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Aliases for F13B Gene

Aliases for F13B Gene

  • Coagulation Factor XIII B Chain 2 3
  • Coagulation Factor XIII, B Polypeptide 2 3 5
  • Protein-Glutamine Gamma-Glutamyltransferase B Chain 3 4
  • Fibrin-Stabilizing Factor B Subunit 3 4
  • Transglutaminase B Chain 3 4
  • FXIIIB 3
  • TGase 3

External Ids for F13B Gene

Previous GeneCards Identifiers for F13B Gene

  • GC01M194735
  • GC01M192466
  • GC01M193474
  • GC01M194296
  • GC01M193739
  • GC01M195274
  • GC01M168165

Summaries for F13B Gene

Entrez Gene Summary for F13B 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 catalytic function, and the B subunits do not have enzymatic activity and may serve as a plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of plasma origin. Upon activation by the cleavage of the activation peptide by thrombin and in the presence of calcium ion, the plasma factor XIII dissociates its B subunits and yields the same active enzyme, factor XIIIa, as platelet factor XIII. This enzyme acts as a transglutaminase to catalyze the formation of gamma-glutamyl-epsilon-lysine crosslinking between fibrin molecules, thus stabilizing the fibrin clot. Factor XIII deficiency is classified into two categories: type I deficiency, characterized by the lack of both the A and B subunits; and type II deficiency, characterized by the lack of the A subunit alone. These defects can result in a lifelong bleeding tendency, defective wound healing, and habitual abortion. [provided by RefSeq, Jul 2008]

GeneCards Summary for F13B Gene

F13B (Coagulation Factor XIII B Chain) is a Protein Coding gene. Diseases associated with F13B include factor xiiib deficiency and factor xiii deficiency. Among its related pathways are Platelet activation, signaling and aggregation and Formation of Fibrin Clot (Clotting Cascade). An important paralog of this gene is ENSG00000276911.

UniProtKB/Swiss-Prot for F13B Gene

  • 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.

Gene Wiki entry for F13B Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for F13B Gene

Genomics for F13B Gene

Regulatory Elements for F13B Gene

Genomic Location for F13B Gene

Chromosome:
1
Start:
197,039,191 bp from pter
End:
197,067,267 bp from pter
Size:
28,077 bases
Orientation:
Minus strand

Genomic View for F13B Gene

Genes around F13B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
F13B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for F13B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for F13B Gene

Proteins for F13B Gene

  • Protein details for F13B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P05160-F13B_HUMAN
    Recommended name:
    Coagulation factor XIII B chain
    Protein Accession:
    P05160
    Secondary Accessions:
    • A8K3E5
    • Q5VYL5

    Protein attributes for F13B Gene

    Size:
    661 amino acids
    Molecular mass:
    75511 Da
    Quaternary structure:
    • Tetramer of two A chains (F13A1) and two B (F13B) chains.

neXtProt entry for F13B Gene

Proteomics data for F13B Gene at MOPED

Post-translational modifications for F13B Gene

  • Glycosylation at Asn 162 and Asn 545
  • Modification sites at PhosphoSitePlus

Other Protein References for F13B Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for F13B Gene

Domains & Families for F13B Gene

Gene Families for F13B Gene

Protein Domains for F13B Gene

Suggested Antigen Peptide Sequences for F13B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P05160

UniProtKB/Swiss-Prot:

F13B_HUMAN :
  • Contains 10 Sushi (CCP/SCR) domains.
Domain:
  • Contains 10 Sushi (CCP/SCR) domains.
genes like me logo Genes that share domains with F13B: view

Function for F13B Gene

Molecular function for F13B Gene

GENATLAS Biochemistry:
coagulation factor XIII,B polypeptide,non catalytic (80kDa)
UniProtKB/Swiss-Prot 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.
genes like me logo Genes that share phenotypes with F13B: view

Human Phenotype Ontology for F13B Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for F13B Gene

MGI Knock Outs for F13B:

Animal Model Products

miRNA for F13B Gene

miRTarBase miRNAs that target F13B

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Transcription Factor Targets and HOMER Transcription for F13B Gene

Localization for F13B Gene

Subcellular locations from UniProtKB/Swiss-Prot for F13B Gene

Secreted.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for F13B Gene COMPARTMENTS Subcellular localization image for F13B gene
Compartment Confidence
extracellular 5
cytosol 1
peroxisome 1

No data available for Gene Ontology (GO) - Cellular Components for F13B Gene

Pathways & Interactions for F13B Gene

genes like me logo Genes that share pathways with F13B: view

Gene Ontology (GO) - Biological Process for F13B Gene

None

No data available for SIGNOR curated interactions for F13B Gene

Drugs & Compounds for F13B Gene

No Compound Related Data Available

Transcripts for F13B Gene

mRNA/cDNA for F13B Gene

(5) REFSEQ mRNAs :
(2) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for F13B Gene

Coagulation factor XIII, B polypeptide:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for F13B Gene

No ASD Table

Relevant External Links for F13B Gene

GeneLoc Exon Structure for
F13B
ECgene alternative splicing isoforms for
F13B

Expression for F13B Gene

mRNA expression in normal human tissues for F13B Gene

mRNA differential expression in normal tissues according to GTEx for F13B Gene

This gene is overexpressed in Liver (x52.3).

Protein differential expression in normal tissues from HIPED for F13B Gene

This gene is overexpressed in Serum (38.2), Plasma (18.2), and Synovial fluid (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for F13B Gene



SOURCE GeneReport for Unigene cluster for F13B Gene Hs.435782

genes like me logo Genes that share expression patterns with F13B: view

Protein tissue co-expression partners for F13B Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for F13B Gene

Orthologs for F13B Gene

This gene was present in the common ancestor of chordates.

Orthologs for F13B Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia F13B 35
  • 81.59 (n)
  • 75.04 (a)
F13B 36
  • 75 (a)
OneToOne
dog
(Canis familiaris)
Mammalia F13B 35
  • 87.62 (n)
  • 82.66 (a)
F13B 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia F13b 35
  • 80.74 (n)
  • 77.31 (a)
F13b 16
F13b 36
  • 76 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia F13B 35
  • 99.55 (n)
  • 99.55 (a)
F13B 36
  • 100 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia F13B 36
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia F13B 36
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves F13B 35
  • 61.42 (n)
  • 49.51 (a)
F13B 36
  • 47 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia F13B 36
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii f13b 36
  • 26 (a)
ManyToMany
Species with no ortholog for F13B:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for F13B Gene

ENSEMBL:
Gene Tree for F13B (if available)
TreeFam:
Gene Tree for F13B (if available)

Paralogs for F13B Gene

genes like me logo Genes that share paralogs with F13B: view

Variants for F13B Gene

Sequence variations from dbSNP and Humsavar for F13B Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
VAR_007475 Factor XIII subunit B deficiency (FA13BD)
rs6002 - 197,062,977(-) TTCCA(A/G)TGAGC reference, missense
rs6003 - 197,061,891(-) CATGC(A/G)TTATG intron-variant, reference, missense
rs5999 - 197,057,135(-) TTTAC(A/G)CTCTA reference, missense
rs5991 - 197,057,021(-) TCCTG(A/T)GTGTG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for F13B Gene

Variant ID Type Subtype PubMed ID
nsv528460 CNV Gain 19592680
esv743 CNV CNV 17122850
dgv12e55 CNV Gain 17911159
essv8557 CNV CNV 17122850
essv19099 CNV CNV 17122850
nsv873063 CNV Loss 21882294
nsv873064 CNV Gain 21882294
esv1543078 CNV Insertion 17803354
dgv514n71 CNV Loss 21882294
nsv873066 CNV Loss 21882294
esv7629 CNV Gain 19470904

Variation tolerance for F13B Gene

Residual Variation Intolerance Score: 31.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.49; 43.58% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for F13B Gene

HapMap Linkage Disequilibrium report
F13B
Human Gene Mutation Database (HGMD)
F13B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for F13B Gene

Disorders for F13B Gene

MalaCards: The human disease database

(5) MalaCards diseases for F13B Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
factor xiiib deficiency
  • factor xiii subunit b deficiency
factor xiii deficiency
  • deficiency, laki-lorand factor
factor xiii subunit b deficiency
hemarthrosis
  • haemarthrosis of shoulder joint
kuhnt-junius degeneration
  • exudative senile macular degeneration of retina
- elite association - COSMIC cancer census association via MalaCards
Search F13B in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

F13B_HUMAN
  • Factor XIII subunit B deficiency (FA13BD) [MIM:613235]: An autosomal recessive hematologic disorder characterized by a life-long bleeding tendency, impaired wound healing and spontaneous abortion in affected women. {ECO:0000269 PubMed:11313256, ECO:0000269 PubMed:20331752, ECO:0000269 PubMed:26247044, ECO:0000269 PubMed:8324218}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for F13B Gene

bleeding tendency,defective wound healing, habitual abortion,fibrin-stabilizing factor deficiency,type I

Relevant External Links for F13B

Genetic Association Database (GAD)
F13B
Human Genome Epidemiology (HuGE) Navigator
F13B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
F13B
genes like me logo Genes that share disorders with F13B: view

Publications for F13B Gene

  1. Nucleotide sequence of the gene for the b subunit of human factor XIII. (PMID: 2271707) Bottenus R.E. … Davie E.W. (Biochemistry 1990) 2 3 4 67
  2. Congenital factor XIII deficiency caused by two mutations in eight Tunisian families: molecular confirmation of a founder effect. (PMID: 19937244) Louhichi N. … Fakhfakh F. (Ann. Hematol. 2010) 3 23
  3. A highly sensitive chemiluminescence immunoassay for the measurement of coagulation factor XIII subunits and their complex in tears. (PMID: 20079358) Orosz Z.Z. … Muszbek L. (J. Immunol. Methods 2010) 3 23
  4. A novel polymorphism in the factor XIII B-subunit (His95Arg): relationship to subunit dissociation and venous thrombosis. (PMID: 16241947) Komanasin N. … AriAns R.A. (J. Thromb. Haemost. 2005) 3 23
  5. Complete cDNA sequence encoding the B subunit of human factor XIII. (PMID: 2339067) Grundmann U. … Zettlmeissl G. (Nucleic Acids Res. 1990) 2 3

Products for F13B Gene

Sources for F13B Gene

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