F13B (coagulation factor XIII B chain)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 2165
Gene name Coagulation factor XIII B chain
Gene symbol F13B
Synonyms (NCBI Gene)
FXIIIB
Chromosome 1
Chromosome location 1q31.3
Summary This gene encodes coagulation factor XIII B 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 ca
SNPs SNP information provided by dbSNP.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
SNP ID Visualize variation Clinical significance Consequence
rs6003 C>T Benign, risk-factor Coding sequence variant, missense variant
rs121913075 C>A Pathogenic Missense variant, coding sequence variant
rs779048554 ->GTT Pathogenic Coding sequence variant, stop gained
rs797044453 C>- Pathogenic Coding sequence variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
4
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
miRTarBase ID miRNA Experiments Reference
MIRT018864 hsa-miR-335-5p Microarray 18185580
MIRT023000 hsa-miR-124-3p Microarray 18668037
MIRT030013 hsa-miR-26b-5p Microarray 19088304
MIRT1988676 hsa-miR-4671-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
10
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (10)
GO ID Ontology Definition Evidence Reference
GO:0005576 Component Extracellular region IEA
GO:0005576 Component Extracellular region NAS 14718574
GO:0005576 Component Extracellular region TAS
GO:0005615 Component Extracellular space NAS 12524220
GO:0007596 Process Blood coagulation IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
134580 3534 ENSG00000143278
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P05160
Protein name Coagulation factor XIII B chain (Fibrin-stabilizing factor B subunit) (Protein-glutamine gamma-glutamyltransferase B chain) (Transglutaminase B chain)
Protein function 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.
PDB 8CMT , 8CMU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00084 Sushi 25 → 87 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 91 → 146 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 153 → 208 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 213 → 267 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 274 → 327 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 336 → 389 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 396 → 450 Sushi repeat (SCR repeat) Domain
PF00084 Sushi 524 → 578 Sushi repeat (SCR repeat) Domain
Sequence
Sequence length 661
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Complement and coagulation cascades
Coronavirus disease - COVID-19 		  Common Pathway of Fibrin Clot Formation
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
78
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (5)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cholesteatoma Pathogenic rs928709083 RCV002292665
Coagulation factor deficiency syndrome Pathogenic rs779048554 RCV000851768
F13B-related disorder Likely pathogenic rs2527146722 RCV003421105
Factor XIII deficiency Likely pathogenic rs550859190 RCV004794546
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Hereditary factor XIII deficiency disease Conflicting classifications of pathogenicity rs5991 RCV001270109
Thrombus Uncertain significance rs779125550 RCV003313876
Venous thrombosis, susceptibility to Benign rs6003 RCV000017984
Show/Hide Text Mining Associations (18)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abdominal Injuries Associate 30446716
Alzheimer Disease Stimulate 34531462
Aortic Aneurysm Abdominal Associate 25384012
Blood Coagulation Disorders Associate 26159793, 36471393, 36944974
Cerebral Infarction Associate 26159793
Cholangiocarcinoma Associate 39831920
Coronary Artery Disease Associate 25569091
Embolic Stroke Associate 26159793
Factor XIII Deficiency Associate 31340840
Heart Failure Associate 17515963