factor XIII, b subunit, deficiency of

Summary

factor XIII, b subunit, deficiency of (MONDO:0013190) is a disease caused by F13B (GenCC Strong), with 1 cohort gene.

At a glance

• Causal gene: F13B (GenCC Strong)
• Cohort genes: 1
• ClinVar variants: 64

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	factor XIII, b subunit, deficiency of
Mondo ID	MONDO:0013190
MeSH	C567688
OMIM	613235
UMLS	C2750481
MedGen	442490
GARD	0015635
Is cancer (heuristic)	no

Also known as: factor XIII, b subunit, deficiency of · factor XIIIB deficiency

Data availability: 64 ClinVar variants · 3 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › hematologic disorder › blood coagulation disease › coagulation protein disease › factor XIII deficiency › congenital factor XIII deficiency › factor XIII, b subunit, deficiency of

Related subtypes (1): factor XIII, A subunit, deficiency of

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

64 retrieved; paginated sample, class counts are floors:

39 uncertain significance, 8 pathogenic, 8 conflicting classifications of pathogenicity, 4 benign, 3 likely pathogenic, 1 likely benign, 1 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1098468	NM_001994.3(F13B):c.565G>T (p.Gly189Ter)	F13B	Pathogenic	criteria provided, single submitter
16518	NM_001994.3(F13B):c.65-2del	F13B	Pathogenic	no assertion criteria provided
16519	NM_001994.3(F13B):c.1349G>T (p.Cys450Phe)	F13B	Pathogenic	no assertion criteria provided
16522	NM_001994.3(F13B):c.1498del (p.Glu500fs)	F13B	Pathogenic	no assertion criteria provided
1698968	NM_001994.3(F13B):c.1152_1155dup (p.Pro386fs)	F13B	Pathogenic	criteria provided, single submitter
3573006	NM_001994.3(F13B):c.1731_1735del (p.Leu577fs)	F13B	Pathogenic	criteria provided, single submitter
4687426	NM_001994.3(F13B):c.10A>T (p.Lys4Ter)	F13B	Pathogenic	criteria provided, single submitter
627055	NM_001994.3(F13B):c.299_300insAAC (p.Tyr100Ter)	F13B	Pathogenic	criteria provided, multiple submitters, no conflicts
1324365	NM_001994.3(F13B):c.805+1G>A	F13B	Likely pathogenic	criteria provided, multiple submitters, no conflicts
3576261	NM_001994.3(F13B):c.647T>A (p.Leu216Ter)	F13B	Likely pathogenic	criteria provided, single submitter
3899383	NM_001994.3(F13B):c.1317C>A (p.Cys439Ter)	F13B	Likely pathogenic	criteria provided, single submitter
258503	NM_001994.3(F13B):c.1556-13C>A	F13B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
294570	NM_001994.3(F13B):c.1815C>T (p.His605=)	F13B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
294576	NM_001994.3(F13B):c.1163A>T (p.Glu388Val)	F13B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
294581	NM_001994.3(F13B):c.1025T>C (p.Ile342Thr)	F13B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
294586	NM_001994.3(F13B):c.570G>A (p.Lys190=)	F13B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
717817	NM_001994.3(F13B):c.1586T>C (p.Leu529Pro)	F13B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
717818	NM_001994.3(F13B):c.1049A>G (p.His350Arg)	F13B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
787218	NM_001994.3(F13B):c.765C>T (p.Cys255=)	F13B	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1033881	NM_001994.3(F13B):c.1942C>T (p.Pro648Ser)	F13B	Uncertain significance	criteria provided, single submitter
1098464	NM_001994.3(F13B):c.1693G>A (p.Ala565Thr)	F13B	Uncertain significance	criteria provided, single submitter
1098465	NM_001994.3(F13B):c.881A>T (p.His294Leu)	F13B	Uncertain significance	criteria provided, single submitter
1098466	NM_001994.3(F13B):c.779G>T (p.Trp260Leu)	F13B	Uncertain significance	criteria provided, single submitter
1098467	NM_001994.3(F13B):c.625A>G (p.Thr209Ala)	F13B	Uncertain significance	criteria provided, single submitter
1098469	NM_001994.3(F13B):c.521A>T (p.Asp174Val)	F13B	Uncertain significance	criteria provided, single submitter
1098470	NM_001994.3(F13B):c.431C>T (p.Pro144Leu)	F13B	Uncertain significance	criteria provided, single submitter
1676727	NM_001994.3(F13B):c.1079T>A (p.Val360Glu)	F13B	Uncertain significance	criteria provided, single submitter
2627093	NM_001994.3(F13B):c.86A>T (p.His29Leu)	F13B	Uncertain significance	no assertion criteria provided
2627097	NM_001994.3(F13B):c.1520GAG[1] (p.Gly508del)	F13B	Uncertain significance	no assertion criteria provided
294565	NM_001994.3(F13B):c.*162C>A	F13B	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
F13B	Strong	Autosomal recessive	factor XIII, b subunit, deficiency of	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
F13B	Orphanet:331	Congenital factor XIII deficiency

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
F13B	HGNC:3534	ENSG00000143278	P05160	Coagulation factor XIII B chain	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
F13B	Coagulation factor XIII B chain	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.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Complement	1	268.0×	0.004

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
F13B	Complement	yes		Sushi_SCR_CCP_dom, Sushi/SCR/CCP_sf, ComplSys_Reg/VirEntry_Med

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
liver	1
male germ line stem cell (sensu Vertebrata) in testis	1
right lobe of liver	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
F13B	36	tissue_specific	marker	right lobe of liver, liver, male germ line stem cell (sensu Vertebrata) in testis

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
F13B	995

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
F13B	P05160	2

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 1. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Fibrin formation	1	878.5×	0.001	F13B

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
blood coagulation, fibrin clot formation	1	1685.2×	0.001	F13B
blood coagulation	1	173.7×	0.006	F13B

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
F13B	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
F13B	3	Binding:3

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	1	F13B
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
F13B	3	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.