F12 - coagulation factor XII Gene

Homo sapiens

Also known as HAF; HAE3; HAEX

Gene ID: 2161 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Bioactive Molecules (4)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-130260	KRAS inhibitor-4	Inhibitor	/	Unkown
HY-RS03479	CYP4F12 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-RS04627	F12 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-W760183	EM12-SO2F		/	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
Canis familiaris	F12	NCBI	NCBI:489090
Macaca fascicularis	F12	NCBI	NCBI:101925781
Susscrofa domestica	F12	NCBI
Others	F12	NCBI

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