• Gene id: 4237

Gene Summary

• Gene Symbol: MFAP2   Gene   UCSC   Ensembl
• Aliases: MAGP, MAGP-1, MAGP1
• Gene name: microfibril associated protein 2
• Alternate names: microfibrillar-associated protein 2, microfibril-associated glycoprotein 1, microfibrillar associated protein 2,
• Gene location: 1p36.13 (151877114: 151556113)     Exons: 22     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 156790

Protein Summary

• Protein general information: P55001  
  • Name: Microfibrillar associated protein 2 (MFAP 2) (Microfibril associated glycoprotein 1) (MAGP) (MAGP 1)
  • Length: 183  
  • Mass: 20826
• Sequence:

  MRAAYLFLLFLPAGLLAQGQYDLDPLPPFPDHVQYTHYSDQIDNPDYYDYQEVTPRPSEEQFQFQSQQQVQQEVI
  PAPTPEPGNAELEPTEPGPLDCREEQYPCTRLYSIHRPCKQCLNEVCFYSLRRVYVINKEICVRTVCAHEELLRA
  DLCRDKFSKCGVMASSGLCQSVAASCARSCGSC

• Structural information:
  • Protein Domains: (153..18-)
    (/note="ShKT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU01005"-)
  • Interpro: IPR008673  IPR003582  
  • Prosite: PS51670
  • STRING: ENSP00000364685
• Other Databases: GeneCards:  MFAP2  Malacards:  MFAP2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001527	microfibril	IDA	cellular component
GO:0048048	embryonic eye morphogenesis	IBA	biological process
GO:0001527	microfibril	IBA	cellular component
GO:0001527	microfibril	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0120162	positive regulation of cold-induced thermogenesis	ISS	biological process
GO:0048048	embryonic eye morphogenesis	IEP	biological process
GO:0048050	post-embryonic eye morphogenesis	IEP	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq