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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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F13B
coagulation factor XIII B chain
Chromosome 1 · 1q31.3
NCBI Gene: 2165Ensembl: ENSG00000143278.6HGNC: HGNC:3534UniProt: P05160
79PubMed Papers
1Diseases
0Drugs
16Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
blood coagulation, fibrin clot formationblood coagulationextracellular regionGO:0005615Factor XIII subunit B deficiency
✦AI Summary

F13B encodes the B chain of coagulation factor XIII, a non-catalytic subunit that stabilizes the catalytically active A subunits and regulates transglutaminase formation by thrombin 1. The tetrameric FXIII-A₂B₂ zymogen is converted to active FXIIIa, which cross-links fibrin chains and alpha-2 plasmin inhibitor to mechanically stabilize fibrin clots and protect them from fibrinolysis 1. While F13A deficiency causes severe hemorrhagic diathesis with characteristic delayed umbilical stump bleeding, impaired wound healing, and spontaneous abortion, F13B subunit deficiency results in milder bleeding symptoms 1. Beyond hemostasis, F13B variants associate with age-related macular degeneration at the CFH-to-F13B locus, where homozygous risk genotypes correlate with elevated terminal complement complex levels in ocular tissue 2. Recent evidence suggests F13B functions in cancer progression; in hepatocellular carcinoma, reduced F13B expression promotes cell invasion and migration, while F13B overexpression inhibits angiogenesis through the HIF-1α/VEGF pathway 3. F13B also appears involved in pregnancy maintenance, with specific SNP variants influencing recurrent pregnancy loss risk 4. Diagnosis of F13 deficiency requires quantitative activity assays and antigen measurement, as mutations are heterogeneous without hot-spot regions 1.

Sources cited
1
F13B is the non-catalytic B subunit that stabilizes A subunits and regulates transglutaminase formation; severe FXIII-A deficiency causes hemorrhagic diathesis while rare B subunit deficiency causes milder symptoms; FXIIIa cross-links fibrin and protects from fibrinolysis
PMID: 19598071
2
F13B variants at the CFH-to-F13B locus on chromosome 1 associate with age-related macular degeneration; homozygous risk genotypes correlate with elevated terminal complement complex and C-reactive protein in ocular tissue, especially with smoking
PMID: 26218915
3
F13B is reduced in hepatocellular carcinoma; overexpression inhibits cell invasion, migration, and proliferation; F13B negatively regulates VEGFA and HIF1A, suppressing angiogenesis through the HIF-1α/VEGF/AKT/mTOR pathway
PMID: 39319846
4
F13B rs6003 SNP variant associates with altered risk for early pregnancy loss and recurrent pregnancy loss in multivariate analysis with epigenetic and inflammatory factors
PMID: 38332006
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ1
Factor XIII subunit B deficiencyUniProt
Pathogenic Variants16
NM_001994.3(F13B):c.299_300insAAC (p.Tyr100Ter)Pathogenic
Coagulation factor deficiency syndrome|Factor XIII, b subunit, deficiency of|not provided
★★☆☆2023→ Residue 100
NM_001994.3(F13B):c.10A>T (p.Lys4Ter)Pathogenic
Factor XIII, b subunit, deficiency of
★☆☆☆2025→ Residue 4
NM_001994.3(F13B):c.302T>A (p.Ile101Asn)Likely pathogenic
not provided
★☆☆☆2024→ Residue 101
NM_001994.3(F13B):c.1731_1735del (p.Leu577fs)Pathogenic
Factor XIII, b subunit, deficiency of
★☆☆☆2024→ Residue 577
NM_001994.3(F13B):c.91G>T (p.Glu31Ter)Likely pathogenic
Susceptibility to severe COVID-19
★☆☆☆2024→ Residue 31
NM_001994.3(F13B):c.647T>A (p.Leu216Ter)Likely pathogenic
Factor XIII, b subunit, deficiency of
★☆☆☆2024→ Residue 216
NM_001994.3(F13B):c.162dup (p.Leu55fs)Pathogenic
not provided
★☆☆☆2023→ Residue 55
NM_001994.3(F13B):c.1053dup (p.Lys352Ter)Likely pathogenic
F13B-related disorder
★☆☆☆2022→ Residue 352
NM_001994.3(F13B):c.805+1G>ALikely pathogenic
Factor XIII, b subunit, deficiency of|Factor XIII deficiency
★☆☆☆2021
NM_001994.3(F13B):c.565G>T (p.Gly189Ter)Pathogenic
Factor XIII, b subunit, deficiency of
★☆☆☆2021→ Residue 189
NM_001994.3(F13B):c.1152_1155dup (p.Pro386fs)Pathogenic
Factor XIII, b subunit, deficiency of
★☆☆☆2020→ Residue 386
NM_001994.3(F13B):c.1317C>A (p.Cys439Ter)Likely pathogenic
Factor XIII, b subunit, deficiency of
★☆☆☆→ Residue 439
NM_001994.3(F13B):c.1498del (p.Glu500fs)Pathogenic
Factor XIII, b subunit, deficiency of
☆☆☆☆2001→ Residue 500
NM_001994.3(F13B):c.65-2delPathogenic
Factor XIII, b subunit, deficiency of
☆☆☆☆2001
NM_001994.3(F13B):c.1349G>T (p.Cys450Phe)Pathogenic
Factor XIII, b subunit, deficiency of
☆☆☆☆1993→ Residue 450
NM_001994.3(F13B):c.1505C>G (p.Ser502Cys)Pathogenic
Cholesteatoma
☆☆☆☆→ Residue 502
View on ClinVar ↗
Related Genes
F13A1Protein interaction87%HRGProtein interaction87%SERPINC1Protein interaction82%F2Protein interaction82%F10Protein interaction82%HGDProtein interaction80%
Tissue Expression

No tissue expression data available for this gene.

Gene Interaction Network
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F13BF13A1HRGSERPINC1F2F10HGD
PROTEIN STRUCTURE
Preparing viewer…
PDB8CMU · 2.41 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.89LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.70 [0.56–0.89]
RankingsWhere F13B stands among ~20K protein-coding genes
  • #5,991of 20,598
    Most Researched79
  • #2,406of 5,498
    Most Pathogenic Variants16
  • #8,012of 17,882
    Most Constrained (LOEUF)0.89
Genes detectedF13B
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Factor XIII Deficiency.
PMID: 19598071
Semin Thromb Hemost · 2009
1.00
2
Uncovering novel protein pathways regulating bioavailable testosterone through sex hormone-binding globulin.
PMID: 41161126
Comput Biol Chem · 2026
0.90
3
Three-dimensional genome architecture in intrahepatic cholangiocarcinoma.
PMID: 39831920
Cell Oncol (Dordr) · 2025
0.80
4
PMID: 39319846
Biomol Biomed · 2024
0.70
5
Alu retrotransposons and COVID-19 susceptibility and morbidity.
PMID: 33390179
Hum Genomics · 2021
0.60