Free for academic non-profit institutions. Other users need a Commercial license

Aliases for F13B Gene

Aliases for F13B Gene

  • Coagulation Factor XIII B Chain 2 3 5
  • Protein-Glutamine Gamma-Glutamyltransferase B Chain 3 4
  • Coagulation Factor XIII, B Polypeptide 2 3
  • 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 Collagen chain trimerization and Formation of Fibrin Clot (Clotting Cascade). An important paralog of this gene is CFH.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for F13B Gene

Genomics for F13B Gene

Regulatory Elements for F13B Gene

Enhancers for F13B Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01G197095 0.7 ENCODE 19.9 -29.0 -28979 2.1 TAF1 TAL1 FOXM1 TCF12 ZNF316 NCOR1 NFE2 MTA2 RNF2 MAFG F13B CFHR3 GC01P197135
GH01G197130 0.5 ENCODE 10.6 -63.9 -63855 1.7 JUND POLR2A JUN CEBPB EP300 F13B CFHR3 GC01P197135
GH01G196898 0.4 FANTOM5 1.4 +169.0 168955 0.4 EZH2 ZBTB41 CFHR3 F13B GC01M196828 LOC105371675
GH01G197513 0.3 FANTOM5 1.2 -445.9 -445906 0.0 ZBTB41 F13B ENSG00000230260 GC01P197674
GH01G196991 1.2 Ensembl ENCODE 0.2 +75.1 75124 0.6 ELF3 PKNOX1 FOXA2 MLX ARID4B DMAP1 ZNF48 ZSCAN9 RAD21 YY1 CFHR3 GC01M196913 F13B
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around F13B on UCSC Golden Path with GeneCards custom track

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

Post-translational modifications for F13B Gene

  • Glycosylation at isoforms=162 and isoforms=545
  • Modification sites at PhosphoSitePlus

Other Protein References for F13B Gene

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

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

No data available for UniProtKB/Swiss-Prot for F13B Gene

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

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for F13B gene
Compartment Confidence
extracellular 5
peroxisome 1
cytosol 1

Gene Ontology (GO) - Cellular Components for F13B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
genes like me logo Genes that share ontologies with F13B: view

Pathways & Interactions for F13B Gene

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

Gene Ontology (GO) - Biological Process for F13B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007596 blood coagulation TAS --
GO:0007599 hemostasis IEA --
genes like me logo Genes that share ontologies with F13B: view

No data available for SIGNOR curated interactions for F13B Gene

Transcripts for F13B Gene

mRNA/cDNA for F13B Gene

(4) 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:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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



Protein tissue co-expression partners for F13B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of F13B Gene:

F13B

SOURCE GeneReport for Unigene cluster for F13B Gene:

Hs.435782

Evidence on tissue expression from TISSUES for F13B Gene

  • Liver(4.5)
  • Heart(4.1)
  • Bone marrow(4)
  • Blood(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for F13B Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • cardiovascular
  • integumentary
  • nervous
  • skeleton
Organs:
Head and neck:
  • brain
  • face
  • head
  • nose
Abdomen:
  • abdominal wall
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • skin
genes like me logo Genes that share expression patterns with F13B: view

Primer 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
chimpanzee
(Pan troglodytes)
Mammalia F13B 35 34
  • 99.55 (n)
OneToOne
dog
(Canis familiaris)
Mammalia F13B 34 35
  • 87.62 (n)
cow
(Bos Taurus)
Mammalia F13B 34 35
  • 81.59 (n)
mouse
(Mus musculus)
Mammalia F13b 34 16 35
  • 80.74 (n)
oppossum
(Monodelphis domestica)
Mammalia F13B 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia F13B 35
  • 60 (a)
OneToOne
chicken
(Gallus gallus)
Aves F13B 34 35
  • 61.42 (n)
lizard
(Anolis carolinensis)
Reptilia F13B 35
  • 49 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii f13b 35
  • 26 (a)
ManyToMany
Species where no ortholog for F13B was found in the sources mined by GeneCards:
  • 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
rs121913075 Pathogenic, Factor XIII subunit B deficiency (FA13BD) [MIM:613235] 197,055,720(-) TGTTT(G/T)CTTGG reference, missense
rs145637157 Factor XIII subunit B deficiency (FA13BD) [MIM:613235] 197,060,462(+) CTGAA(C/T)GACAT reference, missense
rs753009140 Factor XIII subunit B deficiency (FA13BD) [MIM:613235] 197,061,933(+) CAGAG(A/T)TGTAA reference, missense
rs757094432 Factor XIII subunit B deficiency (FA13BD) [MIM:613235] 197,061,829(+) AGAGA(A/G)ACATT reference, missense
rs778826479 Factor XIII subunit B deficiency (FA13BD) [MIM:613235] 197,057,177(+) CCTCA(A/C)AGGCT reference, missense

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

Variant ID Type Subtype PubMed ID
dgv12e55 CNV gain 17911159
esv1543078 CNV insertion 17803354
esv2758990 CNV gain+loss 17122850
esv3588490 CNV loss 21293372
esv3588491 CNV gain 21293372
esv7629 CNV gain 19470904
nsv528460 CNV gain 19592680

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

Human Gene Mutation Database (HGMD)
F13B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
F13B

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

Disorders for F13B Gene

MalaCards: The human disease database

(9) 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
retinitis pigmentosa-12, autosomal recessive
  • retinitis pigmentosa 12
spherocytosis, type 4
  • hereditary spherocytosis type 4
- 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. 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 22 46 64
  2. Complete cDNA sequence encoding the B subunit of human factor XIII. (PMID: 2339067) Grundmann U. … Zettlmeissl G. (Nucleic Acids Res. 1990) 2 3 4 64
  3. 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 64
  4. Genes influencing coagulation and the risk of aneurysmal subarachnoid hemorrhage, and subsequent complications of secondary cerebral ischemia and rebleeding. (PMID: 19826759) Ruigrok Y.M. … Rosendaal F.R. (Acta Neurochir (Wien) 2010) 3 46 64
  5. Identification of fetal and maternal single nucleotide polymorphisms in candidate genes that predispose to spontaneous preterm labor with intact membranes. (PMID: 20452482) Romero R. … Menon R. (Am. J. Obstet. Gynecol. 2010) 3 46 64

Products for F13B Gene

Sources for F13B Gene

Content
Loading form....