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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

F12 Gene

protein-coding GIFtS: 68
GCID: GC05M176829

coagulation factor XII (Hageman factor)

Explore 48 diseases affiliated with
F12 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 XII (Hageman Factor)¹ ²		Beta-Factor XIIa Part 1²
HAF² ³ ⁵		Beta-Factor XIIa Part 2²
Hageman Factor² ³		Coagulation Factor XII²
EC 3.4.21.38³ ⁸		Coagulation Factor XIIa Heavy Chain²
HAE3² ⁵		Coagulation Factor XIIa Light Chain²
HAEX²		EC 3.4.21⁸

External Ids:	HGNC: 3530¹	Entrez Gene: 2161²	Ensembl: ENSG00000131187⁷	OMIM: 610619⁵	UniProtKB: P00748³

Export aliases for F12 gene to outside databases

Previous GC identifers: GC05M177202 GC05M177671 GC05M176764 GC05M176810 GC05M176761 GC05M171749

(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 F12:

This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted

to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two

fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain,

whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy

chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes

beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII

first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of

blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors

VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting

time is prolonged. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: FA12_HUMAN, P00748

Function: Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis,

and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to form kallikrein, which

then cleaves factor XII first to alpha-factor XIIa and then trypsin cleaves it to beta-factor XIIa. Alpha-factor XIIa

activates factor XI to factor XIa

Gene Wiki entry for F12 (Factor XII)

(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_000005.9 NC_018916.1 NT_023133.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the F12 gene promoter:
Oct-B1 GR oct-B3 oct-B2 GATA-2 PPAR-gamma1 POU2F1 PPAR-gamma2 GR-alpha ATF
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: F12 promoter sequence

Search SABiosciences Chromatin IP Primers for F12

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat F12

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

Entrez Gene cytogenetic band: 5q33-qter Ensembl cytogenetic band: 5q35.3 HGNC cytogenetic band: 5q33-qter

F12 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
F12 gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05M176829: view genomic region (about GC identifiers)

Start:	176,829,139 bp from pter	End:	176,836,577 bp from pter
Size:	7,439 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: FA12_HUMAN, P00748 (See protein sequence)

Recommended Name: Coagulation factor XII precursor

Size: 615 amino acids; 67792 Da

Subunit: Interacts with HRG; the interaction, which is enhanced in the presence of zinc ions and inhibited by

heparin-binding, inhibits factor XII autoactivation and contact-initiated coagulation

Subcellular location: Secreted

2 PDB 3D structures from and Proteopedia for F12:

4BDW (3D)

4BDX (3D)

Secondary accessions: P78339

Explore the universe of human proteins at neXtProt for F12: NX_P00748

Post-translational modifications:

Factor XII is activated by kallikrein in alpha-factor XIIa, which is then further converted by trypsin into beta-factor

XIIa. Alpha-factor XIIa is composed of the NH2-terminal heavy chain (Coagulation factor XIIa heavy chain) and the

COOH-terminal light chain (Coagulation factor XIIa light chain), connected by a disulfide bond. Beta-factor XIIa is

composed of 2 chains linked by a disulfide bond, a light chain (Beta-factor XIIa part 2), corresponding to the

COOH-terminal light chain (Coagulation factor XIIa light chain) and a nonapeptide (Beta-factor XIIa part 1)¹

O- and N-glycosylated. The O-linked polysaccharides were not identified, but are probably the mucin type linked to

GalNAc¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P00748

4/10 DME Specific Peptides for F12 (P00748) (see all 10)

CGQRLRK

TAAHCLQ

SGGPLVC

GDSGGPL

F12 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000496.2

ENSEMBL proteins:

ENSP00000253496

Reactome Protein details: P00748
Human Recombinant Protein Products:

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	Browse Sino Biological Recombinant Proteins
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	Uscn Proteins for F12

Gene Ontology (GO): 3 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:0005615	extracellular space	IDA	6793628
GO:0005886	plasma membrane	TAS	--

F12 for ontologies About GeneDecksing

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Assay Products for F12:

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	Uscn ELISAs and CLIAs for F12

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

F12 for domains About GeneDecksing

5/12 InterPro domains/families (see all 12):

IPR000083 Fibronectin_type1

IPR001314 Peptidase_S1A

IPR014394 Coagulation_fac_XIIa/HGFA

IPR000742 EG-like_dom

IPR018056 Kringle_CS

Graphical View of Domain Structure for InterPro Entry P00748

ProtoNet protein and cluster: P00748

5/6 Blocks protein families (see all 6):

IPB000001 Kringle

IPB000083 Fibronectin

IPB000562 Type II fibronectin collagen-binding domain

IPB001254 Serine protease

IPB001314 Chymotrypsin serine protease family (S1) signature

UniProtKB/Swiss-Prot: FA12_HUMAN, P00748

Similarity: Belongs to the peptidase S1 family

Similarity: Contains 2 EGF-like domains

Similarity: Contains 1 fibronectin type-I domain

Similarity: Contains 1 fibronectin type-II domain

Similarity: Contains 1 kringle domain

Similarity: Contains 1 peptidase S1 domain

(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: FA12_HUMAN, P00748

Function: Factor XII is a serum glycoprotein that participates in the initiation of blood coagulation, fibrinolysis,

and the generation of bradykinin and angiotensin. Prekallikrein is cleaved by factor XII to form kallikrein, which

then cleaves factor XII first to alpha-factor XIIa and then trypsin cleaves it to beta-factor XIIa. Alpha-factor XIIa

activates factor XI to factor XIa

Catalytic activity: Selective cleavage of Arg- -Ile bonds in factor VII to form factor VIIa and factor XI to form

factor XIa

Genatlas biochemistry entry for F12:

coagulation factor XII,80kDa, (Hageman)

Enzyme Numbers (IUBMB): EC 3.4.21.38¹ ² EC 3.4.21²

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Gene Editing
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for F12

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004252	serine-type endopeptidase activity	IDA	6793628
GO:0005488	binding	--	--
GO:0005515	protein binding	IPI	8710908
GO:0008233	peptidase activity	--	--
GO:0051787	misfolded protein binding	IC	18725990

F12 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-out F12^tm1Pbfd for F12
     3 MGI mutant phenotypes (inferred from 1 allele) (MGI details for F12):

homeostasis/metabolism

nervous system

normal

F12 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

Formation of Fibrin Clot (Clotting Cascade)

	Formation of Fibrin Clot (Clotting Cascade)	1.00			Blood Coagulation Signaling Pathways	0.51
	Intrinsic Pathway	0.59			Blood Clotting Cascade	0.36

Complement and coagulation cascades

Complement and coagulation cascades

1.00

Complement and Coagulation Cascades

0.72

Blood Coagulation Cascade

Blood Coagulation Cascade

1.00

Intrinsic Prothrombin Activation Pathway

0.96

Development_CNTF receptor signaling

Cell adhesion Plasmin signaling

0.07

Cell adhesion_Plasmin signaling

0.07

MSP-RON Signaling

MSP-RON Signaling

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for F12

Cell adhesion Plasmin signaling

1 R&D Systems Pathway for F12

Blood Coagulation Signaling Pathways

4 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for F12

	MSP-RON Signaling
	Extrinsic Prothrombin Activation Pathway
	Blood Coagulation Cascade
	Intrinsic Prothrombin Activation Pathway

1 GeneGo (Thomson Reuters) Pathway for F12

Cell adhesion Plasmin signaling

2 BioSystems Pathways for F12

	Blood Clotting Cascade
	Complement and Coagulation Cascades

3 Reactome Pathways for F12

	Hemostasis
	Formation of Fibrin Clot (Clotting Cascade)
	Intrinsic Pathway

1 Kegg Pathway (Kegg details for F12):

Complement and coagulation cascades

F12 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for F12

STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

5/21 Interacting proteins for F12 (P00748^{1, 3} ENSP00000253496⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 21)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
APP	P05067³, ENSP00000284981⁴	I2D: score=2 STRING: ENSP00000284981
KLKB1	P03952³, ENSP00000264690⁴	I2D: score=2 STRING: ENSP00000264690
CD93	Q9NPY3³, ENSP00000246006⁴	I2D: score=1 STRING: ENSP00000246006
EPAS1	Q99814³, ENSP00000263734⁴	I2D: score=1 STRING: ENSP00000263734
MMP13	P45452³, ENSP00000260302⁴	I2D: score=1 STRING: ENSP00000260302

About this table

Gene Ontology (GO): 5/15 biological process terms (GO ID links to tree view) (see all 15): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002353	plasma kallikrein-kinin cascade	IDA	6793628
GO:0002542	Factor XII activation	IDA	18725990
GO:0006508	proteolysis	IEA	--
GO:0007596	blood coagulation	TAS	--
GO:0007597	blood coagulation, intrinsic pathway	TAS	--

F12 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

F12 for compounds About GeneDecksing

EMD Millipore small molecules for F12:
Small Molecule - inhibitor

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for F12

1 HMDB Compound for F12 About this table

Compound	Synonyms	CAS #	PubMed Ids
Bradykinin	Callidin I (see all 5)	58-82-2	--

10 Novoseek chemical compound relationships for F12 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
kininogen	85.6	13	10984376 (2), 8505323 (1), 11724506 (1), 17897012 (1) (see all 12)
kaolin	59	2	11154114 (1)
serine	30.6	3	20142324 (1), 8733013 (1), 16153533 (1)
heparin	9.08	1	8215954 (1)
vitamin-e	1.64	1	10225721 (1)
histidine	1.06	1	8447816 (1)
estrogen	0.872	3	11459781 (3)
fibrinogen	0	3	14524034 (2), 11755949 (1)
zinc	0	1	7749371 (1)
aspirin	0	1	11438345 (1)

Search CenterWatch for drugs/clinical trials and news about F12 / FA12

(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 F12 gene:

NM_000505.3

Unigene Cluster for F12:

Coagulation factor XII (Hageman factor)

Hs.1321 [show with all ESTs]

Unigene Representative Sequence: NM_000505

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

ENST00000253496(uc003mgo.4) ENST00000502854 ENST00000504406 ENST00000510358

ENST00000514943 ENST00000503736

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Additional cDNA sequence:

AB095845.1 BC012390.1 BT007350.1 M11723.1 M13147.1 M31315.1

10 DOTS entries:

DT.312633 DT.92424230 DT.95077161 DT.100755217 DT.100755218 DT.120810943 DT.92424226 DT.95263422

DT.120810890 DT.92424234

24/78 AceView cDNA sequences (see all 78):

BF530348 AW291360 BM784735 BM563198 BG531824 BG533735 BC012390 BM765106

BQ276450 BF513608 CR601747 AL564533 AL564609 BX431923 BM927217 BM745007

BM790979 CR616520 BM781626 M31315 AL531940 BG193410 BG248482 BM995940

GeneLoc Exon Structure

4 Alternative Splicing Database (ASD) splice patterns (SP) for F12 About this scheme

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7a	·	7b	^	8	^	9a	·	9b	^	10	^	11a	·	11b	·	11c	^	12	^	13	^	14
SP1:													-						-						-
SP2:																	-		-						-
SP3:																									-
SP4:

ECgene alternative splicing isoforms for F12

(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

F12 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAAGGCAAGA

About this image

F12 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)

Liver

Liver Lobule

Liver

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See F12 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for F12

SOURCE GeneReport for Unigene cluster: Hs.1321

SABiosciences Custom PCR Arrays for F12

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for F12 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat F12

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for F12

(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 F12 gene from 3/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	F12^{1 , 5}	coagulation factor XII (Hageman factor)^{1, 5}	77.89(n)¹ 72.7(a)¹		13 (30.06 cM)⁵ 58992¹ NM_021489.2¹ NP_067464.2¹ 55417958⁵
lizard (Anolis carolinensis)	Reptilia	F12⁶	--	42(a)	1 ↔ 1	2(145882155-145899508)
honey bee (Apis mellifera)	Insecta	--	--	5(a)	possible ortholog	GroupUn.841(30640-42833)

ENSEMBL Gene Tree for F12 (if available)
TreeFam Gene Tree for F12 (if available)

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

Paralogs for F12 gene

KREMEN1² KREMEN2² PLAT² PLG² HGFAC² LPA² PLAU² HABP2²

MST1² MST1L² HGF²

18/92 SIMAP similar genes for F12 using alignment to 2 protein entries: FA12_HUMAN (see all proteins) (see all similar genes):

PRSS44 PRSS56 CORIN F11 TMPRSS13 ELA2A

TMPRSS5 TMPRSS11A TPSB2 DKFZp586F0824 OVCH1 PRSS12

PRSS36 ST14 TMPRSS3 DKFZp779M0222 KLKB1 serase-1B

F12 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)
About This Section

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs118204456^1,2	C	pathogenic	172290709(-)	`GCCCAA/C/GGACCC`	3	K T R	mis¹		0	--	--	--	--
rs17876036^1,2	C,F,H,	--	171749327(-)	`TCTCAG/AACCAT`	1	--	ds500¹		11		NS NA WA	1494
rs111372017^1,2	C	--	171749568(+)	`TCCTTC/G/TTCAGC`	2	--	ut3¹		1		CSA	1
rs2070853^1,2	C,H	--	171749596(-)	`CAGGAA/GCTCAA`	1	--	ut3¹ ese³		5		NS EA NA	418
rs17876035^1,2	C,F	--	171749755(-)	`CCTACT/CACCTG`	2	/H /Y	mis¹ ese³		4		NS NA	4636
rs17876034^1,2	C	--	171750024(-)	`CCCCGG/ACATGC`	2	/D /G	mis¹		2		NS	94
rs17876048^1,2	C,	--	171750878(-)	`GGGAAG/AAGAGC`	1	--	int¹ trp³		2		NS	72
rs17876033^1,2	C,F	--	171750997(-)	`CGTAAC/TCACAG`	2	N	syn¹ ese³		3		NS NA	3242
rs41309760^1,2	C	--	171751168(-)	`TTCCAC/TGCCCC`	1	--	int¹		0	--	--	--	--
rs17876028^1,2	C,F,	--	171753634(-)	`CGGCCC/GTGAAC`	1	--	int¹		2		NS	94

HapMap Linkage Disequilibrium report for F12 (176829139 - 176836577 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for F12
2 CNVs: 53135 30224
Human Gene Mutation Database (HGMD): F12

Locus Specific Mutation Databases (LSDB): F12

SABiosciences Cancer Mutation PCR Assays

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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.)
About This Section

F12 for disorders           About GeneDecksing

OMIM gene information: 610619
OMIM disorders: 234000  610618
UniProtKB/Swiss-Prot: FA12_HUMAN, P00748

Defects in F12 are the cause of factor XII deficiency (FA12D) [MIM:234000]; also known as Hageman factor

deficiency. This trait is an asymptomatic anomaly of in vitro blood coagulation. Its diagnosis is based on finding a

low plasma activity of the factor in coagulating assays. It is usually only accidentally discovered through

pre-operative blood tests. F12 deficiency is divided into two categories, a cross-reacting material (CRM)-negative

group (negative F12 antigen detection) and a CRM-positive group (positive F12 antigen detection)

Defects in F12 are the cause of hereditary angioedema type 3 (HAE3) [MIM:610618]; also known as

estrogen-related HAE or hereditary angioneurotic edema with normal C1 inhibitor concentration and function. HAE is

characterized by episodic local subcutaneous edema, and submucosal edema involving the upper respiratory and

gastrointestinal tracts. HAE3 occurs exclusively in women and is precipitated or worsened by high estrogen levels

(e.g. during pregnancy or treatment with oral contraceptives). It differs from HAE types 1 and 2 in that both

concentration and function of C1 inhibitor are normal

20/48 diseases for F12 (see all 48): About MalaCards

factor xii deficiency patent foramen ovale hereditary angioedema type iii factor xi deficiency

acalculous cholecystitis deep vein thrombosis angioedema hereditary angioedema

spastic paraplegia hereditary spastic paraplegia retinal vein occlusion blood clots

protein c deficiency venous thrombosis paraplegia cholecystitis

myocardial infarction thrombosis arterial calcification acute myocardial infarction

7 diseases from the University of Copenhagen DISEASES database for F12:

Factor XII deficiency Urticaria C1 inhibitor deficiency Thrombophilia

Factor XI deficiency Heart disease Hemorrhagic disease

10/12 Novoseek disease relationships for F12 gene (see all 12) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
factor xii deficiency	85.5	6	1550105 (1), 12876626 (1), 9856928 (1), 9473199 (1) (see all 6)
angioedema, hereditary	78.9	4	16638441 (1), 17186468 (1), 19474702 (1)
angioedema	51.4	4	19178938 (3)
thrombophilia	50.4	2	15116249 (1), 10650856 (1)
miscarriage recurrent	46.5	2	11821096 (1), 11438345 (1)
thrombosis	38.5	4	17982641 (1), 10650856 (1), 11755949 (1), 19786295 (1)
venous thrombosis	30.8	2	15116249 (1), 11755949 (1)
arterial thrombosis	26.2	1	17388965 (1)
thromboembolism	16.4	1	9856928 (1)
cerebrovascular disease	8.58	1	10669178 (1)

Genatlas disease: F12

Hageman factor deficiency,without bleeding diathesis

Genetic Association Database (GAD): F12
Human Genome Epidemiology (HuGE) Navigator: F12 (53 documents)

Export disorders for F12 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)
About This Section

PubMed articles for F12 gene, integrated from 9 sources (see all 211):
(articles sorted by number of sources associating them with F12)

Utopia: connect your pdf to the dynamic
world of online information

Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III. (PubMed id 17186468)^{1, 2, 9} Cichon S....Noethen M.M. (2006)
Missense mutations in the coagulation factor XII (Hageman factor) gene in hereditary angioedema with normal C1 inhibitor. (PubMed id 16638441)^{1, 2, 9} Dewald G. and Bork K. (2006)
Association after linkage analysis indicates that homozygosity for the 46C-->T polymorphism in the F12 gene is a genetic risk factor for venous thrombosis. (PubMed id 15116249)^{1, 4, 9} Tirado I....Fontcuberta J. (2004)
A common C-->T polymorphism at nt 46 in the promoter region of coagulation factor XII is associated with decreased factor XII activity. (PubMed id 11248286)^{1, 4, 9} Endler G....Quehenberger P. (2001)
Coagulation factor XII Locarno: the functional defect is caused by the amino acid substitution Arg-353-->Pro leading to loss of a kallikrein cleavage site. (PubMed id 8049433)^{1, 2, 9} Hovinga J.K....Laemmle B. (1994)
Coagulation factor XII activity, but not an associated common genetic polymorphism (46C/T),is linked to recurrent miscarriage. (PubMed id 11821096)^{1, 4, 9} Iinuma Y....Suzumori K. (2002)
The C46T polymorphism of the coagulation factor XII gene and idiopathic recurrent miscarriage. (PubMed id 16167952)^{1, 4, 9} Walch K....Unfried G. (2005)
Rapid detection of the 46C --> T polymorphism in the factor XII gene, a novel genetic risk factor for thrombosis, by melting peak analysis using fluorescence hybridization probes. (PubMed id 15000805)^{1, 4, 9} Tirado I....Soria J.M. (2003)
Histidine-rich glycoprotein binds factor XIIa with high affinity and inhibits contact-initiated coagulation. (PubMed id 21304106)^{1, 2} Macquarrie J.L.... Weitz J.I. (2011)
Role of thrombophilic gene polymorphisms in branch retinal vein occlusion. (PubMed id 16157382)^{1, 4} Weger M....Haas A. (2005)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 2161	HGNC: 3530	AceView: F12	Ensembl:ENSG00000131187	euGenes: HUgn2161
ECgene: F12	Kegg: 2161	H-InvDB: F12

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for F12	Pharmacogenomics, SNPs, Pathways
Wikipedia	http://en.wikipedia.org/wiki/Factor_XII
F12base	http://bioinf.uta.fi/F12base/
SeattleSNPs	http://pga.gs.washington.edu/data/f12/

Intellectual Property for F12 gene
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Patent Information for F12 gene:
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GeneCards and IP:
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coagulation factor XII (Hageman factor)

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F12 Gene

coagulation factor XII (Hageman factor)

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