References

  1. GRCh38: Ensembl release 89: ENSG00000117122 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000060572 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Faraco J, Bashir M, Rosenbloom J, Francke U (Jun 1995). "Characterization of the human gene for microfibril-associated glycoprotein (MFAP2), assignment to chromosome 1p36.1-p35, and linkage to D1S170". Genomics. 25 (3): 630–7. doi:10.1016/0888-7543(95)80004-6. PMID 7759096.
  6. "Entrez Gene: MFAP2 microfibrillar-associated protein 2".

Further reading


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