1. Gene
  2. F12 - coagulation factor XII Gene

F12 - coagulation factor XII Gene

中文名称:凝血因子 XII

种属: Homo sapiens

同用名: HAF; HAE3; HAEX

基因 ID: 2161 | 基因类型: protein coding

关于 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).

功能概要

该基因编码作为酶原在血液中循环的凝血因子 XII。这种单链酶原被转化为具有重链 (α-因子 XIIa) 和轻链的双链丝氨酸蛋白酶。重链包含两个纤连蛋白型结构域、两个表皮生长因子 (EGF) 样结构域、一个三环结构域和一个富含脯氨酸的结构域,而轻链仅包含一个催化结构域。激活后,重链发生进一步切割,导致产生 β-因子 XIIa 轻链,α-因子 XIIa 轻链变成 β-因子 XIIa 重链。前激肽释放酶被因子 XII 裂解形成激肽释放酶,然后激肽释放酶首先将因子 XII 裂解为 α-因子 XIIa,然后再裂解为 β-因子 XIIa。活性因子 XIIa 参与血液凝固、纤维蛋白溶解以及缓激肽和血管紧张素的产生。它激活凝血因子 VII 和 XI。该基因的缺陷不会引起任何临床症状,唯一的影响是全血凝固时间延长。[RefSeq 提供,2008 年 7 月]

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 基因产物(1)

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

F12 蛋白结构

fn2

fn2: Fibronectin type II domain (47 - 88)

EGF

EGF: EGF-like domain (98 - 128)

fn1

fn1: Fibronectin type I domain (135 - 170)

EGF

EGF: EGF-like domain (178 - 207)

Kringle

Kringle: Kringle domain (217 - 295)

Trypsin

Trypsin: Trypsin (374 - 609)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 500
  • 615 a.a.
蛋白主名 其他名称

coagulation factor XII

Hageman factor

关联疾病

疾病名称 别名
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

疾病名称 别名
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

直系同源

种属 基因名 来源 基因 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