F13A1 Gene

HGNC Family	Transglutaminases (TGM)
Name	coagulation factor XIII, A1 polypeptide
Description	This gene encodes the coagulation factor XIII A subunit. Coagulation factor XIII is the last zymogen to become activated in the blood coagulation cascade. Plasma factor XIII is a heterotetramer composed of 2 A subunits and 2 B subunits. The A subunits have catalytic function, and the B subunits do not have enzymatic activity and may serve as plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. It also crosslinks alpha-2-plasmin inhibitor, or fibronectin, to the alpha chains of fibrin. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n Coagulation factor XIII A subunit (F13A1) encodes the catalytic component of plasma factor XIII, a transglutaminase that plays a critical role in the final stages of coagulation by cross‐linking fibrin monomers to generate mechanically stable clots that resist fibrinolysis. In addition to its well‐established function in clot stabilization and wound healing, emerging evidence indicates that F13A1 activity modulates inflammatory processes and influences vascular outcomes. Genetic studies have revealed that specific F13A1 variants—such as the Tyr204Phe and Val34Leu alleles—are strongly associated with altered enzyme activity and differences in fibrin network structure, thereby contributing to increased risks of ischemic stroke, myocardial infarction, and even complications such as priapism in susceptible individuals."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": " Conversely, deleterious mutations in F13A1 can result in severe or mild factor XIII deficiency, leading to bleeding diatheses that underscore the subunit’s indispensable role in hemostasis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "5", "end_ref": "8"}]}, {"type": "t", "text": " Moreover, F13A1 has been implicated in modulating clot characteristics that may affect thrombus composition and stability in venous thromboembolism, and its expression has even been linked with inflammatory and immune responses in conditions such as asthma."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "9", "end_ref": "11"}]}, {"type": "t", "text": " Collectively, these studies demonstrate that F13A1 is not only essential for executing the final cross-linking step in coagulation but also that genetic variations and mutations in this gene have broad clinical implications, influencing both bleeding risk and thrombotic or inflammatory pathologies.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Frances M K Williams, Angela M Carter, Pirro G Hysi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ischemic stroke is associated with the ABO locus: the EuroCLOT study."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Neurol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ana.23838"}], "href": "https://doi.org/10.1002/ana.23838"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23381943"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23381943"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "D Martijn O Pruissen, Arjen J C Slooter, Frits R Rosendaal, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Coagulation factor XIII gene variation, oral contraceptives, and risk of ischemic stroke."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Blood (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1182/blood-2007-08-110254"}], "href": "https://doi.org/10.1182/blood-2007-08-110254"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18006701"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18006701"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Berthold Hoppe, Thomas Häupl, Alla Skapenko, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Fibrinogen and factor XIII A-subunit genotypes interactively influence C-reactive protein levels during inflammation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Rheum Dis (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/annrheumdis-2011-200738"}], "href": "https://doi.org/10.1136/annrheumdis-2011-200738"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22267327"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22267327"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "M N Mannila, P Eriksson, K Leander, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The association between fibrinogen haplotypes and myocardial infarction in men is partly mediated through pleiotropic effects on the serum IL-6 concentration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Intern Med (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/j.1365-2796.2006.01749.x"}], "href": "https://doi.org/10.1111/j.1365-2796.2006.01749.x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17241179"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17241179"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "A Biswas, V Ivaskevicius, A Thomas, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Coagulation factor XIII deficiency. Diagnosis, prevalence and management of inherited and acquired forms."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hamostaseologie (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.5482/HAMO-13-08-0046"}], "href": "https://doi.org/10.5482/HAMO-13-08-0046"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24503678"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24503678"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Vytautas Ivaskevicius, Arijit Biswas, Carville Bevans, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and function."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Haematologica (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3324/haematol.2009.017210"}], "href": "https://doi.org/10.3324/haematol.2009.017210"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20179087"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20179087"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Arijit Biswas, Vytautas Ivaskevicius, Anne Thomas, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Eight novel F13A1 gene missense mutations in patients with mild FXIII deficiency: in silico analysis suggests changes in FXIII-A subunit structure/function."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Ann Hematol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00277-014-2102-4"}], "href": "https://doi.org/10.1007/s00277-014-2102-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24889649"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24889649"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Noora S Alakulppi, Lauri E Kyllönen, Jukka Partanen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Lack of association between thrombosis-associated and cytokine candidate gene polymorphisms and acute rejection or vascular complications after kidney transplantation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nephrol Dial Transplant (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/ndt/gfm528"}], "href": "https://doi.org/10.1093/ndt/gfm528"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17704111"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17704111"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Sunita Sharma, Xiaobo Zhou, Derek M Thibault, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A genome-wide survey of CD4(+) lymphocyte regulatory genetic variants identifies novel asthma genes."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Allergy Clin Immunol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.jaci.2014.04.011"}], "href": "https://doi.org/10.1016/j.jaci.2014.04.011"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24934276"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24934276"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Laura Martin-Fernandez, Pascual Marco, Irene Corrales, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The Unravelling of the Genetic Architecture of Plasminogen Deficiency and its Relation to Thrombotic Disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/srep39255"}], "href": "https://doi.org/10.1038/srep39255"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27976734"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27976734"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Alisa S Wolberg "}, {"type": "b", "children": [{"type": "t", "text": "Fibrinogen and factor XIII: newly recognized roles in venous thrombus formation and composition."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Curr Opin Hematol (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1097/MOH.0000000000000445"}], "href": "https://doi.org/10.1097/MOH.0000000000000445"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29994896"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29994896"}]}]}]}
Synonyms	F13A
Proteins	F13A_HUMAN
NCBI Gene ID	2162
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

F13A1 has 9,058 functional associations with biological entities spanning 9 categories (molecular profile, organism, functional term, phrase or reference, chemical, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 126 datasets.

Click the + buttons to view associations for F13A1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

F13A1 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of F13A1 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of F13A1 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of F13A1 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of F13A1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of F13A1 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of F13A1 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	Biocarta Pathways	pathways involving F13A1 protein from the Biocarta Pathways dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of F13A1 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of F13A1 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of F13A1 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of F13A1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of F13A1 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of F13A1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Proteomics	Cell lines associated with F13A1 protein from the CCLE Cell Line Proteomics dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with F13A1 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of F13A1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of F13A1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of F13A1 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with F13A1 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with F13A1 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of F13A1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing F13A1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing F13A1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Experimental Protein Localization Evidence Scores 2025	cellular components containing F13A1 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with F13A1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with F13A1 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of F13A1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with F13A1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with F13A1 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with F13A1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with F13A1 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DeepCoverMOA Drug Mechanisms of Action	small molecule perturbations with high or low expression of F13A1 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by F13A1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving F13A1 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with F13A1 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with F13A1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with F13A1 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with F13A1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with F13A1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	DrugBank Drug Targets	interacting drugs for F13A1 protein from the curated DrugBank Drug Targets dataset.