F12 - coagulation factor XII Gene

Also Known as HAF; HAE3; HAEX

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 2161

About F12

Cytogenetic location: 5q35.3 Genomic coordinates (GRCh38): 5:177,402,141-177,409,564 (from NCBI)

This gene has 12 transcripts (splice variants), 187 orthologues, 16 paralogues and is associated with 7 phenotypes. Restricted expression toward liver (RPKM 77.8).

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 domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form Kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged. [provided by RefSeq, Jul 2008]

F12 Products (1)

mRNA	Protein	Name
NM_000505.4	NP_000496.2	coagulation factor XII preproprotein

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	8710908	GOA
enables serine-type endopeptidase activity	IDA IDA: Inferred from direct assay	6793628	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in Factor XII activation	IDA IDA: Inferred from direct assay	18725990	GOA
involved in plasma kallikrein-kinin cascade	IDA IDA: Inferred from direct assay	6793628	GOA
involved in positive regulation of blood coagulation	IDA IDA: Inferred from direct assay	6793628	GOA
involved in positive regulation of fibrinolysis	IDA IDA: Inferred from direct assay	89876	GOA
involved in positive regulation of plasminogen activation	IDA IDA: Inferred from direct assay	89876	GOA
involved in protein autoprocessing	IDA IDA: Inferred from direct assay	18725990	GOA
involved in protein processing	IDA IDA: Inferred from direct assay	18725990	GOA
involved in response to misfolded protein	IDA IDA: Inferred from direct assay	18725990	GOA
involved in zymogen activation	IDA IDA: Inferred from direct assay	89876	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in extracellular space	IDA IDA: Inferred from direct assay	6793628	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

F12 Protein Structure

fn2

EGF

fn1

EGF

Kringle

Trypsin

0
100
200
300
400
500
615 a.a.

Protein Preferred Names	Protein Names
coagulation factor XII	Hageman factor

F12 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	F12	P00748	C1QBP	Homo sapiens	Q07021	Filter Binding	8710908
Intra	F12	P00748	APP	Homo sapiens	P05067	Y2H Array	32814053
Intra	F12	P00748	APP	Homo sapiens	P05067	Validated Y2H	32814053
Intra	F12	P00748	APP	Homo sapiens	P05067	Y2H Pooling	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Angioedema, Hereditary, 3	Angioedema, Hereditary, Type Iii Hereditary Angioedema Type Iii Hereditary Angioedema Type 3 HAE3 Estrogen-Related Hae Estrogen-Sensitive Hae Angioneurotic Edema, Hereditary, With Normal C1 Inhibitor Concentration And Function Hae With Normal C1 Inhibitor Concentration And Function Hereditary Angioedema With Normal C1 Inhibitor Activity F12-Related Hereditary Angioedema With Normal C1inh F12-Related Hae With Normal C1 Inhibitor Hae 3 Hae-Iii Hereditary Angioneurotic Edema Type 3 Inherited Estrogen-Associated Angioedema Inherited Estrogen-Associated Angioneurotic Edema Inherited Estrogen-Dependent Angioedema Inherited Estrogen-Dependent Angioneurotic Edema Angioneurotic Edema Hereditary With Normal C1 Inhibitor Concentration And Function Hereditary Angioedema With Normal C1 Esterase Inhibitor Activity
Factor Xii Deficiency	Hageman Factor Deficiency Haf Deficiency Factor Xii Deficiency Disease F12 Deficiency Deficiency, Hageman Coagulation Factor 12 Deficiency Factor 12 Deficiency Congenital Factor Xii Deficiency Congenital Hageman Factor Deficiency FA12D Factor Xii Deficiency, Factor Xii
Angioedema	Angioneurotic Oedema Quincke'S Edema Angioneurotic Edema Giant Urticaria
Urticaria	Nettle Rash Hives Wheal Urticaria Nos
F12-Associated Cold Autoinflammatory Syndrome
Hereditary Angioedema	Hereditary Angioneurotic Edema Hereditary Angioedema Type 1 Hane Angioedema, Hereditary Hae Angioedemas, Hereditary Deficiency Of C1 Esterase Inhibitor C1 Esterase Inhibitor Deficiency C1 Inhibitor Deficiency Familial Angioneurotic Edema Hereditary Bradykinine-Induced Angioedema Hereditary Non Histamine-Induced Angioedema Hae 1 Hae-I Hereditary Angioneurotic Edema Type 1 Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor Hereditary Angioedema Types I And Ii Hereditary Angioneurotic Oedema Familial Angioedema Hae - [Hereditary Angioneurotic Oedema] Bannister Disease, Hereditary Quincke Disease Or Oedema Hereditary Quincke Oedema
Angioedema, Hereditary, 1	Hereditary Angioedema Type I Hereditary Angioneurotic Edema Hane C1 Esterase Inhibitor Deficiency Angioedema, Hereditary, 1 And 2 HAE1 Angioneurotic Edema, Hereditary Angioedema, Hereditary, Type I Hereditary Angioedema Type 2 Hae 2 Hae-Ii Hereditary Angioneurotic Edema Type 2 Angioedema, Hereditary HAE Angioedema, Hereditary, Types I And Ii Hereditary Angioedema, Type Ii Angioedema, Hereditary, Type 1 Angioedemas, Hereditary Hereditary C1 Esterase Inhibitor Deficiency - Dysfunctional Factor Hereditary C1 Esterase Inhibitor Deficiency - Deficient Factor Hereditary Angioedema Types I And Ii
Bilirubin Metabolic Disorder	Hyperbilirubinemia Hereditary Hyperbilirubinemia Hyperbilirubinemia, Hereditary Hyperbilirubinaemia
Hypertension, Essential	Essential Hypertension Hypertension High Blood Pressure Hypertension, Essential, Susceptibility To Hypertensive Disease Primary Hypertension EHT Hypertension, Salt-Sensitive Essential, Susceptibility To Hyperpiesia Idiopathic Hypertension Hypertensive Disorder Hypertension, Essential, Susceptibility To, 3 Hypertension, Essential 3 Hypertension, Essential, Salt-Sensitive Hypertension, Essential, Susceptibility To, 6 Hypertension, Essential 6 Hypertension, Salt-Sensitive Essential Hypertension, Susceptibility To Hypertension, Essential, Susceptibility To, 4 Hypertension, Essential 4 Hypertension, Essential, Susceptibility To, 2 Hypertension, Essential 2 Hypertension, Essential, Susceptibility To, 1 Hypertension, Essential 1 Hypertension, Essential, Susceptibility To, 5 Hypertension, Essential 5 Htn Vascular Hypertensive Disorder Systemic Primary Arterial Hypertension Hbp - [High Blood Pressure] Systemic Arterial Hypertensive Disorder Elevated Blood Pressure Arterial Hypertension Nos Hypertension Nos Benign Hypertension Systemic Arterial Hypertension Systemic Hypertension Artery Htn Benign Htn Vascular Htn Vascular Hypertension Cholesterol Hypertension Cholesterol Htn Idiopathic Htn Malignant Hypertension Malignant Htn Raised Blood Pressure Cardiovascular Hypertension Primary Htn - [Hypertension] High Arterial Tension High Blood Pressure Disorder Ht - [Hypertension] Htn - [Hypertension] Hypertensive Vascular Disease Hypertensive Vascular Degeneration
Factor Xi Deficiency	Plasma Thromboplastin Antecedent Deficiency Rosenthal Syndrome Pta Deficiency Hemophilia C Rosenthal Factor Deficiency F11 Deficiency Congenital Factor Xi Deficiency Hereditary Factor Xi Deficiency Disease Haemophilia C Factor Xi Deficiency, Autosomal Dominant Rosenthal'S Disease Factor 11 Deficiency Factor Xi Factor Xi Deficiency, Autosomal Recessive Factor Xi Deficiency, Congenital FA11D Thromboplastin Antecedent Deficiency Pta - [Plasma Thromboplastin Antecedent] Deficiency Congenital Factor Xi Deficiency Disease Rosenthal Disease
High Molecular Weight Kininogen Deficiency	HMWK DEFICIENCY Fitzgerald Trait Congenital High-Molecular-Weight Kininogen Deficiency Flaujeac Factor Deficiency Kininogen Deficiency, High Molecular Weight Kininogen Deficiency Hmwk High-Molecular-Weight Kininogen Deficiency, Congenital
Acquired Angioedema	Acquired C1 Inhibitor Deficiency Angioedema, Acquired Aae Acquired Angioneurotic Edema Acquired Bradykinine-Induced Angioedema Acquired Non Histamine-Induced Angioedema Acquired Angioneurotic Oedema Aae - [Acquired Angioneurotic Oedema]
Cerebrovascular Disease	Cerebrovascular Disorder Cerebrovascular Accident Cerebrovascular Disorders Cva Stroke
C1 Inhibitor Deficiency	Quincke Edema Angioedemas, Hereditary Angioedema
Shwartzman Phenomenon	Shwartzman Reaction
Periodontosis	Periodontitis, Juvenile Parodontosis Paradentosis
Thrombosis	Thrombosis Of Blood Vessel
Arthrogryposis, Distal, Type 2b2	DA2B2 Distal Arthrogryposis Type 2b2 Arthrogryposis, Distal, 2b2
Arthrogryposis, Distal, Type 2b1	Sheldon-Hall Syndrome Freeman-Sheldon Syndrome Variant Distal Arthrogryposis Type 2b1 DA2B1 Arthrogryposis Multiplex Congenita, Distal, Type 2b Shs Distal Arthrogryposis Type 2b Fssv Arthrogryposis Multiplex Congenita Distal Type 2b Arthrogryposis Multiplex Congenita Distal Type Ii With Craniofacial Abnormalities Da2b Arthrogryposis Multiplex Congenita, Distal, Type Ii, With Craniofacial Abnormalities Distal Arthrogryposis Type Iib Freeman Sheldon Syndrome, Variant Freeman Sheldon Variant Arthrogryposis, Distal, 2b1 Amcd2b
Necrotizing Ulcerative Gingivitis	Acute Necrotizing Ulcerative Gingivitis Anug Vincent Angina Vincent'S Disease Acute Necrotising Ulcerative Gingivitis Acute Necrotising Ulcerative Gingivostomatitis Acute Necrotizing Ulcerative Gingivostomatitis Acute Ulceromembranous Gingivitis Angina - Vincents Early Acute Necrotising Gingivitis Trench Mouth Vincent'S Angina Vincent'S Angina - Pharyngitis Vincent'S Infection, Any Site Acute Membranous Gingivitis Fusospirillary Gingivitis Fusospirillosis Phagedenic Gingivitis Vincent'S Gingivitis Vincent'S Infection Vincent'S Stomatitis Gingivitis, Necrotizing Ulcerative
Patent Foramen Ovale	Atrial Septal Defect Within Oval Fossa Foramen Ovale Patent Ostium Secundum Atrial Septal Defect Atrial Septal Defect, Ostium Secundum Type Foramen Ovale, Patent Defect, Patent Or Persistent, Ostium Secundum Ostium Secundum Type Atrial Septal Defect Persistent Ostium Secundum Asd Ostium Secundum Type Ostium Secundum Asd Osasd Asd, Ostium Secundum Type Pfo - [Patent Foramen Ovale] Open Foramen Ovale Open Oval Foramen Persistent Foramen Ovale Secundum Atrial Septal Defect

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (8)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-150287	Insulin-Transferrin-Selenium, 100X		/	Unkown
HY-W760183	EM12-SO2F		99.15%	Unkown
HY-130260	KRAS inhibitor-4	Inhibitor	/	Unkown
HY-RS03479	CYP4F12 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS04627	F12 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-W143313	1,2-Heptanediol		98.0%	Unkown
HY-RS16842	F12 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS23284	F12 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Inhibitory Antibodies (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-P990150	Anti-Mouse TSLP Antibody (28F12)	Inhibitor	98.395%	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	F12	VGNC	VGNC:62020
Macaca mulatta	F12	VGNC	VGNC:72461
Rattus norvegicus	F12	RGD	RGD:1359175
Mus musculus	F12	MGD	MGI:1891012
Bos taurus	F12	VGNC	VGNC:28679
Others	F12	NCBI