Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2162
Gene name	Coagulation factor XIII A chain
Gene symbol	F13A1
Synonyms (NCBI Gene)	F13A
Chromosome	6
Chromosome location	6p25.1
Summary	This gene encodes the coagulation factor XIII A 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 hav

Show/Hide all (20)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2815822	T>A,C,G	Pathogenic, benign	Intron variant
rs121913064	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs121913065	G>A	Pathogenic	Stop gained, coding sequence variant
rs121913066	G>A,T	Pathogenic	Stop gained, coding sequence variant, synonymous variant
rs121913067	G>A,C,T	Pathogenic	Missense variant, coding sequence variant, synonymous variant
rs121913068	C>T	Pathogenic	Missense variant, coding sequence variant
rs121913069	C>A,T	Pathogenic	Missense variant, coding sequence variant
rs121913070	C>A	Pathogenic	Missense variant, coding sequence variant
rs121913072	C>T	Pathogenic	Missense variant, coding sequence variant
rs121913073	C>A	Pathogenic	Missense variant, coding sequence variant
rs121913074	T>C	Pathogenic	Missense variant, coding sequence variant
rs267606787	G>A	Pathogenic	Coding sequence variant, missense variant
rs267606788	A>G	Pathogenic	Coding sequence variant, missense variant
rs267606789	G>A	Pathogenic	Coding sequence variant, stop gained
rs372296352	C>T	Pathogenic	Splice acceptor variant
rs768024997	C>A,T	Likely-pathogenic	Coding sequence variant, missense variant
rs778181928	G>A,C	Likely-pathogenic	Missense variant, synonymous variant, coding sequence variant
rs1416626948	TTCT>-	Pathogenic	Frameshift variant, coding sequence variant
rs1561645895	AT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1561673120	C>A	Pathogenic	Missense variant, coding sequence variant

Show/Hide all (52)

miRTarBase ID	miRNA	Experiments
MIRT974286	hsa-miR-105	CLIP-seq
MIRT974287	hsa-miR-1200	CLIP-seq
MIRT974288	hsa-miR-1260	CLIP-seq
MIRT974289	hsa-miR-1260b	CLIP-seq
MIRT974290	hsa-miR-1273f	CLIP-seq
MIRT974291	hsa-miR-1276	CLIP-seq
MIRT974292	hsa-miR-143	CLIP-seq
MIRT974293	hsa-miR-188-3p	CLIP-seq
MIRT974294	hsa-miR-203	CLIP-seq
MIRT974295	hsa-miR-299-3p	CLIP-seq
MIRT974296	hsa-miR-3129-3p	CLIP-seq
MIRT974297	hsa-miR-3156-3p	CLIP-seq
MIRT974298	hsa-miR-412	CLIP-seq
MIRT974299	hsa-miR-4307	CLIP-seq
MIRT974300	hsa-miR-4311	CLIP-seq
MIRT974301	hsa-miR-4324	CLIP-seq
MIRT974302	hsa-miR-4422	CLIP-seq
MIRT974303	hsa-miR-4428	CLIP-seq
MIRT974304	hsa-miR-4491	CLIP-seq
MIRT974305	hsa-miR-4637	CLIP-seq
MIRT974306	hsa-miR-4648	CLIP-seq
MIRT974307	hsa-miR-4654	CLIP-seq
MIRT974308	hsa-miR-4657	CLIP-seq
MIRT974309	hsa-miR-4719	CLIP-seq
MIRT974310	hsa-miR-4744	CLIP-seq
MIRT974311	hsa-miR-4769-5p	CLIP-seq
MIRT974312	hsa-miR-4770	CLIP-seq
MIRT974313	hsa-miR-544b	CLIP-seq
MIRT974314	hsa-miR-577	CLIP-seq
MIRT974315	hsa-miR-583	CLIP-seq
MIRT974286	hsa-miR-105	CLIP-seq
MIRT1988660	hsa-miR-128	CLIP-seq
MIRT1988661	hsa-miR-182	CLIP-seq
MIRT1988662	hsa-miR-192	CLIP-seq
MIRT1988663	hsa-miR-215	CLIP-seq
MIRT1988664	hsa-miR-25	CLIP-seq
MIRT1988665	hsa-miR-27a	CLIP-seq
MIRT1988666	hsa-miR-27b	CLIP-seq
MIRT1988667	hsa-miR-32	CLIP-seq
MIRT1988668	hsa-miR-324-5p	CLIP-seq
MIRT1988669	hsa-miR-363	CLIP-seq
MIRT1988670	hsa-miR-367	CLIP-seq
MIRT1988671	hsa-miR-4470	CLIP-seq
MIRT1988672	hsa-miR-4677-3p	CLIP-seq
MIRT974309	hsa-miR-4719	CLIP-seq
MIRT1988673	hsa-miR-92a	CLIP-seq
MIRT1988674	hsa-miR-92b	CLIP-seq
MIRT1988675	hsa-miR-934	CLIP-seq
MIRT974286	hsa-miR-105	CLIP-seq
MIRT1988661	hsa-miR-182	CLIP-seq
MIRT1988671	hsa-miR-4470	CLIP-seq
MIRT1988672	hsa-miR-4677-3p	CLIP-seq

Show/Hide all (2)

Transcription factor	Regulation	Reference
ETS1	Unknown	10037697
GATA1	Unknown	10037697

Show/Hide all (24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003810	Function	Protein-glutamine gamma-glutamyltransferase activity	IBA
GO:0003810	Function	Protein-glutamine gamma-glutamyltransferase activity	IDA	27363989
GO:0003810	Function	Protein-glutamine gamma-glutamyltransferase activity	IEA
GO:0003810	Function	Protein-glutamine gamma-glutamyltransferase activity	TAS	2877456
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS	2877457
GO:0005615	Component	Extracellular space	NAS	12524220
GO:0005737	Component	Cytoplasm	IEA
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	IEA
GO:0007596	Process	Blood coagulation	TAS	10801785
GO:0007599	Process	Hemostasis	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016746	Function	Acyltransferase activity	IEA
GO:0018149	Process	Peptide cross-linking	IDA	27363989
GO:0031012	Component	Extracellular matrix	HDA	25037231, 28344315, 28675934
GO:0031093	Component	Platelet alpha granule lumen	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0072378	Process	Blood coagulation, fibrin clot formation	IBA
GO:0072378	Process	Blood coagulation, fibrin clot formation	IDA	27363989
GO:0072378	Process	Blood coagulation, fibrin clot formation	IEA
GO:0072562	Component	Blood microparticle	HDA	22516433
GO:1990234	Component	Transferase complex	NAS	27363989

MIM	HGNC	e!Ensembl
134570	3531	ENSG00000124491

P00488

Protein name

Coagulation factor XIII A chain (Coagulation factor XIIIa) (EC 2.3.2.13) (Protein-glutamine gamma-glutamyltransferase A chain) (Transglutaminase A chain)

Protein function

Factor XIII is activated by thrombin and calcium ion to a transglutaminase that catalyzes the formation of gamma-glutamyl-epsilon-lysine cross-links between fibrin chains, thus stabilizing the fibrin clot. Also cross-link alpha-2-plasmin inhibit

PDB

1EVU , 1EX0 , 1F13 , 1FIE , 1GGT , 1GGU , 1GGY , 1QRK , 4KTY , 5MHL , 5MHM , 5MHN , 5MHO , 8CMT , 8CMU

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00868	Transglut_N	45 → 165	Transglutaminase family	Domain
PF01841	Transglut_core	284 → 398	Transglutaminase-like superfamily	Family
PF00927	Transglut_C	519 → 623	Transglutaminase family, C-terminal ig like domain	Domain
PF00927	Transglut_C	631 → 728	Transglutaminase family, C-terminal ig like domain	Domain

Sequence

MSETSRTAFGGRRAVPPNNSNAAEDDLPTVELQGVVPRGVNLQEFLNVTSVHLFKERWDT
NKVDHHTDKYENNKLIVRRGQSFYVQIDFSRPYDPRRDLFRVEYVIGRYPQENKGTYIPV
PIVSELQSGKWGAKIVMREDRSVRLSIQSSPKCIVGKFRMYVAVWTPYGVLRTSRNPETD
TYILFNPWCEDDAVYLDNEKEREEYVLNDIGVIFYGEVNDIKTRSWSYGQFEDGILDTCL
YVMDRAQMDLSGRGNPIKVSRVGSAMVNAKDDEGVLVGSWDNIYAYGVPPSAWTGSVDIL
LEYRSSENPVRYGQCWVFAGVFNTFLRCLGIPARIVTNYFSAHDNDANLQMDIFLEEDGN
VNSKLTKDSVWNYHCWNEAWMTRPDLPVGFGGWQAVDSTPQENSDGMYRCGPASVQAIKH
GHVCFQFDAPFVFAEVNSDLIYITAKKDGTHVVENVDATHIGKLIVTKQIGGDGMMDITD
TYKFQEGQEEERLALETALMYGAKKPLNTEGVMKSRSNVDMDFEVENAVLGKDFKLSITF
RNNSHNRYTITAYLSANITFYTGVPKAEFKKETFDVTLEPLSFKKEAVLIQAGEYMGQLL
EQASLHFFVTARINETRDVLAKQKSTVLTIPEIIIKVRGTQVVGSDMTVTVQFTNPLKET
LRNVWVHLDGPGVTRPMKKMFREIRPNSTVQWEEVCRPWVSGHRKLIASMSSDSLRHVYG
ELDVQIQRRPSM

Sequence length

732

Interactions

View interactions

	KEGG		Reactome
	Complement and coagulation cascades Coronavirus disease - COVID-19		Platelet degranulation Common Pathway of Fibrin Clot Formation Interleukin-4 and Interleukin-13 signaling

182

Show/Hide Causal Diseases (7)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
F13A1-related disorder	Pathogenic; Likely pathogenic	rs1479557022, rs760818476, rs372296352, rs267606789, rs774669729	RCV003410898 RCV003901095 RCV004755742 RCV003415716 RCV003894441
Factor XIII, A subunit, deficiency of	Pathogenic; Likely pathogenic	rs1760997136, rs2113123881, rs2480618246, rs2480490515, rs1757202231, rs1176119481, rs2480385304, rs2480651992, rs760818476, rs2113184331, rs121913064, rs121913065, rs121913066, rs121913067, rs121913069 View all (19 more)	RCV001783234 RCV002052271 RCV003126312 RCV003145090 RCV003313841 RCV003313846 RCV003313884 RCV003333888 RCV003484579 RCV000017987 RCV000017988 RCV000017989 RCV000017990 RCV000017991 RCV000017993 RCV000017994 RCV000017995 RCV000017998 RCV000017999 RCV000018000 RCV000018001 RCV000018002 RCV000018003 RCV000018004 RCV000018005 RCV003890759 RCV005042081 RCV000022542 RCV000714480 RCV000754780 RCV000852055 RCV000851910 RCV001420448 RCV003388121
Gastric cancer	Pathogenic	rs121913069	RCV005887536
Hereditary factor XIII deficiency disease	Pathogenic	rs1561673120	RCV000785755
Myocardial infarction, susceptibility to	Pathogenic	rs1416626948	RCV005042081
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs372296352	RCV005887537
Thrombophilia due to thrombin defect	Pathogenic	rs1416626948	RCV005042081

Show/Hide Unknown Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormal bleeding	Uncertain significance	rs750203146	RCV001270561
Acute myeloid leukemia	Benign	rs3024466	RCV005899123
Cervical cancer	Likely benign	rs3024486	RCV005899127
Cholangiocarcinoma	Benign; Likely benign	rs3024439, rs3024486	RCV005922096 RCV005899128
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs187027323	RCV005899131
Lung cancer	Benign	rs3024466	RCV005899126
Malignant tumor of esophagus	Benign; Conflicting classifications of pathogenicity	rs3024466, rs187027323	RCV005899124 RCV005899130
Myocardial infarction, protection against	Conflicting classifications of pathogenicity	rs5985	RCV000017996
Thrombocytopenia	Uncertain significance	rs750203146	RCV001270561
Thymoma	Benign	rs3024466	RCV005899125
Uterine corpus endometrial carcinoma	Likely benign	rs3024486	RCV005899129
Venous thrombosis, protection against	Conflicting classifications of pathogenicity	rs5985	RCV000017997

Show/Hide Text Mining Associations (120)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
18 Hydroxylase deficiency	Associate	9531593
Abdominal Injuries	Inhibit	23995569
Abdominal Injuries	Associate	30446716
Abortion Spontaneous	Associate	9920838
Airway Obstruction	Associate	26525229
Allergic Fungal Sinusitis	Stimulate	23541322
Angina Unstable	Inhibit	25693916
Angina Unstable	Associate	25693916
Angiomyolipoma	Associate	1675869
Aortic Aneurysm Abdominal	Associate	25384012
Arterial Occlusive Diseases	Associate	10627467
Arthritis Psoriatic	Associate	8838494
Asthma	Associate	24934276, 26525229
Astrocytoma	Associate	1675869
Atherosclerosis	Associate	9710118
Blood Coagulation Disorders	Associate	21829388, 36944974, 37180121, 4977030
Brain Infarction	Associate	10627467
Brain Ischemia	Associate	19826759
Brain Stem Infarctions	Associate	30185149
Breast Neoplasms	Stimulate	40264151
Carcinoma Squamous Cell	Associate	34177903
Cardiomyopathies	Associate	17515963
Cardiomyopathy Hypertrophic	Associate	33167412, 35126952
Cardiovascular Diseases	Associate	30223472, 30320542
Cartilage Diseases	Associate	11438463
Cerebral Hemorrhage	Associate	11391716, 11961312, 17488662
Cerebral Infarction	Associate	11841441, 18006701, 29769590, 34357004
Cerebrovascular Disorders	Associate	11391716, 11841441, 12542492
Choroidal Neovascularization	Associate	26307969
Chronic Disease	Associate	16950433
Cleft Lip	Associate	8411074
Cleft Palate	Associate	8099257
Coagulation Protein Disorders	Associate	22923741
Colorectal Neoplasms	Associate	10816592
Congenital Hereditary and Neonatal Diseases and Abnormalities	Associate	8838494
Congenital Plasminogen Deficiency	Associate	27976734
Coronary Artery Disease	Associate	16501286, 16881935, 20211923, 21800001, 24510702, 32525847
Coronary Disease	Associate	11391716
Death	Associate	24510702, 30223472
Dermatitis Atopic	Associate	2576222
Disease	Associate	11391716
Embolism	Associate	10910940
Factor XIII B Subunit Deficiency Of	Associate	1353995, 8025280, 8547636, 9414279
Factor XIII Deficiency	Associate	15456491, 20179087, 22923741, 27879471, 29307277, 30404926, 31340840, 31914974, 32883222, 8025280, 8547636, 9414279, 9531593
Factor XIII Deficiency	Stimulate	1644910
Factor XIII Deficiency	Inhibit	22923741, 34506591
Glioblastoma	Associate	34180136
Growth Disorders	Associate	1675869
Heart Failure	Associate	17515963, 30223472
Hematoma	Associate	34857025
Hemorrhage	Associate	11342420, 31013569, 34857025, 37832789
Hemorrhagic Disorders	Associate	32311817, 32883222
Hemorrhagic Stroke	Associate	10627467, 30404926
Histiocytoma Benign Fibrous	Associate	31493396, 7686570
Hypertrophy	Associate	33167412
IgA Vasculitis	Associate	23995569
Immunologic Deficiency Syndromes	Inhibit	31013569
Immunologic Deficiency Syndromes	Associate	31340840, 37832789, 8025280, 9414279
Infarction	Associate	17515963
Inflammation	Associate	20113359, 23541322, 2880614, 36596079, 37180121
Inflammation	Stimulate	33167412
Intracranial Hemorrhages	Associate	30404926, 9920839
Intracranial Thrombosis	Associate	37175682
Ischemic Attack Transient	Associate	11391716
Keloid	Associate	7686570
Lactate Dehydrogenase Deficiency	Associate	1353995
Leukemia	Associate	22434605, 28523449
Leukemia Promyelocytic Acute	Associate	22434605
Liver Diseases	Associate	17515963
Lymphedema	Associate	11841441
Lymphohistiocytosis Hemophagocytic	Associate	38183241
Macular Degeneration	Associate	26307969
Malignant mesenchymal tumor	Associate	7686570
Malignant Teratocarcinosarcoma	Associate	27137987
Muscular Dystrophy Duchenne	Stimulate	36596079
Mycosis Fungoides	Associate	1281618
Myocardial Infarction	Associate	10627467, 11391716, 11841441, 12456499, 12480694, 12542492, 15629368, 16501286, 17515963, 20211923, 21800001, 24510702, 30223472, 40305362, 9920839
Myopia Degenerative	Associate	26307969
Myotonic Dystrophy	Associate	34462518
Nasal Polyps	Stimulate	23541322
Nasal Polyps	Associate	36361742
Neoplasms	Associate	2312834, 29747676, 31493396, 40462124, 7686570
Neoplastic Syndromes Hereditary	Associate	15456491
Nephrogenic Fibrosing Dermopathy	Associate	18629675
Neuralgia	Associate	7686570
Non ST Elevated Myocardial Infarction	Associate	40305362
Obesity	Associate	17582472, 20532202, 33167412
Orofacial Cleft 1	Associate	8099257
Osteoarthritis	Associate	11438463
Osteoarthritis Knee	Associate	11438463
Precursor B Cell Lymphoblastic Leukemia Lymphoma	Associate	28523449
Pruritic urticarial papules plaques of pregnancy	Associate	23781752
Psoriasis	Associate	2576222
Pulmonary Disease Chronic Obstructive	Stimulate	26525229
Pulmonary Disease Chronic Obstructive	Associate	37180121
Pulmonary Embolism	Associate	10910940, 18057060, 30635605, 33128086, 40105557
Pulmonary Fibrosis	Associate	1707417
Purpura Thrombotic Thrombocytopenic	Associate	17895511
Retinopathy of Prematurity	Associate	2312834
Short Bowel Syndrome	Associate	30446716
Skin Diseases	Associate	1675869
ST Elevation Myocardial Infarction	Associate	17515963, 40305362
Status Asthmaticus	Associate	26525229
Stroke	Associate	34979665
Subarachnoid Hemorrhage	Associate	19826759, 30185149, 31315570
Thromboembolism	Stimulate	27976734
Thromboembolism	Associate	27976734
Thrombophilia	Associate	31914974
Thrombosis	Associate	10910940, 11342420, 11841441, 12358922, 17582472, 17895511, 19572074, 20010469, 20211923, 21800001, 26307969, 34234378
Thrombotic Microangiopathies	Associate	17895511
Tomaculous neuropathy	Associate	1644910, 20179087, 9920838
Tuberous Sclerosis	Associate	1675869
Ulcer	Associate	16945500, 16950433
Urologic Diseases	Associate	23995569
Urticaria	Associate	23781752
Varicose Ulcer	Associate	16945500, 16950433, 19958990
Venous Thromboembolism	Associate	11091190, 12542492, 17433418, 19552680, 25341889, 40105557, 9920839
Venous Thromboembolism	Stimulate	19552680
Venous Thrombosis	Associate	10627467, 11391716, 12358922, 16241947, 16501286, 17582472, 20010469, 25973747, 31989767, 40105557, 9920839
Xanthogranuloma Juvenile	Associate	7511867

F13A1 (coagulation factor XIII A chain)