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SERPINF2 serpin family F member 2 [ Homo sapiens (human) ]

Gene ID: 5345, updated on 8-Dec-2018

Summary

Official Symbol
SERPINF2provided by HGNC
Official Full Name
serpin family F member 2provided by HGNC
Primary source
HGNC:HGNC:9075
See related
Ensembl:ENSG00000167711 MIM:613168
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AAP; API; PLI; A2AP; ALPHA-2-PI
Summary
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 blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]
Expression
Biased expression in liver (RPKM 275.1) and kidney (RPKM 42.8) See more
Orthologs

Genomic context

See SERPINF2 in Genome Data Viewer
Location:
17p13.3
Exon count:
12
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 17 NC_000017.11 (1742808..1755265)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 17 NC_000017.10 (1646015..1658562)

Chromosome 17 - NC_000017.11Genomic Context describing neighboring genes Neighboring gene MIR22 host gene Neighboring gene microRNA 22 Neighboring gene WD repeat domain 81 Neighboring gene serpin family F member 1 Neighboring gene SET and MYND domain containing 4

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
Anti-plasmin deficiency, congenital
MedGen: C2752081 OMIM: 262850 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
NHGRI GWA Catalog
Discovery and fine mapping of serum protein loci through transethnic meta-analysis.
NHGRI GWA Catalog
Meta-analysis of genome-wide association studies identifies six new Loci for serum calcium concentrations.
NHGRI GWA Catalog

Pathways from BioSystems

  • Blood Clotting Cascade, organism-specific biosystem (from WikiPathways)
    Blood Clotting Cascade, organism-specific biosystemCoagulation is a complex process by which blood forms clots. It is an important part of hemostasis (the cessation of blood loss from a damaged vessel), wherein a damaged blood vessel wall is covered ...
  • Complement and Coagulation Cascades, organism-specific biosystem (from WikiPathways)
    Complement and Coagulation Cascades, organism-specific biosystemBlood coagulation is a series of coordinated and calcium-dependent proenzyme-to-serine protease conversions likely to be localized on the surfaces of activated cells in vivo. It culminates in the for...
  • Complement and coagulation cascades, organism-specific biosystem (from KEGG)
    Complement and coagulation cascades, organism-specific biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Complement and coagulation cascades, conserved biosystem (from KEGG)
    Complement and coagulation cascades, conserved biosystemThe complement system is a proteolytic cascade in blood plasma and a mediator of innate immunity, a nonspecific defense mechanism against pathogens. There are three pathways of complement activation:...
  • Dissolution of Fibrin Clot, organism-specific biosystem (from REACTOME)
    Dissolution of Fibrin Clot, organism-specific biosystemThe crosslinked fibrin multimers in a clot are broken down to soluble polypeptides by plasmin, a serine protease. Plasmin can be generated from its inactive precursor plasminogen and recruited to the...
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
    Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
  • Platelet degranulation, organism-specific biosystem (from REACTOME)
    Platelet degranulation, organism-specific biosystemPlatelets function as exocytotic cells, secreting a plethora of effector molecules at sites of vascular injury. Platelets contain a number of distinguishable storage granules including alpha granules...
  • Response to elevated platelet cytosolic Ca2+, organism-specific biosystem (from REACTOME)
    Response to elevated platelet cytosolic Ca2+, organism-specific biosystemActivation of phospholipase C enzymes results in the generation of second messengers of the phosphatidylinositol pathway. The events resulting from this pathway are a rise in intracellular calcium an...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
endopeptidase inhibitor activity TAS
Traceable Author Statement
more info
PubMed 
protease binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IPI
Inferred from Physical Interaction
more info
PubMed 
serine-type endopeptidase inhibitor activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
serine-type endopeptidase inhibitor activity IDA
Inferred from Direct Assay
more info
PubMed 
serine-type endopeptidase inhibitor activity NAS
Non-traceable Author Statement
more info
PubMed 
serine-type endopeptidase inhibitor activity TAS
Traceable Author Statement
more info
 
Process Evidence Code Pubs
acute-phase response IEA
Inferred from Electronic Annotation
more info
 
blood vessel morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
collagen fibril organization ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
fibrinolysis TAS
Traceable Author Statement
more info
 
negative regulation of endopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
negative regulation of fibrinolysis IDA
Inferred from Direct Assay
more info
PubMed 
negative regulation of plasminogen activation IDA
Inferred from Direct Assay
more info
PubMed 
platelet degranulation TAS
Traceable Author Statement
more info
 
positive regulation of ERK1 and ERK2 cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of JNK cascade IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell differentiation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of cell-cell adhesion mediated by cadherin TAS
Traceable Author Statement
more info
PubMed 
positive regulation of collagen biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of smooth muscle cell proliferation ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of stress fiber assembly IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transforming growth factor beta production IDA
Inferred from Direct Assay
more info
PubMed 
regulation of blood vessel diameter by renin-angiotensin ISS
Inferred from Sequence or Structural Similarity
more info
 
response to organic substance IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
blood microparticle HDA PubMed 
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
collagen-containing extracellular matrix HDA PubMed 
extracellular exosome HDA PubMed 
extracellular region NAS
Non-traceable Author Statement
more info
PubMed 
extracellular region TAS
Traceable Author Statement
more info
 
extracellular space IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular space IDA
Inferred from Direct Assay
more info
PubMed 
fibrinogen complex IDA
Inferred from Direct Assay
more info
PubMed 
platelet alpha granule lumen TAS
Traceable Author Statement
more info
 

General protein information

Preferred Names
alpha-2-antiplasmin
Names
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 antiplasmin, pigment epithelium derived factor), member 2

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_013215.1 RefSeqGene

    Range
    5001..17430
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_885

mRNA and Protein(s)

  1. NM_000934.3NP_000925.2  alpha-2-antiplasmin isoform a precursor

    See identical proteins and their annotated locations for NP_000925.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript. Both variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    BC031592, BX107460, J02654
    Consensus CDS
    CCDS11011.1
    UniProtKB/Swiss-Prot
    P08697
    Related
    ENSP00000321853.3, ENST00000324015.7
    Conserved Domains (1) summary
    cd02053
    Location:82433
    alpha2AP; Alpha2-antiplasmin (alpha2AP) is the primary inhibitor of plasmin, a proteinase that digests fibrin, the main component of blood clots. Alpha2-Antiplasmin forms an inactive 1 : 1 stoichiometric complex with plasmin. It also rapidly crosslinks to fibrin ...
  2. NM_001165920.1NP_001159392.1  alpha-2-antiplasmin isoform a precursor

    See identical proteins and their annotated locations for NP_001159392.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents use of an alternate promoter and 5' UTR, compared to variant 1. Both variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AL564784, BC031592, D00174
    Consensus CDS
    CCDS11011.1
    UniProtKB/Swiss-Prot
    P08697
    Related
    ENSP00000371493.4, ENST00000382061.4
    Conserved Domains (1) summary
    cd02053
    Location:82433
    alpha2AP; Alpha2-antiplasmin (alpha2AP) is the primary inhibitor of plasmin, a proteinase that digests fibrin, the main component of blood clots. Alpha2-Antiplasmin forms an inactive 1 : 1 stoichiometric complex with plasmin. It also rapidly crosslinks to fibrin ...
  3. NM_001165921.1NP_001159393.1  alpha-2-antiplasmin isoform b precursor

    See identical proteins and their annotated locations for NP_001159393.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice site and lacks an alternate exon in the 5' coding region, compared to variant 1. The resulting isoform (b) lacks an internal segment, compared to isoform a.
    Source sequence(s)
    AK303763, AL564784, BC031592, BX107460
    Consensus CDS
    CCDS54064.1
    UniProtKB/Swiss-Prot
    P08697
    Related
    ENSP00000403877.2, ENST00000450523.6
    Conserved Domains (1) summary
    cd02053
    Location:45369
    alpha2AP; Alpha2-antiplasmin (alpha2AP) is the primary inhibitor of plasmin, a proteinase that digests fibrin, the main component of blood clots. Alpha2-Antiplasmin forms an inactive 1 : 1 stoichiometric complex with plasmin. It also rapidly crosslinks to fibrin ...

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000017.11 Reference GRCh38.p12 Primary Assembly

    Range
    1742808..1755265
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017024765.1XP_016880254.1  alpha-2-antiplasmin isoform X1

    Conserved Domains (1) summary
    cd02053
    Location:86437
    alpha2AP; Alpha2-antiplasmin (alpha2AP) is the primary inhibitor of plasmin, a proteinase that digests fibrin, the main component of blood clots. Alpha2-Antiplasmin forms an inactive 1 : 1 stoichiometric complex with plasmin. It also rapidly crosslinks to fibrin ...
  2. XM_024450805.1XP_024306573.1  alpha-2-antiplasmin isoform X1

    Conserved Domains (1) summary
    cd02053
    Location:86437
    alpha2AP; Alpha2-antiplasmin (alpha2AP) is the primary inhibitor of plasmin, a proteinase that digests fibrin, the main component of blood clots. Alpha2-Antiplasmin forms an inactive 1 : 1 stoichiometric complex with plasmin. It also rapidly crosslinks to fibrin ...
  3. XM_005256701.4XP_005256758.2  alpha-2-antiplasmin isoform X2

    Conserved Domains (1) summary
    cd02053
    Location:98449
    alpha2AP; Alpha2-antiplasmin (alpha2AP) is the primary inhibitor of plasmin, a proteinase that digests fibrin, the main component of blood clots. Alpha2-Antiplasmin forms an inactive 1 : 1 stoichiometric complex with plasmin. It also rapidly crosslinks to fibrin ...

Reference GRCh38.p12 ALT_REF_LOCI_1

Genomic

  1. NT_187611.1 Reference GRCh38.p12 ALT_REF_LOCI_1

    Range
    171788..184214
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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