• Gene id: 8076

Gene Summary

• Gene Symbol: MFAP5   Gene   UCSC   Ensembl
• Aliases: AAT9, MAGP-2, MAGP2, MFAP-5, MP25
• Gene name: microfibril associated protein 5
• Alternate names: microfibrillar-associated protein 5, THE1A-MFAP5, microfibril-associated glycoprotein-2, microfibrillar associated protein 5,
• Gene location: 12p13.31 (8662825: 8645942)     Exons: 11     NC_000012.12
• Gene summary(Entrez): This gene encodes a 25-kD microfibril-associated glycoprotein which is a component of microfibrils of the extracellular matrix. The encoded protein promotes attachment of cells to microfibrils via alpha-V-beta-3 integrin. Deficiency of this gene in mice r
• OMIM: 601103

Protein Summary

• Protein general information: Q13361  
  • Name: Microfibrillar associated protein 5 (MFAP 5) (MP25) (Microfibril associated glycoprotein 2) (MAGP 2)
  • Length: 173  
  • Mass: 19612
• Sequence:

  MSLLGPKVLLFLAAFIITSDWIPLGVNSQRGDDVTQATPETFTEDPNLVNDPATDETVLAVLADIAPSTDDLASL
  SEKNTTAECWDEKFTCTRLYSVHRPVKQCIHQLCFTSLRRMYIVNKEICSRLVCKEHEAMKDELCRQMAGLPPRR
  LRRSNYFRLPPCENVDLQRPNGL

• Structural information:
  • Interpro: IPR008673  
  • STRING: ENSP00000352455
• Other Databases: GeneCards:  MFAP5  Malacards:  MFAP5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001527	microfibril	IBA	cellular component
GO:0048048	embryonic eye morphogenesis	IBA	biological process
GO:0060216	definitive hemopoiesis	ISS	biological process
GO:0001527	microfibril	ISS	cellular component
GO:0001527	microfibril	IEA	cellular component
GO:0005576	extracellular region	IEA	cellular component
GO:0005201	extracellular matrix structural constituent	TAS	molecular function
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:0097435	supramolecular fiber organization	IEA	biological process
GO:0060216	definitive hemopoiesis	IEA	biological process
GO:0031012	extracellular matrix	IEA	cellular component
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: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:0062023	collagen-containing extracellular matrix	HDA	cellular component

Diseases

Associated diseases	References
Familial thoracic aortic aneurysm and dissection	KEGG:H00801
Familial thoracic aortic aneurysm and dissection	KEGG:H00801
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)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq