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FGA Gene(Protein Coding)

Fibrinogen Alpha Chain

GCID:
GC04M154583
GIFtS:
54
Genes Participants
UDN Logo

Aliases for FGA Gene

Aliases for FGA Gene

  • Fibrinogen Alpha Chain 2 3 3 5
  • Fibrinogen, A Alpha Polypeptide 2 3
  • Fib2 3

External Ids for FGA Gene

Previous GeneCards Identifiers for FGA Gene

  • GC04M156353
  • GC04M155892
  • GC04M155970
  • GC04M156081
  • GC04M155826
  • GC04M155723
  • GC04M155504
  • GC04M151244

Summaries for FGA Gene

Entrez Gene Summary for FGA Gene

  • 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. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. [provided by RefSeq, Jan 2016]

GeneCards Summary for FGA Gene

FGA (Fibrinogen Alpha Chain) is a Protein Coding gene. Diseases associated with FGA include Dysfibrinogenemia, Congenital and Afibrinogenemia, Congenital. Among its related pathways are Signaling by moderate kinase activity BRAF mutants and RET signaling. Gene Ontology (GO) annotations related to this gene include signaling receptor binding and protein binding, bridging. An important paralog of this gene is TNC.

UniProtKB/Swiss-Prot for FGA Gene

  • 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 of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re-epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However, subsequent studies have shown that it is not absolutely required for thrombus formation in vivo. Enhances expression of SELP in activated platelets via an ITGB3-dependent pathway. Maternal fibrinogen is essential for successful pregnancy. Fibrin deposition is also associated with infection, where it protects against IFNG-mediated hemorrhage. May also facilitate the immune response via both innate and T-cell mediated pathways.

Gene Wiki entry for FGA Gene

Additional gene information for FGA Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for FGA Gene

Genomics for FGA Gene

Products:

  1. Regulatory Element

GeneHancer (GH) Regulatory Elements for FGA Gene

Promoters and enhancers for FGA Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH04J154589 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 650.7 -0.1 -66 3.3 FOXA2 MLX ARID4B DMAP1 ZNF48 ETS1 YY1 NFKBIZ PAF1 RXRA FGA FGG LRAT
GH04J154598 Enhancer 0.9 FANTOM5 21.2 -7.5 -7488 0.2 FOXA2 MLX ARID4B ETS1 YY1 ATF7 NFKBIZ RXRA REST PPARG FGA FGB FGG LRAT
GH04J154506 Enhancer 0.7 ENCODE 9.7 +83.6 83598 1.4 CTCF FOXA2 ZNF140 RAD21 CTBP1 FOXK2 ARID2 FOSL2 FOS SMARCE1 PLRG1 RNU6-1285P LRAT FGA DCHS2 LOC100128050
GH04J154615 Enhancer 0.4 FANTOM5 3.5 -24.7 -24684 0.1 SP1 YY1 FGB FGA FGG LRAT
GH04J154612 Promoter/Enhancer 1.8 VISTA EPDnew ENCODE 0.3 -22.2 -22186 1.8 FOXA2 MLX ARID4B YY1 NFKBIZ RXRA SP5 NFYC MXD4 REST FGG FGA
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FGA on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the FGA gene promoter:
  • STAT3
  • Pbx1a
  • ISGF-3
  • FOXO3
  • FOXO3a
  • FOXO3b
  • Evi-1
  • Tal-1
  • E47

Genomic Locations for FGA Gene

Genomic Locations for FGA Gene
chr4:154,583,126-154,590,766
(GRCh38/hg38)
Size:
7,641 bases
Orientation:
Minus strand
chr4:155,504,278-155,511,918
(GRCh37/hg19)
Size:
7,641 bases
Orientation:
Minus strand

Genomic View for FGA Gene

Genes around FGA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FGA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FGA Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FGA Gene

Proteins for FGA Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for FGA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P02671-FIBA_HUMAN
    Recommended name:
    Fibrinogen alpha chain
    Protein Accession:
    P02671
    Secondary Accessions:
    • A8K3E4
    • D3DP14
    • D3DP15
    • Q4QQH7
    • Q9BX62
    • Q9UCH2

    Protein attributes for FGA Gene

    Size:
    866 amino acids
    Molecular mass:
    94973 Da
    Quaternary structure:
    • Heterohexamer; disulfide linked. Contains 2 sets of 3 non-identical chains (alpha, beta and gamma). The 2 heterotrimers are in head to head conformation with the N-termini in a small central domain.

    Three dimensional structures from OCA and Proteopedia for FGA Gene

    Alternative splice isoforms for FGA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FGA Gene

Protein Expression for FGA Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for FGA Gene

  • The alpha chain is normally not N-glycosylated (PubMed:23151259), even though glycosylation at Asn-686 was observed when a fragment of the protein was expressed in insect cells (PubMed:9689040). It is well known that heterologous expression of isolated domains can lead to adventitious protein modifications. Besides, glycosylation at Asn-686 is supported by large-scale glycoproteomics studies (PubMed:16335952 and PubMed:19159218), but the evidence is still quite tenuous. Most likely, Asn-686 is not glycosylated in the healthy human body, or only with low efficiency.
  • O-glycosylated.
  • Forms F13A-mediated cross-links between a glutamine and the epsilon-amino group of a lysine residue, forming fibronectin-fibrinogen heteropolymers.
  • About one-third of the alpha chains in the molecules in blood were found to be phosphorylated.
  • Conversion of fibrinogen to fibrin is triggered by thrombin, which cleaves fibrinopeptides A and B from alpha and beta chains, and thus exposes the N-terminal polymerization sites responsible for the formation of the soft clot. The soft clot is converted into the hard clot by factor XIIIA which catalyzes the epsilon-(gamma-glutamyl)lysine cross-linking between gamma chains (stronger) and between alpha chains (weaker) of different monomers.
  • Phosphorylated by FAM20C in the extracellular medium.
  • Glycosylation at isoforms=686, Thr616, isoforms=2586, Ser562, Thr525, isoforms=2453, Ser351, isoforms=2320, Thr283, isoforms=2252, and Thr107
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect
    • FIBA_HUMAN (157)

Other Protein References for FGA Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for FGA Gene

Domains & Families for FGA Gene

Gene Families for FGA Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • FDA approved drug targets
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for FGA Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for FGA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P02671

UniProtKB/Swiss-Prot:

FIBA_HUMAN :
  • A long coiled coil structure formed by 3 polypeptide chains connects the central nodule to the C-terminal domains (distal nodules). The long C-terminal ends of the alpha chains fold back, contributing a fourth strand to the coiled coil structure.
Domain:
  • A long coiled coil structure formed by 3 polypeptide chains connects the central nodule to the C-terminal domains (distal nodules). The long C-terminal ends of the alpha chains fold back, contributing a fourth strand to the coiled coil structure.
genes like me logo Genes that share domains with FGA: view

Function for FGA Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for FGA Gene

UniProtKB/Swiss-Prot 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 of blood clots. In addition, functions during the early stages of wound repair to stabilize the lesion and guide cell migration during re-epithelialization. Was originally thought to be essential for platelet aggregation, based on in vitro studies using anticoagulated blood. However, subsequent studies have shown that it is not absolutely required for thrombus formation in vivo. Enhances expression of SELP in activated platelets via an ITGB3-dependent pathway. Maternal fibrinogen is essential for successful pregnancy. Fibrin deposition is also associated with infection, where it protects against IFNG-mediated hemorrhage. May also facilitate the immune response via both innate and T-cell mediated pathways.
GENATLAS Biochemistry:
fibrinogen,alpha polypeptide,63kDa (see FG@)

Phenotypes From GWAS Catalog for FGA Gene

Gene Ontology (GO) - Molecular Function for FGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005102 contributes_to signaling receptor binding IDA,IEA 10903502
GO:0005198 structural molecule activity IMP 10891444
GO:0005515 protein binding IPI 10954706
GO:0030674 protein binding, bridging IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with FGA: view
genes like me logo Genes that share phenotypes with FGA: view

Human Phenotype Ontology for FGA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FGA Gene

MGI Knock Outs for FGA:
  • Fga Fga<tm1Jld>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGA

Clone Products

  • Addgene plasmids for FGA

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for FGA Gene

Localization for FGA Gene

Subcellular locations from UniProtKB/Swiss-Prot for FGA Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FGA gene
Compartment Confidence
extracellular 5
endoplasmic reticulum 5
plasma membrane 4
nucleus 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for FGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005577 fibrinogen complex IEA,IDA 8910396
GO:0005615 extracellular space IDA 6777381
GO:0005788 endoplasmic reticulum lumen TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with FGA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for FGA Gene

Pathways & Interactions for FGA Gene

SuperPathways for FGA Gene

PathCards logo More details on SuperPathways for FGA
SuperPathway Contained pathways
1 RET signaling
Frs2-mediated activation
.95
GRB2 events in EGFR signaling
.95
MAPK1/MAPK3 signaling
.95
Prolonged ERK activation events
.95
RAF/MAP kinase cascade
.95
SHC1 events in EGFR signaling
.95
Signaling by Leptin
.95
SOS-mediated signalling
.95
VEGFR2 mediated cell proliferation
.95
ARMS-mediated activation
.95
Signalling to ERKs
.95
Signalling to p38 via RIT and RIN
.95
Signalling to RAS
.95
Interleukin receptor SHC signaling
.95
Interleukin-3, 5 and GM-CSF signaling
.94
Interleukin-2 signaling
.94
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
RET signaling
.92
Insulin receptor signalling cascade
.92
Signaling by Insulin receptor
.92
IRS-mediated signalling
.91
Signaling by EGFR
.90
FCERI mediated MAPK activation
.90
IGF1R signaling cascade
.90
IRS-related events triggered by IGF1R
.90
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
.90
DAP12 interactions
.89
NCAM signaling for neurite out-growth
.89
NGF signalling via TRKA from the plasma membrane
.87
MAPK family signaling cascades
.87
Signaling by SCF-KIT
.85
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
Gastrin-CREB signalling pathway via PKC and MAPK
.55
2 Signaling by moderate kinase activity BRAF mutants
MAP2K and MAPK activation
.90
Paradoxical activation of RAF signaling by kinase inactive BRAF
.90
Signaling by high-kinase activity BRAF mutants
.90
Signaling by moderate kinase activity BRAF mutants
.90
Signaling by RAS mutants
.78
3 Formation of Fibrin Clot (Clotting Cascade)
Common Pathway of Fibrin Clot Formation
.56
Formation of Fibrin Clot (Clotting Cascade)
.56
Blood Clotting Cascade
.45
Extrinsic Prothrombin Activation Pathway
.01
4 Integrin alphaIIb beta3 signaling
Integrin alphaIIb beta3 signaling
.74
Platelet Aggregation (Plug Formation)
.74
GRB2-SOS provides linkage to MAPK signaling for Integrins
.01
p130Cas linkage to MAPK signaling for integrins
.01
5 Response to elevated platelet cytosolic Ca2+
Platelet activation, signaling and aggregation
.49
Response to elevated platelet cytosolic Ca2+
.49
Platelet degranulation
.47
Hemostasis
.44
genes like me logo Genes that share pathways with FGA: view

SIGNOR curated interactions for FGA Gene

Activates:

Gene Ontology (GO) - Biological Process for FGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002224 toll-like receptor signaling pathway TAS --
GO:0002250 adaptive immune response IEA --
GO:0002376 immune system process IEA --
GO:0002576 platelet degranulation TAS --
GO:0007160 cell-matrix adhesion IDA 10903502
genes like me logo Genes that share ontologies with FGA: view

Drugs & Compounds for FGA Gene

Products:

  1. Drug

(43) Drugs for FGA Gene - From: DrugBank, DGIdb, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Alteplase Approved Pharma activator, Target 0
Anistreplase Approved Pharma activator, Target 0
Reteplase Approved, Investigational Pharma activator, Target 6
Ancrod Approved, Investigational Pharma Target 6
Anti-inhibitor coagulant complex Approved, Investigational Pharma Target, cleavage 0

(37) Additional Compounds for FGA Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with FGA: view

Transcripts for FGA Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for FGA Gene

(2) REFSEQ mRNAs :
(13) Additional mRNA sequences :
(761) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for FGA Gene

Fibrinogen alpha chain:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FGA

Clone Products

  • Addgene plasmids for FGA

Alternative Splicing Database (ASD) splice patterns (SP) for FGA Gene

No ASD Table

Relevant External Links for FGA Gene

GeneLoc Exon Structure for
FGA
ECgene alternative splicing isoforms for
FGA

Expression for FGA Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for FGA Gene

mRNA expression in normal human tissues for FGA Gene
mRNA expression by GTEx for FGA GenemRNA expression by BioGPS for FGA Gene

mRNA differential expression in normal tissues according to GTEx for FGA Gene

This gene is overexpressed in Liver (x52.6).

Protein differential expression in normal tissues from HIPED for FGA Gene

This gene is overexpressed in Lavage (15.6), Plasma (9.9), and Synovial fluid (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FGA Gene



Protein tissue co-expression partners for FGA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of FGA Gene:

FGA

SOURCE GeneReport for Unigene cluster for FGA Gene:

Hs.351593

mRNA Expression by UniProt/SwissProt for FGA Gene:

P02671-FIBA_HUMAN
Tissue specificity: Detected in blood plasma (at protein level).

Evidence on tissue expression from TISSUES for FGA Gene

  • Liver(5)
  • Blood(4.8)
  • Heart(4.5)
  • Nervous system(4.4)
  • Bone marrow(4.2)
  • Gall bladder(2.7)
  • Kidney(2.5)
  • Spleen(2.3)
  • Intestine(2.1)
  • Muscle(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FGA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeleton
  • urinary
Regions:
Head and neck:
  • ear
  • eye
  • face
  • head
  • mouth
  • nose
  • pituitary gland
Thorax:
  • heart
  • lung
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • ovary
  • ureter
  • urinary bladder
  • uterus
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with FGA: view

Orthologs for FGA Gene

This gene was present in the common ancestor of animals.

Orthologs for FGA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia FGA 34 33
  • 98.73 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia FGA 34 33
  • 82.69 (n)
 OneToOne
rat
(Rattus norvegicus)
 Mammalia Fga 33
  • 77.45 (n)
mouse
(Mus musculus)
 Mammalia Fga 16 34 33
  • 77.35 (n)
oppossum
(Monodelphis domestica)
 Mammalia FGA 34
  • 61 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia FGA 34
  • 61 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia FGA 34
  • 57 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves FGA 34 33
  • 59.98 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia FGA 34
  • 47 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia fga 33
  • 60.41 (n)
Str.8667 33
African clawed frog
(Xenopus laevis)
 Amphibia fga-prov 33
zebrafish
(Danio rerio)
 Actinopterygii fga 34 33
  • 54.01 (n)
 OneToOne
wufb59b03 33
fruit fly
(Drosophila melanogaster)
 Insecta CG8642 35
  • 42 (a)
CG1791 35
  • 38 (a)
sca 34
  • 16 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 34
  • 42 (a)
 OneToOne
Species where no ortholog for FGA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for FGA Gene

ENSEMBL:
Gene Tree for FGA (if available)
TreeFam:
Gene Tree for FGA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FGA: view image

Paralogs for FGA Gene

Paralogs for FGA Gene

(6) SIMAP similar genes for FGA Gene using alignment to 5 proteins:

  • FIBA_HUMAN
  • Q3KRA7_HUMAN
  • Q6NSD8_HUMAN
  • Q86Z09_HUMAN
  • Q8WW76_HUMAN
genes like me logo Genes that share paralogs with FGA: view

Variants for FGA Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations from dbSNP and Humsavar for FGA Gene

SNP ID Clin Chr 04 pos Variation AA Info Type
rs121909604 other, FIBRINOGEN LILLE 1 154,589,541(-) C/A/T coding_sequence_variant, missense_variant
rs121909605 other, FIBRINOGEN ROUEN 1 154,589,525(-) C/A coding_sequence_variant, missense_variant
rs121909606 pathogenic, Dysfibrinogenemia, Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004] 154,589,514(-) G/A coding_sequence_variant, missense_variant
rs121909607 pathogenic, Dysfibrinogenemia 154,589,513(-) C/T coding_sequence_variant, missense_variant
rs121909608 other, FIBRINOGEN AARHUS 1 154,589,505(-) T/C coding_sequence_variant, missense_variant

Structural Variations from Database of Genomic Variants (DGV) for FGA Gene

Variant ID Type Subtype PubMed ID
esv3304006 CNV mobile element insertion 20981092
esv3451661 CNV insertion 20981092

Variation tolerance for FGA Gene

Residual Variation Intolerance Score: 12.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.15; 61.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FGA Gene

Human Gene Mutation Database (HGMD)
FGA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FGA

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FGA Gene

Disorders for FGA Gene

MalaCards: The human disease database

(21) MalaCards diseases for FGA Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
dysfibrinogenemia, congenital
  • hypodysfibrinogenemia, congenital
afibrinogenemia, congenital
  • hypofibrinogenemia, congenital
amyloidosis, familial visceral
  • amyloidosis viii
dysfibrinogenemia
  • dysfibrinogenemia, congenital
afib amyloidosis
  • familial amyloid nephropathy due to fibrinogen a alpha-chain variant
- elite association - COSMIC cancer census association via MalaCards
Search FGA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FIBA_HUMAN
  • Congenital afibrinogenemia (CAFBN) [MIM:202400]: Rare autosomal recessive disorder is characterized by bleeding that varies from mild to severe and by complete absence or extremely low levels of plasma and platelet fibrinogen. {ECO:0000269 PubMed:25427968}. Note=The disease is caused by mutations affecting the gene represented in this entry. The majority of cases of afibrinogenemia are due to truncating mutations. Variations in position Arg-35 (the site of cleavage of fibrinopeptide a by thrombin) leads to alpha-dysfibrinogenemias.
  • Amyloidosis 8 (AMYL8) [MIM:105200]: A form of hereditary generalized amyloidosis. Clinical features include extensive visceral amyloid deposits, renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. There is no involvement of the nervous system. {ECO:0000269 PubMed:8097946}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dysfibrinogenemia, congenital (DYSFIBRIN) [MIM:616004]: A disorder characterized by qualitative abnormalities (dysfibrinogenemia) of the circulating fibrinogen. Affected individuals are frequently asymptomatic, but some patients have bleeding diathesis, thromboembolic complications, or both. In some cases, dysfibrinogenemia is associated with low circulating fibrinogen levels (hypodysfibrinogenemia). {ECO:0000269 PubMed:16846481, ECO:0000269 PubMed:8473507}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for FGA

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for FGA Gene

Publications for FGA Gene

  1. Fibrinogen beta variants confer protection against coronary artery disease in a Greek case-control study. (PMID: 20167083) Theodoraki EV … Dedoussis GV (BMC medical genetics 2010) 3 22 44 58
  2. Interaction between fibrinogen and IL-6 genetic variants and associations with cardiovascular disease risk in the Cardiovascular Health Study. (PMID: 20059469) Carty CL … Reiner AP (Annals of human genetics 2010) 3 22 44 58
  3. Variation in fibrinogen FGG and FGA genes and risk of stroke: the Rotterdam Study. (PMID: 18690352) Cheung EY … Breteler MM (Thrombosis and haemostasis 2008) 3 22 44 58
  4. Fibrinogen gene variation and ischemic stroke. (PMID: 18331453) Jood K … Jern C (Journal of thrombosis and haemostasis : JTH 2008) 3 22 44 58
  5. Fibrinogen gene haplotypes in relation to risk of coronary events and coronary and extracoronary atherosclerosis: the Rotterdam Study. (PMID: 17264959) Kardys I … de Maat MP (Thrombosis and haemostasis 2007) 3 22 44 58

Products for FGA Gene

  • Addgene plasmids for FGA

Sources for FGA Gene

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