F12 (coagulation factor XII)

Gene Gene information from NCBI Gene database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2161
Gene name Coagulation factor XII
Gene symbol F12
Synonyms (NCBI Gene)
HAE3HAEXHAF
Chromosome 5
Chromosome location 5q35.3
Summary This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type
miRNA miRNA information provided by mirtarbase database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT1988659 hsa-miR-4297 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
ESR1 Activation 9794469
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
36
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0002353 Process Plasma kallikrein-kinin cascade IDA 6793628, 18725990
GO:0002542 Process Factor XII activation IDA 18725990
GO:0004252 Function Serine-type endopeptidase activity IBA
GO:0004252 Function Serine-type endopeptidase activity IDA 6793628, 18725990
GO:0004252 Function Serine-type endopeptidase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610619 3530 ENSG00000131187
Protein Protein information from UniProt database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P00748
Protein name Coagulation factor XII (EC 3.4.21.38) (Hageman factor) (HAF) [Cleaved into: Coagulation factor XIIa heavy chain; Beta-factor XIIa part 1; Coagulation factor XIIa light chain (Beta-factor XIIa part 2)]
Protein function Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII
PDB 4BDW , 4BDX , 4XDE , 4XE4 , 6B74 , 6B77 , 6GT6 , 6L63 , 6QF7 , 6SZW , 6X0S , 6X0T , 7FBP , 7PRJ , 7PRK , 8OS5 , 8R8D
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00040 fn2 47 → 88 Fibronectin type II domain Domain
PF00008 EGF 98 → 129 EGF-like domain Domain
PF00039 fn1 135 → 170 Fibronectin type I domain Domain
PF00008 EGF 178 → 208 EGF-like domain Domain
PF00051 Kringle 217 → 295 Kringle domain Domain
PF00089 Trypsin 373 → 609 Trypsin Domain
Sequence
Sequence length 615
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Complement and coagulation cascades   Intrinsic Pathway of Fibrin Clot Formation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (10)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Angioedema Pathogenic rs118204456 RCV000414902
F12-related disorder Likely pathogenic rs1554097246 RCV004732916
FACTOR XII (LOCARNO) Pathogenic rs118204454 RCV000001224
FACTOR XII (WASHINGTON D.C.) Pathogenic rs1157280571 RCV000001223
Show/Hide Unknown Diseases (11)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Conflicting classifications of pathogenicity rs199988476 RCV005887154
Colon adenocarcinoma Conflicting classifications of pathogenicity rs199988476 RCV005887152
F12 POLYMORPHISM Benign rs1801020 RCV000001226
Familial cancer of breast Likely benign rs17876032 RCV005934769
Show/Hide Text Mining Associations (80)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Habitual Associate 12969703
Abortion Spontaneous Associate 11821096
Acquired angioedema Associate 25196353
Acute Coronary Syndrome Associate 11843842, 18021303
Alexander Disease Associate 37866310
Amyotrophic Lateral Sclerosis Associate 37646115
Anemia Sickle Cell Associate 11719358
Angioedema Associate 17186468, 25196353, 26395818, 36787826
Angioedemas Hereditary Associate 17186468, 25401373, 26395818, 27271546, 30394658, 31771982, 33036649, 33348403, 33593719, 33799813, 36203598, 36720386, 36787826
Anti Neutrophil Cytoplasmic Antibody Associated Vasculitis Associate 37866310