FGA fibrinogen alpha chain [Homo sapiens (human)] - Gene

Summary

Official Symbol: FGAprovided by HGNC
Official Full Name: fibrinogen alpha chainprovided by HGNC
Primary source: HGNC:HGNC:3661
See related: Ensembl:ENSG00000171560 MIM:134820; AllianceGenome:HGNC:3661
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: Fib2; AMYLD2
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. 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]
Expression: Restricted expression toward liver (RPKM 2863.0) See more
Orthologs: mouse all
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Genomic context

Location:: 4q31.3

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (154583126..154590742, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (157914895..157922551, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (155504278..155511894, complement)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Fibrinogen Aalpha gene genotyping in patients with inherited afibrinogenemia deficiency; a novel mutation in Iranian afibrinogenemia patients.
Title: Fibrinogen Aα gene genotyping in patients with inherited afibrinogenemia deficiency; a novel mutation in Iranian afibrinogenemia patients.
[Genetic analysis of a Chinese pedigree affected with Congenital dysfibrinogenemia due to variant of FGG gene].
Title: [Genetic analysis of a Chinese pedigree affected with Congenital dysfibrinogenemia due to variant of FGG gene].
Two Novel Heterozygous Mutations (p.gammaPhe230Val and p.AalphaAsn839Thr) Cause Hereditary Hypodysfibrinogenemia in Two Chinese Independent Families.
Title: Two Novel Heterozygous Mutations (p.γPhe230Val and p.AαAsn839Thr) Cause Hereditary Hypodysfibrinogenemia in Two Chinese Independent Families.
Interaction Between Platelet and Fibrinogen on Clot Strength in Healthy Patients.
Title: Interaction Between Platelet and Fibrinogen on Clot Strength in Healthy Patients.
Fibrinogen-Aalpha THR312ALA Polymorphism is Associated to Chronic Thromboembolic Pulmonary Hypertension in Turkey.
Title: Fibrinogen-Aα THR312ALA Polymorphism is Associated to Chronic Thromboembolic Pulmonary Hypertension in Turkey.
FGA Controls VEGFA Secretion to Promote Angiogenesis by Activating the VEGFR2-FAK Signalling Pathway.
Title: FGA Controls VEGFA Secretion to Promote Angiogenesis by Activating the VEGFR2-FAK Signalling Pathway.
An association between fibrinogen gene polymorphisms and diabetic peripheral neuropathy in young patients with type 1 diabetes.
Title: An association between fibrinogen gene polymorphisms and diabetic peripheral neuropathy in young patients with type 1 diabetes.
Fibrinogen and Antifibrinolytic Proteins: Interactions and Future Therapeutics.
Title: Fibrinogen and Antifibrinolytic Proteins: Interactions and Future Therapeutics.
Protein Misfolding and Aggregation: The Relatedness between Parkinson's Disease and Hepatic Endoplasmic Reticulum Storage Disorders.
Title: Protein Misfolding and Aggregation: The Relatedness between Parkinson's Disease and Hepatic Endoplasmic Reticulum Storage Disorders.
Afibrinogenemia with two compound heterozygous mutations in FGA gene.
Title: Afibrinogenemia with two compound heterozygous mutations in FGA gene.

Submit: New GeneRIF Correction See all GeneRIFs (222)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Congenital afibrinogenemia MedGen: C2584774 OMIM: 202400 GeneReviews: Not available	Compare labs
Familial dysfibrinogenemia MedGen: C0272350 OMIM: 616004 GeneReviews: Not available	Compare labs
Familial visceral amyloidosis, Ostertag type MedGen: C0268389 OMIM: 105200 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Assessment of genetic determinants of the association of &#x003b3;' fibrinogen in relation to cardiovascular disease. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic predictors of fibrin D-dimer levels in healthy adults. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetics of venous thrombosis: insights from a new genome wide association study. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel loci, including those related to Crohn disease, psoriasis, and inflammation, identified in a genome-wide association study of fibrinogen in 17 686 women: the Women's Genome Health Study. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

GDB:374018 (e-PCR)
- UniSTS:156934

SHGC-59324 (e-PCR)
- UniSTS:74254

SHGC-32984 (e-PCR)
- UniSTS:49425

GDB:215015 (e-PCR)
- UniSTS:156198

GDB:633003 (e-PCR)
- UniSTS:158506

D4S2882 (e-PCR)
- UniSTS:10296

RH18276 (e-PCR)
- UniSTS:37702

G33492 (e-PCR)
- UniSTS:73328

STS-H72060 (e-PCR)
- UniSTS:42096

SHGC-34795 (e-PCR)
- UniSTS:78715

D4S3286 (e-PCR)
- UniSTS:1930

D4S3155 (e-PCR)
- UniSTS:60310

GDB:187393 (e-PCR)
- UniSTS:155550

NoName (e-PCR)
- UniSTS:484037

SHGC-50337 (e-PCR)
- UniSTS:65487

STS-H58121 (e-PCR)
- UniSTS:4838

SHGC-59770 (e-PCR)
- UniSTS:12018

FGA (e-PCR)
- UniSTS:240635

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
contributes_to cell adhesion molecule binding	IDA Inferred from Direct Assay more info	PubMed
enables extracellular matrix structural constituent	HDA more info	PubMed
enables extracellular matrix structural constituent	RCA inferred from Reviewed Computational Analysis more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein-macromolecule adaptor activity	IBA Inferred from Biological aspect of Ancestor more info
contributes_to signaling receptor binding	IDA Inferred from Direct Assay more info	PubMed
enables structural molecule activity	IDA Inferred from Direct Assay more info	PubMed
enables structural molecule activity	IMP Inferred from Mutant Phenotype more info	PubMed

Process	Evidence Code	Pubs
involved_in adaptive immune response	IEA Inferred from Electronic Annotation more info
involved_in blood coagulation, common pathway	IBA Inferred from Biological aspect of Ancestor more info
involved_in blood coagulation, common pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in blood coagulation, fibrin clot formation	IDA Inferred from Direct Assay more info	PubMed
involved_in cell-matrix adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in fibrinolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in fibrinolysis	IDA Inferred from Direct Assay more info	PubMed
involved_in induction of bacterial agglutination	IDA Inferred from Direct Assay more info	PubMed
involved_in innate immune response	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of blood coagulation, common pathway	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of endothelial cell apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of extrinsic apoptotic signaling pathway via death domain receptors	IDA Inferred from Direct Assay more info	PubMed
involved_in plasminogen activation	IDA Inferred from Direct Assay more info	PubMed
involved_in platelet aggregation	HMP more info	PubMed
involved_in platelet aggregation	IBA Inferred from Biological aspect of Ancestor more info
involved_in platelet aggregation	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of ERK1 and ERK2 cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of exocytosis	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of heterotypic cell-cell adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in positive regulation of heterotypic cell-cell adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of peptide hormone secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of protein secretion	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of substrate adhesion-dependent cell spreading	NAS Non-traceable Author Statement more info	PubMed
involved_in positive regulation of vasoconstriction	IDA Inferred from Direct Assay more info	PubMed
involved_in protein polymerization	IDA Inferred from Direct Assay more info	PubMed
involved_in protein-containing complex assembly	IDA Inferred from Direct Assay more info	PubMed
involved_in protein-containing complex assembly	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to calcium ion	IDA Inferred from Direct Assay more info	PubMed

Component	Evidence Code	Pubs
located_in blood microparticle	HDA more info	PubMed
located_in cell surface	IDA Inferred from Direct Assay more info	PubMed
located_in collagen-containing extracellular matrix	HDA more info	PubMed
located_in endoplasmic reticulum	IDA Inferred from Direct Assay more info
located_in endoplasmic reticulum lumen	TAS Traceable Author Statement more info
located_in external side of plasma membrane	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular exosome	HDA more info	PubMed
located_in extracellular region	NAS Non-traceable Author Statement more info	PubMed
located_in extracellular region	TAS Traceable Author Statement more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
located_in extracellular vesicle	HDA more info	PubMed
part_of fibrinogen complex	IBA Inferred from Biological aspect of Ancestor more info
part_of fibrinogen complex	IDA Inferred from Direct Assay more info	PubMed
located_in plasma membrane	TAS Traceable Author Statement more info
located_in platelet alpha granule	IDA Inferred from Direct Assay more info	PubMed
located_in platelet alpha granule lumen	TAS Traceable Author Statement more info

General protein information

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Preferred Names: fibrinogen alpha chain

Names: fibrinogen, A alpha polypeptide

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_008832.1 RefSeqGene

Range

5001..12618

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_557

mRNA and Protein(s)

NM_000508.5 → NP_000499.1 fibrinogen alpha chain isoform alpha-E preproprotein

See identical proteins and their annotated locations for NP_000499.1

Status: REVIEWED

Description

Transcript Variant: This variant (alpha-E) represents the longer transcript and encodes the longer isoform (alpha-E).

Source sequence(s)

AC107385, AF090936, BG565064, BQ064506, BX494953

Consensus CDS

CCDS3787.1

UniProtKB/Swiss-Prot

A8K3E4, D3DP14, D3DP15, P02671, Q4QQH7, Q9BX62, Q9UCH2

Related

ENSP00000498441.1, ENST00000651975.2

Conserved Domains (3) summary

cd00087
Location:630 → 863

FReD; Fibrinogen-related domains (FReDs); C terminal globular domain of fibrinogen. Fibrinogen is involved in blood clotting, being activated by thrombin to assemble into fibrin clots. The N-termini of 2 times 3 chains come together to form a globular ...

pfam08702
Location:50 → 187

Fib_alpha; Fibrinogen alpha/beta chain family

pfam12160
Location:445 → 509

Fibrinogen_aC; Fibrinogen alpha C domain
NM_021871.4 → NP_068657.1 fibrinogen alpha chain isoform alpha precursor

See identical proteins and their annotated locations for NP_068657.1

Status: REVIEWED

Description

Transcript Variant: This variant (alpha) is alternatively spliced in the 3' coding region and 3' UTR, resulting in a shorter isoform (alpha) with a different carboxy-terminus compared to isoform alpha-E. The encoded isoform (alpha) may undergo proteolytic processing similar to isoform alpha-E.

Source sequence(s)

AL531808, AL579998, BX494953, CB122305, CD608675, J00127, J00128

Consensus CDS

CCDS47152.1

UniProtKB/Swiss-Prot

P02671

Related

ENSP00000385981.3, ENST00000403106.8

Conserved Domains (2) summary

pfam08702
Location:50 → 187

Fib_alpha; Fibrinogen alpha/beta chain family

pfam12160
Location:445 → 509

Fibrinogen_aC; Fibrinogen alpha C domain