F12 (coagulation factor XII)

Gene
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2161
Gene name Gene Name - the full gene name approved by the HGNC.
Coagulation factor XII
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
F12
Synonyms (NCBI Gene) Gene synonyms aliases
HAE3, HAEX, HAF
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q35.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
miRTarBase ID miRNA Experiments Reference
MIRT1988659 hsa-miR-4297 CLIP-seq
Transcription factors
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
ESR1 Activation 9794469
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(36)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
610619 3530 ENSG00000131187
Protein
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
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.
Disease merge term Disease name Evidence References Source
Angioedema hereditary angioedema type 3 N/A N/A GenCC
Hypertension Hypertension (confirmatory factor analysis Factor 12) N/A N/A GWAS
Show/Hide Text Mining Associations (80)
Associations from Text Mining Disease 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