FGG fibrinogen gamma chain [Homo sapiens (human)] - Gene

Summary

Official Symbol: FGGprovided by HGNC
Official Full Name: fibrinogen gamma chainprovided by HGNC
Primary source: HGNC:HGNC:3694
See related: Ensembl:ENSG00000171557 MIM:134850; AllianceGenome:HGNC:3694
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
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 abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia and thrombophilia. Alternative splicing results in transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Expression: Restricted expression toward liver (RPKM 3614.5) See more
Orthologs: mouse all
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Genomic context

Location:: 4q32.1

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (154604136..154612656, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (157935943..157944463, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (155525288..155533808, 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?

A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family.
Title: A novel mutation in the FGG gene causes hypofibrinogenemia in a Chinese family.
A novel missense mutation (FGG c.1168G > T) in the gamma chain of fibrinogen causing congenital hypodysfibrinogenemia with bleeding phenotype.
Title: A novel missense mutation (FGG c.1168G > T) in the gamma chain of fibrinogen causing congenital hypodysfibrinogenemia with bleeding phenotype.
[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.
Genome-wide association analyses identified novel susceptibility loci for pulmonary embolism among Han Chinese population.
Title: Genome-wide association analyses identified novel susceptibility loci for pulmonary embolism among Han Chinese population.
Plasma proteomics analysis of adolescent idiopathic scoliosis patients revealed by Quadrupole-Orbitrap mass spectrometry.
Title: Plasma proteomics analysis of adolescent idiopathic scoliosis patients revealed by Quadrupole-Orbitrap mass spectrometry.
Sensitivity analysis of a reduced model of thrombosis under flow: Roles of Factor IX, Factor XI, and gamma'-Fibrin.
Title: Sensitivity analysis of a reduced model of thrombosis under flow: Roles of Factor IX, Factor XI, and γ'-Fibrin.
Changes and significance of plasma fibrinogen gamma-chain concentration in preeclampsia patients.
Title: Changes and significance of plasma fibrinogen gamma-chain concentration in preeclampsia patients.
High fibrinogen gamma' levels in patient plasma increase clot formation at arterial and venous shear.
Title: High fibrinogen γ' levels in patient plasma increase clot formation at arterial and venous shear.
Novel variant fibrinogen gammap.C352R produced hypodysfibrinogenemia leading to a bleeding episode and failure of infertility treatment.
Title: Novel variant fibrinogen γp.C352R produced hypodysfibrinogenemia leading to a bleeding episode and failure of infertility treatment.

Submit: New GeneRIF Correction See all GeneRIFs (181)

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

EBI GWAS Catalog

Description
A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. EBI GWAS Catalog EBI GWAS CatalogPubMed
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

SHGC-59771 (e-PCR)
- UniSTS:77612

FGG (e-PCR), detects polymorphism
- UniSTS:266088

SHGC-59537 (e-PCR)
- UniSTS:2797

SGC35532 (e-PCR)
- UniSTS:10477

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables cell adhesion molecule binding	IPI Inferred from Physical Interaction 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 identical protein binding	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables signaling receptor binding	IBA Inferred from Biological aspect of Ancestor more info
enables signaling receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables structural molecule activity	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in blood coagulation, fibrin clot formation	IDA Inferred from Direct Assay more info	PubMed
involved_in blood coagulation, fibrin clot formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cell-matrix adhesion	IBA Inferred from Biological aspect of Ancestor more info
involved_in cell-matrix adhesion	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to interleukin-1	IEA Inferred from Electronic Annotation more info
involved_in cellular response to interleukin-6	IEA Inferred from Electronic Annotation more info
involved_in fibrinolysis	IDA Inferred from Direct Assay 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	IBA Inferred from Biological aspect of Ancestor more info
involved_in platelet aggregation	IDA Inferred from Direct Assay more info	PubMed
involved_in platelet maturation	IEA Inferred from Electronic Annotation more info
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	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	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein secretion	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in protein-containing complex assembly	IDA Inferred from Direct Assay 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
is_active_in collagen-containing extracellular matrix	IBA Inferred from Biological aspect of Ancestor 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	TAS Traceable Author Statement more info
located_in extracellular space	HDA more info	PubMed
is_active_in extracellular space	IBA Inferred from Biological aspect of Ancestor more info
located_in extracellular space	IDA Inferred from Direct Assay more info	PubMed
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 gamma chain

Names: fibrinogen, gamma polypeptide; testicular tissue protein Li 70

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_008834.1 RefSeqGene

Range

5095..13615

Download

GenBank, FASTA, Sequence Viewer (Graphics), LRG_585

mRNA and Protein(s)

NM_000509.6 → NP_000500.2 fibrinogen gamma chain isoform gamma-A precursor

See identical proteins and their annotated locations for NP_000500.2

Status: REVIEWED

Description

Transcript Variant: This variant (gamma-A) is the predominant transcript and is shorter than variant gamma-B. Variant gamma-A encodes isoform gamma-A, which is shorter and has a distinct C-terminus compared to isoform gamma-B.

Source sequence(s)

AW014527, BC021674, BX382942

Consensus CDS

CCDS47153.1

UniProtKB/TrEMBL

A0A140VJJ6, C9JEU5

Related

ENSP00000384860.3, ENST00000404648.7

Conserved Domains (2) summary

cl00085
Location:175 → 414

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:31 → 172

Fib_alpha; Fibrinogen alpha/beta chain family
NM_021870.3 → NP_068656.2 fibrinogen gamma chain isoform gamma-B precursor

See identical proteins and their annotated locations for NP_068656.2

Status: REVIEWED

Description

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

Source sequence(s)

AC107385, AI808530, AL531173, BC007044, BG567044

Consensus CDS

CCDS3788.1

UniProtKB/Swiss-Prot

A8K057, P02679, P04469, P04470, Q53Y18, Q96A14, Q96KJ3, Q9UC62, Q9UC63, Q9UCF3

UniProtKB/TrEMBL

C9JC84

Related

ENSP00000336829.3, ENST00000336098.8

Conserved Domains (2) summary

pfam08702
Location:31 → 172

Fib_alpha; Fibrinogen alpha/beta chain family

cl00085
Location:175 → 414

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 ...