THRB_HUMAN
Source:
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
F2
Protein names and data:
THRB_HUMAN
, Prothrombin; 3.4.21.5
, Coagulation factor II; Activation peptide fragment 1; Activation peptide fragment 2; Thrombin light chain; Thrombin heavy chain; Flags: Precursor
Lenght: 622 a.a.
Mass: 70037 Da
fasta formatted sequence
Function:
Thrombin, which cleaves bonds after Arg and Lys, converts fibrinogen to fibrin and activates factors V, VII, VIII, XIII, and, in complex with thrombomodulin, protein C. Functions in blood homeostasis, inflammation and wound healing.
Catalytic activity:
Selective cleavage of Arg-|-Gly bonds in fibrinogen to form fibrin and release fibrinopeptides A and B.
Disease:
( OMIM:
176930
188050
601367
613679
614390
)
Factor II deficiency (FA2D) [MIM:613679]: A very rare blood coagulation disorder characterized by mucocutaneous bleeding symptoms. The severity of the bleeding manifestations correlates with blood factor II levels. Note=The disease is caused by mutations affecting the gene represented in this entry. Ischemic stroke (ISCHSTR) [MIM:601367]: A stroke is an acute neurologic event leading to death of neural tissue of the brain and resulting in loss of motor, sensory and/or cognitive function. Ischemic strokes, resulting from vascular occlusion, is considered to be a highly complex disease consisting of a group of heterogeneous disorders with multiple genetic and environmental risk factors. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. Thrombophilia due to thrombin defect (THPH1) [MIM:188050]: A multifactorial disorder of hemostasis characterized by abnormal platelet aggregation in response to various agents and recurrent thrombi formation. Note=The disease is caused by mutations affecting the gene represented in this entry. A common genetic variation in the 3-prime untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increased risk of venous thrombosis. Pregnancy loss, recurrent, 2 (RPRGL2) [MIM:614390]: A common complication of pregnancy, resulting in spontaneous abortion before the fetus has reached viability. The term includes all miscarriages from the time of conception until 24 weeks of gestation. Recurrent pregnancy loss is defined as 3 or more consecutive spontaneous abortions. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
Cellular location:
Secreted, extracellular space.
Tissue specificity:
Expressed by the liver and secreted in plasma.
Genetic variants
72 - 72
E -> G (in FA2D; Shanghai). VAR_055232
165 - 165
T -> M (polymorphism confirmed at protein level; dbSNP:rs5896). VAR_011781
5896
200 - 200
E -> K (in FA2D; prothrombin type 3; variant confirmed at protein level; dbSNP:rs62623459). VAR_006711
62623459
314 - 314
R -> C (in FA2D; Barcelona/Madrid). VAR_006712
314 - 314
R -> H (in FA2D; Padua-1). VAR_006713
380 - 380
M -> T (in FA2D; Himi-1). VAR_006714
386 - 386
P -> T (polymorphism confirmed at protein level; dbSNP:rs5897). VAR_011782
5897
425 - 425
R -> C (in FA2D; Quick-1). VAR_006715
431 - 431
R -> H (in FA2D; Himi-2). VAR_006716
461 - 461
R -> W (in FA2D; Tokushima). VAR_006717
509 - 509
E -> A (in FA2D; Salakta/Frankfurt). VAR_006718
532 - 532
E -> Q (polymorphism confirmed at protein level). VAR_068913
601 - 601
G -> V (in FA2D; Quick-2). VAR_006719
Database cross-references
UniProt:
P00734
Ensembl:
ENST00000311907
MIM:
176930
MIM:
188050
MIM:
601367
MIM:
613679
MIM:
614390
neXtProt:
NX_P00734
Antibodypedia:
P00734
(may not find the protein thus also not any antibody)
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