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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

F9 Gene

protein-coding GIFtS: 72
GCID: GC0XP138612

coagulation factor IX

Explore 110 diseases affiliated with
F9 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 IX¹ ²		THPH8²
FIX¹ ²		F9 P22²
Plasma Thromboplastin Component² ³		Factor 9²
PTC² ³		Factor IX F9²
Christmas Factor² ³		FIX F9²
EC 3.4.21.22³ ⁸		Plasma Thromboplastic Component²
HEMB² ⁵		EC 3.4.21⁸
P19²

External Ids:	HGNC: 3551¹	Entrez Gene: 2158²	Ensembl: ENSG00000101981⁷	OMIM: 300746⁵	UniProtKB: P00740³

Export aliases for F9 gene to outside databases

Previous GC identifers: GC0XP133196 GC0XP135470 GC0XP136557 GC0XP137318 GC0XP138338 GC0XP138440 GC0XP127880

(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 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, Jul 2008)

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 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_011786.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the F9 gene promoter:
NF-1 POU2F1 POU2F1a HSF2 ATF-2 Lmo2 GATA-1 Evi-1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: F9 promoter sequence

Search SABiosciences Chromatin IP Primers for F9

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat F9

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 information about chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP138612: view genomic region (about GC identifiers)

Start:	138,612,895 bp from pter	End:	138,645,617 bp from pter
Size:	32,723 bases	Orientation:	plus 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: 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

6/16 PDB 3D structures from and Proteopedia for F9 (see all 16):

1CFH (3D)

1CFI (3D)

1EDM (3D)

1IXA (3D)

1MGX (3D)

1NL0 (3D)

Secondary accessions: A8K9N4 F2RM36 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 modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P00740

4/24 DME Specific Peptides for F9 (P00740) (see all 24)

GYVSGWG

DIALLEL

YTKVSRY

EYTNIFL

F9 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_000124.1

ENSEMBL proteins:

ENSP00000218099 ENSP00000377650

Reactome Protein details: P00740
Human Recombinant Protein Products:

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	ProSpec Recombinant Protein for F9
	Uscn Proteins for F9

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:0005788	endoplasmic reticulum lumen	TAS	--
GO:0005796	Golgi lumen	TAS	--
GO:0005886	plasma membrane	TAS	--

F9 for ontologies About GeneDecksing

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	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

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

IPR017857 Coagulation_fac_subgr_Gla_dom

IPR001314 Peptidase_S1A

IPR000742 EG-like_dom

IPR000152 EGF-type_Asp/Asn_hydroxyl_site

IPR018097 EGF_Ca-bd_CS

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 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: 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

Genatlas biochemistry entry for F9:

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

Enzyme Numbers (IUBMB): EC 3.4.21.22¹ ² EC 3.4.21²

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for F9

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:0004252	serine-type endopeptidase activity	IEA	--
GO:0005509	calcium ion binding	IEA	--
GO:0008233	peptidase activity	--	--

F9 for ontologies           About GeneDecksing

Animal Models:
     Mouse knock-outs for F9: F9^tm1Emg F9^tm1Ver F9^tm1Dws
     6 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for F9):

cardiovascular system	hematopoietic system	homeostasis/metabolism	immune system	liver/biliary system
mortality/aging

F9 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 - 5/8 super-pathways (see all 8) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

Gamma-carboxylation, transport, and amino-terminal cleavage of proteins

Gamma-carboxylation, transport, and amino-terminal cleavage of proteins	1.00	Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus	0.73
Removal of aminoterminal propeptides from gamma-carboxylated proteins	0.82	Warfarin Pathway, Pharmacodynamics	0.67
Gamma-carboxylation of protein precursors	0.82	Extrinsic Pathway	0.23

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

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

Asparagine N-linked glycosylation

Post-translational protein modification

0.44

Metabolism of proteins

0.15

Pathway sources
See GeneCards unified pathways
Show all pathways

1 EMD Millipore Pathway for F9

Selected targets of C/EBPalpha

1 R&D Systems Pathway for F9

Blood Coagulation Signaling Pathways

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for F9

	Blood Coagulation Cascade
	Intrinsic Prothrombin Activation Pathway

2 BioSystems Pathways for F9

	Blood Clotting Cascade
	Complement and Coagulation Cascades

5/11 Reactome Pathways for F9 (see all 11)

	Hemostasis
	Extrinsic Pathway
	Intrinsic Pathway
	Removal of aminoterminal propeptides from gamma-carboxylated proteins
	PTM: gamma carboxylation, hypusine formation and arylsulfatase activation

1 PharmGKB Pathway for F9

Warfarin Pathway, Pharmacodynamics

1 Kegg Pathway (Kegg details for F9):

Complement and coagulation cascades

F9 for pathways About GeneDecksing

Interactions:

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

STRING Interaction Network Preview (showing 5 interactants - click image to see 14)

5/14 Interacting proteins for F9 (P00740³ ENSP00000218099⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 14)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
LRP1	Q07954³, ENSP00000243077⁴	I2D: score=2 STRING: ENSP00000243077
F2	P00734³, ENSP00000308541⁴	I2D: score=1 STRING: ENSP00000308541
F7	P08709³, ENSP00000364731⁴	I2D: score=1 STRING: ENSP00000364731
F8	P00451³, ENSP00000353393⁴	I2D: score=1 STRING: ENSP00000353393
GGCX	P38435³, ENSP00000233838⁴	I2D: score=1 STRING: ENSP00000233838

About this table

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

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	TAS	--
GO:0017187	peptidyl-glutamic acid carboxylation	TAS	--

F9 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

F9 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

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

2 HMDB Compounds for F9 About this table

Compound	Synonyms	CAS #	PubMed Ids
Calcium	Ca (see all 2)	7440-70-2	--
Menadione	Vitamin K3: 1,4-Dihydro-1,4-dioxo-2-methylnaphthalene (see all 49)	58-27-5	--

1 DrugBank Compound for F9 About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Gamma-Carboxy-Glutamic Acid	--	--	target	--	--

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

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)

Search CenterWatch for drugs/clinical trials and news about F9 / FA9

(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 F9 gene:

NM_000133.3

Unigene Cluster for F9:

Coagulation factor IX

Hs.522798 [show with all ESTs]

Unigene Representative Sequence: NM_000133

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

ENST00000479617 ENST00000218099(uc004fas.1 uc004fat.1) ENST00000394090

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Additional cDNA sequence:

AB186358.1 AK292749.1 BC109214.1 BC109215.1 FR846238.1 FR846239.1 FR846240.1 J00136.1

J00137.1 M11309.1 M35672.1

4 DOTS entries:

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

24 AceView cDNA sequences:

NM_000133 T28608 A22478 M11309 CD607649 CB157484 M35672 J00136

BX495480 A22493 CB156936 J00137 BX495491 AV689501 AV695793 AV694632

AV696892 AV684051 AV698079 BX448845 AV687276 AV695911 AV685937 AV690464

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

F9 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: GAACATTTTG

About this image

F9 expression in embryonic tissues and stem cells

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

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Hepatocyte-like cells (Functional hepatocyt...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See F9 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for F9

SOURCE GeneReport for Unigene cluster: Hs.522798

UniProtKB/Swiss-Prot: FA9_HUMAN, P00740

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

SABiosciences Custom PCR Arrays for F9

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In Situ
Assay Products:

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

This gene was present in the common ancestor of animals.

Orthologs for F9 gene from 4/13 species (see all 13) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	F9¹	coagulation factor IX	61.37(n) 57.17(a)		374258 NM_204343.1 NP_989674.1
lizard (Anolis carolinensis)	Reptilia	F9⁶	--	56(a)	1 ↔ 1	GL343694.1(74815-85782)
zebrafish (Danio rerio)	Actinopterygii	f9²	coagulation factor IX	75.85(n)		359826 AF515270.1
fruit fly (Drosophila melanogaster)	Insecta	CG4914^{1 , 3}	serine-type endopeptidase³ CG4914¹	34(a)³ 47.8(n)¹ 36.17(a)¹		70E7³ 39597¹ NM_140454.2¹ NP_648711.1¹

ENSEMBL Gene Tree for F9 (if available)
TreeFam Gene Tree for F9 (if available)

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

Paralogs for F9 gene

PROZ² PAMR1² C1S² C1R² C1RL² MASP1² F10² F2²

HPR² HP² PROC² F7² MASP2²

18/145 SIMAP similar genes for F9 using alignment to 47 protein entries: FA9_HUMAN (see all proteins) (see all similar genes):

F9 p22 factor IX F9 CRB1 SLIT2 SLIT3 FAT4

PRRG3 PRRG1 F10 JAG1 PROS1 VWA2

FAT1 SNED1 SVEP1 CELSR3 EGFLAM NOTCH2

F9 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 X pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs1800455^1,2	C,F,	non-pathogenic	138642995(+)	`GGTGTT/CAAAAT`	2	/V	syn¹		1		NA	4548
rs137852225^1,2	C	pathogenic	138619297(+)	`TTGAAA/GAAGCA`	2	K E	mis¹		0	--	--	--	--
rs137852233^1,2	C,F	pathogenic	138623273(+)	`ATGGCG/AGCAGT`	2	/S /G	mis¹		1		NA	4548
rs137852237^1,2	C	pathogenic	138633271(+)	`TCACCC/TGTGCT`	2	R C	mis¹		1		NA	4550
rs137852243^1,2	C	probable-pathogenic	138633382(+)	`GGGTTC/G/TTTGGT`	3	L V F	mis¹		0	--	--	--	--
rs137852260^1,2	C	probable-pathogenic	138643988(+)	`CCACAA/C/TGTCTT`	3	S R C	mis¹		0	--	--	--	--
rs137852283^1,2	C	probable-pathogenic	138643995(+)	`TCTTCC/G/TATCTA`	3	P R L	mis¹		0	--	--	--	--
rs137852266^1,2	C	probable-pathogenic	138644151(+)	`GTGTGA/C/TAATGA`	3	E A V	mis¹		0	--	--	--	--
rs6048^1,2	C,F,O,H,	other	138633280(+)	`CTGAGA/GCTGTT`	2	T A	mis¹		25		MN EA NA NS CSA	6911
rs181061763^1,2		--	138610912(+)	`GCAACC/TTAAAG`	1	--	us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for F9 (138612895 - 138645617 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for F9
1 CNV: 52938
Human Gene Mutation Database (HGMD): F9

Locus Specific Mutation Databases (LSDB): F9

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing F9

DNA2.0 Custom Variant and Variant Library Synthesis for F9

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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F9 for disorders           About GeneDecksing

OMIM gene information: 300746
OMIM 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 (THPH8) [MIM:300807]. A hemostatic

disorder characterized by a tendency to thrombosis

20/110 diseases for F9 (see all 110): About MalaCards

thrombophilia, x-linked, due to factor ix defect vitamin k-dependent clotting factors hemophilia b hemophilia

factor xi deficiency disseminated intravascular coagulation factor xii deficiency factor vii deficiency

deep vein thrombosis vitamin k deficiency hemorrhagic disease glanzmann's thrombasthenia steroid-resistant nephrotic syndrome

ectopia lentis von willebrand's disease factor x deficiency factor viii deficiency

factor v deficiency hemophilic arthropathy color blindness protein c deficiency

9 diseases from the University of Copenhagen DISEASES database for F9:

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

Hepatitis Pain agnosia X-linked disease Factor X deficiency

Color blindness

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

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)

Genatlas disease: F9

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

GeneTests: F9

Hemophilia B

Genetic Association Database (GAD): F9
Human Genome Epidemiology (HuGE) Navigator: F9 (24 documents)

Export disorders for F9 gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for F9 gene, integrated from 9 sources (see all 1031):
(articles sorted by number of sources associating them with F9)

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

A mutation in the propeptide of factor IX leads to warfarin sensitivity by a novel mechanism. (PubMed id 8833911)^{1, 2, 9} 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, 9} 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, 9} 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, 9} 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, 9} 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, 9} 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, 9} 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, 9} 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, 9} 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, 9} Nishimura H.... Iwanaga S. (1992)

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

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 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 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 F9	Pharmacogenomics, SNPs, Pathways
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://web.expasy.org/spotlight/back_issues/sptlt041.shtml

Intellectual Property for F9 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for F9 gene:
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GeneCards and IP:
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Hemorrhagic diseases
ABNORMAL PLATELETS
sepsis
Herpes Simplex
coagulopathy
GASTROINTESTINAL BLEEDING
Cystic Fibrosis
Allergic Reaction
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Liver diseases
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INFARCT
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BLADDER CARCINOMA
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STROKE
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F9 Gene

coagulation factor IX

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