Gene Gene information from NCBI Gene database.
Entrez ID 2244
Gene name Fibrinogen beta chain
Gene symbol FGB
Synonyms (NCBI Gene)
HEL-S-78p
Chromosome 4
Chromosome location 4q31.3
Summary The protein encoded by this gene is the beta 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 abu
SNPs SNP information provided by dbSNP.
10
SNP ID Visualize variation Clinical significance Consequence
rs6054 C>T Likely-benign, likely-pathogenic, pathogenic, uncertain-significance Coding sequence variant, missense variant
rs121909616 C>T Other, likely-pathogenic Missense variant, coding sequence variant
rs121909621 T>G Pathogenic Missense variant, coding sequence variant
rs121909622 G>A Pathogenic Missense variant, coding sequence variant
rs121909624 T>A,C Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
145
miRTarBase ID miRNA Experiments Reference
MIRT005517 hsa-miR-409-3p ELISAFlowLuciferase reporter assay 20570858
MIRT005526 hsa-miR-29c-3p Luciferase reporter assay 20570858
MIRT005530 hsa-miR-144-3p Luciferase reporter assay 20570858
MIRT005532 hsa-miR-29a-3p Luciferase reporter assay 20570858
MIRT005534 hsa-miR-29b-3p Luciferase reporter assay 20570858
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
FOXM1 Repression 15737987
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
61
GO ID Ontology Definition Evidence Reference
GO:0002250 Process Adaptive immune response IEA
GO:0002376 Process Immune system process IEA
GO:0005102 Function Signaling receptor binding IDA 10903502
GO:0005102 Function Signaling receptor binding IEA
GO:0005198 Function Structural molecule activity IDA 8910396
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
134830 3662 ENSG00000171564
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P02675
Protein name Fibrinogen beta chain [Cleaved into: Fibrinopeptide B; Fibrinogen beta chain]
Protein function Cleaved by the protease thrombin to yield monomers which, together with fibrinogen alpha (FGA) and fibrinogen gamma (FGG), polymerize to form an insoluble fibrin matrix. Fibrin has a major function in hemostasis as one of the primary components
PDB 1FZA , 1FZB , 1FZC , 1FZE , 1FZF , 1FZG , 1LT9 , 1LTJ , 1N86 , 1N8E , 1RE3 , 1RE4 , 1RF0 , 1RF1 , 2A45 , 2FFD , 2H43 , 2HLO , 2HOD , 2HPC , 2OYH , 2OYI , 2Q9I , 2XNX , 2XNY , 2Z4E , 3BVH , 3E1I , 3GHG , 3H32 , 3HUS , 6ATZ , 6BIJ , 6BIL , 6V0Y , 6V13 , 6V15 , 6V18 , 6V19 , 6V1A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF08702 Fib_alpha 91 234 Fibrinogen alpha/beta chain family Coiled-coil
PF00147 Fibrinogen_C 237 487 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
Sequence length 491
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Complement and coagulation cascades
Platelet activation
Neutrophil extracellular trap formation
Coronavirus disease - COVID-19
  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
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
Signaling downstream of RAS mutants
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
42
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Afibrinogenemia Likely pathogenic; Pathogenic rs121909625 RCV002243650
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Congenital afibrinogenemia Pathogenic; Likely pathogenic rs121909621, rs121909622, rs606231223, rs606231224, rs121909624, rs121909625, rs1578785111 RCV000017815
RCV000017816
RCV000017818
RCV000017819
RCV000017821
RCV000017822
RCV000984797
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Familial dysfibrinogenemia Likely pathogenic; Pathogenic rs2530775972, rs1578783532, rs111502670 RCV003493346
RCV000984798
RCV001260487
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
FGB-related disorder Likely pathogenic rs2530775972, rs2530766247 RCV004747302
RCV003898936
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Abnormal bleeding Conflicting classifications of pathogenicity; Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CARDIOVASCULAR DISEASES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CAROTID ARTERY DISEASES Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma Benign; Likely benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
AA amyloidosis Associate 16221199, 37353960
★☆☆☆☆
Found in Text Mining only
Abortion Habitual Associate 18759277
★☆☆☆☆
Found in Text Mining only
Abortion Spontaneous Associate 19229055, 9332319
★☆☆☆☆
Found in Text Mining only
Abruptio Placentae Associate 13960907
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Associate 24203353
★☆☆☆☆
Found in Text Mining only
Acute Disease Stimulate 24335474
★☆☆☆☆
Found in Text Mining only
Acute Kidney Injury Associate 33801801
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of Lung Associate 31393394, 33181687
★☆☆☆☆
Found in Text Mining only
Adrenal Hyperplasia Congenital Associate 26075496
★☆☆☆☆
Found in Text Mining only
Afibrinogenemia Associate 10688828, 10880389, 10891444, 11001902, 12393540, 12511408, 12871501, 13960907, 14629469, 15070682, 15613026, 15632207, 16565503, 17082318, 17650452
View all (15 more)
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)