GenTIGS

Coagulation factor VII (F7) Associated conditions: 1. Factor VII deficiency

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_000131.5	NP_000122.1	NC_000013.11	(113105790..113120684)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_001267554.2	NP_001254483.1	NC_000013.11	(113105790..113120684)	Reference GRCh38.p14 Primary Assembly	-
3	REVIEWED	NM_019616.4	NP_062562.1	NC_000013.11	(113105790..113120684)	Reference GRCh38.p14 Primary Assembly	-
4	REVIEWED	NR_051961.2	-	NC_000013.11	(113105790..113120684)	Reference GRCh38.p14 Primary Assembly	-

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1485 reference articles

Variant Information Coagulation factor VII (F7) Mutation Visualization Dashboard: Pathogenic variant distribution chart

ClinVar variants:Revealing mutagenic patterns

GO Term of Coagulation factor VII (F7)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	involved_in	response to hypoxia	Process	-
2	Homo sapiens	NAS	involved_in	activation of blood coagulation via clotting cascade	Process	18640965
3	Homo sapiens	IDA	involved_in	positive regulation of leukocyte chemotaxis	Process	17991872
4	Homo sapiens	IEA	enables	endopeptidase activity	Function	-
5	Homo sapiens	IDA	contributes_to	serine-type endopeptidase activity	Function	24998411
6	Homo sapiens	IEA	enables	serine-type endopeptidase activity	Function	-
7	Homo sapiens	TAS	enables	serine-type endopeptidase activity	Function	3037537
8	Homo sapiens	IEA	enables	signaling receptor binding	Function	-
9	Homo sapiens	IEA	enables	calcium ion binding	Function	-
10	Homo sapiens	IPI	enables	protein binding	Function	3455766 8598903 8940045 9414278 15522303 15664864 25241761
11	Homo sapiens	IEA	located_in	extracellular region	Component	-
12	Homo sapiens	TAS	located_in	extracellular region	Component	3037537
13	Homo sapiens	IBA	is_active_in	extracellular space	Component	-
14	Homo sapiens	IEA	located_in	extracellular space	Component	-
15	Homo sapiens	NAS	located_in	extracellular space	Component	12524220
16	Homo sapiens	IEA	located_in	endoplasmic reticulum lumen	Component	-
17	Homo sapiens	TAS	located_in	endoplasmic reticulum lumen	Component	-
18	Homo sapiens	IEA	located_in	Golgi lumen	Component	-
19	Homo sapiens	TAS	located_in	Golgi lumen	Component	-
20	Homo sapiens	TAS	located_in	plasma membrane	Component	-
21	Homo sapiens	IDA	involved_in	proteolysis	Process	18640965
22	Homo sapiens	IEA	involved_in	proteolysis	Process	-
23	Homo sapiens	IEA	involved_in	response to stress	Process	-
24	Homo sapiens	IBA	involved_in	blood coagulation	Process	-
25	Homo sapiens	IDA	involved_in	blood coagulation	Process	8632006 24998411
26	Homo sapiens	IEA	involved_in	blood coagulation	Process	-
27	Homo sapiens	NAS	involved_in	blood coagulation	Process	18640965
28	Homo sapiens	TAS	involved_in	blood coagulation	Process	3037537
29	Homo sapiens	NAS	involved_in	blood coagulation, intrinsic pathway	Process	18640965
30	Homo sapiens	NAS	involved_in	blood coagulation, extrinsic pathway	Process	12524220 18640965
31	Homo sapiens	IEA	involved_in	hemostasis	Process	-
32	Homo sapiens	IEA	involved_in	circadian rhythm	Process	-
33	Homo sapiens	IEA	enables	peptidase activity	Function	-
34	Homo sapiens	IEA	enables	serine-type peptidase activity	Function	-
35	Homo sapiens	TAS	enables	serine-type peptidase activity	Function	3037537
36	Homo sapiens	NAS	involved_in	response to wounding	Process	18640965
37	Homo sapiens	IEA	involved_in	response to hormone	Process	-
38	Homo sapiens	IEA	involved_in	response to carbon dioxide	Process	-
39	Homo sapiens	IDA	involved_in	positive regulation of platelet-derived growth factor receptor signaling pathway	Process	17991872
40	Homo sapiens	IPI	located_in	membrane	Component	18640965
41	Homo sapiens	IBA	involved_in	protein processing	Process	-
42	Homo sapiens	IDA	involved_in	protein processing	Process	24998411
43	Homo sapiens	IEA	enables	hydrolase activity	Function	-
44	Homo sapiens	IEA	involved_in	positive regulation of blood coagulation	Process	-
45	Homo sapiens	TAS	involved_in	positive regulation of cell migration	Process	18612547
46	Homo sapiens	HDA	located_in	extracellular matrix	Component	25037231
47	Homo sapiens	IEA	involved_in	animal organ regeneration	Process	-
48	Homo sapiens	NAS	involved_in	zymogen activation	Process	12524220
49	Homo sapiens	IEA	involved_in	response to nutrient levels	Process	-
50	Homo sapiens	IEA	located_in	vesicle	Component	-
51	Homo sapiens	IDA	involved_in	positive regulation of TOR signaling	Process	18612547
52	Homo sapiens	IEA	involved_in	positive regulation of TOR signaling	Process	-
53	Homo sapiens	IEA	involved_in	response to estradiol	Process	-
54	Homo sapiens	IEA	involved_in	response to vitamin K	Process	-
55	Homo sapiens	IEA	involved_in	response to genistein	Process	-
56	Homo sapiens	IEA	involved_in	response to estrogen	Process	-
57	Homo sapiens	IEA	involved_in	regulation of body fluid levels	Process	-
58	Homo sapiens	IDA	involved_in	positive regulation of positive chemotaxis	Process	17991872
59	Homo sapiens	IEA	involved_in	response to growth hormone	Process	-
60	Homo sapiens	IEA	involved_in	response to cholesterol	Process	-
61	Homo sapiens	NAS	involved_in	blood coagulation, fibrin clot formation	Process	18640965
62	Homo sapiens	IEA	involved_in	response to thyroid hormone	Process	-
63	Homo sapiens	IEA	involved_in	response to thyroxine	Process	-
64	Homo sapiens	IEA	involved_in	response to Thyroid stimulating hormone	Process	-
65	Homo sapiens	IEA	involved_in	response to 2,3,7,8-tetrachlorodibenzodioxine	Process	-
66	Homo sapiens	IEA	involved_in	response to astaxanthin	Process	-
67	Homo sapiens	IEA	involved_in	response to thyrotropin-releasing hormone	Process	-
68	Homo sapiens	IPI	part_of	serine-type peptidase complex	Component	24998411