Skip to content
GenoLensGenoLens

F13B

Chr 1q31.3

coagulation factor XIII B chain

Aliases:
FXIIIB
MANE:
ENST00000367412.2

Annotations refreshed 9 hours ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Bleeding and platelet disorders

    BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
  • Factor XIII deficiency

    BIALLELIC, autosomal or pseudoautosomal
  • Inherited bleeding disorders

    BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Disease associations (Open Targets)

  • congenital factor XIII deficiency

    0.69
  • age-related macular degeneration

    0.43
  • macular degeneration

    0.35
  • coagulation protein disease

    0.34
  • factor XIII deficiency

    0.33
  • cholesteatoma

    0.33
  • hereditary disease

    0.19
  • psoriasis

    0.12
  • thrombotic disease

    0.12
  • retinal disorder

    0.08

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Coagulation factor XIII B chain

The B chain of factor XIII is not catalytically active, but is thought to stabilize the A subunits and regulate the rate of transglutaminase formation by thrombin

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.