Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5345
Gene name Gene Name - the full gene name approved by the HGNC.	Serpin family F member 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	SERPINF2
Synonyms (NCBI Gene) Gene synonyms aliases	A2AP, AAP, ALPHA-2-PI, API, PLI, alpha2AP
Chromosome Chromosome number	17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	17p13.3
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(4)

SNP ID	Visualize variation	Clinical significance	Consequence
rs121965061	AGA>-	Pathogenic	Coding sequence variant, inframe deletion
rs121965062	G>A	Pathogenic	Coding sequence variant, missense variant
rs148395057	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs1597325785	GGCAA>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(58)

miRTarBase ID	miRNA	Experiments	Reference
MIRT437913	hsa-miR-224-5p	qRT-PCR, Western blot	24785373
MIRT662475	hsa-miR-4687-5p	HITS-CLIP	23824327
MIRT662474	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT662473	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT662472	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT662471	hsa-miR-4287	HITS-CLIP	23824327
MIRT662470	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT662469	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT662468	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT662467	hsa-miR-3191-5p	HITS-CLIP	23824327
MIRT662466	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT662465	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT662464	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT662475	hsa-miR-4687-5p	HITS-CLIP	23824327
MIRT662474	hsa-miR-6887-3p	HITS-CLIP	23824327
MIRT662473	hsa-miR-6892-3p	HITS-CLIP	23824327
MIRT662472	hsa-miR-6832-3p	HITS-CLIP	23824327
MIRT662471	hsa-miR-4287	HITS-CLIP	23824327
MIRT662470	hsa-miR-4685-3p	HITS-CLIP	23824327
MIRT662469	hsa-miR-204-5p	HITS-CLIP	23824327
MIRT662468	hsa-miR-211-5p	HITS-CLIP	23824327
MIRT662467	hsa-miR-3191-5p	HITS-CLIP	23824327
MIRT662466	hsa-miR-4768-5p	HITS-CLIP	23824327
MIRT662465	hsa-miR-6833-3p	HITS-CLIP	23824327
MIRT662464	hsa-miR-6809-3p	HITS-CLIP	23824327
MIRT1338900	hsa-miR-124	CLIP-seq
MIRT1338901	hsa-miR-1976	CLIP-seq
MIRT1338902	hsa-miR-4421	CLIP-seq
MIRT1338903	hsa-miR-4504	CLIP-seq
MIRT1338904	hsa-miR-506	CLIP-seq
MIRT1338905	hsa-miR-3147	CLIP-seq
MIRT1338906	hsa-miR-3202	CLIP-seq
MIRT1338907	hsa-miR-34a	CLIP-seq
MIRT1338908	hsa-miR-34c-5p	CLIP-seq
MIRT1338909	hsa-miR-4425	CLIP-seq
MIRT1338910	hsa-miR-4476	CLIP-seq
MIRT1338911	hsa-miR-449a	CLIP-seq
MIRT1338912	hsa-miR-449b	CLIP-seq
MIRT1338913	hsa-miR-450b-3p	CLIP-seq
MIRT1338914	hsa-miR-4713-3p	CLIP-seq
MIRT1338915	hsa-miR-638	CLIP-seq
MIRT1338916	hsa-miR-769-3p	CLIP-seq
MIRT1338905	hsa-miR-3147	CLIP-seq
MIRT1338907	hsa-miR-34a	CLIP-seq
MIRT1338908	hsa-miR-34c-5p	CLIP-seq
MIRT1338909	hsa-miR-4425	CLIP-seq
MIRT1338911	hsa-miR-449a	CLIP-seq
MIRT1338912	hsa-miR-449b	CLIP-seq
MIRT1338913	hsa-miR-450b-3p	CLIP-seq
MIRT1338914	hsa-miR-4713-3p	CLIP-seq
MIRT2325047	hsa-miR-516a-5p	CLIP-seq
MIRT1338915	hsa-miR-638	CLIP-seq
MIRT1338916	hsa-miR-769-3p	CLIP-seq
MIRT2394236	hsa-miR-125a-3p	CLIP-seq
MIRT2394237	hsa-miR-1298	CLIP-seq
MIRT2394238	hsa-miR-3934	CLIP-seq
MIRT2394239	hsa-miR-664	CLIP-seq
MIRT2394240	hsa-miR-764	CLIP-seq

Show/Hide all(49)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002020	Function	Protease binding	IPI	134998, 6980881, 7679575, 15853774, 17317851
GO:0002034	Process	Maintenance of blood vessel diameter homeostasis by renin-angiotensin	IEA
GO:0002034	Process	Maintenance of blood vessel diameter homeostasis by renin-angiotensin	ISS
GO:0004866	Function	Endopeptidase inhibitor activity	IDA	7679575
GO:0004866	Function	Endopeptidase inhibitor activity	TAS	2830248
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IBA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IDA	134998
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	IEA
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	NAS	12878203
GO:0004867	Function	Serine-type endopeptidase inhibitor activity	TAS	2433286
GO:0005515	Function	Protein binding	IPI	12878203, 14687906
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005577	Component	Fibrinogen complex	IDA	17317851
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	6980881
GO:0005615	Component	Extracellular space	IEA
GO:0006953	Process	Acute-phase response	IEA
GO:0009986	Component	Cell surface	IDA	17958745
GO:0010757	Process	Negative regulation of plasminogen activation	IDA	134998
GO:0030199	Process	Collagen fibril organization	IEA
GO:0030199	Process	Collagen fibril organization	ISS	17958745
GO:0030414	Function	Peptidase inhibitor activity	IEA
GO:0031012	Component	Extracellular matrix	HDA	28675934
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0032967	Process	Positive regulation of collagen biosynthetic process	IDA	17958745
GO:0032967	Process	Positive regulation of collagen biosynthetic process	IEA
GO:0042730	Process	Fibrinolysis	TAS
GO:0042803	Function	Protein homodimerization activity	IPI	134998
GO:0045597	Process	Positive regulation of cell differentiation	IDA	20008146
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	17958745
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0046330	Process	Positive regulation of JNK cascade	IDA	20008146
GO:0048514	Process	Blood vessel morphogenesis	IEA
GO:0048514	Process	Blood vessel morphogenesis	ISS
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	IEA
GO:0048661	Process	Positive regulation of smooth muscle cell proliferation	ISS
GO:0050820	Process	Positive regulation of coagulation	IBA
GO:0051496	Process	Positive regulation of stress fiber assembly	IDA	20008146
GO:0051918	Process	Negative regulation of fibrinolysis	IDA	134998
GO:0051918	Process	Negative regulation of fibrinolysis	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	20008146
GO:0071636	Process	Positive regulation of transforming growth factor beta production	IDA	17958745, 20008146
GO:0071636	Process	Positive regulation of transforming growth factor beta production	IEA
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:2000049	Process	Positive regulation of cell-cell adhesion mediated by cadherin	TAS	17203182

MIM	HGNC	e!Ensembl
613168	9075	ENSG00000167711

Protein

UniProt ID

P08697

Protein name

Alpha-2-antiplasmin (Alpha-2-AP) (Alpha-2-plasmin inhibitor) (Alpha-2-PI) (Serpin F2)

Protein function

Serine protease inhibitor. The major targets of this inhibitor are plasmin and trypsin, but it also inactivates matriptase-3/TMPRSS7 and chymotrypsin.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00079	Serpin	84 → 436	Serpin (serine protease inhibitor)	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed by the liver and secreted in plasma.

Sequence

MALLWGLLVLSWSCLQGPCSVFSPVSAMEPLGRQLTSGPNQEQVSPLTLLKLGNQEPGGQ
TALKSPPGVCSRDPTPEQTHRLARAMMAFTADLFSLVAQTSTCPNLILSPLSVALALSHL
ALGAQNHTLQRLQQVLHAGSGPCLPHLLSRLCQDLGPGAFRLAARMYLQKGFPIKEDFLE
QSEQLFGAKPVSLTGKQEDDLANINQWVKEATEGKIQEFLSGLPEDTVLLLLNAIHFQGF
WRNKFDPSLTQRDSFHLDEQFTVPVEMMQARTYPLRWFLLEQPEIQVAHFPFKNNMSFVV
LVPTHFEWNVSQVLANLSWDTLHPPLVWERPTKVRLPKLYLKHQMDLVATLSQLGLQELF
QAPDLRGISEQSLVVSGVQHQSTLELSEVGVEAAAATSIAMSRMSLSSFSVNRPFLFFIF
EDTTGLPLFVGSVRNPNPSAPRELKEQQDSPGNKDFLQSLKGFPRGDKLFGPDLKLVPPM
EEDYPQFGSPK

Sequence length

491

Interactions

View interactions

	KEGG		Reactome
	Complement and coagulation cascades		Platelet degranulation Dissolution of Fibrin Clot

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Alpha-2-Plasmin Inhibitor Deficiency	alpha-2-plasmin inhibitor deficiency	rs121965061, rs121965062	N/A

Show/Hide Unknown Diseases (3)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Alzheimer disease	Alzheimer's disease or family history of Alzheimer's disease	N/A	N/A	GWAS
Diabetes	Severe insulin-deficient type 2 diabetes	N/A	N/A	GWAS
Hypogonadism	Hypogonadism	N/A	N/A	GWAS

Show/Hide Text Mining Associations (30)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Alzheimer Disease	Associate	25129075
Anti plasmin deficiency congenital	Associate	1689597
Apnea	Associate	27861608
Arterial Occlusive Diseases	Stimulate	25069814
Axial Spondyloarthritis	Associate	33317138
Carcinoma Hepatocellular	Associate	16980951, 36316888, 37195148
Carcinoma Non Small Cell Lung	Associate	40211143
Cardiovascular Diseases	Associate	27861608
Corneal Perforation	Associate	23190581
Corneal Ulcer	Associate	23190581
COVID 19	Associate	33571675
Escherichia coli Infections	Associate	17093030
Fibrosis	Inhibit	24034420
Glaucoma Open Angle	Associate	29847670
Hemolysis	Associate	22421605
Hemorrhagic Disorders	Associate	2445779
Inflammation	Associate	23190581
Intracranial Hemorrhages	Associate	33669007
Liver Cirrhosis	Associate	24034420
Myocardial Infarction	Associate	21505192
Neoplasms	Inhibit	16980951
Non alcoholic Fatty Liver Disease	Associate	36260611
Otosclerosis	Inhibit	27056980
Post Acute COVID 19 Syndrome	Associate	36131342
Purpura Fulminans	Associate	24659849
Schizophrenia	Stimulate	29249827
Sleep Apnea Obstructive	Stimulate	27861608
Thrombocythemia Essential	Associate	25989112
Thrombosis	Inhibit	11122093
Tomaculous neuropathy	Associate	156196, 2445779

SERPINF2 (serpin family F member 2)