FGA (fibrinogen alpha chain)

Gene

• Entrez ID: 2243
• Gene name: Fibrinogen alpha chain
• Gene symbol: FGA
• Synonyms: AMYLD2, Fib2
• Chromosome: 4
• Chromosome location: 4q31.3
• Summary: This gene encodes the alpha subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Following vascular injury, the encoded preproprotein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin.

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs6050	T>A,C	Benign, risk-factor	Coding sequence variant, missense variant
rs78506343	C>A,G,T	Pathogenic	Missense variant, coding sequence variant
rs121909606	G>A,T	Pathogenic	Missense variant, coding sequence variant
rs121909607	C>G,T	Pathogenic	Missense variant, coding sequence variant
rs121909608	T>C	Other, likely-pathogenic	Missense variant, coding sequence variant
rs121909612	T>A	Pathogenic	Missense variant, coding sequence variant
rs140911890	G>A,T	Likely-pathogenic	Synonymous variant, stop gained, coding sequence variant
rs146387238	C>A,G	Pathogenic	Splice donor variant
rs587777761	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs587777762	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs606231225	->A	Pathogenic	Stop gained, coding sequence variant
rs755117226	G>A	Pathogenic	Coding sequence variant, stop gained
rs762964798	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs776817952	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, synonymous variant
rs1214070111	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1578795296	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1578795880	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1578796476	G>A	Pathogenic	Coding sequence variant, stop gained
rs1578798730	AATTTCCATTA>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005518	hsa-miR-409-3p	ELISA, Flow, Luciferase reporter assay	20570858
MIRT005527	hsa-miR-29c-3p	Luciferase reporter assay	20570858
MIRT005529	hsa-miR-144-3p	Luciferase reporter assay	20570858
MIRT005531	hsa-miR-29a-3p	Luciferase reporter assay	20570858
MIRT005533	hsa-miR-29b-3p	Luciferase reporter assay	20570858
MIRT005527	hsa-miR-29c-3p	Luciferase reporter assay	20570858
MIRT995087	hsa-miR-101	CLIP-seq
MIRT995088	hsa-miR-105	CLIP-seq
MIRT995089	hsa-miR-1261	CLIP-seq
MIRT995090	hsa-miR-1262	CLIP-seq
MIRT995091	hsa-miR-1290	CLIP-seq
MIRT995092	hsa-miR-1293	CLIP-seq
MIRT995093	hsa-miR-1343	CLIP-seq
MIRT995094	hsa-miR-216a	CLIP-seq
MIRT995095	hsa-miR-2467-3p	CLIP-seq
MIRT995096	hsa-miR-29a	CLIP-seq
MIRT995097	hsa-miR-29b	CLIP-seq
MIRT995098	hsa-miR-29c	CLIP-seq
MIRT995099	hsa-miR-3123	CLIP-seq
MIRT995100	hsa-miR-3167	CLIP-seq
MIRT995101	hsa-miR-3667-3p	CLIP-seq
MIRT995102	hsa-miR-3671	CLIP-seq
MIRT995103	hsa-miR-3674	CLIP-seq
MIRT995104	hsa-miR-3678-3p	CLIP-seq
MIRT995105	hsa-miR-3690	CLIP-seq
MIRT995106	hsa-miR-3925-5p	CLIP-seq
MIRT995107	hsa-miR-4254	CLIP-seq
MIRT995108	hsa-miR-4483	CLIP-seq
MIRT995109	hsa-miR-4694-3p	CLIP-seq
MIRT995110	hsa-miR-4701-3p	CLIP-seq
MIRT995111	hsa-miR-4724-3p	CLIP-seq
MIRT995112	hsa-miR-4732-5p	CLIP-seq
MIRT995113	hsa-miR-4747-5p	CLIP-seq
MIRT995114	hsa-miR-4761-5p	CLIP-seq
MIRT995115	hsa-miR-4762-5p	CLIP-seq
MIRT995116	hsa-miR-520d-5p	CLIP-seq
MIRT995117	hsa-miR-524-5p	CLIP-seq
MIRT995118	hsa-miR-548p	CLIP-seq
MIRT995119	hsa-miR-607	CLIP-seq
MIRT995120	hsa-miR-876-5p	CLIP-seq
MIRT995116	hsa-miR-520d-5p	CLIP-seq
MIRT995117	hsa-miR-524-5p	CLIP-seq
MIRT2229152	hsa-miR-1292	CLIP-seq
MIRT2229153	hsa-miR-141	CLIP-seq
MIRT2229154	hsa-miR-200a	CLIP-seq
MIRT2229155	hsa-miR-4471	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
TFCP2	Unknown	10455131

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002224	Process	Toll-like receptor signaling pathway	TAS
GO:0002250	Process	Adaptive immune response	IEA
GO:0002576	Process	Platelet degranulation	TAS
GO:0005102	Function	Signaling receptor binding	IDA	10903502
GO:0005198	Function	Structural molecule activity	IDA	8910396
GO:0005198	Function	Structural molecule activity	IMP	10891444
GO:0005201	Function	Extracellular matrix structural constituent	HDA	28344315
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231, 28675934
GO:0005515	Function	Protein binding	IPI	10954706, 12706644, 15174051, 22582013, 25241761, 26091039
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005577	Component	Fibrinogen complex	IBA	21873635
GO:0005577	Component	Fibrinogen complex	IDA	8910396, 16846481, 18676163
GO:0005615	Component	Extracellular space	IDA	6777381
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0005938	Component	Cell cortex	IEA
GO:0007160	Process	Cell-matrix adhesion	IDA	10903502
GO:0007596	Process	Blood coagulation	TAS
GO:0009897	Component	External side of plasma membrane	IDA	6777381
GO:0009986	Component	Cell surface	IDA	6777381
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0031091	Component	Platelet alpha granule	IDA	6777381
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0031639	Process	Plasminogen activation	IDA	16846481
GO:0034116	Process	Positive regulation of heterotypic cell-cell adhesion	IBA	21873635
GO:0034116	Process	Positive regulation of heterotypic cell-cell adhesion	IDA	8100742
GO:0034622	Process	Cellular protein-containing complex assembly	IDA	8910396
GO:0042730	Process	Fibrinolysis	IBA	21873635
GO:0042730	Process	Fibrinolysis	IDA	16846481
GO:0043152	Process	Induction of bacterial agglutination	IDA	24367264
GO:0043687	Process	Post-translational protein modification	TAS
GO:0044267	Process	Cellular protein metabolic process	TAS
GO:0045087	Process	Innate immune response	IEA
GO:0045202	Component	Synapse	IEA
GO:0045907	Process	Positive regulation of vasoconstriction	IDA	15739255
GO:0045921	Process	Positive regulation of exocytosis	IDA	19193866
GO:0046872	Function	Metal ion binding	IEA
GO:0050714	Process	Positive regulation of protein secretion	IDA	19193866
GO:0050839	Function	Cell adhesion molecule binding	IDA	9182580
GO:0051258	Process	Protein polymerization	IBA	21873635
GO:0051258	Process	Protein polymerization	IDA	12706644
GO:0051592	Process	Response to calcium ion	IDA	6777381
GO:0062023	Component	Collagen-containing extracellular matrix	HDA	25037231, 28344315, 28675934
GO:0065003	Process	Protein-containing complex assembly	IMP	18676163
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IBA	21873635
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	10903502, 19193866
GO:0070527	Process	Platelet aggregation	HMP	23382103
GO:0070527	Process	Platelet aggregation	IBA	21873635
GO:0070527	Process	Platelet aggregation	IDA	6281794
GO:0072377	Process	Blood coagulation, common pathway	IBA	21873635
GO:0072377	Process	Blood coagulation, common pathway	IMP	12706644
GO:0072378	Process	Blood coagulation, fibrin clot formation	IDA	16846481
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0090277	Process	Positive regulation of peptide hormone secretion	IBA	21873635
GO:0090277	Process	Positive regulation of peptide hormone secretion	IDA	19193866
GO:1900026	Process	Positive regulation of substrate adhesion-dependent cell spreading	NAS	24041635
GO:1902042	Process	Negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	IBA	21873635
GO:1902042	Process	Negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	IDA	10903502
GO:1903561	Component	Extracellular vesicle	HDA	24769233
GO:2000352	Process	Negative regulation of endothelial cell apoptotic process	IBA	21873635
GO:2000352	Process	Negative regulation of endothelial cell apoptotic process	IDA	10903502

Other IDs

• MIM: 134820
• HGNC: 3661
• e!Ensembl: ENSG00000171560

Protein

• UniProt ID: P02671
• Protein name: Fibrinogen alpha chain [Cleaved into: Fibrinopeptide A; Fibrinogen alpha chain]
• Protein function: Cleaved by the protease thrombin to yield monomers which, together with fibrinogen beta (FGB) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin has a major function in hemostasis as one of the primary components o
• PDB: 1BBR, 1DM4, 1FPH, 1FZA, 1FZB, 1FZC, 1FZD, 1FZE, 1FZF, 1FZG, 1LT9, 1LTJ, 1N86, 1N8E, 1RE3, 1RE4, 1RF0, 1RF1, 1YCP, 2A45, 2FFD, 2H43, 2HLO, 2HOD, 2HPC, 2OYH, 2OYI, 2Q9I, 2XNX, 2XNY, 2Z4E, 3AT0, 3BVH, 3E1I, 3GHG, 3H32, 3HUS, 4F27, 5CFA
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08702	Fib_alpha	49 → 191	Fibrinogen alpha/beta chain family	Coiled-coil
  PF12160	Fibrinogen_aC	445 → 509	Fibrinogen alpha C domain	Domain
  PF00147	Fibrinogen_C	628 → 863	Fibrinogen beta and gamma chains, C-terminal globular domain	Domain

• Sequence:

  MFSMRIVCLVLSVVGTAWTADSGEGDFLAEGGGVRGPRVVERHQSACKDSDWPFCSDEDW
  NYKCPSGCRMKGLIDEVNQDFTNRINKLKNSLFEYQKNNKDSHSLTTNIMEILRGDFSSA
  NNRDNTYNRVSEDLRSRIEVLKRKVIEKVQHIQLLQKNVRAQLVDMKRLEVDIDIKIRSC
  RGSCSRALAREVDLKDYEDQQKQLEQVIAKDLLPSRDRQHLPLIKMKPVPDLVPGNFKSQ
  LQKVPPEWKALTDMPQMRMELERPGGNEITRGGSTSYGTGSETESPRNPSSAGSWNSGSS
  GPGSTGNRNPGSSGTGGTATWKPGSSGPGSTGSWNSGSSGTGSTGNQNPGSPRPGSTGTW
  NPGSSERGSAGHWTSESSVSGSTGQWHSESGSFRPDSPGSGNARPNNPDWGTFEEVSGNV
  SPGTRREYHTEKLVTSKGDKELRTGKEKVTSGSTTTTRRSCSKTVTKTVIGPDGHKEVTK
  EVVTSEDGSDCPEAMDLGTLSGIGTLDGFRHRHPDEAAFFDTASTGKTFPGFFSPMLGEF
  VSETESRGSESGIFTNTKESSSHHPGIAEFPSRGKSSSYSKQFTSSTSYNRGDSTFESKS
  YKMADEAGSEADHEGTHSTKRGHAKSRPVRDCDDVLQTHPSGTQSGIFNIKLPGSSKIFS
  VYCDQETSLGGWLLIQQRMDGSLNFNRTWQDYKRGFGSLNDEGEGEFWLGNDYLHLLTQR
  GSVLRVELEDWAGNEAYAEYHFRVGSEAEGYALQVSSYEGTAGDALIEGSVEEGAEYTSH
  NNMQFSTFDRDADQWEENCAEVYGGGWWYNNCQAANLNGIYYPGGSYDPRNNSPYEIENG
  VVWVSFRGADYSLRAVRMKIRPLVTQ

• Sequence length: 866

Pathways

KEGG:

Complement and coagulation cascades
Platelet activation
Neutrophil extracellular trap formation
Coronavirus disease - COVID-19

Reactome:

Platelet degranulation
Common Pathway of Fibrin Clot Formation
Integrin cell surface interactions
Integrin signaling
GRB2:SOS provides linkage to MAPK signaling for Integrins
p130Cas linkage to MAPK signaling for integrins
Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
MAP2K and MAPK activation
Regulation of TLR by endogenous ligand
Signaling by moderate kinase activity BRAF mutants
Signaling by high-kinase activity BRAF mutants
Signaling by BRAF and RAF fusions
Paradoxical activation of RAF signaling by kinase inactive BRAF
Post-translational protein phosphorylation
Signaling downstream of RAS mutants
Amyloid fiber formation

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Afibrinogenemia	Afibrinogenemia, Familial afibrinogenemia	rs121913087, rs121909625	10602365, 10891444, 1391954, 12358944
Amyloidosis	Amyloidosis, familial visceral, Amyloidosis, Familial	rs63750567, rs63750560, rs387906821, rs387906822, rs387906823, rs1561123748, rs140352180, rs770211260, rs763065333, rs1554300664, rs747723062, rs773435101	8097946, 23551149, 25427968, 8097946, 8639778
Cholestasis	Cholestasis	rs121909103, rs751511532, rs376368459, rs762702807, rs1578490102, rs1578499691, rs1578504946, rs1317656688, rs199791850, rs1452792080, rs1578491039	20974703
Complement component deficiency	Complement Factor I (C3 inactivator) deficiency	rs387906509, rs1467298230, rs1022194067, rs774370086, rs121964922, rs372345940, rs121913052, rs121913053, rs460897, rs121913054, rs121913056, rs121913058, rs796052138, rs41286844, rs121909592, rs34000044, rs121909594, rs121909587, rs121909588, rs387906554, rs587776846, rs2135727106, rs460184, rs775967055, rs398122811, rs140813121, rs146187042, rs372968576, rs398122867, rs398122868, rs9332736, rs398124644, rs142881576, rs531103546, rs764871530, rs778518669, rs139491301, rs61469168, rs1554718962, rs1565789104, rs1579848888, rs779723422, rs867425110, rs770367814
Congenital afibrinogenemia	Congenital hypofibrinogenemia	rs121913088, rs587776837, rs587776838, rs587776839, rs121909621, rs121909622, rs606231223, rs606231224, rs121909624, rs121909625, rs146387238, rs606231225, rs755117226, rs1553965519, rs1578810856, rs1578785111, rs1578796476	18676163, 17295221, 10602365, 25427968, 1391954, 11460507, 10891444, 12358944
Dysfibrinogenemia	Dysfibrinogenemia, Familial dysfibrinogenemia	rs121913087, rs121913088, rs121913091, rs121909606, rs121909607, rs146387238, rs762964798, rs1310452604, rs1578812509, rs1578783532
Hypertension	Hypertensive disease	rs13306026, rs13333226
Hypofibrinogenemia	Hypofibrinogenemia, Familial hypofibrinogenemia	rs121913087, rs121913088, rs587776837, rs121909616, rs121909625, rs121909608, rs121909607, rs146387238, rs1578795296, rs1214070111, rs776817952, rs762964798, rs121909606, rs1414035000, rs1310452604	31064749
Kidney disease	Kidney Diseases	rs74315342, rs749740335, rs757649673, rs112417755, rs35138315	8097946, 8639778
Nephrotic syndrome	Nephrotic Syndrome	rs876657369, rs121912601, rs121912602, rs876657370, rs121912603, rs121912604, rs121912605, rs121907900, rs121907901, rs28941778, rs587776576, rs28942089, rs587776577, rs28941777, rs121907910, rs1568296260, rs119473033, rs74315342, rs74315343, rs74315345, rs74315346, rs74315347, rs74315348, rs121434394, rs267606919, rs121912488, rs267606953, rs267606954, rs267606955, rs104886210, rs1591732280, rs1591750243, rs140511594, rs140781106, rs147972030, rs587776969, rs386833863, rs386833880, rs386833882, rs386833892, rs386833895, rs386833909, rs386833911, rs386833920, rs386833935, rs386833947, rs1555763603, rs398122978, rs398122979, rs398122980, rs369573693, rs398122981, rs398122982, rs398122983, rs200482683, rs730882194, rs180177201, rs587777552, rs587777553, rs775170915, rs749740335, rs12568913, rs530318579, rs786204583, rs786204708, rs786204632, rs138656762, rs797044992, rs797044994, rs797044995, rs864321632, rs864321687, rs864321688, rs864321633, rs869025495, rs869025541, rs869312747, rs145473779, rs757674160, rs869320695, rs138909849, rs869312984, rs1057516900, rs763818901, rs199506378, rs1057517164, rs1057516523, rs1057516414, rs778055996, rs1057516395, rs1057516747, rs1057516880, rs1057516680, rs778217926, rs1057519347, rs764587648, rs1060499703, rs121907903, rs769259446, rs1131692252, rs1131692253, rs1131692254, rs1131692255, rs1131692256, rs746887949, rs1131692235, rs1135402911, rs1135402912, rs1135402913, rs1554946480, rs1555331969, rs773173317, rs1555816634, rs775006954, rs1320543506, rs534522842, rs1272948499, rs1191455921, rs1291398331, rs1554939785, rs776016942, rs1031744496, rs748812981, rs755972674, rs1553312833, rs967339926, rs1462028977, rs1212702104, rs1167223941, rs762631237, rs1553316575, rs1553315173, rs1553316648, rs1553316611, rs780761368, rs368572297, rs1568070817, rs1321552081, rs1558108130, rs1558091788, rs1565707103, rs1558355124, rs1564622701, rs1351580598, rs1589475328, rs1589413498, rs1572255744, rs1572262824, rs761410195, rs1602413491, rs1590326226, rs375998390, rs570583897, rs369363545, rs201488687, rs1334894971, rs763782471, rs138047529, rs895782232, rs1572255047, rs1589433172, rs1589509476, rs1572277600, rs1572282458, rs1584675898, rs759043857, rs1853443391
Osteoporosis	Osteoporosis, Age-Related, Osteoporosis, Osteoporosis, Senile, Post-Traumatic Osteoporosis	rs72658152, rs72667023, rs587776916, rs72656370, rs768615287	18924182
Thrombophilia	Thrombophilia	rs118203912, rs118203911, rs121918141, rs121918142, rs121918143, rs121918144, rs121918145, rs121918146, rs121918147, rs121918148, rs121918149, rs121918151, rs121918152, rs121918153, rs121918154, rs1558715857, rs121918155, rs121918157, rs121918158, rs2104934553, rs121918159, rs121918160, rs121918477, rs121918473, rs121918474, rs267606981, rs2107137679, rs121918475, rs387906674, rs387907201, rs369504169, rs142742242, rs373983977, rs368074804, rs574132670, rs757583846, rs863224838, rs121918476, rs1333329860, rs1553424043, rs1553808038, rs5017717, rs374476971, rs1553809314, rs1553423955, rs767112991, rs1558718572, rs571278160, rs766261022, rs1321566264, rs1559926604, rs1241365457, rs759677822, rs1448630830, rs1305782685, rs1571577365, rs1247269491, rs777486993, rs201907715, rs769277939, rs199469503, rs1575904540, rs199469494, rs199469471, rs1189377845, rs1576182848, rs1688218776, rs1456533664, rs1709033502, rs1708668246, rs1708665916	8473507

Unknown
Disease name	Disease term	dbSNP ID	References
Congenital dysfibrinogenemia	Dysfibrinogenemia, Congenital		25427968, 14615374, 25320241, 16846481, 8473507
Congenital hypodysfibrinogenemia	Hypodysfibrinogenemia, Congenital
Fibrinogen a alpha-chain amyloidosis	AFib amyloidosis
Fibrinogen deficiency	Fibrinogen Deficiency		10891444, 12358944, 10602365, 1391954
Hypodysfibrinogenemia	Familial hypodysfibrinogenemia
Mouth neoplasms	Mouth Neoplasms		16239339
Malignant neoplasm of mouth	Malignant neoplasm of mouth		16239339
Pulmonary thromboembolism	Pulmonary Thromboembolisms		10910940
Stroke	Cerebrovascular accident, Acute Cerebrovascular Accidents		29531354