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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

F8 Gene

protein-coding GIFtS: 67
GCID: GC0XM154064

coagulation factor VIII, procoagulant component

(Previous symbol: F8C)

Explore 156 diseases affiliated with
F8 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 VIII, Procoagulant Component¹ ²		AHF² ³
F8C¹ ² ³		F8B²
DXS1253E¹ ²		Coagulation Factor VIII²
FVIII¹ ²		Coagulation Factor VIIIc²
HEMA¹ ²		Factor VIII F8B²
Antihemophilic Factor² ³		Procoagulant Component³

External Ids:	HGNC: 3546¹	Entrez Gene: 2157²	Ensembl: ENSG00000185010⁷	OMIM: 300841⁵	UniProtKB: P00451³

Export aliases for F8 gene to outside databases

Previous GC identifers: GC0XM148127 GC0XM150444 GC0XM151651 GC0XM152532 GC0XM153627 GC0XM153717 GC0XM142607

(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 F8:

This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor

VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated

form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein,

isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein

undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists

primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity.

Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. (provided by RefSeq,

Jul 2008)

UniProtKB/Swiss-Prot: FA8_HUMAN, P00451

Function: Factor VIII, along with calcium and phospholipid, acts as a cofactor for factor IXa when it converts factor X

to the activated form, factor Xa

Gene Wiki entry for F8 (Factor VIII)

(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_000023.10 NC_018934.1 NT_167198.1

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the F8 gene promoter:
GR GR-beta Nkx2-5 GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): F8 promoter sequence

Search SABiosciences Chromatin IP Primers for F8

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat F8

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

Entrez Gene cytogenetic band: Xq28 Ensembl cytogenetic band: Xq28 HGNC cytogenetic band: Xq28

F8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
F8 gene location

GeneLoc information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM154064: view genomic region (about GC identifiers)

Start:	154,064,063 bp from pter	End:	154,255,215 bp from pter
Size:	191,153 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: FA8_HUMAN, P00451 (See protein sequence)

Recommended Name: Coagulation factor VIII precursor

Size: 2351 amino acids; 267009 Da

Subunit: Interacts with vWF. vWF binding is essential for the stabilization of F8 in circulation

Subcellular location: Secreted, extracellular space

Mass spectrometry: Mass=1367.6; Method=Electrospray; Range=356-378; Note=Nonsulfated; Source=PubMed:10368977;

Mass spectrometry: Mass=1407.4; Method=Electrospray; Range=356-378; Note=Sulfated; Source=PubMed:10368977;

Mass spectrometry: Mass=2975.4; Method=Electrospray; Range=400-424; Note=Nonsulfated; Source=PubMed:10368977;

Mass spectrometry: Mass=3024; Method=Electrospray; Range=727-752; Note=Nonsulfated; Source=PubMed:10368977;

Mass spectrometry: Mass=3104; Method=Electrospray; Range=727-752; Note=Monosulfated; Source=PubMed:10368977;

Mass spectrometry: Mass=3183.5; Method=Electrospray; Range=727-752; Note=Disulfated; Source=PubMed:10368977;

Mass spectrometry: Mass=3262.5; Method=Electrospray; Range=727-752; Note=Trisulfated; Source=PubMed:10368977;

Mass spectrometry: Mass=2460.9; Method=Electrospray; Range=1672-1692; Note=Nonsulfated; Source=PubMed:10368977;

Mass spectrometry: Mass=2540.7; Method=Electrospray; Range=1672-1692; Note=Sulfated; Source=PubMed:10368977;

Mass spectrometry: Mass=2000.7; Method=Electrospray; Range=1691-1708; Note=Nonsulfated; Source=PubMed:10368977;

Mass spectrometry: Mass=2080.7; Method=Electrospray; Range=1691-1708; Note=Sulfated; Source=PubMed:10368977;

6/9 PDB 3D structures from and Proteopedia for F8 (see all 9):

1CFG (3D)

1D7P (3D)

1FAC (3D)

1IQD (3D)

2R7E (3D)

3CDZ (3D)

Secondary accessions: Q14286 Q5HY69

Alternative splicing: 2 isoforms: P00451-1 P00451-2

Explore the universe of human proteins at neXtProt for F8: NX_P00451

Post-translational modifications:

Sulfation on Tyr-1699 is essential for binding vWF¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P00451

F8 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_000123.1 NP_063916.1

ENSEMBL proteins:

ENSP00000327895 ENSP00000353393 ENSP00000409446 ENSP00000389153

Reactome Protein details: P00451
Human Recombinant Protein Products:

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	Uscn Proteins for F8

Gene Ontology (GO): 4 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	IEA	--
GO:0005886	plasma membrane	TAS	--
GO:0031093	platelet alpha granule lumen	TAS	--

F8 for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for F8

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

F8 for domains About GeneDecksing

5/9 InterPro domains/families (see all 9):

IPR024715 Factor_5/8

IPR011707 Cu-oxidase_3

IPR008979 Galactose-bd-like

IPR014707 Factor_8

IPR011706 Cu-oxidase_2

Graphical View of Domain Structure for InterPro Entry P00451

ProtoNet protein and cluster: P00451

3 Blocks protein families:

IPB000421 Coagulation factor 5/8 type C domain (FA58C)

IPB001117 Multicopper oxidase

IPB011706 Multicopper oxidase

UniProtKB/Swiss-Prot: FA8_HUMAN, P00451

Domain: Domain F5/8 type C 2 is responsible for phospholipid-binding and essential for factor VIII activity

Similarity: Belongs to the multicopper oxidase family

Similarity: Contains 3 F5/8 type A domains

Similarity: Contains 2 F5/8 type C domains

Similarity: Contains 6 plastocyanin-like domains

(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: FA8_HUMAN, P00451

Function: Factor VIII, along with calcium and phospholipid, acts as a cofactor for factor IXa when it converts factor X

to the activated form, factor Xa

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		hsa-miR-4291 hsa-miR-1290 hsa-miR-539 hsa-miR-548aa hsa-miR-214 hsa-miR-542-3p hsa-miR-3121-3p hsa-miR-297

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In Situ Assay
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Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for F8

Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005507	copper ion binding	IEA	--
GO:0005515	protein binding	IPI	7756647
GO:0016491	oxidoreductase activity	IEA	--

F8 for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for F8:

Increased cell death HMECs cel

Animal Models:
Mouse knock-outs for F8: F8^tm1Kaz F8^tm2Kaz
5 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for F8):

hematopoietic system

homeostasis/metabolism

immune system

mortality/aging

reproductive system

F8 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 - 5/6 super-pathways (see all 6) 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

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

Complement and coagulation cascades

Complement and coagulation cascades

1.00

Complement and Coagulation Cascades

0.72

Platelet activation, signaling and aggregation

Platelet activation, signaling and aggregation

1.00

Hemostasis

0.43

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for F8

Selected targets of HNF1

1 R&D Systems Pathway for F8

Blood Coagulation Signaling Pathways

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for F8

	Blood Coagulation Cascade
	Intrinsic Prothrombin Activation Pathway

2 BioSystems Pathways for F8

	Blood Clotting Cascade
	Complement and Coagulation Cascades

5/6 Reactome Pathways for F8 (see all 6)

	Hemostasis
	Formation of Fibrin Clot (Clotting Cascade)
	Platelet degranulation
	Intrinsic Pathway
	Platelet activation, signaling and aggregation

1 Kegg Pathway (Kegg details for F8):

Complement and coagulation cascades

F8 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for F8

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

5/60 Interacting proteins for F8 (P00451^{2, 3} ENSP00000353393⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 60)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
LRP1	Q07954³, ENSP00000243077⁴	I2D: score=3 STRING: ENSP00000243077
VWF	P04275³, ENSP00000261405⁴	I2D: score=3 STRING: ENSP00000261405
CALR	P27797³, ENSP00000320866⁴	I2D: score=2 STRING: ENSP00000320866
HSPA5	P11021³, ENSP00000324173⁴	I2D: score=2 STRING: ENSP00000324173
F2	P00734³, ENSP00000308541⁴	I2D: score=1 STRING: ENSP00000308541

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0002576	platelet degranulation	TAS	--
GO:0006953	acute-phase response	IEA	--
GO:0007155	cell adhesion	IEA	--
GO:0007596	blood coagulation	TAS	--
GO:0007597	blood coagulation, intrinsic pathway	TAS	--

F8 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

F8 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for F8
UniProtKB/Swiss-Prot: FA8_HUMAN, P00451

Pharmaceutical: Available under the names Kogenate (Bayer) and Recombinate (Baxter and American Home Products). Used to

treat hemophilia A

1 HMDB Compound for F8 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--

2 DrugBank Compounds for F8 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Coagulation Factor IX	Christmas factor (see all 4)	9001-28-9	target	cofactor	11150722 659613 16476097 12719776 14598591 12826528
Drotrecogin alfa	Anticoagulant protein C (see all 4)	60202-16-6	target	multitarget	18954704 11752352 9184404

10/95 Novoseek chemical compound relationships for F8 gene (see all 95) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
rfviii	94.3	104	1899619 (4), 8756394 (3), 11187864 (3), 12216115 (3) (see all 42)
kogenate	90.7	30	10979218 (3), 16926139 (2), 11380627 (1), 18416588 (1) (see all 15)
ristocetin	89.7	113	17586991 (3), 10744159 (2), 7572006 (2), 1703813 (1) (see all 79)
refacto	87.1	42	15102018 (4), 19298379 (4), 17610548 (4), 17286764 (4) (see all 10)
desmopressin	86.1	218	10929043 (8), 8322282 (5), 7819109 (5), 8874865 (5) (see all 82)
recombinate	85.4	13	1448776 (1), 11442642 (1), 17456190 (1), 1457586 (1) (see all 10)
helixate	76.1	4	18416588 (1)
fibrinogen	73.2	184	1585439 (5), 16362590 (3), 18289163 (3), 10886222 (3) (see all 99)
tributylphosphate	57.2	8	16507321 (2), 16756602 (2), 1697997 (1)
rituximab	49.6	12	17212724 (3), 19320828 (2), 12384448 (1), 18414981 (1) (see all 9)

Search CenterWatch for drugs/clinical trials and news about F8 / FA8

(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 F8 gene (2 alternative transcripts):

NM_000132.3 NM_019863.2

Unigene Cluster for F8:

Coagulation factor VIII, procoagulant component

Hs.654450 [show with all ESTs]

Unigene Representative Sequence: NM_000132

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

ENST00000330287(uc004fms.3) ENST00000360256(uc010nvi.1 uc004fmt.3)

ENST00000483822 ENST00000423959(uc011mzx.1) ENST00000453950

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Additional cDNA sequence:

AK289947.1 AK292902.1 AK295164.1 AK307726.1 AK313707.1 BC022513.1 BC064380.1 BC098389.1

BC111967.1 BC111969.1 BC150305.1 FN811132.1 JF916726.1 K01740.1 M14113.1 M90707.1

X01179.1

8 DOTS entries:

DT.95361537 DT.442566 DT.100742082 DT.100030151 DT.121312596 DT.454648 DT.91729072 DT.95206260

24/86 AceView cDNA sequences (see all 86):

BX501434 BQ548655 M90707 X01179 BC064380 BQ880871 NM_019863 CK826280

F12385 CB054305 BX951926 BX280670 M14113 BX489830 CD557999 D45586

NM_000132 CA389921 BQ548947 BQ721191 BC022513 BU855229 AI760509 AI918039

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

F8 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: AAGACGTACC

About this image
See F8 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for F8

SOURCE GeneReport for Unigene cluster: Hs.654450

SABiosciences Expression via Pathway-Focused PCR Arrays including F8:

NFKB Signaling Targets in human mouse rat

Lymphoma in human mouse rat

Inflammatory Response & Autoimmunity 384HT 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 chordates.

Orthologs for F8 gene from 3/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	F8¹	coagulation factor VIII, procoagulant component	62.36(n) 58.57(a)		422199 XM_420193.3 XP_420193.3
lizard (Anolis carolinensis)	Reptilia	F8⁶	--	37(a)	1 ↔ 1	GL343528.1(344257-377523)
zebrafish (Danio rerio)	Actinopterygii	f8¹	coagulation factor VIII, procoagulant component	52.94(n) 46.37(a)		100302404 XM_002664261.2 XP_002664307.2

ENSEMBL Gene Tree for F8 (if available)
TreeFam Gene Tree for F8 (if available)

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

Paralogs for F8 gene

HEPHL1² CP² F5² HEPH²

12 SIMAP similar genes for F8 using alignment to 52 protein entries: FA8_HUMAN (see all proteins):

F8A1 F8C F8c SPAG10 MFGE8 F5

factor V RS1 CP HEPHL1 HEPH EDIL3

F8 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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SNP ID	Valid	Clinical significance	Chr X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs1050705^1,2	C,F,O,A,H,	non-pathogenic	154064200(-)	`AACTTA/GATAAT`	3	--	ut3¹ us2k¹		29		NA EA MN NS EU WA CSA	2732
rs1800297^1,2	C,F,H,	non-pathogenic	154088838(-)	`AGACAA/GTGAAA`	4	M V	mis¹		32		MN NA NS EA EU CSA	7578
rs1800292^1,2	C,F,	non-pathogenic	154158201(-)	`TTCTCA/CAAAAA`	2	S	syn¹		13	--	NS NA EU MN	5157
rs1800291^1,2	C,F,O,H,	non-pathogenic	154158285(-)	`TATGAC/GGGGGC`	2	D E	mis¹ ese³		26		NA EA NS EU MN WA	6337
rs111033615^1,2	C	pathogenic	154132279(-)	`CATGGA/GCAGCA`	2	D G	mis¹		0	--	--	--	--
rs28937294^1,2	C	pathogenic	154132300(-)	`GATTCA/G/TATGGT`	3	Q R L	mis¹		2		NA	4
rs28933682^1,2	C	pathogenic	154132357(-)	`AATCAA/GTGGCT`	2	N S	mis¹ ese³		2		NA	4
rs28933681^1,2	C	pathogenic	154132676(-)	`TTGATG/AAGACC`	2	/K /E	mis¹ ese³		2		NA	4
rs28933680^1,2	C	pathogenic	154132768(-)	`TGGACC/GCCTTC`	2	P R	mis¹ ese³		1		NA	2
rs28933679^1,2	C	pathogenic	154132786(-)	`TGTGCA/GCTCAG`	2	H R	mis¹ ese³		2		NA	4

HapMap Linkage Disequilibrium report for F8 (154064063 - 154255215 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for F8
4 CNVs: 97109 97110 23331 83872
1 Indel: 83871
Human Gene Mutation Database (HGMD): F8

Locus Specific Mutation Databases (LSDB): F8

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing F8

DNA2.0 Custom Variant and Variant Library Synthesis for F8

(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

F8 for disorders About GeneDecksing

OMIM gene information: 300841 OMIM disorders: --

UniProtKB/Swiss-Prot: FA8_HUMAN, P00451

Defects in F8 are the cause of hemophilia A (HEMA) [MIM:306700]. A disorder of blood coagulation characterized

by a permanent tendency to hemorrhage. About 50% of patients have severe hemophilia resulting in frequent spontaneous

bleeding into joints, muscles and internal organs. Less severe forms are characterized by bleeding after trauma or

surgery. Note=Of particular interest for the understanding of the function of F8 is the category of CRM

(cross-reacting material) positive patients (approximately 5%) that have considerable amount of F8 in their plasma (at

least 30% of normal), but the protein is non-functional; i.e. the F8 activity is much less than the plasma protein

level. CRM-reduced is another category of patients in which the F8C antigen and activity are reduced to approximately

the same level. Most mutations are CRM negative, and probably affect the folding and stability of the protein

20/156 diseases for F8 (see all 156): About MalaCards

hemophilia von willebrand's disease disseminated intravascular coagulation factor viii deficiency

factor v and factor viii deep vein thrombosis portal vein thrombosis spinal cord injury

glanzmann's thrombasthenia type 3 von willebrand disease type 1 von willebrand disease cardiac tamponade

acquired von willebrand syndrome retinal vein occlusion central retinal vein occlusion argentine hemorrhagic fever

factor xi deficiency factor xii deficiency hypersensitivity reaction type ii disease fournier gangrene

20/27 diseases from the University of Copenhagen DISEASES database for F8 (see all 27):

Von Willebrand's disease Factor XI deficiency Factor VIII deficiency Hemophilia B

Thrombophilia Sarcoma Vascular disease Hepatitis

Arthropathy Hemangioma Vascular cancer Thrombocytopenia

Lymphangioma Hepatitis A Kaposi's sarcoma Human immunodeficiency virus infectious disease

Carcinoma Heart disease Hypersensitivity reaction type II disease Hepatitis B

10/94 Novoseek disease relationships for F8 gene (see all 94) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hemophilia a	97.6	760	19509468 (4), 19937483 (4), 16038719 (4), 16522813 (4) (see all 99)
von willebrand disease	94	100	8236134 (3), 1918030 (2), 12353065 (2), 2124499 (1) (see all 83)
f5f8d	86.8	19	19598067 (2), 19141160 (2), 17610559 (2), 16044454 (1) (see all 10)
coagulopathy	86.7	154	10444282 (2), 8500791 (1), 9335047 (1), 10773919 (1) (see all 99)
bleeding	79.5	342	19143924 (4), 1746594 (3), 11554946 (3), 15166918 (3) (see all 99)
hemarthrosis	75.7	10	19473418 (2), 17212730 (1), 19995408 (1), 15569163 (1) (see all 8)
bleeding tendency	75.4	11	19763351 (1), 10517121 (1), 19506363 (1), 10608727 (1) (see all 10)
hemophilia b	73.4	10	17596134 (1), 10498242 (1), 10517121 (1), 16051741 (1) (see all 8)
thrombophilia	69	27	18304616 (2), 18766260 (2), 15735796 (2), 17059421 (1) (see all 18)
inherited coagulation disorders	68.3	5	11735604 (1), 10446919 (1), 16670069 (1), 12109144 (1)

GeneTests: F8

Hemophilia A

Genetic Association Database (GAD): F8
Human Genome Epidemiology (HuGE) Navigator: F8 (109 documents)

Export disorders for F8 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 F8 gene, integrated from 9 sources (see all 1517):
(articles sorted by number of sources associating them with F8)

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

Characterization of the polypeptide composition of human factor VIII:C and the nucleotide sequence and expression of the human kidney cDNA. (PubMed id 3935400)^{1, 2, 3} Truett M.A.... Ezban M. (1985)
Molecular cloning of a cDNA encoding human antihaemophilic factor. (PubMed id 6438528)^{1, 2, 3} Toole J.J....Hewick R.M. (1984)
A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor. (PubMed id 10910910)^{1, 2, 9} Jacquemin M.... Saint-Remy J.-M.R. (2000)
Female haemophilia A heterozygous for a de novo frameshift and a novel missense mutation of factor VIII. (PubMed id 16805874)^{1, 2, 9} Cai X.-H....Wang H.-L. (2006)
The ABO blood group genotype and factor VIII levels as independent risk factors for venous thromboembolism. (PubMed id 15735796)^{1, 4, 9} Tirado I....Fontcuberta J. (2005)
Experience of a single Italian center in genetic counseling for hemophilia: from linkage analysis to molecular diagnosis. (PubMed id 10800171)^{1, 2, 9} Tagariello G.... Davoli P. (2000)
Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites. (PubMed id 18184865)^{1, 2, 9} Vencesla A....Tizzano E.F. (2008)
The factor VIII D1241E polymorphism is associated with decreased factor VIII activity and not with activated protein C resistance levels. (PubMed id 15735794)^{1, 4, 9} Scanavini D....Bernardi F. (2005)
Genotype and phenotype of haemophilia A in Thai patients. (PubMed id 12614369)^{1, 2, 9} Yenchitsomanus P.... Mahasandana C. (2003)
The identification and classification of 41 novel mutations in the factor VIII gene (F8C). (PubMed id 11857744)^{1, 2, 9} Cutler J.A.... Savidge G.F. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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		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)
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Entrez Gene: 2157	HGNC: 3546	AceView: F8	Ensembl:ENSG00000185010	euGenes: HUgn2157
ECgene: F8	Kegg: 2157	H-InvDB: F8

(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 F8	Pharmacogenomics, SNPs, Pathways
Wikipedia	http://en.wikipedia.org/wiki/Factor_VIII
HAMSters	http://hadb.org.uk/WebPages/Main/main.htm
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/F8
SeattleSNPs	http://pga.gs.washington.edu/data/f8/

Intellectual Property for F8 gene
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Patent Information for F8 gene:
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GeneCards and IP:
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F8 Gene

coagulation factor VIII, procoagulant component

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Pregnancy loss
Cardiac Tamponade
Hemorrhagic diseases
ABNORMAL PLATELETS
Myelofibrosis
coagulopathy
Cystic Fibrosis
Allergic Reaction
F5F8D
Purpura Thrombotic Thrombocytopenic
TRANSFUSION REACTION
Antiphospholipid Syndrome
Hypercholesterolemia
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platelet disorder
disability
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arthropathy
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F8 Gene

coagulation factor VIII, procoagulant component

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