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

    Gene ID: 2165, updated on 1-Mar-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See F13B in Genome Data Viewer
    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

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General protein information

    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)

    NEW Try the new Transcript table

    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_001994.3NP_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:274328
      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:213267
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:274517
      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_047449422.1XP_047305378.1  coagulation factor XIII B chain isoform X3

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

      Conserved Domains (3) summary
      cd00033
      Location:274328
      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:213267
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:274516
      PHA02927; secreted complement-binding protein; Provisional
    3. XM_011509283.3XP_011507585.1  coagulation factor XIII B chain isoform X1

      Conserved Domains (3) summary
      cd00033
      Location:274328
      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:213267
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:274517
      PHA02927; secreted complement-binding protein; Provisional
    4. XM_011509286.3XP_011507588.1  coagulation factor XIII B chain isoform X4

      Conserved Domains (3) summary
      cd00033
      Location:226280
      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:165219
      CCP; Domain abundant in complement control proteins; SUSHI repeat; short complement-like repeat (SCR)
      PHA02927
      Location:226469
      PHA02927; secreted complement-binding protein; Provisional
    5. XM_047449423.1XP_047305379.1  coagulation factor XIII B chain isoform X5

    6. XM_047449424.1XP_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_054332743.1XP_054188718.1  coagulation factor XIII B chain isoform X3

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

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

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

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

    6. XM_054332746.1XP_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_054335127.1XP_054191102.1  coagulation factor XIII B chain isoform X3

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

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

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

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

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