• Gene id: 4239

Gene Summary

• Gene Symbol: MFAP4   Gene   UCSC   Ensembl
• Gene name: microfibril associated protein 4
• Alternate names: microfibril-associated glycoprotein 4, microfibrillar associated protein 4,
• Gene location: 17p11.2 (19387189: 19383444)     Exons: 6     NC_000017.11
• Gene summary(Entrez): This gene encodes a protein with similarity to a bovine microfibril-associated protein. The protein has binding specificities for both collagen and carbohydrate. It is thought to be an extracellular matrix protein which is involved in cell adhesion or int
• OMIM: 600596

Protein Summary

• Protein general information: P55083  
  • Name: Microfibril associated glycoprotein 4
  • Length: 255  
  • Mass: 28648
• Sequence:

  MKALLALPLLLLLSTPPCAPQVSGIRGDALERFCLQQPLDCDDIYAQGYQSDGVYLIYPSGPSVPVPVFCDMTTE
  GGKWTVFQKRFNGSVSFFRGWNDYKLGFGRADGEYWLGLQNMHLLTLKQKYELRVDLEDFENNTAYAKYADFSIS
  PNAVSAEEDGYTLFVAGFEDGGAGDSLSYHSGQKFSTFDRDQDLFVQNCAALSSGAFWFRSCHFANLNGFYLGGS
  HLSYANGINWAQWKGFYYSLKRTEMKIRRA

• Structural information:
  • Protein Domains: (32..25-)
    (/note="Fibrinogen-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00739"-)
  • Interpro: IPR036056  IPR002181  
  • Prosite: PS51406
  • CDD: cd00087
  • STRING: ENSP00000378957
• Other Databases: GeneCards:  MFAP4  Malacards:  MFAP4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0062023	collagen-containing extracellular matrix	IBA	cellular component
GO:0048251	elastic fiber assembly	IBA	biological process
GO:0062023	collagen-containing extracellular matrix	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005201	extracellular matrix structural constituent	RCA	molecular function
GO:0005576	extracellular region	IDA	cellular component
GO:0009650	UV protection	IDA	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0010712	regulation of collagen metabolic process	IDA	biological process
GO:0097435	supramolecular fiber organization	IDA	biological process
GO:0071953	elastic fiber	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0048251	elastic fiber assembly	IDA	biological process
GO:0071493	cellular response to UV-B	IDA	biological process
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	colocalizes with
GO:0001527	microfibril	IDA	cellular component
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005576	extracellular region	HDA	cellular component
GO:0001527	microfibril	NAS	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881