F7 (coagulation factor VII)

Gene

• Entrez ID: 2155
• Gene name: Coagulation factor VII
• Gene symbol: F7
• Synonyms (NCBI Gene): SPCA
• Chromosome: 13
• Chromosome location: 13q34
• Summary: This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs6046	G>A,C,T	Risk-factor, benign	Coding sequence variant, non coding transcript variant, missense variant
rs36209567	C>T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs45572939	T>A	Likely-pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, intron variant, coding sequence variant
rs121964926	G>A	Other, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121964927	G>A,T	Likely-pathogenic, pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121964931	C>T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121964934	T>C,G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs121964936	T>G	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs200016360	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs267606790	C>G,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs375134790	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs387906507	T>A,C	Pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs387906508	T>C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs531225271	C>A,T	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs539578931	A>C,G	Likely-pathogenic	Non coding transcript variant, synonymous variant, 5 prime UTR variant, missense variant, coding sequence variant, genic upstream transcript variant
rs746625213	G>A	Likely-pathogenic	Intron variant
rs750457207	C>-	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs750980786	C>G,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs754785708	GGGT>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, splice donor variant
rs755377592	G>A	Likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs757743255	CTCAGCGAGCACGAC>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, inframe deletion
rs769452933	G>T	Likely-pathogenic	Splice donor variant
rs769455161	G>A	Likely-pathogenic	Genic upstream transcript variant, intron variant
rs779589651	C>T	Pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs786205091	GCGGGTGGCGCAGGTCA>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs1056071555	G>A	Likely-pathogenic	Genic upstream transcript variant, splice donor variant, upstream transcript variant
rs1160146175	C>A	Likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant
rs1250204261	A>G	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1250853566	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs1367115848	T>G	Likely-pathogenic	5 prime UTR variant, genic upstream transcript variant, upstream transcript variant
rs1418012389	C>A,T	Likely-pathogenic	Genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant
rs1595080617	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1595080725	T>C	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT735390	hsa-miR-409-3p	qRT-PCR	32246041
MIRT974637	hsa-miR-1208	CLIP-seq
MIRT974638	hsa-miR-3647-3p	CLIP-seq
MIRT974639	hsa-miR-4276	CLIP-seq
MIRT974640	hsa-miR-4447	CLIP-seq
MIRT974641	hsa-miR-4472	CLIP-seq
MIRT974642	hsa-miR-4481	CLIP-seq
MIRT974643	hsa-miR-4488	CLIP-seq
MIRT974644	hsa-miR-452	CLIP-seq
MIRT974645	hsa-miR-4676-3p	CLIP-seq
MIRT974646	hsa-miR-4677-3p	CLIP-seq
MIRT974647	hsa-miR-4682	CLIP-seq
MIRT974648	hsa-miR-4697-5p	CLIP-seq
MIRT974649	hsa-miR-4745-5p	CLIP-seq
MIRT974650	hsa-miR-4755-3p	CLIP-seq
MIRT974651	hsa-miR-4758-5p	CLIP-seq
MIRT974652	hsa-miR-579	CLIP-seq
MIRT974653	hsa-miR-653	CLIP-seq
MIRT974654	hsa-miR-1224-3p	CLIP-seq
MIRT974655	hsa-miR-1322	CLIP-seq
MIRT974656	hsa-miR-3120-5p	CLIP-seq
MIRT974657	hsa-miR-3200-3p	CLIP-seq
MIRT974658	hsa-miR-371b-3p	CLIP-seq
MIRT974639	hsa-miR-4276	CLIP-seq
MIRT974659	hsa-miR-4313	CLIP-seq
MIRT974646	hsa-miR-4677-3p	CLIP-seq
MIRT974652	hsa-miR-579	CLIP-seq
MIRT974660	hsa-miR-593	CLIP-seq
MIRT974653	hsa-miR-653	CLIP-seq
MIRT1988786	hsa-miR-324-5p	CLIP-seq
MIRT2223169	hsa-miR-1343	CLIP-seq
MIRT2223170	hsa-miR-3192	CLIP-seq
MIRT2223171	hsa-miR-371-5p	CLIP-seq
MIRT2223172	hsa-miR-4300	CLIP-seq
MIRT2223173	hsa-miR-4469	CLIP-seq
MIRT2223174	hsa-miR-4530	CLIP-seq
MIRT2223175	hsa-miR-4633-3p	CLIP-seq
MIRT2223176	hsa-miR-548v	CLIP-seq
MIRT2223177	hsa-miR-920	CLIP-seq
MIRT2223178	hsa-miR-922	CLIP-seq
MIRT974654	hsa-miR-1224-3p	CLIP-seq
MIRT2449053	hsa-miR-1470	CLIP-seq
MIRT974656	hsa-miR-3120-5p	CLIP-seq
MIRT2449054	hsa-miR-4286	CLIP-seq
MIRT2449055	hsa-miR-4287	CLIP-seq
MIRT2223173	hsa-miR-4469	CLIP-seq
MIRT2449056	hsa-miR-4667-3p	CLIP-seq
MIRT2449057	hsa-miR-4685-3p	CLIP-seq
MIRT974660	hsa-miR-593	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
ATF4	Unknown	22848420
SP1	Unknown	9716591

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001666	Process	Response to hypoxia	IEA
GO:0002690	Process	Positive regulation of leukocyte chemotaxis	IDA	17991872
GO:0004175	Function	Endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	IDA	24998411
GO:0004252	Function	Serine-type endopeptidase activity	IEA
GO:0004252	Function	Serine-type endopeptidase activity	TAS	3037537
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	3455766, 8598903, 8940045, 9414278, 15522303, 15664864, 25241761
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS	3037537
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IEA
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	IEA
GO:0006950	Process	Response to stress	IEA
GO:0007596	Process	Blood coagulation	IBA
GO:0007596	Process	Blood coagulation	IDA	8632006, 24998411
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	TAS	3037537
GO:0007599	Process	Hemostasis	IEA
GO:0007623	Process	Circadian rhythm	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	IEA
GO:0008236	Function	Serine-type peptidase activity	TAS	3037537
GO:0009725	Process	Response to hormone	IEA
GO:0010037	Process	Response to carbon dioxide	IEA
GO:0010641	Process	Positive regulation of platelet-derived growth factor receptor signaling pathway	IDA	17991872
GO:0016485	Process	Protein processing	IBA
GO:0016485	Process	Protein processing	IDA	24998411
GO:0016787	Function	Hydrolase activity	IEA
GO:0030194	Process	Positive regulation of blood coagulation	IEA
GO:0030335	Process	Positive regulation of cell migration	TAS	18612547
GO:0031012	Component	Extracellular matrix	HDA	25037231
GO:0031100	Process	Animal organ regeneration	IEA
GO:0031667	Process	Response to nutrient levels	IEA
GO:0031982	Component	Vesicle	IEA
GO:0032008	Process	Positive regulation of TOR signaling	IDA	18612547
GO:0032008	Process	Positive regulation of TOR signaling	IEA
GO:0032355	Process	Response to estradiol	IEA
GO:0032571	Process	Response to vitamin K	IEA
GO:0033595	Process	Response to genistein	IEA
GO:0043627	Process	Response to estrogen	IEA
GO:0050878	Process	Regulation of body fluid levels	IEA
GO:0050927	Process	Positive regulation of positive chemotaxis	IDA	17991872
GO:0060416	Process	Response to growth hormone	IEA
GO:0070723	Process	Response to cholesterol	IEA
GO:0097066	Process	Response to thyroid hormone	IEA
GO:0097068	Process	Response to thyroxine	IEA
GO:1904400	Process	Response to Thyroid stimulating hormone	IEA
GO:1904612	Process	Response to 2,3,7,8-tetrachlorodibenzodioxine	IEA
GO:1905217	Process	Response to astaxanthin	IEA
GO:1905225	Process	Response to thyrotropin-releasing hormone	IEA
GO:1905286	Component	Serine-type peptidase complex	IPI	24998411

Other IDs

• MIM: 613878
• HGNC: 3544
• e!Ensembl: ENSG00000057593

Protein

• UniProt ID: P08709
• Protein name: Coagulation factor VII (EC 3.4.21.21) (Proconvertin) (Serum prothrombin conversion accelerator) (SPCA) (Eptacog alfa) [Cleaved into: Factor VII light chain; Factor VII heavy chain]
• Protein function: Initiates the extrinsic pathway of blood coagulation. Serine protease that circulates in the blood in a zymogen form. Factor VII is converted to factor VIIa by factor Xa, factor XIIa, factor IXa, or thrombin by minor proteolysis. In the presence
• PDB: 1BF9, 1CVW, 1DAN, 1DVA, 1F7E, 1F7M, 1FAK, 1FF7, 1FFM, 1J9C, 1JBU, 1KLI, 1KLJ, 1O5D, 1QFK, 1W0Y, 1W2K, 1W7X, 1W8B, 1WQV, 1WSS, 1WTG, 1WUN, 1WV7, 1YGC, 1Z6J, 2A2Q, 2AEI, 2AER, 2B7D, 2B8O, 2BZ6, 2C4F, 2EC9, 2F9B, 2FIR, 2FLB, 2FLR, 2PUQ, 2ZP0, 2ZWL, 2ZZU, 3ELA, 3TH2, 3TH3, 3TH4, 4IBL, 4ISH, 4ISI, 4JYU, 4JYV
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00594	Gla	65 → 105	Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain	Domain
  PF00008	EGF	110 → 140	EGF-like domain	Domain
  PF00089	Trypsin	213 → 447	Trypsin	Domain

• Tissue specificity: TISSUE SPECIFICITY: Plasma.
• Sequence:

  MVSQALRLLCLLLGLQGCLAAGGVAKASGGETRDMPWKPGPHRVFVTQEEAHGVLHRRRR
  ANAFLEELRPGSLERECKEEQCSFEEAREIFKDAERTKLFWISYSDGDQCASSPCQNGGS
  CKDQLQSYICFCLPAFEGRNCETHKDDQLICVNENGGCEQYCSDHTGTKRSCRCHEGYSL
  LADGVSCTPTVEYPCGKIPILEKRNASKPQGRIVGGKVCPKGECPWQVLLLVNGAQLCGG
  TLINTIWVVSAAHCFDKIKNWRNLIAVLGEHDLSEHDGDEQSRRVAQVIIPSTYVPGTTN
  HDIALLRLHQPVVLTDHVVPLCLPERTFSERTLAFVRFSLVSGWGQLLDRGATALELMVL
  NVPRLMTQDCLQQSRKVGDSPNITEYMFCAGYSDGSKDSCKGDSGGPHATHYRGTWYLTG
  IVSWGQGCATVGHFGVYTRVSQYIEWLQKLMRSEPRPGVLLRAPFP

• Sequence length: 466

Pathways

KEGG:

Complement and coagulation cascades

Reactome:

Extrinsic 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

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormal bleeding	Likely pathogenic; Pathogenic	rs36209567, rs1595080725, rs750457207	RCV000851974 RCV000851999 RCV000851695
Abnormality of coagulation	Likely pathogenic	rs750980786, rs1595080725	RCV000851653 RCV000852000
Congenital factor VII deficiency	Likely pathogenic; Pathogenic	rs121964929, rs563972504, rs756151764, rs1293477494, rs190485816, rs2142232799, rs2142229154, rs376384665, rs201991361, rs764741909, rs372577568, rs1566906827, rs2142232898, rs2503057230, rs1414353514, rs121964927, rs368272420, rs36209567, rs786205091, rs121964934, rs1168560365, rs779658565, rs1186901138, rs745374448, rs755377592, rs121964926, rs531225271, rs200016360, rs1160146175, rs121964931, rs1250853566, rs750457207, rs1367115848, rs1418012389, rs1056071555, rs769452933	RCV003479334 RCV002222725 RCV003147659 RCV003147660 RCV001801311 RCV002074464 RCV002222141 RCV002222143 RCV002223106 RCV002243529 RCV002245395 RCV002254393 RCV002254394 RCV002280993 RCV002280998 RCV002280876 RCV003236368 RCV002243638 RCV002243639 RCV004700223 RCV003313883 RCV005003652 RCV003494562 RCV004801425 RCV005004148 RCV003147479 RCV003313784 RCV002222629 RCV003330942 RCV002245661 RCV003323715 RCV002245647 RCV004782540 RCV004689879 RCV002245657 RCV004796298 RCV005232591
F7-related disorder	Likely pathogenic; Pathogenic	rs121964929, rs756151764, rs36209567, rs137919286, rs745374448, rs1186901138, rs755377592, rs121964926, rs531225271, rs200016360, rs121964931, rs750457207, rs1460304955	RCV004753349 RCV004753389 RCV004752703 RCV003417106 RCV003896514 RCV003956906 RCV003950324 RCV003419797 RCV004752909 RCV004753034 RCV004753036 RCV004753032 RCV003914048
Factor VII deficiency	Likely pathogenic; Pathogenic	rs2142212748, rs146795869, rs2142229513, rs2142234775, rs121964929, rs121964927, rs121964928, rs121964930, rs121964932, rs1056071555, rs387906507, rs36209567, rs786205091, rs1263426144, rs121964933, rs121964934, rs267606790, rs121964935, rs121964936, rs121964937, rs387906508, rs755377592, rs121964926, rs531225271, rs539578931, rs200016360, rs1160146175, rs757743255, rs121964931, rs1250853566, rs1595080617, rs750457207, rs1367115848, rs1418012389, rs769452933, rs746625213	RCV001420375 RCV001420377 RCV001420379 RCV001420380 RCV001843373 RCV000714620 RCV000012850 RCV000012852 RCV000012854 RCV000012855 RCV000012856 RCV000012857 RCV000012858 RCV000012863 RCV000012865 RCV000012866 RCV000012867 RCV000012868 RCV000012869 RCV000012870 RCV000012871 RCV000415275 RCV000779130 RCV001095705 RCV000851580 RCV000779128 RCV000851614 RCV000852230 RCV000852243 RCV000851965 RCV000851661 RCV000851926 RCV000851625 RCV000851624 RCV000852127 RCV000851856 RCV000851894
Factor VII Padua	Likely pathogenic; Pathogenic	rs121964926	RCV001843424
Myocardial infarction, susceptibility to	Likely pathogenic; Pathogenic	rs201991361, rs764741909, rs372577568, rs1566906827, rs121964927, rs36209567, rs121964934, rs779658565, rs755377592, rs121964926, rs531225271, rs200016360, rs121964931, rs750457207, rs1056071555	RCV005002805 RCV005002807 RCV005002808 RCV005008491 RCV005008224 RCV002496330 RCV005007839 RCV005003652 RCV005004148 RCV002496859 RCV005010392 RCV002487576 RCV002487578 RCV002507337 RCV002487577
See cases	Likely pathogenic; Pathogenic	rs372577568, rs121964927	RCV003128439 RCV002252070

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
-	no classification for the single variant	rs2503021985	-
Hemophilia	Uncertain significance	rs2502992250	RCV003582172
Myocardial infarction, decreased susceptibility to	Benign	rs5742910	RCV000012860
Thrombocytopenia	Uncertain significance	rs760341993	RCV001270525

Associations from Text Mining
Disease Name	Relationship Type	References
Abortion Habitual	Associate	27504943, 28819944
Abortion Spontaneous	Associate	27504943
Acute Kidney Injury	Inhibit	30582197
Allergic Fungal Sinusitis	Associate	35271862
Angina Unstable	Associate	10583928
Blood Coagulation Disorders	Associate	1904059, 19904262, 21902896, 22848420, 24178511, 31185295, 37761907, 7513203, 8204879, 8940045
Blood Coagulation Disorders	Stimulate	35271862, 36920782
Blood Coagulation Disorders Inherited	Associate	34342048, 36572978
Breast Neoplasms	Associate	25447311, 36920782
Breast Neoplasms	Stimulate	28618103
Calcinosis	Stimulate	28618103
Calcinosis Cutis	Stimulate	36920782
Carcinoma Hepatocellular	Inhibit	36154076
Carcinoma Renal Cell	Associate	19904262
Cardiovascular Diseases	Associate	17903294, 26516624, 26694100, 29112333
Carotid Artery Thrombosis	Associate	10803689
Cerebral Hemorrhage	Associate	17488662
Cerebral Infarction	Associate	21114618, 30642921
Cerebral Infarction	Inhibit	33834859
Chronic Disease	Associate	9716591
Coagulation Protein Disorders	Associate	27341548, 27513915, 34342048, 36572978
Coronary Artery Disease	Associate	10803689, 10984565, 11079652, 21477332, 30642921
Coronary Disease	Associate	14521602, 19336475, 19415820, 20735728
Death	Associate	10984565
Depressive Disorder	Associate	34488523
Diabetes Mellitus Type 2	Associate	26694100
Dyslipidemias	Associate	35552711
Factor VII Deficiency	Associate	11091194, 11110717, 11830508, 15456489, 15667541, 21902896, 26852649, 27513915, 31273093, 31482689, 31577732, 33038747, 33587484, 35973191, 36123027, 36572978, 7919338, 8204879, 8940045, 8978290, 9716591
Factor VII Deficiency	Inhibit	15667541, 27513915, 36123027, 7919338, 7949091, 8204879
Factor XI Deficiency	Associate	23617568
Frasier Syndrome	Inhibit	37055848
Glioblastoma	Associate	20462964
Glucose Intolerance	Stimulate	22848420
Hemarthrosis	Associate	9716591
Hematoma	Associate	34857025
Hemorrhage	Associate	11830508, 26852649, 27513915, 34857025, 35973191, 9716591
Hemorrhagic Disorders	Associate	8978290
Hernia Umbilical	Associate	37055848
Hyperlipoproteinemia Type II	Associate	21477332
Hypertrophy Left Ventricular	Associate	25329069
Hypoxia Brain	Stimulate	22402494
Immunologic Deficiency Syndromes	Associate	11830508, 15307115, 15456489, 21902896, 33587484, 37055867
Immunologic Deficiency Syndromes	Inhibit	15307115, 15456489, 37761907
Infarction	Associate	10984565
Inflammation	Associate	21114618
Inflammatory Bowel Diseases	Stimulate	39969330
Intracranial Embolism	Associate	37055848
Intracranial Hemorrhages	Associate	11342420, 26852649
Intracranial Hemorrhages	Inhibit	31577732
Jaundice Obstructive	Associate	37055848
Myocardial Infarction	Associate	10691850, 10984565, 11079652, 14521602, 15170085, 22964781, 23274712, 27635400, 9222962, 9420338
Myocardial Ischemia	Associate	10583928
Nasal Polyps	Associate	35271862
Neoplasm Metastasis	Associate	36920782
Neoplasms	Associate	26516624
Neoplasms	Inhibit	36154076
Neoplasms	Stimulate	36920782
Neoplastic Syndromes Hereditary	Associate	34342048
Obesity	Associate	26694100
Ovarian Neoplasms	Associate	19904262, 22402494
Prostatic Neoplasms	Associate	27434295
Pulmonary Disease Chronic Obstructive	Associate	21624643
Recurrence	Associate	27504943
Renal Insufficiency Chronic	Stimulate	31429114
Stroke	Associate	21114618
Subarachnoid Hemorrhage	Associate	26852649
Takayasu Arteritis	Associate	34523592
Thromboembolism	Associate	25447311
Thrombophilia	Associate	37055848
Thrombosis	Associate	11038326, 11079652, 16305054, 19904262, 27504943, 35264566
Urinary Bladder Neoplasms	Associate	1904059
Vascular Diseases	Associate	9420338
Venous Thromboembolism	Associate	17663738, 20031567, 30642921, 35552711
Venous Thrombosis	Inhibit	25891834
Venous Thrombosis	Associate	32160777
von Willebrand Diseases	Associate	34059196