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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

F13A1 Gene

protein-coding GIFtS: 68
GCID: GC06M006089

coagulation factor XIII, A1 polypeptide

(Previous symbol: F13A)

Explore 132 diseases affiliated with
F13A1 via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Coagulation Factor XIII, A1 Polypeptide¹ ²		Coagulation Factor XIII A Chain²
F13A¹ ² ³ ⁵		Coagulation Factor XIII, A Polypeptide²
Coagulation Factor XIIIa² ³		Factor XIIIa²
Protein-Glutamine Gamma-Glutamyltransferase A Chain² ³		Fibrin Stabilizing Factor, A Subunit²
Transglutaminase A Chain² ³		Fibrinoligase¹
EC 2.3.2.13³ ⁸		FSF, A Subunit²
TGase²		Transglutaminase. Plasma²
BA525O21.1 (Coagulation Factor XIII, A1 Polypeptide)²

External Ids:	HGNC: 3531¹	Entrez Gene: 2162²	Ensembl: ENSG00000124491⁷	OMIM: 134570⁵	UniProtKB: P00488³

Export aliases for F13A1 gene to outside databases

Previous GC identifer: GC06M006129

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for F13A1:

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 have catalytic function, and the B subunits do not have enzymatic activity and may serve as

plasma carrier molecules. Platelet factor XIII is comprised only of 2 A subunits, which are identical to those of

plasma origin. Upon 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. It also crosslinks alpha-2-plasmin inhibitor, or fibronectin, to

the alpha chains of fibrin. 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)

UniProtKB/Swiss-Prot: F13A_HUMAN, P00488

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 inhibitor, or fibronectin, to the alpha chains of fibrin

Gene Wiki entry for F13A1 (Coagulation factor XIII, A1 polypeptide)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000006.11 NC_018917.1 NT_007592.15

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the F13A1 gene promoter:
Nkx3-1 Nkx3-1 v4 RP58 FOXO3 Nkx3-1 v1 FOXO3b HNF-1A Nkx3-1 v2 FOXO3a Nkx3-1 v3
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: F13A1 promoter sequence

Search SABiosciences Chromatin IP Primers for F13A1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat F13A1

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 6p25.3-p24.3 Ensembl cytogenetic band: 6p25.1 HGNC cytogenetic band: 6p24.2-p23

F13A1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
F13A1 gene location

GeneLoc information about chromosome 6 GeneLoc Exon Structure

GeneLoc location for GC06M006089: view genomic region (about GC identifiers)

Start:	6,144,311 bp from pter	End:	6,321,246 bp from pter
Size:	176,936 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: F13A_HUMAN, P00488 (See protein sequence)

Recommended Name: Coagulation factor XIII A chain precursor

Size: 732 amino acids; 83267 Da

Cofactor: Binds 1 calcium ion per subunit

Subunit: Tetramer of two A chains and two B chains

Subcellular location: Cytoplasm. Secreted. Note=Secreted into the blood plasma. Cytoplasmic in most tissues, but also

secreted in the blood plasma

Sequence caution: Sequence=AAA52489.1; Type=Erroneous initiation; Sequence=BAD92089.1; Type=Erroneous initiation;

6/8 PDB 3D structures from and Proteopedia for F13A1 (see all 8):

1EVU (3D)

1EX0 (3D)

1F13 (3D)

1FIE (3D)

1GGT (3D)

1GGU (3D)

Secondary accessions: Q59HA7 Q8N6X2 Q96P24 Q9BX29

Explore the universe of human proteins at neXtProt for F13A1: NX_P00488

Post-translational modifications:

The activation peptide is released by thrombin¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P00488

4/8 DME Specific Peptides for F13A1 (P00488) (see all 8)

FAEVNSD

WMTRPDL

LIVRRGQ

YILFNPWC

F13A1 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000120.2

ENSEMBL proteins:

ENSP00000264870 ENSP00000394693 ENSP00000413334 ENSP00000416295 ENSP00000411114

Reactome Protein details: P00488
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	Uscn Proteins for F13A1

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0031093	platelet alpha granule lumen	TAS	--

F13A1 for ontologies About GeneDecksing

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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for F13A1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

F13A1 for domains About GeneDecksing

5/7 InterPro domains/families (see all 7):

IPR014756 Ig_E-set

IPR023608 Gln_gamma-glutamylTfrase_euk

IPR013783 Ig-like_fold

IPR002931 Transglutaminase-like

IPR008958 Transglutaminase_C

Graphical View of Domain Structure for InterPro Entry P00488

ProtoNet protein and cluster: P00488

1 Blocks protein family: IPB002931 Transglutaminase-like domain

UniProtKB/Swiss-Prot: F13A_HUMAN, P00488

Similarity: Belongs to the transglutaminase superfamily. Transglutaminase family

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: F13A_HUMAN, P00488

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 inhibitor, or fibronectin, to the alpha chains of fibrin

Catalytic activity: Protein glutamine + alkylamine = protein N(5)-alkylglutamine + NH(3)

Genatlas biochemistry entry for F13A1:

coagulation factor XIII,A1 polypeptide,catalytic subunit (75kDa),catalyzing the formation of glutamyl-lysine bonds

between fibrin monomers

Enzyme Number (IUBMB): EC 2.3.2.13¹ ²

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for F13A1

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003810	protein-glutamine gamma-glutamyltransferase activity	TAS	--
GO:0046872	metal ion binding	IEA	--

F13A1 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for F13A1:

Increased G1 DNA content

Animal Models:
Mouse knock-out F13a1^tm1Gdi for F13A1
6 MGI mutant phenotypes (inferred from 1 allele) (MGI details for F13a1):

cardiovascular system	hematopoietic system	homeostasis/metabolism	mortality/aging	reproductive system
respiratory system

F13A1 for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/7 super-pathways (see all 7) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Common Pathway

	Common Pathway	1.00			fibrin multimer -> fibrin multimer, crosslinked + NH4+	0.36
	Extrinsic Prothrombin Activation Pathway	0.69

Platelet degranulation

Platelet degranulation

1.00

Response to elevated platelet cytosolic Ca2+

0.94

Blood Coagulation Cascade

Blood Coagulation Cascade

1.00

Intrinsic Prothrombin Activation Pathway

0.96

Platelet activation, signaling and aggregation

Platelet activation, signaling and aggregation

1.00

Hemostasis

0.43

Formation of Fibrin Clot (Clotting Cascade)

Formation of Fibrin Clot (Clotting Cascade)

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for F13A1

Selected targets of HNF1

3 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for F13A1

	Extrinsic Prothrombin Activation Pathway
	Blood Coagulation Cascade
	Intrinsic Prothrombin Activation Pathway

5/7 Reactome Pathways for F13A1 (see all 7)

	Hemostasis
	Formation of Fibrin Clot (Clotting Cascade)
	Platelet degranulation
	Platelet activation, signaling and aggregation
	Response to elevated platelet cytosolic Ca2+

1 Kegg Pathway (Kegg details for F13A1):

Complement and coagulation cascades

F13A1 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for F13A1

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/50 Interacting proteins for F13A1 (P00488^{2, 3} ENSP00000264870⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 50)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ANXA7	P20073²^,³	MINT-8248329 I2D: score=2
CDKN1A	P38936²^,³	MINT-8251860 I2D: score=2
NUDT21	O43809²^,³	MINT-8264325 I2D: score=2
PTK2	Q05397²^,³	MINT-8267552 I2D: score=2
SH3GL2	Q99962²^,³	MINT-8270451 I2D: score=2

About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002576	platelet degranulation	TAS	--
GO:0007596	blood coagulation	TAS	--
GO:0018149	peptide cross-linking	IEA	--
GO:0030168	platelet activation	TAS	--
GO:0042060	wound healing	--	--

F13A1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

F13A1 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for F13A1

3 HMDB Compounds for F13A1 About this table

Compound	Synonyms	CAS #	PubMed Ids
Ammonia	NH3 (see all 31)	7664-41-7	--
Calcium	Ca (see all 2)	7440-70-2	--
L-Glutamine	(2S)-2,5-diamino-5-oxopentanoic acid (see all 31)	56-85-9	--

3 DrugBank Compounds for F13A1 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
L-Glutamine	(S)-2,5-diamino-5-oxopentanoic acid (see all 4)	56-85-9	enzyme	substrate	17139284 2913946 17016423 9603949 3390446
1,2-Propanediol	--	57-55-6	target	--	17139284 17016423
N-Acetyl-Serine	--	16354-58-8	target	--	17139284 17016423

10/28 Novoseek chemical compound relationships for F13A1 gene (see all 28) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
epsilon-(gamma-glutamyl)lysine	75.6	3	9465033 (1), 11460466 (1), 9724734 (1)
fibrinogen	74.1	79	1685332 (3), 10631982 (3), 19198072 (3), 9710118 (2) (see all 53)
reticulin	54.6	1	1505929 (1)
monodansylcadaverine	53.2	1	1680857 (1)
s 100	47.9	2	1281618 (1), 11285404 (1)
glutamine	43.5	6	9603949 (2), 15362870 (1), 9312106 (1), 9724734 (1) (see all 5)
amine	42.3	6	1352131 (1), 10799541 (1), 1978326 (1), 16636049 (1) (see all 6)
hematoxylin	30.2	3	7512798 (1), 10366399 (1), 15803191 (1)
lysine	28.7	5	15837518 (1), 11460477 (1), 19257897 (1), 9603949 (1)
heparinoids	28.7	1	15989500 (1)

Search CenterWatch for drugs/clinical trials and news about F13A1 / F13A

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for F13A1 gene:

NM_000129.3

Unigene Cluster for F13A1:

Coagulation factor XIII, A1 polypeptide

Hs.335513 [show with all ESTs]

Unigene Representative Sequence: BC027963

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000264870(uc003mwv.3 uc011dib.2) ENST00000445223 ENST00000479211

ENST00000414279 ENST00000431222 ENST00000451619

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Additional cDNA sequence:

AB208852.1 AK130666.1 AK304335.1 AK312735.1 BC027963.1 M14354.1 M14539.1

8 DOTS entries:

DT.453281 DT.100797643 DT.101979204 DT.100702451 DT.121317831 DT.91696727 DT.95370037 DT.121317847

24/268 AceView cDNA sequences (see all 268):

AI084428 AI242271 AI359399 CA393826 BP345710 BQ181975 AI803681 BF725271

CF529974 BM973214 AA235945 BX403516 BP346119 BQ773609 BX361150 CR620128

CR612572 AI074666 BU616129 AK130666 BX379071 H88754 AI146398 AL542145

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

F13A1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TTGAGACCTC

About this image

F13A1 expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Yolk Sac

Definitive Yolk Sac

Definitive Hematopoietic Stem Cells

Blood

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See F13A1 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for F13A1

SOURCE GeneReport for Unigene cluster: Hs.335513

SABiosciences Expression via Pathway-Focused PCR Array including F13A1:

Wound Healing in human mouse rat

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of animals.

Orthologs for F13A1 gene from 4/17 species (see all 17) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	F13A1¹	coagulation factor XIII, A1 polypeptide	67.81(n) 65.84(a)		395420 NM_204685.1 NP_990016.1
lizard (Anolis carolinensis)	Reptilia	F13A1⁶	--	67(a)	1 ↔ 1	GL343421.1(709975-815096)
zebrafish (Danio rerio)	Actinopterygii	wufo83d04²	wufo83d04	74.67(n)		337688 BQ263795.1
fruit fly (Drosophila melanogaster)	Insecta	CG7356³	protein-glutamine gamma-glutamyltransferase	34(a)		--

ENSEMBL Gene Tree for F13A1 (if available)
TreeFam Gene Tree for F13A1 (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for F13A1 gene

TGM3² EPB42² TGM1² TGM5² TGM7² TGM4² TGM2² TGM6²

8 SIMAP similar genes for F13A1 using alignment to 7 protein entries: F13A_HUMAN (see all proteins):

EPB42 TGM1 TGM2 TGM3 TGM4 TGM6

TGM5 TGM7

F13A1 for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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UniProtKB/Swiss-Prot: F13A_HUMAN, P00488

Polymorphism: There are four main allelic forms of this protein; F13A*1A, F13A*1B, F13A*2A and F13A*2B. In addition two

other intermediate forms (F13A*(2)A and F13A*(2)B) seem to exist. The sequence shown is that of F13A*(2)B

SNP ID	Valid	Clinical significance	Chr 6 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs5985^1,2	C,F,A,H,	other	6318795(-)	`AGGGCG/TTGGTG`	2	V L	mis¹		29		MN NS EA NA WA CSA EU	8693
rs115855856^1,2		--	6143814(+)	`TAAGCT/CATTGA`	1	--	ds500¹		1		NA	120
rs190833969^1,2		--	6143937(+)	`CTATAC/TGTGAT`	1	--	ds500¹		0	--	--	--	--
rs9504688^1,2	C,F,A,H,	--	6143944(+)	`TGATTA/GTCATA`	1	--	ds500¹		20		NS EA NA CSA WA	2342
rs9504689^1,2		--	6143955(+)	`AGACCA/GTAACA`	1	--	ds500¹		0	--	--	--	--
rs9502421^1,2	C,F,A,H,	--	6143961(+)	`TAACAT/GGTGTT`	1	--	ds500¹		21		NS EA NA CSA WA	2348
rs72815060^1,2	C,F,	--	6143968(+)	`TGTTCG/ATTATG`	1	--	ds500¹		2		WA NA	238
rs182974625^1,2		--	6144060(+)	`ATAGTC/TTCTGG`	1	--	ds500¹		0	--	--	--	--
rs188677054^1,2		--	6144092(+)	`TGCAAA/CTTGAT`	1	--	ds500¹		0	--	--	--	--
rs192484996^1,2		--	6144119(+)	`TTAATA/TAAATG`	1	--	ds500¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for F13A1 (6144311 - 6321246 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 6 variations for F13A1
1 CNV: 93481
5 Indels: 40825 47144 51934 28343 99413
Human Gene Mutation Database (HGMD): F13A1

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing F13A1

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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F13A1 for disorders           About GeneDecksing

OMIM gene information: 134570
OMIM disorders: 613225
UniProtKB/Swiss-Prot: F13A_HUMAN, P00488

Defects in F13A1 are the cause of factor XIII subunit A deficiency (FA13AD) [MIM:613225]. FA13AD is an

autosomal recessive disorder characterized by a life-long bleeding tendency, impaired wound healing and spontaneous

abortion in affected women

20/132 diseases for F13A1 (see all 132): About MalaCards

factor xiii deficiency factor xiii subunit a deficiency langerhans-cell histiocytosis erythema elevatum diutinum

non-langerhans-cell histiocytosis habitual abortion submandibular adenitis granuloma annulare

patent foramen ovale fibrous histiocytoma factor xiiia deficiency dermatofibrosarcoma protuberans

papular mucinosis malignant fibrous histiocytoma toxic epidermal necrolysis juvenile xanthogranuloma

disseminated intravascular coagulation chronic venous leg ulcers age related macular degeneration deep vein thrombosis

2 diseases from the University of Copenhagen DISEASES database for F13A1:

Factor XIII deficiency Cleft lip

10/69 Novoseek disease relationships for F13A1 gene (see all 69) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
dermatofibroma	92.9	26	16640542 (2), 16740036 (2), 7545142 (2), 7694515 (1) (see all 23)
dermatofibrosarcoma protuberans	86.4	12	16640542 (2), 16740036 (2), 7694515 (1), 11401666 (1) (see all 10)
juvenile xanthogranuloma	85.2	3	7511867 (1), 10871066 (1), 15630537 (1)
histiocytoma fibrous	82.2	7	16640542 (2), 11401666 (1), 1972317 (1), 9185909 (1) (see all 5)
factor xiii deficiency	76.5	3	14720426 (1), 12801297 (1), 20179087 (1)
xanthoma disseminatum	69.8	4	1519935 (2)
fibroma	68.7	4	7523665 (2), 11401666 (1)
dysfibrinogenemia	62.5	1	10443961 (1)
hemangiopericytoma	61.5	1	9561329 (1)
angiofibroma	59.3	3	8733380 (1), 7523665 (1), 14744088 (1)

Genatlas disease: F13A1

bleeding tendency,defective wound healing,habitual abortion,fibrin-stabilizing factor deficiency,type II

Genetic Association Database (GAD): F13A1
Human Genome Epidemiology (HuGE) Navigator: F13A1 (143 documents)

Export disorders for F13A1 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for F13A1 gene, integrated from 9 sources (see all 617):
(articles sorted by number of sources associating them with F13A1)

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world of online information

Preeclampsia and its interaction with common variants in thrombophilia genes. (PubMed id 15333035)^{1, 4, 9} De Maat M.P....De Groot C.J. (2004)
Coagulation factor XIII polymorphisms and the risk of myocardial infarction and ischaemic stroke in young women. (PubMed id 11841441)^{1, 4, 9} Reiner A.P....Siscovick D.S. (2002)
Identification of a point mutation in factor XIII A subunit deficiency. (PubMed id 1353995)^{1, 2, 9} Board P.... Miloszewski K. (1992)
Parent-of-origin transmission of thrombophilic alleles to intrauterine growth-restricted newborns and transmission-ratio distortion in unaffected newborns. (PubMed id 16192348)^{1, 4} Infante-Rivard C. and Weinberg C.R. (2005)
Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)^{1, 2} Liu T.... Smith R.D. (2005)
Polymorphisms of haemostasis genes as risk factors for preterm delivery. (PubMed id 16113789)^{1, 4} Hartel C....Gopel W. (2005)
Turkish population data on the factor XIII Val34Leu,glycoprotein (GP)Ibalpha Kozak and P-selectin glycoprotein ligand 1 (PSGL-1) loci. (PubMed id 15386532)^{1, 4} Hancer V.S....Nalcaci M. (2005)
A pharmacogenetic effect of factor XIII valine 34 leucine polymorphism on fibrinolytic therapy for acute myocardial infarction. (PubMed id 15629368)^{1, 4} Marin F....Vicente V. (2005)
Factor XIII Val34Leu polymorphism and gamma-chain cross-linking at the site of microvascular injury in healthy and coumadin-treated subjects. (PubMed id 16102108)^{1, 4} Undas A....Mann K.G. (2005)
Polymorphisms in prothrombotic genes and their impact on ischemic stroke in a Sardinian population. (PubMed id 15968394)^{1, 4} Rubattu S....Volpe M. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2162	HGNC: 3531	AceView: F13A1	Ensembl:ENSG00000124491	euGenes: HUgn2162
ECgene: F13A1	Kegg: 2162	H-InvDB: F13A1

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for F13A1	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/F13A1
SeattleSNPs	http://pga.gs.washington.edu/data/f13a1/
SHMPD	http://shmpd.bii.a-star.edu.sg/gene.php?genestart=A&genename=F13A1
Wikipedia	http://en.wikipedia.org/wiki/Factor_XIII

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F13A1 Gene

coagulation factor XIII, A1 polypeptide

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Kaposi Sarcoma
Histiocytosis X
Meningeal Tumors
Juvenile Xanthogranuloma
Carcinoma Basal Cell
Hemangiopericytoma
Colitis Ulcerative
Xanthoma Disseminatum
malignant fibrous histiocytoma
Atherosclerosis
Skin Diseases
Adenocarcinoma
AIDS
Factor XIII Deficiency
Mycosis Fungoides
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vascular proliferation
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F13A1 Gene

coagulation factor XIII, A1 polypeptide

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