Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2159
Gene name	Coagulation factor X
Gene symbol	F10
Synonyms (NCBI Gene)	FXFXA
Chromosome	13
Chromosome location	13q34
Summary	This gene encodes the vitamin K-dependent coagulation factor X of the blood coagulation cascade. This factor undergoes multiple processing steps before its preproprotein is converted to a mature two-chain form by the excision of the tripeptide RKR. Two ch

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SNP ID	Visualize variation	Clinical significance	Consequence
rs104894392	C>G,T	Pathogenic	3 prime UTR variant, missense variant, coding sequence variant
rs121964948	A>T	Pathogenic	Intron variant, missense variant, coding sequence variant
rs368225671	G>A	Likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs387906506	C>-	Pathogenic	Stop gained, coding sequence variant
rs1085307979	G>A	Likely-pathogenic	Coding sequence variant, 3 prime UTR variant, missense variant
rs1595098100	AACACCTGTCCACCTGGCCAGCCACACTGAGCCTGTCACGTCTGTCACAGGCCCTGCTCATCAATGAGGAAAACGAGGGTTTCTGTGGTGGAACCATTCTGAGCGAGTTCTACATCCTAACGGCAGCCCACTGTCTCTACCAAGCCAAGAGATTCAAGGTGAGGGTAGGTAAGTGACCAACAGCCCCCAGGGCCGTGGTGAGG>-	Likely-pathogenic	Splice acceptor variant, coding sequence variant, splice donor variant, intron variant
rs1595099527	G>A	Likely-pathogenic	Missense variant, 3 prime UTR variant, coding sequence variant
rs1595099645	T>C	Likely-pathogenic	Missense variant, 3 prime UTR variant, coding sequence variant
rs1595099844	G>A	Likely-pathogenic	Missense variant, 3 prime UTR variant, coding sequence variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT016852	hsa-miR-335-5p	Microarray	18185580

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Transcription factor	Regulation	Reference
SP1	Unknown	8567696

Show/Hide all (31)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004252	Function	Serine-type endopeptidase activity	IBA
GO:0004252	Function	Serine-type endopeptidase activity	IDA	17469850
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IMP	12574802
GO:0004252	Function	Serine-type endopeptidase activity	TAS	3011603
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	6323392, 20427285, 32296183
GO:0005543	Function	Phospholipid binding	IDA	17469850
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS	3011603
GO:0005615	Component	Extracellular space	IBA
GO:0005788	Component	Endoplasmic reticulum lumen	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005796	Component	Golgi lumen	IEA
GO:0005796	Component	Golgi lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0006508	Process	Proteolysis	IBA
GO:0006508	Process	Proteolysis	IEA
GO:0007596	Process	Blood coagulation	IBA
GO:0007596	Process	Blood coagulation	IC	17469850
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	TAS	6587384
GO:0007599	Process	Hemostasis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0009897	Component	External side of plasma membrane	IC	17469850
GO:0016787	Function	Hydrolase activity	IEA
GO:0030335	Process	Positive regulation of cell migration	TAS	18612547
GO:0032008	Process	Positive regulation of TOR signaling	IDA	18612547
GO:0032008	Process	Positive regulation of TOR signaling	IEA

MIM	HGNC	e!Ensembl
613872	3528	ENSG00000126218

P00742

Protein name

Coagulation factor X (EC 3.4.21.6) (Stuart factor) (Stuart-Prower factor) [Cleaved into: Factor X light chain; Factor X heavy chain; Activated factor Xa heavy chain]

Protein function

Factor Xa is a vitamin K-dependent glycoprotein that converts prothrombin to thrombin in the presence of factor Va, calcium and phospholipid during blood clotting (PubMed:22409427). Factor Xa activates pro-inflammatory signaling pathways in a pr

PDB

1C5M , 1EZQ , 1F0R , 1F0S , 1FAX , 1FJS , 1FXY , 1G2L , 1G2M , 1HCG , 1IOE , 1IQE , 1IQF , 1IQG , 1IQH , 1IQI , 1IQJ , 1IQK , 1IQL , 1IQM , 1IQN , 1KSN , 1LPG , 1LPK , 1LPZ , 1LQD , 1MQ5 , 1MQ6 , 1NFU , 1NFW , 1NFX , 1NFY , 1P0S , 1V3X , 1WU1 , 1XKA , 1XKB , 1Z6E , 2BMG , 2BOH , 2BOK , 2BQ6 , 2BQ7 , 2BQW , 2CJI , 2D1J , 2EI6 , 2EI7 , 2EI8 , 2FZZ , 2G00

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00594	Gla	45 → 85	Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain	Domain
PF00008	EGF	90 → 120	EGF-like domain	Domain
PF14670	FXa_inhibition	129 → 164		Domain
PF00089	Trypsin	235 → 462	Trypsin	Domain

Tissue specificity

TISSUE SPECIFICITY: Plasma; synthesized in the liver. {ECO:0000269|PubMed:6587384}.

Sequence

MGRPLHLVLLSASLAGLLLLGESLFIRREQANNILARVTRANSFLEEMKKGHLERECMEE
TCSYEEAREVFEDSDKTNEFWNKYKDGDQCETSPCQNQGKCKDGLGEYTCTCLEGFEGKN
CELFTRKLCSLDNGDCDQFCHEEQNSVVCSCARGYTLADNGKACIPTGPYPCGKQTLERR
KRSVAQATSSSGEAPDSITWKPYDAADLDPTENPFDLLDFNQTQPERGDNNLTRIVGGQE
CKDGECPWQALLINEENEGFCGGTILSEFYILTAAHCLYQAKRFKVRVGDRNTEQEEGGE
AVHEVEVVIKHNRFTKETYDFDIAVLRLKTPITFRMNVAPACLPERDWAESTLMTQKTGI
VSGFGRTHEKGRQSTRLKMLEVPYVDRNSCKLSSSFIITQNMFCAGYDTKQEDACQGDSG
GPHVTRFKDTYFVTGIVSWGEGCARKGKYGIYTKVTAFLKWIDRSMKTRGLPKAKSHAPE
VITSSPLK

Sequence length

488

Interactions

View interactions

	KEGG		Reactome
	Complement and coagulation cascades		Extrinsic Pathway of Fibrin Clot Formation Intrinsic Pathway of Fibrin Clot Formation Common Pathway of Fibrin Clot Formation Gamma-carboxylation of protein precursors Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus Removal of aminoterminal propeptides from gamma-carboxylated proteins

119

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormal bleeding	Likely pathogenic	rs1595098100	RCV000852256
F10-related disorder	Likely pathogenic	rs768222784, rs121964944	RCV004731246 RCV003983201
Factor X deficiency	Pathogenic; Likely pathogenic	rs2138548669, rs768222784, rs104894392, rs387906506, rs121964947, rs121964940, rs753790195, rs121964948, rs121964941, rs121964942, rs121964943, rs121964945, rs121964944	RCV001420416 RCV002267785 RCV000012833 RCV000012834 RCV000012836 RCV000012837 RCV000012838 RCV000012839 RCV000012840 RCV000012842 RCV000012843 RCV000012845 RCV001824369
Factor x deficiency, autosomal dominant	Pathogenic	rs121964946	RCV000012846
Hereditary factor X deficiency disease	Pathogenic; Likely pathogenic	rs376163818, rs369872236, rs768222784, rs1325135019, rs749213415, rs2138557799, rs1250509122, rs2503095549, rs2503094343, rs2503081595, rs2503094311, rs2503095616, rs2503095628, rs2503081410, rs755110383 View all (6 more)	RCV001834560 RCV002222132 RCV002236395 RCV002245313 RCV002245314 RCV002245315 RCV002245496 RCV003445226 RCV003445227 RCV003445228 RCV003445229 RCV003445230 RCV003445231 RCV003313859 RCV003313867 RCV003313881 RCV003990425 RCV000852044 RCV000851652 RCV000851584 RCV000851588

Show/Hide Unknown Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs485798	RCV005916574
Lung cancer	Benign	rs485798	RCV005916577
Ovarian serous cystadenocarcinoma	Benign	rs485798	RCV005916575
Thrombocytopenia	Uncertain significance; Conflicting classifications of pathogenicity	rs771971250, rs369409423, rs1233330150	RCV001270547 RCV001270505 RCV001270526
Uterine carcinosarcoma	Benign	rs485798	RCV005916576

Show/Hide Text Mining Associations (55)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Activated Protein C Resistance	Associate	8573079
Acute Coronary Syndrome	Associate	29588304
Allergic Fungal Sinusitis	Associate	35271862
Antithrombin deficiency type 2	Associate	28743742
Antithrombin III Deficiency	Inhibit	37670493
Aortic Aneurysm Abdominal	Associate	28735510
Atherosclerosis	Associate	23137705
Atrial Fibrillation	Associate	24041930, 33185476, 37203300
Blood Coagulation Disorders	Associate	17509570, 20864578, 24127605, 25811371, 34696334, 37024459
Breast Neoplasms	Associate	14717972, 25407022
Carcinoma Hepatocellular	Associate	8381308
Cholangiocarcinoma	Associate	39831920
Coagulation Protein Disorders	Associate	2303434, 8567696
COVID 19	Associate	36438904, 37024459
Diabetes Mellitus	Stimulate	34494136
Diabetes Mellitus Type 1	Associate	10775023
Dysprothrombinemia	Associate	10627484
Endometrial Neoplasms	Associate	31028196
Factor X Deficiency	Associate	15892863, 23677006, 26708756, 28302935, 34680916, 37678549
Genetic Predisposition to Disease	Associate	14521598
Glomerulonephritis Membranous	Associate	1730083
Hemoglobinuria Paroxysmal	Associate	7688991
Hemorrhage	Associate	23677006, 27975099, 28302935, 37203300
Hemorrhage	Inhibit	29588304
Hemostatic Disorders	Associate	29879041
Hypoprothrombinemias	Associate	8839854
Infections	Inhibit	37024459
Inflammation	Associate	28735510
Inflammation	Stimulate	31877279, 34696334
Ischemic Attack Transient	Associate	29385837
Lymphoma	Associate	25303152
Mitochondrial Diseases	Stimulate	31877279
Myeloproliferative Disorders	Associate	11991237
Myopathy with Giant Abnormal Mitochondria	Associate	31877279
Nasal Polyps	Associate	35271862
Neoplasms	Associate	18235964
Osteosarcoma	Associate	17509570
Peripheral Arterial Disease	Associate	31285632
Plasminogen Activator Inhibitor 1 Deficiency	Associate	27975099
Polycythemia Vera	Associate	11991237
Pulmonary Disease Chronic Obstructive	Associate	31877279
Pulmonary Embolism	Associate	27975099
Retinal Vein Occlusion	Associate	30057675
Scott Syndrome	Associate	1730083
Stroke	Associate	21114618
Subarachnoid Hemorrhage	Associate	37678549
Thrombocythemia Essential	Associate	11991237
Thrombophilia	Associate	10942390
Thrombosis	Associate	23137705, 23677006, 24104188, 26826018, 27975099, 28735510, 29879041, 37024459
Tomaculous neuropathy	Associate	25179519, 34680916
Urachal Cyst	Associate	28302935
Uterine Cervical Neoplasms	Associate	39372720
Varicose Veins	Associate	32679199
Venous Thromboembolism	Associate	22044617
Venous Thrombosis	Associate	27975099

F10 (coagulation factor X)