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

Gene ID: 2165, updated on 5-Mar-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
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Genomic context

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Location:
1q31.3
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (197038741..197067260, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (196300565..196329084, complement)
105.20220307 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. Exploring the structural similarity yet functional distinction between coagulation factor XIII-B and complement factor H sushi domains. Akhter MS, et al. J Thromb Thrombolysis, 2019 Jul. PMID 30915671
  2. Factor XIII levels and factor XIII B subunit polymorphisms in patients with venous thromboembolism. Mezei ZA, et al. Thromb Res, 2017 Oct. PMID 28865246
  3. Regulation of plasma factor XIII levels in healthy individuals; a major impact by subunit B intron K c.1952+144 C>G polymorphism. Mezei ZA, et al. Thromb Res, 2016 Dec. PMID 27821352
  4. Genetic Factors Influencing Coagulation Factor XIII B-Subunit Contribute to Risk of Ischemic Stroke. Hanscombe KB, et al. Stroke, 2015 Aug. PMID 26159793, Free PMC Article
  5. Factor XIII B subunit polymorphisms and the risk of coronary artery disease. Mezei ZA, et al. Int J Mol Sci, 2015 Jan 6. PMID 25569091, Free PMC Article

See all (78) 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
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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)

Genotypes

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_2023_10

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

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