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  2. SERPINF2 - serpin family F member 2 Gene

SERPINF2 - serpin family F member 2 Gene

中文名称:serpin 家族 F 成员 2

种属: Homo sapiens

同用名: AAP; API; PLI; A2AP; alpha2AP; ALPHA-2-PI

基因 ID: 5345 | 基因类型: protein coding

关于 SERPINF2

Cytogenetic location: 17p13.3 Genomic coordinates (GRCh38): 17:1,742,871-1,755,265 (from NCBI)

This gene has 5 transcripts (splice variants), 1 gene allele, 256 orthologues, 36 paralogues and is associated with 2 phenotypes. Biased expression in liver (RPKM 275.1) and kidney (RPKM 42.8).

功能概要

该基因编码丝氨酸蛋白酶抑制剂 serpin 家族的一个成员。该蛋白质是纤溶酶的主要抑制剂,可降解纤维蛋白和各种其他蛋白质。因此,该基因的正常功能在调节血液凝固途径中起着重要作用。该基因的突变导致 alpha-2-纤溶酶抑制剂缺乏,其特征是严重的出血素质。已发现该基因编码不同异构体的多个转录变体。[RefSeq 提供,2009 年 9 月]

This gene encodes a member of the serpin family of serine Protease Inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

SERPINF2 基因产物(3)

mRNA Protein Name
NM_000934.4 NP_000925.2 alpha-2-antiplasmin isoform a precursor
NM_001165920.1 NP_001159392.1 alpha-2-antiplasmin isoform a precursor
NM_001165921.2 NP_001159393.1 alpha-2-antiplasmin isoform b precursor
基因本体论
  • 分子功能
  • 生物过程
  • 细胞组分
分子功能 GO 注释 逻辑证据 参考文献 来源
enables endopeptidase inhibitor activity IDA
IDA: 通过直接分析推断
7679575 GOA
enables protease binding IPI
IPI: 通过物理相互作用推断
134998 GOA
enables protein binding IPI
IPI: 通过物理相互作用推断
12878203 GOA
enables protein homodimerization activity IPI
IPI: 通过物理相互作用推断
134998 GOA
enables serine-type endopeptidase inhibitor activity IDA
IDA: 通过直接分析推断
134998 GOA
细胞组分 GO 注释 逻辑证据 参考文献 来源
located in cell surface IDA
IDA: 通过直接分析推断
17958745 GOA
located in extracellular space IDA
IDA: 通过直接分析推断
6980881 GOA
part of fibrinogen complex IDA
IDA: 通过直接分析推断
17317851 GOA
EXP:通过实验结果推断 IDA:通过直接分析推断 IPI:通过物理相互作用推断 IMP:通过突变表型推断 IGI:通过遗传相互作用推断 IEP:通过表达模式推断

SERPINF2 蛋白结构

Serpin

Serpin: Serpin (serine protease inhibitor) (85 - 436)

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

alpha-2-antiplasmin

alpha-2-AP

重组 SERPINF2 蛋白

目录号 产品名 蛋白编号 纯度
HY-P76720 Alpha-2-Antiplasmin/Serpin F2 Protein, Human (HEK293, His) P08697-1/NP_000925.2 (M28-K491) ≥95%

关联疾病

疾病名称 别名
Alpha-2-Plasmin Inhibitor Deficiency

Plasmin Inhibitor Deficiency

Antiplasmin Deficiency

Antiplasmin Defiency

Anti-Plasmin Deficiency, Congenital

Antiplasmin Deficiency, Congenital

Congenital Alpha2-Antiplasmin Deficiency

APLID

Congenital Alpha2 Antiplasmin Deficiency

Factor Xiii Deficiency

Hereditary Factor Xiii Deficiency Disease

Deficiency, Laki-Lorand Factor

Congenital Factor Xiii Deficiency

Fibrin Stabilizing Factor Deficiency

Deficiency, Factor Xiii

Factor Xiii Deficiency Disease

Deficiency Of Factor Xiii

Fibrin-Stabilizing Factor Deficiency

Factor Xiii Deficiency, Congenital

Hemorrhagic Disease

Hemorrhagic Disorders

Hemorrhagic Diathesis

Hemorrhagic Diseases

Bleeding Tendency

Acquired Coagulation Factor Inhibitor Disorder

Acquired Inhibitor Of Coagulation

Antithrombinaemia

Antithromboplastinogenaemia

Circulating Anticoagulant Disorder

Haemorrhagic Disorder Due To Antithrombinaemia

Haemorrhagic Disorder Due To Excess Administered Heparin

Antithromboplastinaemia

Haemorrhagic Disorder Due To Hyperheparinemia

Pulmonary Embolism

Pulmonary Artery Embolism

Pulmonary Embolus

Pulmonary Emboli

Thrombophilia

Hypercoagulability State

Dic In Newborn

Disseminated Intravascular Coagulation In Newborn

Purpura Fulminans

Purpura Gangrenosa

Acute Myocardial Infarction

Cardiac Attack

Heart Attack

Plasminogen Deficiency, Type I

Hypoplasminogenemia

Dysplasminogenemia

Plasminogen Deficiency Type I

Congenital Plasminogen Deficiency

Ligneous Conjunctivitis

Type 1 Plasminogen Deficiency

Plasminogen Deficiency Type 1

Plasminogen Deficiency

PLGD

Plasminogen Deficiency Type Ii

Deficiency, Plasminogen, Type I

Thrombophlebitis

Phlebitis And Thrombophlebitis Of Superficial Vessels Of Lower Extremities

Superficial Thrombophlebitis Of Leg

Thrombophlebitis Of A Superficial Leg Vein

Thrombophlebitis Of Superficial Veins Of Lower Extremity

Thrombosis

Thrombosis Of Blood Vessel

Platelet Aggregation, Spontaneous
Liver Cirrhosis

Cirrhosis

Cirrhosis Of Liver

CIRRH

Cryptogenic Cirrhosis

Cirrhosis, Cryptogenic

Cirrhosis Nos

Disseminated Intravascular Coagulation

Defibrination Syndrome

Dic

Diffuse Or Disseminated Intravascular Coagulation

Fibrinolytic Purpura

Consumption Coagulopathy

Diffuse Intravascular Coagulation

Dic - [Disseminated Intravascular Coagulation]

Disseminated Intravascular Coagulopathy

Fibrinolysis Nos

Thrombolytic Purpura

Afibrinogenemia, Congenital

Congenital Afibrinogenemia

Afibrinogenemia

Factor I Deficiency

Familial Afibrinogenemia

Hypofibrinogenemia, Congenital

Fibrinogen Deficiency

Afibrinogenemia Congenital

CAFBN

Congenital Hypofibrinogenemia

Hypofibrinogenemia

Complement Factor I Deficiency

Bullous Pemphigoid

Benign Pemphigus

Senile Dermatitis Herpetiformis

Old Age Pemphigus

Parapemphigus

Pemphigoid

Pemphigoid Bullous

Pemphigoid, Bullous

Melioidosis

Melioidosis, Susceptibility To

Acute And Fulminating Melioidosis

Nightcliff Gardener'S Disease

Pseudoglanders

Subacute And Chronic Melioidosis

Burkholderia Pseudomallei Infection

Whitmore Disease

Whitmore'S Disease

B Pseudomallei Infection

Epizootic Lymphangitis

Infection Due To Burkholderia Pseudomallei

Infection Due To Burkholderia Pseudomallei Nos

Infection Due To Malleomyces Pseudomallei

Infection Due To Pseudomonas Pseudomallei

Infection Due To Pseudomonas Pseudomallei Nos

Infection Due To Whitmore Bacillus

Stanton Disease

Schistosomiasis

Katayama Fever

Bilharzia

Bilharziasis

Schistosomiasis Mansoni

Blood Fluke

Schistosoma Mansoni Infection

Snail Fever

Acute Schistosomiasis

Schistosomiasis Manson

Schistosomiasis Due To Schistosoma Mansoni [Intestinal Schistosomiasis]

Intestinal Schistosomiasis Nos

Intestinal Schistosomiasis

Egyptian Splenomegaly

Bilharziasis Of Intestine

Schistosomal Dysentery

Schistosomiasis Of Colon

Asiatic Schistosomiasis

Eastern Schistosomiasis

Schistosoma Japonicum Infection

Schistosomiasis Japonicum

Katayama Disease

Katayama Syndrome

Oriental Schistosomiasis

Pneumonic Plague

Primary Pneumonic Plague

Secondary Pneumonic Plague

Plague

Plague, Pneumonic

Plague Pneumonia

Plague Of Lung

Pulmonary Plague

Pneumonia Due To Yersinia Pestis

Perforated Corneal Ulcer
Giant Hemangioma
Ectodermal Dysplasia 10a, Hypohidrotic/Hair/Nail Type, Autosomal Dominant

ECTD10A

Hed

Ectodermal Dysplasia 10a

Ectodermal Dysplasia Hypohidrotic Autosomal Dominant

Autosomal Dominant Hypohidrotic Ectodermal Dysplasia

Ectodermal Dysplasia, Hypohidrotic, Autosomal Dominant

Hypohidrotic Ectodermal Dysplasia Autosomal Dominant

Ad-Hed

Autosomal Dominant Anhidrotic Ectodermal Dysplasia

Ectodermal Dysplasia 3

Ed3

Eda3

Ectodermal Dysplasia, Anhidrotic, Autosomal Dominant

Dysplasia, Ectodermal, Type 10a, Hypohidrotic/Hair/Nail, Autosomal Dominant

Dysplasia, Ectodermal, Type 3

Mullegama-Klein-Martinez Syndrome

MKMS

Nedxcf

Neurodevelopmental Disorder, X-Linked, With Craniofacial Abnormalities

X-Linked Neurodevelopmental Disorder With Craniofacial Abnormalities

Dystonia 25

DYT25

Dystonia-25

Dystonia, Type 25

Torsion Dystonia 2

Dystonia 2, Torsion, Autosomal Recessive

Nephrotic Syndrome

Finnish Congenital Nephrotic Syndrome

Ns - [Nephrotic Syndrome]

Nephrosis Syndrome

Nephrosis Nos

Glomerular Lesion Nephrosis

Fabry Disease

Alpha-Galactosidase A Deficiency

Anderson-Fabry Disease

Angiokeratoma Corporis Diffusum

Ceramide Trihexosidase Deficiency

Fabry Disease, Cardiac Variant

Fabry'S Disease

Hereditary Dystopic Lipidosis

Gla Deficiency

FD

Alpha Galactosidase Deficiency

Deficiency Of Melibiase

Angiokeratoma, Diffuse

Angiokeratoma Diffuse

Diffuse Angiokeratoma

Korean Hemorrhagic Fever

Hemorrhagic Fever With Renal Syndrome

Septicemic Plague

Plague, Septicemic

Livedoid Vasculitis

Livedoid Vasculopathy

Livedo Reticularis With Summer Ulcerations

Livedo Vasculitis

Livedo Reticularis With Winter Ulcerations

Segmental Hyalinizing Vasculopathy

Milian Atrophie Blanche

Segmental Hyalinizing Vasculitis

Livedo Reticularis With Summer Ulceration

Anemia, Congenital Dyserythropoietic, Type Ib

CDAN1B

Congenital Dyserythropoietic Anemia Type Ib

Cda, Type Ib

Congenital Dyserythropoietic Anemia Type Type 1b

Dyserythropoietic Anemia, Congenital, Type Ib

Anemia, Congenital Dyserythropoietic, 1b

Cda Ib

Anemia, Dyserythropoietic, Congenital

Anemia, Dyserythropoietic, Congenital, Type Ib

Bubonic Plague

Black Death

Plague, Bubonic

Plague, Septicemic

Pestis Bubonica

Developmental And Epileptic Encephalopathy 87

DEE87

Epileptic Encephalopathy, Early Infantile, 87

Eiee87

Developmental And Epileptic Encephalopathy, 87

Early Infantile Epileptic Encephalopathy 87

Cataract 9, Multiple Types

Cataract 9 Multiple Types

CTRCT9

Cataract, Autosomal Dominant

Catc1

Cataract 9, Multiple Types, With Or Without Microcornea

Cataract, Autosomal Recessive Congenital 1

Autosomal Recessive Congenital Cataract 1

Cataract 9 Multiple Types With Or Without Microcornea

Autosomal Dominant Congenital Cataract

Cataract Autosomal Dominant

Cataracts, Autosomal Dominant

Factor X Deficiency

Stuart-Prower Factor Deficiency

F10 Deficiency

Congenital Stuart Factor Deficiency

Factor X Deficiency, Congenital

Congenital Factor X Deficiency

Disease, Stuart-Prower

Stuart Factor Deficiency, Congenital

FA10D

Factor 10 Deficiency

Deficiency, Factor X

Hereditary Factor X Deficiency Disease

Deficiency Of Factor X

Stuart Deficiency Disease

Stuart Prower Deficiency

Stuart-Prower Disease

Myopathy, Lactic Acidosis, And Sideroblastic Anemia 3

MLASA3

Pre-Eclampsia

Preeclampsia

Gestational Hypertension

Hypertension Induced By Pregnancy

Pre-Eclamptic Toxaemia

Pregnancy Associated Hypertension

Proteinuric Hypertension Of Pregnancy

Hypertension, Pregnancy-Induced, Susceptibility To

Preeclampsia/Eclampsia

Pregnancy Toxemia

Toxaemia Of Pregnancy

Gestational Proteinuric Hypertension

Pregnancy-Induced Hypertension

Toxemia Of Pregnancy

Preeclampsia, Susceptibility To

Transient Hypertension Of Pregnancy

Gestational [Pregnancy-Induced] Hypertension Without Significant Proteinuria

Gestational Hypertension Nos

Mild Proteinuric Hypertension Of Pregnancy

Pih - [Pregnancy-Induced Hypertension]

Pregnancy-Induced Hypertension Nos

Gestational [Pregnancy-Induced] Hypertension With Significant Proteinuria

Pe - [Pre-Eclampsia]

Pre-Eclampsia Nos

Pre-Eclamptic Nos

Pregnancy Pre-Eclampsia

Puerperal Pre-Eclampsia

Pre-Eclampsia Toxaemia

Toxaemia In Pregnancy

Pet - [Pre-Eclamptic Toxaemia]

Maternal Toxaemia

Pulmonary Artery Disease

Abnormality Of The Pulmonary Artery

Blood Coagulation Disease

Blood Coagulation Disorders

Coagulation Protein Disease

Inherited Blood Coagulation Disease

Postpartum Coagulation Defect

Postpartum Coagulation Defect With Delivery

Coagulation Protein Disorders

Puerperal Coagulopathy

Myocardial Infarction

Heart Attack

Myocardial Infarction, Susceptibility To

Myocardial Infarction 1

Myocardial Infarction, Protection Against

Myocardial Infarction, Decreased Susceptibility To

Myocardial Infarction, Decreased

Myocardial Infarct

MCI1

Premature Myocardial Infarction

Myocardial Infarction, Susceptibility To, Type 1

Stroke, Ischemic

Cerebral Infarction

Stroke

Ischemic Stroke

Cerebrovascular Accident

Cerebral Infarction, Susceptibility To

Stroke, Ischemic, Susceptibility To

Cerebral Infarct

Ischemic Stroke, Susceptibility To

Stroke, Susceptibility To

Cva - Cerebral Infarction

ISCHSTR

Ischemic Cerebrovascular Accident

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

Acute Promyelocytic Leukemia

Leukemia, Acute Promyelocytic

Acute Myeloblastic Leukemia Type 3

Aml M3

APL

Leukemia, Acute Promyelocytic, Somatic

Aml With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Apml

Acute Myeloblastic Leukemia 3

Acute Myeloid Leukemia With T(15

17)(Q22

Q12)

(Pml/Raralpha) And Variants

Acute Myeloblastic Leukaemia Type 3

Acute Myeloid Leukaemia M3

Acute Myeloid Leukemia M3

Acute Promyelocytic Leukaemia

M3 Anll

Myeloid Leukemia, Acute, M3

Leukemia Promyelocytic Acute

Leukemia, Promyelocytic, Acute

Leukemia, Acute, Promyelocytic

Type 2 Diabetes Mellitus

Insulin Resistance

NIDDM

Type 2 Diabetes

Diabetes Mellitus, Non-Insulin-Dependent

T2D

Noninsulin-Dependent Diabetes Mellitus

Diabetes Mellitus, Type Ii

Maturity-Onset Diabetes

Insulin Resistance, Severe, Digenic

Diabetes Mellitus, Type 2

Diabetes Mellitus, Noninsulin-Dependent

Diabetes Mellitus, Noninsulin-Dependent, Association With

Diabetes Mellitus, Noninsulin-Dependent, Late Onset

Hypertension, Insulin Resistance-Related, Susceptibility To

Insulin Resistance, Susceptibility To

Non-Insulin-Dependent Diabetes Mellitus

Type Ii Diabetes Mellitus

Adult-Onset Diabetes Mellitus

Maturity-Onset Diabetes Mellitus

Diabetes Mellitus Type 2

Type Ii Diabetes

Type 2 Diabetes Mellitus, Susceptibility To

Diabetes, Type 2

Diabetes Mellitus, Noninsulin-Dependent, Susceptibility To

Diabetes Mellitus, Non-Insulin-Dependent, Susceptibility To

Diabetes Mellitus, Type 2, Susceptibility To

Diabetes Mellitus, Noninsulin-Dependent, 2

Diabetes Mellitus, Type Ii, Susceptibility To

Hypertension, Insulin Resistance-Related

Adult-Onset Diabetes

Aodm

Diabetes Mellitus, Adult-Onset

Diabetes Mellitus Type Ii

Diabetes Mellitus Type 2, Susceptibility To

Diabetes, Type Ii, Susceptibility To

Diabetes Type 2

Diabetes Mellitus

Adult Onset Diabetes

Maturity Onset Diabetes

Nonketotic Diabetes

Non-Insulin Dependent Diabetes Mellitus

T2dm - [Type 2 Diabetes Mellitus]

Niddm - [Non Insulin Dependent Diabetes Mellitus]

Dm2

Dm Type Ii

Diabetic Type 2

Insulin Requiring Type 2 Diabetes

Noninsulin Dependent Diabetes

Non-Insulin-Dependent Diabetes Mellitus Without Complications

Diabetes Due To Insulin Secretory Defect

Diabetes Mellitus Due To Insulin Secretory Defect

Non-Insulin-Dependent Diabetes Of The Young

Senile Diabetes

Nonketotic Hyperglycaemia

Stable Diabetes

Congenital Nervous System Abnormality

Congenital Neurologic Anomaly

Congenital Nervous System Disorder

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
Mus musculus SERPINF2 MGD MGI:107173
Felis catus SERPINF2 VGNC VGNC:68904
Bos taurus SERPINF2 VGNC VGNC:34479
Canis familiaris SERPINF2 VGNC VGNC:46040
Rattus norvegicus SERPINF2 RGD RGD:1306692
Macaca mulatta SERPINF2 VGNC VGNC:77372
Macaca fascicularis SERPINF2 NCBI NCBI:102116557
Others SERPINF2 NCBI