F13B (coagulation factor XIII B chain)

Gene

• Entrez ID: 2165
• Gene name: Coagulation factor XIII B chain
• Gene symbol: F13B
• Synonyms (NCBI Gene): FXIIIB
• Chromosome: 1
• Chromosome location: 1q31.3
• 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 ca

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs6003	C>T	Benign, risk-factor	Coding sequence variant, missense variant
rs121913075	C>A	Pathogenic	Missense variant, coding sequence variant
rs779048554	->GTT	Pathogenic	Coding sequence variant, stop gained
rs797044453	C>-	Pathogenic	Coding sequence variant, frameshift variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018864	hsa-miR-335-5p	Microarray	18185580
MIRT023000	hsa-miR-124-3p	Microarray	18668037
MIRT030013	hsa-miR-26b-5p	Microarray	19088304
MIRT1988676	hsa-miR-4671-5p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	NAS	14718574
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	NAS	12524220
GO:0007596	Process	Blood coagulation	IBA
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	TAS	2334637
GO:0007599	Process	Hemostasis	IEA
GO:0072378	Process	Blood coagulation, fibrin clot formation	IDA	27363989
GO:1990234	Component	Transferase complex	NAS	27363989

Other IDs

• MIM: 134580
• HGNC: 3534
• e!Ensembl: ENSG00000143278

Protein

• UniProt ID: P05160
• Protein name: Coagulation factor XIII B chain (Fibrin-stabilizing factor B subunit) (Protein-glutamine gamma-glutamyltransferase B chain) (Transglutaminase B chain)
• Protein 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.
• PDB: 8CMT, 8CMU
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00084	Sushi	25 → 87	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	91 → 146	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	153 → 208	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	213 → 267	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	274 → 327	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	336 → 389	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	396 → 450	Sushi repeat (SCR repeat)	Domain
  PF00084	Sushi	524 → 578	Sushi repeat (SCR repeat)	Domain

• Sequence:

  MRLKNLTFIIILIISGELYAEEKPCGFPHVENGRIAQYYYTFKSFYFPMSIDKKLSFFCL
  AGYTTESGRQEEQTTCTTEGWSPEPRCFKKCTKPDLSNGYISDVKLLYKIQENMRYGCAS
  GYKTTGGKDEEVVQCLSDGWSSQPTCRKEHETCLAPELYNGNYSTTQKTFKVKDKVQYEC
  ATGYYTAGGKKTEEVECLTYGWSLTPKCTKLKCSSLRLIENGYFHPVKQTYEEGDVVQFF
  CHENYYLSGSDLIQCYNFGWYPESPVCEGRRNRCPPPPLPINSKIQTHSTTYRHGEIVHI
  ECELNFEIHGSAEIRCEDGKWTEPPKCIEGQEKVACEEPPFIENGAANLHSKIYYNGDKV
  TYACKSGYLLHGSNEITCNRGKWTLPPECVENNENCKHPPVVMNGAVADGILASYATGSS
  VEYRCNEYYLLRGSKISRCEQGKWSSPPVCLEPCTVNVDYMNRNNIEMKWKYEGKVLHGD
  LIDFVCKQGYDLSPLTPLSELSVQCNRGEVKYPLCTRKESKGMCTSPPLIKHGVIISSTV
  DTYENGSSVEYRCFDHHFLEGSREAYCLDGMWTTPPLCLEPCTLSFTEMEKNNLLLKWDF
  DNRPHILHGEYIEFICRGDTYPAELYITGSILRMQCDRGQLKYPRCIPRQSTLSYQEPLR
  T

• Sequence length: 661

Pathways

KEGG:

Complement and coagulation cascades
Coronavirus disease - COVID-19

Reactome:

Common Pathway of Fibrin Clot Formation

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Cholesteatoma	Pathogenic	rs928709083	RCV002292665	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Coagulation factor deficiency syndrome	Pathogenic	rs779048554	RCV000851768	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
F13B-related disorder	Likely pathogenic	rs2527146722	RCV003421105	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Factor XIII deficiency	Likely pathogenic	rs550859190	RCV004794546	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Factor XIII, b subunit, deficiency of	Pathogenic; Likely pathogenic	rs748757906, rs2125071982, rs550859190, rs748297201, rs121913075, rs797044453, rs779048554	RCV002272825 RCV001420400 RCV001781070 RCV000017982 RCV000017983 RCV000017986 RCV002266896	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CONGENITAL FACTOR XIII DEFICIENCY	—	CTD, Orphanet CTD, Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERECTILE DYSFUNCTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FACTOR XIII DEFICIENCY DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hereditary factor XIII deficiency disease	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thrombus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOSIS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Venous thrombosis, susceptibility to	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Acute Promyelocytic Leukemia	Promyelocytic Leukemia	BEFREE	8634442		★☆☆☆☆ Found in Text Mining only
Alzheimer Disease	Alzheimer disease	Pubtator	34531462	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	25384012	Associate	★☆☆☆☆ Found in Text Mining only
Bathing suit ichthyosis	Ichthyosis	BEFREE	16968736		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	26159793, 36471393, 36944974	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	12654631		★☆☆☆☆ Found in Text Mining only
Cerebral Infarction	Ischemic stroke	Pubtator	26159793	Associate	★☆☆☆☆ Found in Text Mining only
Cholangiocarcinoma	Cholangiocarcinoma	Pubtator	39831920	Associate	★☆☆☆☆ Found in Text Mining only
Congenital factor XIII deficiency	Congenital Factor XIII Deficiency	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	25569091	Associate	★☆☆☆☆ Found in Text Mining only
Deep Vein Thrombosis	Thrombosis	CTD_human_DG	16241947		★☆☆☆☆ Found in Text Mining only
Factor XIII Deficiency	Factor xiii deficiency	Pubtator	31340840	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Heart Failure	Heart failure	Pubtator	17515963	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhage	Hemorrhage	Pubtator	31013569	Associate	★☆☆☆☆ Found in Text Mining only
Hereditary Factor XIII Deficiency	Hereditary Factor XIII Deficiency	ORPHANET_DG	21738029		★☆☆☆☆ Found in Text Mining only
Hereditary Factor XIII Deficiency	Hereditary Factor XIII Deficiency	CTD_human_DG	2334637		★☆☆☆☆ Found in Text Mining only
Hereditary Factor XIII Deficiency	Hereditary Factor XIII Deficiency	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Huntington Disease	Huntington Disease	BEFREE	11738472		★☆☆☆☆ Found in Text Mining only
Idiopathic Inflammatory Myopathies	Inflammatory Myopathy	BEFREE	14631123		★☆☆☆☆ Found in Text Mining only
Liver Diseases	Liver disease	Pubtator	17515963	Associate	★☆☆☆☆ Found in Text Mining only
Liver Failure	Liver failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Macular Degeneration	Macular degeneration	Pubtator	18541031	Associate	★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	12654631		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	8645175		★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial Infarction	LHGDN	12456499, 17515963		★☆☆☆☆ Found in Text Mining only
Myocardial Infarction	Myocardial infarction	Pubtator	17515963, 25569091	Associate	★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	8645175		★☆☆☆☆ Found in Text Mining only
Spontaneous hematomas	Hematomas	HPO_DG			★☆☆☆☆ Found in Text Mining only
Varicosity	Vulval varices	BEFREE	1783414		★☆☆☆☆ Found in Text Mining only
Venous Thrombosis	Venous thrombosis	Pubtator	16241947	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations