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    F13B coagulation factor XIII B chain [ Homo sapiens (human) ]

    Gene ID: 2165, updated on 27-Nov-2024

    Summary

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    Official Symbol
    F13Bprovided by HGNC
    Official Full Name
    coagulation factor XIII B chainprovided by HGNC
    Primary source
    HGNC:HGNC:3534
    See related
    Ensembl:ENSG00000143278 MIM:134580; AllianceGenome:HGNC:3534
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    FXIIIB
    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 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]
    Expression
    Restricted expression toward liver (RPKM 37.1) See more
    Orthologs
    mouse all
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    Genomic context

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    See F13B in Genome Data Viewer
    Location:
    1q31.3
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (197038741..197067260, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (196300565..196329084, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (197007871..197036390, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 2275 Neighboring gene complement factor H related 2 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:196960781-196961380 Neighboring gene complement factor H related 5 Neighboring gene MPRA-validated peak639 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:196986547-196987746 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr1:197037498-197038697 Neighboring gene MPRA-validated peak640 silencer Neighboring gene assembly factor for spindle microtubules Neighboring gene septin 14 pseudogene 12 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 1659 Neighboring gene zinc finger and BTB domain containing 41 Neighboring gene H3K27ac hESC enhancer GRCh37_chr1:197170170-197170755

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Development and evaluation of ELISAs for factor XIIIA and XIIIB subunits in plasma. Murdock PJ, et al. Thromb Res, 1992 Jul 1. PMID 1359667
    2. Factor XIII--circulating levels and Val34Leu polymorphism in relatives of South Asian patients with ischemic stroke. Kain K, et al. J Thromb Haemost, 2005 Jan. PMID 15634282
    3. Protransglutaminase (factor XIII) mediated crosslinking of fibrinogen and fibrin. Siebenlist KR, et al. Thromb Haemost, 2001 Nov. PMID 11816711
    4. Truncated mutant B subunit for factor XIII causes its deficiency due to impaired intracellular transportation. Koseki S, et al. Blood, 2001 May 1. PMID 11313256
    5. Factor XIII in bronchoalveolar lavage fluid from children with chronic bronchoalveolar inflammation. Katona E, et al. J Thromb Haemost, 2005 Jul. PMID 15892856

    See all (79) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Reciprocal stabilization of coagulation factor XIII-A and -B subunits is a determinant of plasma FXIII concentration.
      Title: Reciprocal stabilization of coagulation factor XIII-A and -B subunits is a determinant of plasma FXIII concentration.
    2. Role, Laboratory Assessment and Clinical Relevance of Fibrin, Factor XIII and Endogenous Fibrinolysis in Arterial and Venous Thrombosis.
      Title: Role, Laboratory Assessment and Clinical Relevance of Fibrin, Factor XIII and Endogenous Fibrinolysis in Arterial and Venous Thrombosis.
    3. investigations show no effect of FXIII-B subunit on the rate of complement activation
      Title: Exploring the structural similarity yet functional distinction between coagulation factor XIII-B and complement factor H sushi domains.
    4. Effect of factor XIII levels and polymorphisms on the risk of myocardial infarction in young patients
      Title: Effect of factor XIII levels and polymorphisms on the risk of myocardial infarction in young patients.
    5. In VTE patients the changes of FXIII level and their effect on the risk of VTE show considerable sex-specific differences. Intron K polymorphism results in decreased FXIII levels, but does not influence the risk of VTE.
      Title: Factor XIII levels and factor XIII B subunit polymorphisms in patients with venous thromboembolism.
    6. These findings provide insight into assembly of the fibrinogen/FXIII-A2B2 complex in both physiologic and therapeutic situations.
      Title: The interaction between fibrinogen and zymogen FXIII-A2B2 is mediated by fibrinogen residues γ390-396 and the FXIII-B subunits.
    7. The results suggest that plasma FXIII levels are subjected to multifactorial regulation with age, fibrinogen level and FXIII-B intron K polymorphism being the major determinants. Their effect on FXIII levels might influence the risk of thrombotic diseases.
      Title: Regulation of plasma factor XIII levels in healthy individuals; a major impact by subunit B intron K c.1952+144 C>G polymorphism.
    8. The Val34Leu polymorphism of FXIII was not found in Korean people, and compared with Caucasians, a noticeably low incidence of deep vein thrombosis was shown.
      Title: Prevalence of the Factor XIII Val34Leu Polymorphism in Korean Patients with Deep Vein Thrombosis.
    9. Genetic markers associated with low FXIIIB levels increase risk of ischemic stroke cardioembolic subtype.
      Title: Genetic Factors Influencing Coagulation Factor XIII B-Subunit Contribute to Risk of Ischemic Stroke.
    10. The FXIII-B intron K nt29756 G allele was associated with significant protection against CAS and MI in patients with a fibrinogen level in the upper tertile.
      Title: Factor XIII B subunit polymorphisms and the risk of coronary artery disease.
    Submit: New GeneRIF Correction See all GeneRIFs (32)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Factor XIII, b subunit, deficiency of
    MedGen: C2750481 OMIM: 613235 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    Lupus nephritis susceptibility Loci in women with systemic lupus erythematosus.
    EBI GWAS Catalog
    Pilot genome-wide association search identifies potential loci for risk of erectile dysfunction in type 1 diabetes using the DCCT/EDIC study cohort.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in blood coagulation IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in blood coagulation, fibrin clot formation IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in extracellular region NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    located_in extracellular region TAS
    Traceable Author Statement
    more info
    		  
    located_in extracellular space NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    part_of transferase complex NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    coagulation factor XIII B chain
    Names
    TGase
    coagulation factor XIII, B polypeptide
    fibrin-stabilizing factor B subunit
    protein-glutamine gamma-glutamyltransferase B chain
    transglutaminase B chain
    NP_001985.2
    XP_011507585.1
    XP_011507586.1
    XP_011507588.1
    XP_047305378.1
    XP_047305379.1
    XP_047305380.1
    XP_054188716.1
    XP_054188717.1
    XP_054188718.1
    XP_054188719.1
    XP_054188720.1
    XP_054188721.1
    XP_054191100.1
    XP_054191101.1
    XP_054191102.1
    XP_054191103.1
    XP_054191104.1
    XP_054191105.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012065.1 RefSeqGene

      Range
      5001..33077
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_550

    mRNA and Protein(s)

    1. NM_001994.3 → NP_001985.2  coagulation factor XIII B chain precursor

      See identical proteins and their annotated locations for NP_001985.2

      Status: REVIEWED

      Source sequence(s)
      AK290560, AL353809, BX510295, CB157213, M14057
      Consensus CDS
      CCDS1388.1
      UniProtKB/Swiss-Prot
      A8K3E5, P05160, Q5VYL5
      Related
      ENSP00000356382.2, ENST00000367412.2
      Conserved Domains (3) summary
      cd00033
      Location:274 → 328
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:213 → 267
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:274 → 517
      PHA02927; secreted complement-binding protein; Provisional

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      197038741..197067260 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_047449422.1 → XP_047305378.1  coagulation factor XIII B chain isoform X3

    2. XM_011509284.3 → XP_011507586.1  coagulation factor XIII B chain isoform X2

      Conserved Domains (3) summary
      cd00033
      Location:274 → 328
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:213 → 267
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:274 → 516
      PHA02927; secreted complement-binding protein; Provisional

    3. XM_011509283.3 → XP_011507585.1  coagulation factor XIII B chain isoform X1

      Conserved Domains (3) summary
      cd00033
      Location:274 → 328
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:213 → 267
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:274 → 517
      PHA02927; secreted complement-binding protein; Provisional

    4. XM_011509286.3 → XP_011507588.1  coagulation factor XIII B chain isoform X4

      Conserved Domains (3) summary
      cd00033
      Location:226 → 280
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system
      smart00032
      Location:165 → 219
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:226 → 469
      PHA02927; secreted complement-binding protein; Provisional

    5. XM_047449423.1 → XP_047305379.1  coagulation factor XIII B chain isoform X5

    6. XM_047449424.1 → XP_047305380.1  coagulation factor XIII B chain isoform X6

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_025791754.1 Reference GRCh38.p14 PATCHES

      Range
      803872..832391 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332743.1 → XP_054188718.1  coagulation factor XIII B chain isoform X3

    2. XM_054332742.1 → XP_054188717.1  coagulation factor XIII B chain isoform X2

    3. XM_054332741.1 → XP_054188716.1  coagulation factor XIII B chain isoform X1

    4. XM_054332744.1 → XP_054188719.1  coagulation factor XIII B chain isoform X4

    5. XM_054332745.1 → XP_054188720.1  coagulation factor XIII B chain isoform X5

    6. XM_054332746.1 → XP_054188721.1  coagulation factor XIII B chain isoform X6

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      196300565..196329084 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054335127.1 → XP_054191102.1  coagulation factor XIII B chain isoform X3

    2. XM_054335126.1 → XP_054191101.1  coagulation factor XIII B chain isoform X2

    3. XM_054335125.1 → XP_054191100.1  coagulation factor XIII B chain isoform X1

    4. XM_054335128.1 → XP_054191103.1  coagulation factor XIII B chain isoform X4

    5. XM_054335129.1 → XP_054191104.1  coagulation factor XIII B chain isoform X5

    6. XM_054335130.1 → XP_054191105.1  coagulation factor XIII B chain isoform X6

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P05160.3 GenPept UniProtKB/Swiss-Prot:P05160

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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