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F9 Gene

protein-coding GIFtS: 70

GC0XP127880

coagulation factor IX
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

		Products

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

Aliases & Descriptions
coagulation factor IX¹ ²		MGC129641²
FIX¹ ²		MGC129642²
Plasma thromboplastin component² ³		factor 9²
Christmas factor² ³		plasma thromboplastic component²
PTC² ³		EC 3.4.21.22³
HEMB² ⁵

External Ids:	HGNC: 3551¹	Entrez Gene: 2158²	Ensembl: ENSG00000101981⁷	UniProtKB: P00740³

Export aliases for F9 gene to outside databases

Previous GC identifers: GC0XP133196 GC0XP135470 GC0XP136557 GC0XP137318 GC0XP138338 GC0XP138440 GC0XP138612

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

Entrez Gene summary for F9:

This gene encodes vitamin K-dependent coagulation factor IX that circulates in the blood as an inactive zymogen. This

factor is converted to an active form by factor XIa, which excises the activation peptide and thus generates a heavy

chain and a light chain held together by one or more disulfide bonds. The role of this activated factor IX in the

blood coagulation cascade is to activate factor X to its active form through interactions with Ca+2 ions, membrane

phospholipids, and factor VIII. Alterations of this gene, including point mutations, insertions and deletions, cause

factor IX deficiency, which is a recessive X-linked disorder, also called hemophilia B or Christmas disease. (provided

by RefSeq)

UniProtKB/Swiss-Prot: FA9_HUMAN, P00740

Function: Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood

coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipids, and factor VIIIa

Gene Wiki entry for F9 (Factor IX)

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the F9 gene promoter:
         MRF-2   ATF-2   C/EBPbeta   STAT1alpha   STAT1beta   STAT2   STAT3   STAT4   STAT5A   STAT5B
         Other transcription factors

Search SABiosciences Chromatin IP Primers for F9

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays

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

Entrez Gene cytogenetic band: Xq27.1-q27.2 Ensembl cytogenetic band: Xq27.1 HGNC cytogenetic band: Xq26.3-q27.1

F9 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
F9 gene location

GeneLoc gene densities for chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP127880: view genomic region (about GC identifiers)

Start:	127,880,671 bp from pter
End:	127,913,025 bp from pter
Size:	32,355 bases
Orientation:	plus strand

1 alternative location:

ChrX+ 138,612,895-138,645,617

RefSeq DNA sequence:

NC_000023.10 NT_011786.16

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: FA9_HUMAN, P00740 (See protein sequence)

Recommended Name: Coagulation factor IX precursor

Size: 461 amino acids; 51778 Da

Subunit: Heterodimer of a light chain and a heavy chain; disulfide-linked

Subcellular location: Secreted

Miscellaneous: In 1952, one of the earliest researchers of the disease, Dr. R.G. Macfarlane used the patient's surname,

Christmas, to refer to the disease and also to refer to the clotting factor which he called the 'Christmas Factor' At

the time Stephen Christmas was a 5-year-old boy. He died in 1993 at the age of 46 from acquired immunodeficiency

syndrome contracted through treatment with blood products

PDB structures from and Proteopedia :

1CFH (3D)

1CFI (3D)

1EDM (3D)

1IXA (3D)

1MGX (3D)

1NL0 (3D)

1RFN (3D)

2WPH (3D)

2WPI (3D)

2WPJ (3D)

2WPK (3D)

2WPL (3D)

2WPM (3D)

3KCG (3D)

3LC3 (3D)

3LC5 (3D)

Secondary accessions: A8K9N4 Q5JYJ8

Explore the universe of human proteins at neXtProt for F9: NX_P00740

Post-translational modifications:

Activated by factor XIa, which excises the activation peptide¹

The iron and 2-oxoglutarate dependent 3-hydroxylation of aspartate and asparagine is (R) stereospecific within EGF

domains¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins: NP_000124.1

ENSEMBL proteins:

ENSP00000218099 ENSP00000377650

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich Proteins for F9
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells OriGene Protein Over-expression Lysate: F9
	GenScript Purified and Recombinant Proteins for F9
	Novus Biologicals Proteins for F9
	Novus Biologicals Lysates for F9
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for F9

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005788	endoplasmic reticulum lumen	TAS	--
GO:0005796	Golgi lumen	TAS	--
GO:0005886	plasma membrane	EXP	2110473

About this table

F9 for ontologies About GeneDecksing

Antibodies for F9:

	Millipore Mono- and Polyclonal Antibodies for the study of F9
	Sigma-Aldrich Antibodies for F9
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies
	GenScript Superior Antibodies for F9
	Novus Biologicals Antibodies for F9
	Epitomics antibodies for F9

Assays for F9:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for F9
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for F9

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

F9 for domains About GeneDecksing

5/15 InterPro domains/families (see all 15):

IPR017857 Coagulation_fac_subgr_Gla_dom

IPR001314 Peptidase_S1A

IPR000742 EGF_3

IPR006209 EGF

IPR000152 EGF-type_Asp/Asn_hydroxyl_site

Graphical View of Domain Structure for InterPro Entry P00740

ProtoNet protein and cluster: P00740

5/7 Blocks protein families (see all 7):

IPB000152 Aspartic acid and asparagine hydroxylation site

IPB000294 Vitamin K-dependent carboxylation/gamma-carboxyglutamic (GLA) domain

IPB001254 Serine protease

IPB001314 Chymotrypsin serine protease family (S1) signature

IPB001438 Type II EGF-like signature

UniProtKB/Swiss-Prot: FA9_HUMAN, P00740

Domain: Calcium binds to the gamma-carboxyglutamic acid (Gla) residues and, with stronger affinity, to another site,

beyond the Gla domain

Similarity: Belongs to the peptidase S1 family

Similarity: Contains 2 EGF-like domains

Similarity: Contains 1 Gla (gamma-carboxy-glutamate) domain

Similarity: Contains 1 peptidase S1 domain

(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: FA9_HUMAN, P00740

Function: Factor IX is a vitamin K-dependent plasma protein that participates in the intrinsic pathway of blood

coagulation by converting factor X to its active form in the presence of Ca(2+) ions, phospholipids, and factor VIIIa

Catalytic activity: Selective cleavage of Arg- -Ile bond in factor X to form factor Xa

Enzyme Number (IUBMB): EC 3.4.21.22

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for F9 Sigma-Aldrich shRNA Panels and shRNA for F9
		OriGene 29mer shRNA kits in GFP-retroviral vector: F9 OriGene shRNA RFP: F9 OriGene basic RS shRNA: F9 OriGene siRNA: F9
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of F9

miRNA:		Sigma-Aldrich microRNA Mimics for F9 Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of F9
		1 SABiosciences Assays for microRNA that regulate F9:
		hsa-miR-576-5p

Gene
Editing:

Browse CompoZr Knockout ZFN at Sigma-Aldrich

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: F9 OriGene Myc/DDK tagged cDNA clones in CMV expression vector: F9 OriGene untagged cDNA clones in CMV expression vector: F9 OriGene 3'-UTR clone: F9 Browse MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for F9
		Sino Biological Human cDNA Clone for F9

Cell
Lines:

GenScript Custom overexpressing Cell Line Services for F9

Genatlas biochemistry entry for F9:

coagulation factor IX,vitamin K-dependent (plasma thromboplastic component)

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003824	catalytic activity	--	--
GO:0004252	serine-type endopeptidase activity	IEA	--
GO:0005509	calcium ion binding	IEA	--
GO:0005515	protein binding	IEA	--
GO:0008233	peptidase activity	IEA	--

About this table

F9 for ontologies About GeneDecksing

Animal Models: 7 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for F9):

cardiovascular system	hematopoietic system	homeostasis/metabolism	immune system	lethality-postnatal
life span-post-weaning/aging	liver/biliary system

F9 for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

F9 for pathways About GeneDecksing

1 Millipore Pathway for F9

Selected targets of C/EBPalpha

3 Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Pathways for F9

	Coagulation System
	Intrinsic Prothrombin Activation Pathway
	Lysine Degradation

1 Kegg Pathway (Kegg details for F9):

hsa04610 Complement and coagulation cascades

SABiosciences Custom Pathway-Focused PCR Arrays for F9

Sigma-Aldrich "Your Favorite Gene" (powered by Ingenuity) Molecular Interaction Network for F9

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for F9

5/14 Interacting proteins for F9 (ENSP00000218099³) via UniProtKB, MINT, and/or STRING (see all 14)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
F10	ENSP00000364709³	STRING: ENSP00000364709
F11	ENSP00000264691³	STRING: ENSP00000264691
F3	ENSP00000334145³	STRING: ENSP00000334145
FURIN	ENSP00000268171³	STRING: ENSP00000268171
GP1BA	ENSP00000329380³	STRING: ENSP00000329380

About this table

5/7 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 7):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006508	proteolysis	TAS	--
GO:0007596	blood coagulation	TAS	--
GO:0007597	blood coagulation, intrinsic pathway	TAS	--
GO:0007598	blood coagulation, extrinsic pathway	EXP	7598447
GO:0017187	peptidyl-glutamic acid carboxylation	TAS	--

About this table

F9 for ontologies About GeneDecksing

(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

F9 for compounds About GeneDecksing

Browse Small Molecules at Sigma-Aldrich

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for F9
UniProtKB/Swiss-Prot: FA9_HUMAN, P00740

Pharmaceutical: Available under the name BeneFix (Baxter and American Home Products). Used to treat hemophilia B

10/108 Novoseek chemical compound relationships for F9 gene (see all 108)

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
mononine	92.2	27	7495063 (2), 10444284 (2), 1531035 (2), 7571996 (2) (see all 15)
gamma-carboxyglutamic acid	87.5	113	12496253 (6), 8180219 (4), 17387172 (3), 9169594 (3) (see all 32)
erythro-beta-hydroxyaspartic acid	77.8	1	7906269 (1)
p-amino benzamidine	75.5	8	15829482 (1), 17676929 (1), 7740454 (1)
fibrinogen	69.2	68	18409149 (4), 11111234 (2), 12228267 (2), 17586991 (2) (see all 57)
rfviii	60.4	1	16420569 (1)
echicetin	53.4	1	7599152 (1)
kininogen	52.6	6	2315884 (2), 2341766 (1), 11579964 (1), 9951632 (1) (see all 5)
phospholipid	51	39	2248955 (3), 7680311 (3), 2363125 (2), 7547952 (2) (see all 23)
chymotrypsinogen	49.6	1	11551226 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
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 Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for F9 Sigma-Aldrich shRNA Panels and shRNA for F9
		OriGene 29mer shRNA kits in GFP-retroviral vector: F9 OriGene shRNA RFP: F9 OriGene basic RS shRNA: F9 OriGene siRNA: F9
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of F9

miRNA:		Sigma-Aldrich microRNA Mimics for F9 Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of F9
		1 SABiosciences Assays for microRNA that regulate F9:
		hsa-miR-576-5p

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector: F9 OriGene Myc/DDK tagged cDNA clones in CMV expression vector: F9 OriGene untagged cDNA clones in CMV expression vector: F9 OriGene 3'-UTR Clone: F9 Browse OriGene MicroRNA Expression Plasmids
		GenScript Custom cDNA clone Services for F9

Primers:		OriGene genome-wide validated SYBR primer pairs: F9 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for F9: PPH07069A

REFSEQ mRNAs for F9 gene:

NM_000133.3

Additional cDNA sequence:

AB186358.1 AK292749.1 BC109214.1 BC109215.1 J00136.1 J00137.1 M11309.1 M35672.1

4 DOTS entries:

DT.100735617 DT.208175 DT.91668233 DT.91668240

24 AceView cDNA sequences:

M11309 A22478 CB157484 NM_000133 T28608 CD607649 M35672 A22493

J00137 J00136 BX495480 CB156936 AV689501 AV696892 AV695793 BX495491

AV694632 AV684051 AV698079 AV687276 AV685937 AV695911 BX448845 AV690464

highest scoring ESTs for F9:

CB156936 CB157484 J00136 J00137 M11309 M35672 T28608 AB186358 AV647038 AV647182

Unigene Cluster for F9:

Coagulation factor IX

Hs.522798 [show with all ESTs]

Unigene Representative Sequence: NM_000133

GeneLoc Exon Structure

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

ENST00000479617 ENST00000218099(uc004fas.1 uc004fat.1) ENST00000394090

(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 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

F9 expression in normal and diseased human tissues

¹ / ² / ³

3 probe-sets matching F9 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
35556_at²^{, 3}	U95-A	1	0.75	1.00	1.00	1.00	K02402	0.20	1.00	0.72	1
207218_at²^{, 3}	U133-A	1	0.64	1.00	--	--	NM_000133	0.60	1.00	0.82	1
207218_at²	U133Plus2	1	0.64	1.00	--	--	--	--	--	--	--

About this table

F9 for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

About these images

CGAP SAGE TAG: GAACATTTTG

SOURCE GeneReport for Unigene cluster: Hs.522798

Expression variation in blood from EXPOLDB for F9

UniProtKB/Swiss-Prot: FA9_HUMAN, P00740

Tissue specificity: Synthesized primarily in the liver and secreted in plasma

Primers:		OriGene genome-wide validated SYBR primer pairs: F9 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for F9: PPH07069A

SABiosciences Custom PCR Arrays for F9

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for F9 gene from 5/9 species (see all 9)

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	F9¹	--	coagulation factor IX	88.32(n) 86.25(a)	404015 NM_001003323.1 NP_001003323.1
chimpanzee (Pan troglodytes)	F9¹	--	coagulation factor IX	99.77(n) 99.77(a)	465887 XM_521288.2 XP_521288.2
cow (Bos taurus)	F9¹	--	coagulation factor IX	88.4(n) 83.99(a)	280688 XM_581622.3 XP_581622.2
rat (Rattus norvegicus)	F9¹	--	coagulation factor IX	79.71(n) 76.09(a)	24946 XM_346365.3 XP_346366.3
mouse (Mus musculus)	F9^{1 , 5}	X (33.50 cM)⁵	coagulation factor IX^{1, 5}	85.9(n)¹ 82(a)¹	14071¹ NM_007979.1¹ NP_032005.1¹ AK149372⁵ AW111646⁵ (see all 11)

About this table Species with no ortholog for F9

ENSEMBL Gene Tree for F9 (if available)

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

Paralogs for F9 gene

PAMR1² PROZ² F10² F2² PROC² F7²

F9 for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs6047^1,2	C	138619439(+)	`TGTATG/TTTAAA`	1	--	int¹		2		NS	92
rs6048^1,2	C,F,O	138633280(+)	`CTGAGA/GCTGTT`	2	T A	ref¹ mis¹		15		MN EA NA NS	1142
rs6049^1,2	C,F,	138623355(+)	`TAAGTA/GACTAT`	1	--	int¹		3		MN NS	200
rs28897^1,2	--	138630116(+)	`ggggtA/Cttgat`	1	--	int¹		0	--	--	--	--
rs110583^1,2	C,F	138638531(+)	`CACTTT/CCCTCA`	1	--	int¹		15		NA EA NS	1286
rs368959^1,2	C,F,A,H	138611709(+)	`gggggC/Tgaggg`	1	--	ng5¹		4		NS NA	94
rs370713^1,2	C,F,O	138642393(+)	`CTTCAT/CAATAT`	1	--	int¹		15		EA NA NS	1027
rs371000^1,2	C,F,A,H,	138615521(+)	`tcattC/Tataaa`	1	--	int¹		19		NS EA NA WA	1483
rs374988^1,2	C,F,O,A,H,	138631215(+)	`GTCATA/GCCAAC`	1	--	int¹		13		NA NS EA WA	551
rs376165^1,2	C,F,O,H,	138617733(+)	`AGTTAA/GTCAGG`	1	--	int¹		29		NS EA NA WA	1992

About this table

HapMap Linkage Disequilibrium images for F9 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for F9
1 CNV: 52938

QIAGEN SeqTarget long-range PCR primers for resequencing F9

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

F9 for disorders About GeneDecksing

OMIM: 300746 disorders: 306900 122700 300807

UniProtKB/Swiss-Prot: FA9_HUMAN, P00740

Defects in F9 are the cause of recessive X-linked hemophilia B (HEMB) [MIM:306900]; also known as Christmas

disease

Note=Mutations in position 43 (Oxford-3, San Dimas) and 46 (Cambridge) prevents cleavage of the propeptide,

mutation in position 93 (Alabama) probably fails to bind to cell membranes, mutation in position 191 (Chapel-Hill) or

in position 226 (Nagoya OR Hilo) prevent cleavage of the activation peptide

Defects in F9 are the cause of thrombophilia due to factor IX defect (THR-FIX) [MIM:300807]. A hemostatic

disorder characterized by a tendency to thrombosis

10/93 Novoseek disease relationships for F9 gene (see all 93)

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
hemophilia b	98.4	508	7974341 (4), 1495722 (4), 11931806 (3), 8579061 (3) (see all 99)
hemophilia a	88.4	74	15508114 (2), 18388500 (2), 8352232 (2), 2105634 (1) (see all 56)
coagulopathy	84	75	9883841 (2), 1495722 (2), 2105634 (1), 1905206 (1) (see all 55)
factor xi deficiency	75.6	7	8639777 (2), 12432326 (1), 15611579 (1), 15842381 (1) (see all 6)
factor vii deficiency	72.1	5	8904177 (1), 10805278 (1), 15660984 (1), 7579395 (1) (see all 5)
bleeding	71.4	131	18721150 (4), 7886549 (3), 16269929 (3), 9446637 (3) (see all 88)
factor x deficiency	68.1	4	8028609 (2), 9038673 (1), 18374200 (1)
von willebrand disease	63.1	15	7600466 (1), 12432326 (1), 15357775 (1), 10517121 (1) (see all 13)
hemarthrosis	62.5	4	8579741 (1), 18716130 (1), 15569163 (1), 1782338 (1)
inherited coagulation disorders	61.7	4	11735604 (1), 12109144 (1)

About this table

Genatlas disease: F9

hemophilia B,Christmas disease,with a higher rate of transmitted mutation with increased maternal age

GeneTests: F9

Hemophilia B

Locus Specific Mutation Databases (LSDB): F9
Human Gene Mutation Database (HGMD): F9
Genetic Association Database (GAD): F9
Human Genome Epidemiology (HuGE) Navigator: F9 (22 documents)

Export disorders and mutations for F9 gene to outside databases

(Possibly Related Articles in Doctor's Guide)
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(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶UniProtKB/TrEMBL, and/or ⁷Novoseek)
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10/1015 PubMed articles for F9 gene, integrated from 7 sources (see all 1015):
(articles sorted by number of sources associating them with F9)

A mutation in the propeptide of factor IX leads to warfarin sensitivity by a novel mechanism. (PubMed id 8833911)^{1, 2, 7} Chu K.... High K.A. (1996)
Structure of the calcium ion-bound gamma-carboxyglutamic acid-rich domain of factor IX. (PubMed id 7547952)^{1, 2, 7} Freedman S.J.... Baleja J.D. (1995)
Activation peptide of human factor IX has oligosaccharides O- glycosidically linked to threonine residues at 159 and 169. (PubMed id 8172892)^{1, 2, 7} Agarwala K.L.... Iwanaga S. (1994)
Molecular pathology of haemophilia B in Turkish patients: identification of a large deletion and 33 independent point mutations. (PubMed id 12588353)^{1, 2, 7} Onay U.V.... Caglayan S.H. (2003)
Identification of the phospholipid binding site in the vitamin K- dependent blood coagulation protein factor IX. (PubMed id 8663165)^{1, 2, 7} Freedman S.J....Furie B. (1996)
Structure of the metal-free gamma-carboxyglutamic acid-rich membrane binding region of factor IX by two-dimensional NMR spectroscopy. (PubMed id 7713897)^{1, 2, 7} Freedman S.J.... Baleja J.D. (1995)
The structure of a Ca(2+)-binding epidermal growth factor-like domain: its role in protein-protein interactions. (PubMed id 7606779)^{1, 2, 7} Rao Z.... Stuart D. (1995)
The Arg-4 mutant factor IX Strasbourg 2 shows a delayed activation by factor XIa. (PubMed id 8295821)^{1, 2, 7} de la Salle C....Balland A. (1993)
Hemophilia B caused by five different nondeletion mutations in the protease domain of factor IX. (PubMed id 1346975)^{1, 2, 7} Ludwig M.... Bajaj S.P. (1992)
Human factor IX has a tetrasaccharide O-glycosidically linked to serine 61 through the fucose residue. (PubMed id 1517205)^{1, 2, 7} Nishimura H.... Iwanaga S. (1992)

(in PubMed, OMIM, and 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: 2158	HGNC: 3551	AceView: F9	Ensembl:ENSG00000101981	euGenes: HUgn2158
ECgene: F9	Kegg: 2158	H-InvDB: F9

(According to HUGE)
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(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
Wikipedia	http://en.wikipedia.org/wiki/Factor_IX
HAEMB	http://www.kcl.ac.uk/ip/petergreen/haemBdatabase.html
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/F9
SeattleSNPs	http://pga.gs.washington.edu/data/f9/
BeneFix	http://www.wyeth.com/products/benefix.asp
Protein Spotlight	http://www.expasy.org/spotlight/back_issues/sptlt041.shtml

Intellectual Property for F9 gene
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Patent Information for F9 gene:
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F9 Gene

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