FGG (fibrinogen gamma chain)

Gene

• Entrez ID: 2266
• Gene name: Fibrinogen gamma chain
• Gene symbol: FGG
• Synonyms (NCBI Gene): -
• Chromosome: 4
• Chromosome location: 4q32.1
• Summary: The protein encoded by this gene is the gamma component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most ab

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs6063	C>T	Likely-benign, uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs78257946	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs121913087	G>A	Other, pathogenic	Missense variant, coding sequence variant
rs121913088	C>T	Other, pathogenic	Missense variant, coding sequence variant
rs138511699	G>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs148685782	G>C	Likely-benign, pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs587776837	C>T	Pathogenic, likely-pathogenic	Intron variant
rs587776838	C>T	Pathogenic	Intron variant
rs587776839	T>A	Pathogenic	Intron variant
rs587777720	A>G	Pathogenic	Missense variant, coding sequence variant
rs1310452604	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1414035000	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1553965519	C>T	Pathogenic	Stop gained, coding sequence variant
rs1560833290	C>-,CC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1578810856	A>T	Pathogenic	Intron variant
rs1578812509	T>A	Pathogenic	Coding sequence variant, stop gained

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT005519	hsa-miR-409-3p	ELISA, Flow, Luciferase reporter assay	20570858
MIRT005521	hsa-miR-29a-3p	ELISA, Flow, Luciferase reporter assay	20570858
MIRT005522	hsa-miR-29b-3p	ELISA, Flow, Luciferase reporter assay	20570858
MIRT005523	hsa-miR-144-3p	ELISA, Flow, Luciferase reporter assay	20570858
MIRT005525	hsa-miR-29c-3p	Luciferase reporter assay	20570858
MIRT005523	hsa-miR-144-3p	Luciferase reporter assay	20570858
MIRT005521	hsa-miR-29a-3p	Luciferase reporter assay	20570858
MIRT005522	hsa-miR-29b-3p	Luciferase reporter assay	20570858
MIRT005525	hsa-miR-29c-3p	Luciferase reporter assay	20570858
MIRT716822	hsa-miR-188-5p	HITS-CLIP	19536157
MIRT716821	hsa-miR-6866-3p	HITS-CLIP	19536157
MIRT716819	hsa-miR-4645-5p	HITS-CLIP	19536157
MIRT716820	hsa-miR-4673	HITS-CLIP	19536157
MIRT716818	hsa-miR-4780	HITS-CLIP	19536157
MIRT716817	hsa-miR-6780b-3p	HITS-CLIP	19536157
MIRT716816	hsa-miR-4786-5p	HITS-CLIP	19536157
MIRT716815	hsa-miR-769-5p	HITS-CLIP	19536157
MIRT716814	hsa-miR-5008-5p	HITS-CLIP	19536157
MIRT716813	hsa-miR-6089	HITS-CLIP	19536157
MIRT716812	hsa-miR-4755-3p	HITS-CLIP	19536157
MIRT716811	hsa-miR-623	HITS-CLIP	19536157
MIRT716810	hsa-miR-3672	HITS-CLIP	19536157
MIRT716809	hsa-miR-6864-3p	HITS-CLIP	19536157
MIRT716808	hsa-miR-6765-5p	HITS-CLIP	19536157
MIRT716807	hsa-miR-1304-5p	HITS-CLIP	19536157
MIRT716822	hsa-miR-188-5p	HITS-CLIP	19536157
MIRT716821	hsa-miR-6866-3p	HITS-CLIP	19536157
MIRT716819	hsa-miR-4645-5p	HITS-CLIP	19536157
MIRT716820	hsa-miR-4673	HITS-CLIP	19536157
MIRT716818	hsa-miR-4780	HITS-CLIP	19536157
MIRT716817	hsa-miR-6780b-3p	HITS-CLIP	19536157
MIRT716816	hsa-miR-4786-5p	HITS-CLIP	19536157
MIRT716815	hsa-miR-769-5p	HITS-CLIP	19536157
MIRT716814	hsa-miR-5008-5p	HITS-CLIP	19536157
MIRT716813	hsa-miR-6089	HITS-CLIP	19536157
MIRT716812	hsa-miR-4755-3p	HITS-CLIP	19536157
MIRT716811	hsa-miR-623	HITS-CLIP	19536157
MIRT716810	hsa-miR-3672	HITS-CLIP	19536157
MIRT716809	hsa-miR-6864-3p	HITS-CLIP	19536157
MIRT716808	hsa-miR-6765-5p	HITS-CLIP	19536157
MIRT716807	hsa-miR-1304-5p	HITS-CLIP	19536157

Transcription factors

Transcription factor	Regulation	Reference
STAT3	Activation	11460505

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005102	Function	Signaling receptor binding	IBA
GO:0005102	Function	Signaling receptor binding	IEA
GO:0005102	Function	Signaling receptor binding	IPI	7822297
GO:0005198	Function	Structural molecule activity	IDA	8910396
GO:0005201	Function	Extracellular matrix structural constituent	HDA	28344315
GO:0005201	Function	Extracellular matrix structural constituent	RCA	25037231, 28327460, 28675934
GO:0005515	Function	Protein binding	IPI	10788510, 21546586, 26627825
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005577	Component	Fibrinogen complex	IDA	6451630, 8470043, 8910396, 16846481, 18676163
GO:0005577	Component	Fibrinogen complex	IEA
GO:0005615	Component	Extracellular space	HDA	16502470
GO:0005615	Component	Extracellular space	IBA
GO:0005615	Component	Extracellular space	IDA	6777381
GO:0005788	Component	Endoplasmic reticulum lumen	TAS
GO:0005886	Component	Plasma membrane	TAS
GO:0007160	Process	Cell-matrix adhesion	IBA
GO:0007160	Process	Cell-matrix adhesion	IDA	10903502
GO:0007596	Process	Blood coagulation	IEA
GO:0007599	Process	Hemostasis	IEA
GO:0009306	Process	Protein secretion	IMP	18676163
GO:0009897	Component	External side of plasma membrane	IDA	6777381
GO:0009897	Component	External side of plasma membrane	IEA
GO:0009986	Component	Cell surface	IDA	6777381
GO:0030168	Process	Platelet activation	IEA
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28327460, 28344315, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0031091	Component	Platelet alpha granule	IDA	6777381
GO:0031093	Component	Platelet alpha granule lumen	IEA
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0031639	Process	Plasminogen activation	IDA	16846481
GO:0031639	Process	Plasminogen activation	IEA
GO:0034116	Process	Positive regulation of heterotypic cell-cell adhesion	IDA	8100742
GO:0034116	Process	Positive regulation of heterotypic cell-cell adhesion	IEA
GO:0042730	Process	Fibrinolysis	IDA	16846481
GO:0042730	Process	Fibrinolysis	IEA
GO:0045907	Process	Positive regulation of vasoconstriction	IDA	15739255
GO:0045907	Process	Positive regulation of vasoconstriction	IEA
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:0050714	Process	Positive regulation of protein secretion	IEA
GO:0050839	Function	Cell adhesion molecule binding	IPI	7822297
GO:0051258	Process	Protein polymerization	IEA
GO:0051258	Process	Protein polymerization	IMP	12706644
GO:0051592	Process	Response to calcium ion	IDA	6777381
GO:0051592	Process	Response to calcium ion	IEA
GO:0065003	Process	Protein-containing complex assembly	IDA	8910396
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145
GO:0070374	Process	Positive regulation of ERK1 and ERK2 cascade	IDA	10903502, 19193866
GO:0070527	Process	Platelet aggregation	IBA
GO:0070527	Process	Platelet aggregation	IDA	6281794
GO:0070527	Process	Platelet aggregation	IEA
GO:0072378	Process	Blood coagulation, fibrin clot formation	IDA	16846481
GO:0072378	Process	Blood coagulation, fibrin clot formation	IEA
GO:0072378	Process	Blood coagulation, fibrin clot formation	IMP	11001902
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:0090277	Process	Positive regulation of peptide hormone secretion	IDA	19193866
GO:0090277	Process	Positive regulation of peptide hormone secretion	IEA
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	IDA	10903502
GO:1902042	Process	Negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	IEA
GO:2000352	Process	Negative regulation of endothelial cell apoptotic process	IDA	10903502
GO:2000352	Process	Negative regulation of endothelial cell apoptotic process	IEA

Other IDs

• MIM: 134850
• HGNC: 3694
• e!Ensembl: ENSG00000171557

Protein

• UniProt ID: P02679
• Protein name: Fibrinogen gamma chain
• Protein function: Together with fibrinogen alpha (FGA) and fibrinogen beta (FGB), polymerizes to form an insoluble fibrin matrix. Has a major function in hemostasis as one of the primary components of blood clots. In addition, functions during the early stages of
• PDB: 1DUG, 1FIB, 1FIC, 1FID, 1FZA, 1FZB, 1FZC, 1FZE, 1FZF, 1FZG, 1LT9, 1LTJ, 1N86, 1N8E, 1RE3, 1RE4, 1RF0, 1RF1, 2A45, 2FFD, 2FIB, 2H43, 2HLO, 2HOD, 2HPC, 2HWL, 2OYH, 2OYI, 2Q9I, 2VDO, 2VDP, 2VDQ, 2VDR, 2VR3, 2XNX, 2XNY, 2Y7L, 2Z4E, 3BVH, 3E1I, 3FIB, 3GHG, 3H32, 3HUS, 4B60
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08702	Fib_alpha	30 → 172	Fibrinogen alpha/beta chain family	Coiled-coil
  PF00147	Fibrinogen_C	175 → 415	Fibrinogen beta and gamma chains, C-terminal globular domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Detected in blood plasma (at protein level). {ECO:0000269|PubMed:10074346, ECO:0000269|PubMed:19296670, ECO:0000269|PubMed:9628725}.
• Sequence:

  MSWSLHPRNLILYFYALLFLSSTCVAYVATRDNCCILDERFGSYCPTTCGIADFLSTYQT
  KVDKDLQSLEDILHQVENKTSEVKQLIKAIQLTYNPDESSKPNMIDAATLKSRKMLEEIM
  KYEASILTHDSSIRYLQEIYNSNNQKIVNLKEKVAQLEAQCQEPCKDTVQIHDITGKDCQ
  DIANKGAKQSGLYFIKPLKANQQFLVYCEIDGSGNGWTVFQKRLDGSVDFKKNWIQYKEG
  FGHLSPTGTTEFWLGNEKIHLISTQSAIPYALRVELEDWNGRTSTADYAMFKVGPEADKY
  RLTYAYFAGGDAGDAFDGFDFGDDPSDKFFTSHNGMQFSTWDNDNDKFEGNCAEQDGSGW
  WMNKCHAGHLNGVYYQGGTYSKASTPNGYDNGIIWATWKTRWYSMKKTTMKIIPFNRLTI
  GEGQQHHLGGAKQVRPEHPAETEYDSLYPEDDL

• Sequence length: 453

Pathways

KEGG:

Complement and coagulation cascades
Platelet activation
Neutrophil extracellular trap formation
Staphylococcus aureus infection
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

Associated diseases

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Abnormal bleeding	Pathogenic	rs1578812509	RCV000851634
Afibrinogenemia	Likely pathogenic; Pathogenic	rs121913087	RCV002243649
Congenital afibrinogenemia	Pathogenic; Likely pathogenic	rs75848804, rs121913088, rs587776837, rs587776838, rs587776839, rs1553965519, rs1578810856	RCV005412537 RCV005229813 RCV000017798 RCV000017799 RCV000017802 RCV000600509 RCV000984549
Familial dysfibrinogenemia	Pathogenic; Likely pathogenic	rs2110850824, rs75848804, rs121913094, rs1553965518, rs121913087, rs121913088, rs121913091, rs2530855793, rs1578812509	RCV001730003 RCV005412537 RCV003444468 RCV003447705 RCV002272022 RCV002225266 RCV001797589 RCV004586097 RCV003987698
FGG-related disorder	Likely pathogenic; Pathogenic	rs121913087, rs121913091	RCV004754264 RCV003398534
FIBRINOGEN ASAHI	Likely pathogenic; Pathogenic	rs121913091	RCV000017786
FIBRINOGEN HAIFA 1	Likely pathogenic; Pathogenic	rs121913088	RCV000017777
FIBRINOGEN TOKYO 2	Likely pathogenic; Pathogenic	rs121913087	RCV000017772
Hereditary spastic paraplegia 4	Pathogenic	rs75848804	RCV003314519
Hypofibrinogenemia	Likely pathogenic; Pathogenic	rs121913087, rs121913088, rs587776837, rs1414035000	RCV000851951 RCV000851952 RCV000852217 RCV000851919

Unknown
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
FIBRINOGEN BALTIMORE 1	other; Uncertain significance	rs121913089	RCV000017783
FIBRINOGEN BALTIMORE 3	Uncertain significance	rs121913090	RCV000017785
FIBRINOGEN GIESSEN 4	other	rs267606810	RCV000017797
FIBRINOGEN HILLSBOROUGH	other	rs121913096	RCV000017801
FIBRINOGEN KYOTO 1	other	rs1578808538	RCV000017784
FIBRINOGEN KYOTO 3	other	rs121913093	RCV000017789
FIBRINOGEN MATSUMOTO 1	other	rs121913095	RCV000017796
FIBRINOGEN MILANO 1	other	rs121913094	RCV000017790
Fibrinogen Milano XII, digenic	Conflicting classifications of pathogenicity	rs6063	RCV000017800
FIBRINOGEN NAGOYA 1	other	rs121913092	RCV000017788
FIBRINOGEN OSAKA 5	other	rs75848804	RCV000017795
FIBRINOGEN PARIS 1	Conflicting classifications of pathogenicity	rs2066862	RCV000017793
FIBRINOGEN VLISSINGEN 1	other	rs2530855797	RCV000017787
Hemorrhage	Uncertain significance	rs371692602	RCV002281008
Hereditary factor I deficiency disease	Conflicting classifications of pathogenicity	rs148685782	RCV006449276
Hypodysfibrinogenemia	Uncertain significance	rs587777720	RCV000144152
See cases	Uncertain significance	rs1731071910	RCV004584476
Thrombocytopenia	Conflicting classifications of pathogenicity	rs148685782	RCV001270551
Thromboembolism	Uncertain significance	rs751435976, rs1578812818	RCV000851796 RCV000852061
Thrombus	Conflicting classifications of pathogenicity	rs148685782	RCV002280883

Associations from Text Mining
Disease Name	Relationship Type	References
Acute Disease	Stimulate	24335474
Afibrinogenemia	Associate	10891444, 11001902, 16959688, 17854317, 25038212, 26039544, 27520927, 29240685, 29769041, 32228225, 32698516, 34196169, 40310436
Amyloidosis Familial	Associate	29240685
Amyotrophic Lateral Sclerosis	Associate	39278909
Arthritis	Associate	30770760
Ataxia Telangiectasia	Associate	32496505
Atrophy	Associate	29769041
Blood Coagulation Disorders	Associate	36471393, 36507906
Brain Diseases	Associate	29769041
Carcinoma Hepatocellular	Associate	16980951, 19596924
Carcinoma Squamous Cell	Associate	37841237
Cardiomyopathy Dilated	Associate	29540862
Carotid Artery Thrombosis	Associate	22707612
Cerebral Infarction	Associate	40310436
Chemical and Drug Induced Liver Injury	Associate	26039544
Colitis Ulcerative	Associate	23388545
Contusions	Associate	33186848
Coronary Artery Disease	Associate	20167083, 26908601
COVID 19	Associate	35017110
Depressive Disorder	Stimulate	34488523
Dermatomyositis	Associate	30352204
Dysfibrinogenemia Congenital	Associate	19949684, 29240685
Fibrosis	Associate	36941570
Glomerulonephritis IGA	Stimulate	36941570
Heart Diseases	Associate	32174066
Hodgkin Disease	Associate	32235718, 36077307
Hypodysfibrinogenemia Congenital	Associate	16959688, 33186848
Inflammation	Associate	30770760
Laryngeal Neoplasms	Associate	36033826
Liver Diseases	Associate	32698516
Lymphohistiocytosis Hemophagocytic	Associate	37653176
Lymphoma Non Hodgkin	Associate	25038212
Menorrhagia	Associate	33186848
Microvascular Angina	Associate	31484330
Muscular Dystrophy Duchenne	Associate	40483507
Myocardial Infarction	Associate	18772067
Myotonic Dystrophy	Associate	36507906
Neoplasm Metastasis	Associate	32496505
Neoplasms	Stimulate	23388545
Neoplasms	Associate	30353998, 31582554, 32671915, 37817112
Neoplasms Plasma Cell	Associate	32698516
Neoplastic Syndromes Hereditary	Associate	29769041, 32698516
Neurodegenerative Diseases	Associate	29769041
Osteoarthritis	Associate	39684216
Pleural Effusion Malignant	Associate	16899477
Pulmonary Disease Chronic Obstructive	Associate	34764646
Retinal Perforations	Associate	37530283
Retinal Vein Occlusion	Associate	36820679
Sepsis Associated Encephalopathy	Stimulate	37958765
Stomach Neoplasms	Associate	30106150
Stroke	Associate	26908601
Thrombosis	Associate	16144795, 17263791, 22707612, 27999448, 36028558, 40310436
Tibial Meniscus Injuries	Associate	31484330
Uveal melanoma	Associate	33120861
Vasculitis	Associate	30352204
Venous Thromboembolism	Associate	23150947, 23650146, 25472531, 26565658, 26908601, 28373160, 29094466, 30773804, 31582554, 32671915, 34200207
Venous Thromboembolism	Inhibit	33834859
Venous Thrombosis	Associate	16144795, 17403086, 21980494, 22707612, 30168256, 32342502, 34200207
Venous Thrombosis	Inhibit	20156641