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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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F13A1
coagulation factor XIII A chain
Chromosome 6 Β· 6p25.1
NCBI Gene: 2162Ensembl: ENSG00000124491.17HGNC: HGNC:3531UniProt: P00488
361PubMed Papers
21Diseases
1Drugs
50Pathogenic Variants
RESEARCH IMPACT
Highly StudiedTrending
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein-glutamine gamma-glutamyltransferase activityblood microparticleextracellular matrixpeptide cross-linkingFactor XIII subunit A deficiencyfactor XIII, A subunit, deficiency ofcongenital factor XIII deficiencythrombophilia due to thrombin defect
✦AI Summary

F13A1 encodes the A subunit of coagulation factor XIII (FXIII), a transglutaminase activated by thrombin and calcium that catalyzes gamma-glutamyl-epsilon-lysine cross-links between fibrin chains, mechanically stabilizing fibrin clots and protecting them from fibrinolysis 1. Beyond hemostasis, F13A1 cross-links alpha-2-plasmin inhibitor and fibronectin to fibrin, supporting wound healing and angiogenesis through VEGFR2 and integrin Ξ±VΞ²3 interactions 2. Recent studies reveal F13A1's immunomodulatory roles. F13A1-positive macrophages drive metabolic-associated steatohepatitis (MASH) progression via the PKM2/HIF1A pathway, with F13A1 directly interacting with pyruvate kinase M2 to promote pro-inflammatory phenotypes 3. In obesity, F13A1 expression increases in adipose tissue and associates with inflammatory pathways and tissue remodeling 4. F13A1+ macrophages are enriched in multiple primary lung cancers, exhibiting immunosuppressive characteristics that promote tumor growth 5. Clinically, severe F13A1 deficiency causes rare but severe hemorrhagic diathesis with delayed wound healing and recurrent pregnancy loss 1. The Val34Leu polymorphism associates with recurrent pregnancy loss, particularly in Asian populations 6. RUNX1 transcription factor regulates F13A1 expression in platelets and megakaryocytes; RUNX1 deficiency decreases F13A1 and impairs clot contraction 7.

Sources cited
1
F13A1 encodes FXIII-A subunit; activated by thrombin and Ca2+; cross-links fibrin and alpha-2 plasmin inhibitor; stabilizes fibrin and protects from fibrinolysis; severe deficiency causes hemorrhagic diathesis with delayed wound healing and recurrent abortion
PMID: 19598071
2
FXIII supports wound healing and angiogenesis through VEGFR2 and integrin Ξ±VΞ²3 interactions; promotes granulation tissue formation; incorporates macromolecules for cellular infiltration and cell migration
PMID: 26654441
3
F13A1-positive macrophages predominant in MASH livers; F13A1 directly interacts with PKM2 promoting its dimerization; F13A1/PKM2/HIF1A axis drives pro-inflammatory phenotype and IL-1Ξ² expression; enhances Warburg effect in macrophages
PMID: 41417477
4
F13A1 expression increases in adipose tissue with acquired excess weight; associates with pro-inflammatory, cell stress and tissue remodeling pathways; correlates with adipocyte size and inversely with adiponectin
PMID: 33221826
5
F13A1+ macrophage subtype enriched in multiple primary lung cancers; exhibits M2 macrophage markers; overexpresses SPP1-CD44/CCL13-ACKR1 interactions; creates immunosuppressive tumor microenvironment
PMID: 39601163
6
F13A1 Val34Leu polymorphism associates with recurrent pregnancy loss in Asian populations but not in Europeans or South Americans
PMID: 28683377
7
RUNX1 transcription factor regulates F13A1 expression in platelets and megakaryocytes; RUNX1 deficiency decreases F13A1 and impairs platelet-driven clot contraction and myosin light chain phosphorylation
PMID: 39995753
Disease Associationsβ“˜21
Factor XIII subunit A deficiencyOpen Targets
0.79Strong
factor XIII, A subunit, deficiency ofOpen Targets
0.73Strong
congenital factor XIII deficiencyOpen Targets
0.50Moderate
thrombophilia due to thrombin defectOpen Targets
0.48Moderate
hemorrhageOpen Targets
0.46Moderate
neurodegenerative diseaseOpen Targets
0.39Weak
inherited blood coagulation disorderOpen Targets
0.37Weak
placental retentionOpen Targets
0.34Weak
hyperpituitarismOpen Targets
0.32Weak
adolescent idiopathic scoliosisOpen Targets
0.30Weak
joint diseaseOpen Targets
0.30Weak
cystic kidney diseaseOpen Targets
0.27Weak
intracranial hemorrhageOpen Targets
0.27Weak
arthritisOpen Targets
0.26Weak
placenta praeviaOpen Targets
0.26Weak
neuroinflammatory disorderOpen Targets
0.26Weak
Loss of consciousnessOpen Targets
0.25Weak
brain diseaseOpen Targets
0.25Weak
response to antihypertensive drugOpen Targets
0.24Weak
genetic disorderOpen Targets
0.19Weak
Factor XIII subunit A deficiencyUniProt
Pathogenic Variants50
NM_000129.4(F13A1):c.27del (p.Phe9fs)Pathogenic
not provided|Factor XIII, A subunit, deficiency of
β˜…β˜…β˜†β˜†2025β†’ Residue 9
NM_000129.4(F13A1):c.691-1G>APathogenic
Factor XIII, A subunit, deficiency of|not provided|F13A1-related disorder|Nonpapillary renal cell carcinoma
β˜…β˜…β˜†β˜†2025
NM_000129.4(F13A1):c.1405_1408del (p.Gln469fs)Pathogenic
Factor XIII, A subunit, deficiency of|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 469
NM_000129.4(F13A1):c.1984C>T (p.Arg662Ter)Pathogenic
Factor XIII, A subunit, deficiency of|F13A1-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 662
NM_000129.4(F13A1):c.1226G>A (p.Arg409Gln)Likely pathogenic
not provided|Intracranial hemorrhage
β˜…β˜…β˜†β˜†2024β†’ Residue 409
NM_000129.4(F13A1):c.820G>C (p.Gly274Arg)Likely pathogenic
Factor XIII, A subunit, deficiency of
β˜…β˜…β˜†β˜†2024β†’ Residue 274
NM_000129.4(F13A1):c.980G>A (p.Arg327Gln)Pathogenic
Factor XIII, A subunit, deficiency of|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 327
NM_000129.4(F13A1):c.1757_1758del (p.Glu586fs)Likely pathogenic
Factor XIII, A subunit, deficiency of
β˜…β˜†β˜†β˜†2025β†’ Residue 586
NM_000129.4(F13A1):c.233G>A (p.Arg78His)Likely pathogenic
Factor XIII, A subunit, deficiency of
β˜…β˜†β˜†β˜†2025β†’ Residue 78
NM_000129.4(F13A1):c.59_60del (p.Asn19_Ser20insTer)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 19
NM_000129.4(F13A1):c.2110C>T (p.Arg704Trp)Likely pathogenic
Factor XIII, A subunit, deficiency of
β˜…β˜†β˜†β˜†2025β†’ Residue 704
NM_000129.4(F13A1):c.1064T>C (p.Leu355Pro)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 355
NM_000129.4(F13A1):c.2071C>T (p.Gln691Ter)Likely pathogenic
Factor XIII, A subunit, deficiency of
β˜…β˜†β˜†β˜†2024β†’ Residue 691
NM_000129.4(F13A1):c.782G>A (p.Arg261His)Pathogenic
Factor XIII, A subunit, deficiency of|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 261
NM_000129.4(F13A1):c.799-1G>ALikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_000129.4(F13A1):c.1326C>A (p.Tyr442Ter)Pathogenic
Factor XIII, A subunit, deficiency of|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 442
NM_000129.4(F13A1):c.631G>A (p.Gly211Arg)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 211
NM_000129.4(F13A1):c.2045G>A (p.Arg682His)Pathogenic
Factor XIII, A subunit, deficiency of|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 682
NM_000129.4(F13A1):c.603_606del (p.Arg202fs)Pathogenic
Factor XIII, A subunit, deficiency of|Thrombophilia due to thrombin defect;Myocardial infarction, susceptibility to;Factor XIII, A subunit, deficiency of
β˜…β˜†β˜†β˜†2024β†’ Residue 202
NM_000129.4(F13A1):c.523C>T (p.Arg175Ter)Pathogenic
Thrombophilia due to thrombin defect;Myocardial infarction, susceptibility to;Factor XIII, A subunit, deficiency of
β˜…β˜†β˜†β˜†2024β†’ Residue 175
View on ClinVar β†—
Drug Targets1
CATRIDECACOGApproved
Coagulation factor XIII exogenous protein
Related Genes
FN1Protein interaction100%F13BProtein interaction87%APLNRProtein interaction78%F2Protein interaction71%F12Protein interaction71%FGBProtein interaction58%
Tissue Expression6 tissues
Heart
100%
Lung
91%
Bone Marrow
54%
Ovary
25%
Brain
21%
Liver
3%
Gene Interaction Network
Click a node to explore
F13A1FN1F13BAPLNRF2F12FGB
PROTEIN STRUCTURE
Preparing viewer…
PDB4KTY Β· 1.98 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.73LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.58 [0.46–0.73]
RankingsWhere F13A1 stands among ~20K protein-coding genes
  • #853of 20,598
    Most Researched361 Β· top 5%
  • #767of 1,025
    FDA-Approved Drug Targets1
  • #1,322of 5,498
    Most Pathogenic Variants50 Β· top quartile
  • #5,715of 17,882
    Most Constrained (LOEUF)0.73
Genes detectedF13A1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
F13A1-Mediated Macrophage Activation Promotes MASH Progression via the PKM2/HIF1A Pathway.
PMID: 41417477
Adv Sci (Weinh) Β· 2026
1.00
2
Factor XIII Deficiency.
PMID: 19598071
Semin Thromb Hemost Β· 2009
0.90
3
Association of the F13A1 Val34Leu polymorphism and recurrent pregnancy loss: A meta-analysis.
PMID: 28683377
Eur J Obstet Gynecol Reprod Biol Β· 2017
0.80
4
Macrophages promote Fibrinogenesis during kidney injury.
PMID: 37425313
Front Med (Lausanne) Β· 2023
0.72
5
F13A1 transglutaminase expression in human adipose tissue increases in acquired excess weight and associates with inflammatory status of adipocytes.
PMID: 33221826
Int J Obes (Lond) Β· 2021
0.70