F13B (coagulation factor XIII B chain)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2165
Gene name Gene Name - the full gene name approved by the HGNC.
Coagulation factor XIII B chain
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
F13B
Synonyms (NCBI Gene) Gene synonyms aliases
FXIIIB
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q31.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
134580 3534 ENSG00000143278
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Congenital Factor XIII Deficiency factor XIII, b subunit, deficiency of N/A N/A GenCC
Hereditary Factor XIII Deficiency Hereditary factor XIII deficiency disease N/A N/A ClinVar
Show/Hide Text Mining Associations (18)
Associations from Text Mining Disease 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