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 fac... See more...

Aliases for F13B Gene

Aliases for F13B Gene

  • Coagulation Factor XIII B Chain 2 3 4 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 2 3
  • TGase 3
  • F13B 5

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 Xiii, B Subunit, Deficiency Of and Factor Xiii Deficiency. Among its related pathways are Formation of Fibrin Clot (Clotting Cascade) and Collagen chain trimerization. An important paralog of this gene is CSMD1.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for F13B Gene

Genomics for F13B Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for F13B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J197067 Promoter 0.6 EPDnew 250.7 0.0 -16 0.1 TAF1 KAT8 ZGPAT F13B piR-41370-001 ASPM
GH01J197095 Enhancer 0.9 Ensembl ENCODE 19.9 -29.0 -28981 2.1 NCOR1 IKZF1 NFIC TAL1 ZNF316 NFE2 FOXM1 BATF MAFG TCF12 F13B CFHR3 piR-41370-001 HE856164 ASPM lnc-ZBTB41-1
GH01J197141 Promoter 0.7 Ensembl 10.7 -74.6 -74637 0.2 ZNF316 ZKSCAN1 ZNF24 CHAMP1 POLR2A CBX3 DPF2 F13B ZBTB41 CRB1 ASPM SEPTIN14P12 lnc-ZBTB41-2 lnc-ZBTB41-8 lnc-ZBTB41-1
GH01J197034 Enhancer 0.3 Ensembl 18.6 +32.1 32063 1.2 JUND PRDM1 F13B CFHR3 lnc-ASPM-2 HSALNG0009427 CFHR5
GH01J197130 Enhancer 0.6 Ensembl ENCODE 10.6 -64.0 -63981 1.9 JUND CEBPB EP300 CTCF F13B CFHR3 HE856164 ASPM piR-41370-001 lnc-ZBTB41-1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around F13B on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for F13B

Top Transcription factor binding sites by QIAGEN in the F13B gene promoter:
  • HNF-4alpha1
  • HNF-4alpha2
  • Pax-5
  • Pbx1a
  • POU2F1
  • POU2F1a
  • POU2F1b
  • POU2F1c

Genomic Locations for F13B Gene

Latest Assembly
chr1:197,038,741-197,067,264
(GRCh38/hg38)
Size:
28,524 bases
Orientation:
Minus strand

Previous Assembly
chr1:197,007,871-197,036,390
(GRCh37/hg19 by Entrez Gene)
Size:
28,520 bases
Orientation:
Minus strand

chr1:197,008,321-197,036,397
(GRCh37/hg19 by Ensembl)
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 Asn162 and Asn545
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for F13B Gene

Antibodies for research

No data available for DME Specific Peptides for F13B Gene

Domains & Families for F13B Gene

Gene Families for F13B Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Candidate cardiovascular disease genes
  • Disease related genes
  • Plasma proteins
  • Predicted secreted proteins

Protein Domains for F13B Gene

InterPro:
Blocks:
  • Sushi domain/SCR domain/CCP module

Suggested Antigen Peptide Sequences for F13B Gene

GenScript: Design optimal peptide antigens:
  • Transglutaminase B chain (F13B_HUMAN)
genes like me logo Genes that share domains with F13B: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for F13B Gene

Function for F13B Gene

Molecular function for F13B Gene

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.
GENATLAS Biochemistry:
coagulation factor XIII,B polypeptide,non catalytic (80kDa)

Phenotypes From GWAS Catalog for F13B Gene

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:
  • F13b F13b<tm1Akic>

miRNA for F13B Gene

miRTarBase miRNAs that target F13B

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for 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
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
plasma membrane 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
peroxisome 0

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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for F13B Gene

Pathways & Interactions for F13B Gene

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

Pathways by source for F13B Gene

3 Qiagen pathways for F13B Gene
  • Blood Coagulation Cascade
  • Extrinsic Prothrombin Activation Pathway
  • Intrinsic Prothrombin Activation Pathway

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 --
GO:1903363 negative regulation of cellular protein catabolic process IEA --
genes like me logo Genes that share ontologies with F13B: view

No data available for SIGNOR curated interactions for F13B Gene

Drugs & Compounds for F13B Gene

(5) Drugs for F13B Gene - From: DrugBank

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Catridecacog Approved Pharma Target 0
Human thrombin Approved Pharma Target, activator 0
Thrombin Approved, Investigational Pharma Target, activator 447
Zinc Approved, Investigational Pharma Target 1706
zinc acetate Approved, Investigational Pharma Target 0
genes like me logo Genes that share compounds with F13B: view

Transcripts for F13B Gene

mRNA/cDNA for F13B Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for F13B

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

No ASD Table

Relevant External Links for F13B Gene

GeneLoc Exon Structure for
F13B

Expression for F13B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for F13B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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 and MOPED for F13B Gene



Protein tissue co-expression partners for F13B Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for F13B

SOURCE GeneReport for Unigene cluster for F13B Gene:

Hs.435782

Evidence on tissue expression from TISSUES for F13B Gene

  • Liver(4.6)
  • Heart(4.3)
  • Bone marrow(4.2)
  • 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
Regions:
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 for research

No data available for 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 29 30
  • 99.55 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia F13B 29 30
  • 87.62 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia F13B 29 30
  • 81.59 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia F13b 29 16 30
  • 80.74 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia F13B 30
  • 68 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia F13B 30
  • 60 (a)
OneToOne
Chicken
(Gallus gallus)
Aves F13B 29 30
  • 61.42 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia F13B 30
  • 49 (a)
OneToOne
Zebrafish
(Danio rerio)
Actinopterygii f13b 30
  • 26 (a)
ManyToMany
Species where no ortholog for F13B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for F13B: view image
Alliance of Genome Resources:
Additional Orthologs for F13B

Paralogs for F13B Gene

Variants for F13B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for F13B Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
1030503 Pathogenic: Factor XIII, b subunit, deficiency of 197,062,880(-) C/T
NM_001994.3(F13B):c.242G>A (p.Trp81Ter)
NONSENSE
1033879 Pathogenic: Factor XIII, b subunit, deficiency of 197,057,028(-) G/GAAGT
NM_001994.3(F13B):c.1152_1155dup (p.Pro386fs)
FRAMESHIFT
1033880 Pathogenic: Factor XIII, b subunit, deficiency of 197,040,670(-) TG/T
NM_001994.3(F13B):c.1803del (p.Asp601fs)
FRAMESHIFT
1033881 Uncertain Significance: Factor XIII, b subunit, deficiency of 197,040,532(-) G/A
NM_001994.3(F13B):c.1942C>T (p.Pro648Ser)
MISSENSE
873766 Uncertain Significance: Factor XIII, b subunit, deficiency of 197,057,078(-) A/G
NM_001994.3(F13B):c.1106T>C (p.Leu369Pro)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for F13B Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for F13B Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for F13B Gene

MalaCards: The human disease database

(8) MalaCards diseases for F13B Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
factor xiii, b subunit, deficiency of
  • factor xiiib deficiency
factor xiii deficiency
  • deficiency, laki-lorand factor
thrombophilia due to thrombin defect
  • thph1
thrombosis
  • thrombosis of blood vessel
retinitis pigmentosa 12
  • rp12
- 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 variants 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

Additional Disease Information for F13B

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 … Ariëns RA (Journal of thrombosis and haemostasis : JTH 2005) 3 22 40 72
  2. Genetic variants of coagulation factor XIII, postmenopausal estrogen therapy, and risk of nonfatal myocardial infarction. (PMID: 12456499) Reiner AP … Psaty BM (Blood 2003) 3 40 72
  3. Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation. (PMID: 11313256) Koseki S … Shitishima T (Blood 2001) 3 4 72
  4. Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII. (PMID: 8324218) Hashiguchi T … Ichinose A (Blood 1993) 3 4 72
  5. Nucleotide sequence of the gene for the b subunit of human factor XIII. (PMID: 2271707) Bottenus RE … Davie EW (Biochemistry 1990) 2 3 4

Products for F13B Gene

Sources for F13B Gene