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F8 Gene

protein-coding GIFtS: 63

GC0XM153717

coagulation factor VIII, procoagulant component
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: F8C)

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

Aliases
AHF ^², ³
DXS1253E ^¹, ²
F8B ^²
F8C ^², ³, ⁵
FVIII ^¹, ²
HEMA ^¹, ², ⁵
OTTHUMP00000061446 ^²
OTTHUMP00000196174 ^²

Descriptions
Antihemophilic factor ^³
Procoagulant component ^³
coagulation factor VIII ^²
coagulation factor VIII, procoagulant component ^²
coagulation factor VIIIc ^²
factor VIII F8B ^²

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

Search outside databases for aliases for F8 gene

Previous GC identifers: GC0XM148127 GC0XM150444 GC0XM151651 GC0XM152532 GC0XM153627

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

EntrezGene 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]

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 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the F8 gene

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)

GeneLoc gene densities for chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XM153717: (about GC identifiers)

Start:	153,717,257 bp from pter
End:	153,904,192 bp from pter
Size:	186,936 bases
Orientation:	minus strand

RefSeq DNA sequence:

NC_000023.9 NT_011726.13

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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;

PDB structures from and Proteopedia :

1CFG (3D)

1D7P (3D)

1FAC (3D)

1IQD (3D)

2R7E (3D)

3CDZ (3D)

Post-translational modifications:

Sulfation on Tyr-1699 is essential for binding vWF¹

REFSEQ proteins (2 alternative transcripts):

NP_000123.1 NP_063916.1

ENSEMBL proteins:

ENSP00000353393 ENSP00000327895 ENSP00000377152

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (Factor VIII + VIII A2domain, Factor VIII beta domain, Factor VIII heavy chain, Factor VIII, Factor VIII light chain)
	Human Recombinant Proteins from Abnova (F8)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	NAS	14718574
GO:0005886	plasma membrane	EXP	2110473 8626656
GO:0031093	platelet alpha granule lumen	EXP	501196

About this table

Antibodies for F8:

	Invitrogen Antibodies for F8
	Millipore Mono- and Polyclonal Antibodies for the study of F8
	Sigma-Aldrich Antibodies for F8
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (Factor VIII + VIII A2domain, Factor VIII beta domain, Factor VIII heavy chain, Factor VIII, Factor VIII light chain), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (F8)
	Novus Biologicals Antibodies for F8

Assays for F8:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

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

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 MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (F8)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (F8)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000132

Applied Biosystems Silencer® siRNAs for F8

Sigma-Aldrich siRNA and siRNA Panels for F8

Sigma-Aldrich shRNA for F8

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Browse Clone Ranger at Invitrogen for clones
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000132
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000132
untagged cDNA clones in CMV expression vector (see all 2): NM_000132

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000132

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

1 MGI mutant phenotype (inferred from 2 alleles) (MGI details for F8):

homeostasis/metabolism

4 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005507	copper ion binding	IEA	--
GO:0005509	calcium ion binding	IEA	--
GO:0005515	protein binding	IPI	7756647
GO:0016491	oxidoreductase activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

2 Sigma-Aldrich "Your Favorite Gene" Pathways for F8 (Your Favorite Gene powered by Ingenuity)

Acute Phase Response Signaling
Coagulation System

GeneDecks F8 for the pathways selected above

About GeneDecksing

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

5/70 Interacting proteins for F8 (ENSP00000327895³ P00451²) via UniProtKB, MINT, and/or STRING (see all 70 )

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
IGKV3-20	P18135²	MINT-24963
F9	ENSP00000218099³	STRING (score=.999)
VWF	ENSP00000261405³	STRING (score=.999)
F10	ENSP00000364709³	STRING (score=.998)
GP1BA	ENSP00000329380³	STRING (score=.996)

About this table

3 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006953	acute-phase response	IEA	--
GO:0007155	cell adhesion	IEA	--
GO:0007596	blood coagulation	TAS	8275087

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Sigma-Aldrich Small Molecules for F8:

Inhibitor

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

10/48 Novoseek chemical compound relationships for F8 gene (see all 48 )

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
fibrinogen	72.07	160	1585439 (5), 16362590 (3), 18289163 (3), 10886222 (3) (see all 99)
tributylphosphate	59.09	8	16507321 (2), 16756602 (2), 1697997 (1)
phospholipid	48.63	81	10583219 (5), 11830468 (3), 10881749 (3), 8999906 (2) (see all 38)
hind iii	29.44	4	7971753 (1), 1977469 (1), 11927134 (1)
xbai	27.77	4	7971753 (1), 1685886 (1), 1839260 (1), 7910050 (1)
deae-sephadex a-50	26.15	1	2111329 (1)
hema	25.56	43	2034217 (8), 8468290 (8), 9239887 (4), 9226269 (2) (see all 7)
amino acid	19.61	6	1902121 (3), 9864159 (1)
cacl2	15.82	7	16898961 (2), 10410309 (1), 1390241 (1)
methylene	14.64	3	10413283 (1), 11846153 (1), 10886222 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (F8)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (F8)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000132

Sigma-Aldrich siRNA and siRNA Panels for F8

Sigma-Aldrich shRNA for F8

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000132 NM_019863

REFSEQ mRNAs for F8 gene (2 alternative transcripts):

NM_000132.3 NM_019863.2

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000132 NM_019863

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000132
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000132
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_000132

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 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 ):

CA389921 BX951926 BX489830 BQ880871 D45586 BQ548655 CB054305 BQ548947

NM_000132 BC064380 BU855229 F12385 BQ721191 CK826280 NM_019863 BX501434

CD557999 BC022513 M90707 M14113 BX280670 X01179 AI741123 AW043572

highest scoring ESTs for F8:

M14113 AL698307 K01740 X01179 AA426469 AA436701 AA437191 AA442504 AA633595 AA808551

Unigene Cluster for F8:

Coagulation factor VIII, procoagulant component

Hs.654450 [show with all ESTs]

Unigene Representative Sequence: NM_000132

GeneLoc Exon Structure

3 Ensembl transcripts including schematic representations:

ENST00000360256 ENST00000330287 ENST00000393517

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

F8 expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for F8

¹ / ² / ³

3 probe-sets matching F8 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
37550_at²^{, 3}	U95-A	1	1.00	1.00	1.00	1.00	M14113	1.00	0.90	0.95	1
205756_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	NM_000132	0.60	1.00	0.82	1
205756_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--

GeneDecks F8 for binary patterns associated with the probe-sets selected above

About GeneDecksing

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Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: GAACTAGCTC

SOURCE GeneReport for Unigene cluster: Hs.654450
Expression variation in blood from EXPOLDB for F8

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for F8 gene from 4 species

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	F8¹	--	coagulation factor VIII, procoagulant component	85.25(n) 77.57(a)	403875 NM_001003212.1 NP_001003212.1
rat (Rattus norvegicus)	F8¹	--	coagulation factor VIII, procoagulant component	65.29(n) 57.05(a)	302470 NM_183331.1 NP_899160.1
mouse (Mus musculus)	F8^{1, 5}	X (30.50 cM)⁵	coagulation factor VIII^{1, 5}	81.88(n)¹ 73.97(a)¹	14069¹ NM_007977.1¹ NP_032003.1¹ AJ627040⁵ AK051579⁵ (see all 11)
chicken (Gallus gallus)	F8¹	--	coagulation factor VIII, procoagulant component	62.3(n) 58.51(a)	422199 XM_420193.2 XP_420193.2

About this table Species with no ortholog for F8

ENSEMBL Gene Tree for F8

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

Paralogs for F8 gene

F5²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/614 NCBI SNPs in F8 are shown (see all 614 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 206)

AB	SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs1800291^1,2	C,F,H,O	153811479(-)	`TATGAC/GGGGGC`	1	D/E	mis¹ ese³		22	NA EA EU WA NS MN	1783
	rs1800297^1,2	C,F,H	153742032(-)	`AGACAA/GTGAAA`	2	M/V	mis¹		22	MN NA NS EU EA WA	1848
	rs4898404^1,2	C,F,H	153904685(+)	`atcctC/Tcaatg`	1	--	ng3¹		7	EU EA WA NS MN	669
	rs2228152^1,2	C,F,H	153812876(-)	`CACACA/GGAACA`	1	R/G	mis¹ ese³		4	MN EU	410
--	rs4520342^1,2	C,H	153785814(+)	`ATATTG/CGAGGG`	1	W/C	mis¹		3	EA WA	290
--	rs28370190^1,2	C,F	153905017(-)	`AGGTGG/AGGGTA`	1	--	ng3¹		3	NS EU MN	260
--	rs28370191^1,2	C,F	153905016(-)	`GGTGGG/AGGTAA`	1	--	ng3¹		3	NS EU MN	260
--	rs4384155^1,2	C,H	153785815(+)	`TATTCC/GAGGGA`	1	C/S	mis¹		4	EU EA WA	418
--	rs34228588^1,2	F	153904577(-)	`TAAAA-/ATACAG`	1	--	ng3¹		2	EU MN	226
--	rs28370192^1,2	F	153904340(-)	`CCTCCT/-TTCCT`	1	--	ng3¹ trp³		1	NS	37

About this table

HapMap Linkage Disequilibrium images for F8 (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 306700

UniProtKB/Swiss-Prot: FA8_HUMAN, P00451

Defects in F8 are the cause of hemophilia A (HEMA) [MIM:306700]. HEMA is a common

recessive X-linked coagulation disorder. The frequency of hemophilia A is 1-2 in 10,000 male

births in all ethnic groups. About 50% of patients have severe hemophilia A with F8C activity less

than 1% of normal; they have frequent spontaneous bleeding into joints, muscles and internal

organs. Moderately severe hemophilia A occurs in about 10% of patients; F8C activity is 2-5% of

normal, and there is bleeding after minor trauma. Mild hemophilia A, which occurs in 30-40% of

patients, is associated with F8C activity of 5-30% and bleeding occurs only after significant

trauma or surgery. Of particular interest for the understanding of the function of F8C is the

category of CRM (cross-reacting material) positive patients (approximately 5%) that have

considerable amount of F8C in their plasma (at least 30% of normal), but the protein is

non-functional; i.e., the F8C 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

10/95 Novoseek disease relationships for F8 gene (see all 95 )

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
hemophilia a	97.40	623	16038719 (4), 19220731 (4), 16522813 (4), 9427707 (3) (see all 99)
von willebrand disease	93.88	87	8236134 (3), 1918030 (2), 12353065 (2), 2124499 (1) (see all 72)
coagulopathy	86.05	132	10444282 (2), 8500791 (1), 9335047 (1), 10773919 (1) (see all 99)
f5f8d	83.90	13	19141160 (2), 17610559 (2), 16044454 (1), 18685427 (1) (see all 7)
bleeding	78.91	287	19143924 (4), 1746594 (3), 11554946 (3), 15166918 (3) (see all 99)
bleeding tendency	73.32	7	10517121 (1), 10608727 (1), 17164493 (1), 16977574 (1) (see all 6)
hemophilia b	71.45	8	17596134 (1), 10498242 (1), 10517121 (1), 16051741 (1) (see all 6)
hemarthrosis	71.34	6	17212730 (1), 15569163 (1), 19143924 (1), 12199681 (1) (see all 5)
thrombophilia	69.05	25	18304616 (2), 18766260 (2), 15735796 (2), 17059421 (1) (see all 17)
prolonged bleeding time	69.01	13	9881332 (1), 11601234 (1), 7690994 (1), 8193357 (1) (see all 12)

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GeneTests: F8

Hemophilia A

Human Gene Mutation Database: F8
Genetic Association Database: F8
Human Genome Epidemiology Navigator: F8 (79 documents)

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/1170 PubMed articles for F8 gene (see all 1170 ):

Characterization of the polypeptide composition of human factor VIII:C and the nucleotide sequence and expression of the human kidney cDNA. (PubMed id 3935400)^{2, 3, 4} Truett M.A....Merryweather J.P. (1985)
Molecular cloning of a cDNA encoding human antihaemophilic factor. (PubMed id 6438528)^{2, 3, 4} 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, 3, 4} 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, 3, 4} 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, 3, 6} 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, 3, 4} Tagariello G.... Davoli P. (2000)
The factor VIII D1241E polymorphism is associated with decreased factor VIII activity and not with activated protein C resistance levels. (PubMed id 15735794)^{1, 3, 6} Scanavini D....Bernardi F. (2005)
Identification of factor VIII gene mutations in 101 patients with haemophilia A: mutation analysis by inversion screening and multiplex PCR and CSGE and molecular modelling of 10 novel missense substitutions. (PubMed id 16128892)^{1, 3, 6} Jayandharan G....Srivastava A. (2005)
Genotype and phenotype of haemophilia A in Thai patients. (PubMed id 12614369)^{1, 3, 4} Yenchitsomanus P.... Mahasandana C. (2003)
The identification and classification of 41 novel mutations in the factor VIII gene (F8C). (PubMed id 11857744)^{1, 3, 4} Cutler J.A.... Savidge G.F. (2002)

(in PubMed, OMIM, and NCBI Bookshelf)
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 2157	HGNC: 3546	AceView: F8	Ensembl:ENSG00000185010	euGenes: HUgn2157
ECgene: F8	H-InvDB: F8

(According to HUGE)
About This Section

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

Name	Description
Wikipedia	http://en.wikipedia.org/wiki/Factor_VIII
HAMSters	http://europium.csc.mrc.ac.uk/WebPages/Main/main.htm
GeneReviews	http://www.genetests.org/query?gene=F8
SeattleSNPs	http://pga.gs.washington.edu/data/f8/

Licensable Technologies for F8
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for F8:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for F8-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for F8		Antibodies for F8
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for F8		Small molecules for F8
	"Your Favorite Gene" Pathways		feedback

	Antibodies		Primer Pairs
	Cell Culture Products		ELISAs
	Flow Cytometry Kits		Protease Activity Assays & Reagents
	Cell Selection/Detection Kits & Reagents		ELISA/Assay Development Kits & Reagents
	Multiplex/Array Assay Kits & Reagents		ELISpot Kits & Development Modules
	Recombinant & Natural Proteins

	Recombinant Proteins (F8)
	Antibodies (F8)
	Chimera RNAi (F8)
	Custom Service for Mouse Mab
	Custom Service for Rabbit Pab from Full-length Protein

Search for Antibodies & Assays

	Recombinant Proteins (Factor VIII + VIII A2domain, Factor VIII beta domain, Factor VIII heavy chain, Factor VIII, Factor VIII light chain)
	Antibodies (Factor VIII + VIII A2domain, Factor VIII beta domain, Factor VIII heavy chain, Factor VIII, Factor VIII light chain)

Search OriGene for F8

Search Tocris compounds for F8

Search www.enzolifesicences.com for proteins, assays, substrates, inhibitors & antibodies

Antibodies for F8

GeneCards Homepage - Last full update: 2 Jul 2009 Incremental update: 13 Oct 2009

Random Gene From GIFtS :

about GIFtS

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Developed at the Crown Human Genome Center & Weizmann Institute of Science

The GeneCards Human Gene Database: Copyright © 1996-2009, Weizmann Institute of Science. All Rights Reserved.
F8 Gene at Home site.
Version 2.41.1
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F8 Gene

protein-coding GIFtS: 63

Aliases &
Descriptions
for F8

Summaries
for F8

Genomic Location
for F8

Proteins
for F8

Protein Domains/
Families
for F8

Gene Function
for F8

Pathways & Interactions
for F8

Drugs & Compounds
for F8

Transcripts
for F8

Expression
for F8

Orthologs
for F8

Paralogs
for F8

SNPs/Variants
for F8

Disorders & Mutations
for F8

Medical News
for F8

Publications
for F8

Search for F8

Genome Databases showing F8

Other Databases showing F8

Specialized Databases showing F8

Licensable Technologies
for F8

Services
for F8

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

F8 Gene

protein-coding GIFtS: 63

Aliases & Descriptionsfor F8

Summariesfor F8

Genomic Locationfor F8

Proteinsfor F8

Protein Domains/Familiesfor F8

Gene Functionfor F8

Pathways & Interactionsfor F8

Drugs & Compoundsfor F8

Transcriptsfor F8

Expression for F8

Orthologsfor F8

Paralogsfor F8

SNPs/Variantsfor F8

Disorders & Mutationsfor F8

Medical Newsfor F8

Publicationsfor F8

Search for F8

Genome Databases showing F8

Other Databases showing F8

Specialized Databases showing F8

Licensable Technologiesfor F8

Servicesfor F8

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for F8

Summaries
for F8

Genomic Location
for F8

Proteins
for F8

Protein Domains/
Families
for F8

Gene Function
for F8

Pathways & Interactions
for F8

Drugs & Compounds
for F8

Transcripts
for F8

Expression
for F8

Orthologs
for F8

Paralogs
for F8

SNPs/Variants
for F8

Disorders & Mutations
for F8

Medical News
for F8

Publications
for F8

Licensable Technologies
for F8

Services
for F8