• Gene id: 5345

Gene Summary

• Gene Symbol: SERPINF2   Gene   UCSC   Ensembl
• Aliases: A2AP, AAP, ALPHA-2-PI, API, PLI
• Gene name: serpin family F member 2
• Alternate names: alpha-2-antiplasmin, alpha-2-AP, alpha-2-plasmin inhibitor, plasmin inhibitor, serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2, serpin F2, serpin peptidase inhibitor, clade F (alpha-2 antipla,
• Gene location: 17p13.3 (1742807: 1755264)     Exons: 12     NC_000017.11
• Gene summary(Entrez): This gene encodes a member of the serpin family of serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the
• OMIM: 613168

SNPs

rs3779456

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.27174938T>C
NC_000007.13   g.27214557T>C|SEQ=[T/C]|GENE=HOXA10
HOXA10-HOXA9   100534589

Protein Summary

• Protein general information: P08697  
  • Name: Alpha 2 antiplasmin (Alpha 2 AP) (Alpha 2 plasmin inhibitor) (Alpha 2 PI) (Serpin F2)
  • Length: 491  
  • Mass: 54566
  • Tissue specificity: Expressed by the liver and secreted in plasma.
• Sequence:

  MALLWGLLVLSWSCLQGPCSVFSPVSAMEPLGRQLTSGPNQEQVSPLTLLKLGNQEPGGQTALKSPPGVCSRDPT
  PEQTHRLARAMMAFTADLFSLVAQTSTCPNLILSPLSVALALSHLALGAQNHTLQRLQQVLHAGSGPCLPHLLSR
  LCQDLGPGAFRLAARMYLQKGFPIKEDFLEQSEQLFGAKPVSLTGKQEDDLANINQWVKEATEGKIQEFLSGLPE
  DTVLLLLNAIHFQGFWRNKFDPSLTQRDSFHLDEQFTVPVEMMQARTYPLRWFLLEQPEIQVAHFPFKNNMSFVV
  LVPTHFEWNVSQVLANLSWDTLHPPLVWERPTKVRLPKLYLKHQMDLVATLSQLGLQELFQAPDLRGISEQSLVV
  SGVQHQSTLELSEVGVEAAAATSIAMSRMSLSSFSVNRPFLFFIFEDTTGLPLFVGSVRNPNPSAPRELKEQQDS
  PGNKDFLQSLKGFPRGDKLFGPDLKLVPPMEEDYPQFGSPK

• Structural information:
  • Interpro: IPR033833  IPR023795  IPR023796  IPR000215  IPR036186   IPR042178  IPR042185  
  • Prosite: PS00284
  • CDD: cd02053
  • STRING: ENSP00000321853
• Other Databases: GeneCards:  SERPINF2  Malacards:  SERPINF2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005615	extracellular space	IBA	cellular component
GO:0004867	serine-type endopeptidase inhibitor activity	IBA	molecular function
GO:0010951	negative regulation of endopeptidase activity	IBA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0051918	negative regulation of fibrinolysis	IEA	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0010466	negative regulation of peptidase activity	IEA	biological process
GO:0030414	peptidase inhibitor activity	IEA	molecular function
GO:0006953	acute-phase response	IEA	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0004866	endopeptidase inhibitor activity	TAS	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular function
GO:0002576	platelet degranulation	TAS	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	TAS	molecular function
GO:0031093	platelet alpha granule lumen	TAS	cellular component
GO:0042730	fibrinolysis	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0048514	blood vessel morphogenesis	IEA	biological process
GO:0045597	positive regulation of cell differentiation	IEA	biological process
GO:0002034	regulation of blood vessel diameter by renin-angiotensin	IEA	biological process
GO:0051918	negative regulation of fibrinolysis	IEA	biological process
GO:0010033	response to organic substance	IEA	biological process
GO:0005615	extracellular space	IEA	cellular component
GO:0071636	positive regulation of transforming growth factor beta production	IEA	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0032967	positive regulation of collagen biosynthetic process	IEA	biological process
GO:0030199	collagen fibril organization	IEA	biological process
GO:0004867	serine-type endopeptidase inhibitor activity	IEA	molecular function
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	IDA	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0005577	fibrinogen complex	IDA	cellular component
GO:0005615	extracellular space	IDA	cellular component
GO:0010757	negative regulation of plasminogen activation	IDA	biological process
GO:0045597	positive regulation of cell differentiation	IDA	biological process
GO:0051496	positive regulation of stress fiber assembly	IDA	biological process
GO:0051918	negative regulation of fibrinolysis	IDA	biological process
GO:0002034	regulation of blood vessel diameter by renin-angiotensin	ISS	biological process
GO:0048514	blood vessel morphogenesis	ISS	biological process
GO:2000049	positive regulation of cell-cell adhesion mediated by cadherin	TAS	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0032967	positive regulation of collagen biosynthetic process	IDA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0046330	positive regulation of JNK cascade	IDA	biological process
GO:0070374	positive regulation of ERK1 and ERK2 cascade	IDA	biological process
GO:0071636	positive regulation of transforming growth factor beta production	IDA	biological process
GO:0071636	positive regulation of transforming growth factor beta production	IDA	biological process
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0030199	collagen fibril organization	ISS	biological process
GO:0048661	positive regulation of smooth muscle cell proliferation	ISS	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0004867	serine-type endopeptidase inhibitor activity	NAS	molecular function
GO:0002020	protease binding	IPI	molecular function
GO:0005576	extracellular region	NAS	cellular component
GO:0072562	blood microparticle	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04610	Complement and coagulation cascades

Diseases

Associated diseases	References
Alpha-2-plasmin inhibitor	KEGG:H00983
Alpha-2-plasmin inhibitor	KEGG:H00983
Pre-eclampsia	PMID:1334334
Hypertension	PMID:9361364
Coronary artery disease	PMID:9184412
systemic scleroderma	PMID:12595617
Cryptorchidism	MIK: 28606200
Male infertility	MIK: 26361204
Embryo quality	MIK: 26361204
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
26361204	Male infertility, Embryo quality			181 (127 men undergoing IVF treatment, 54 normozoospermic, fertile men)	Male infertility	Microarray