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Gene and Protein Information | ||||||
Species | TM | AA | Chromosomal Location | Gene Symbol | Gene Name | Reference |
Human | - | 461 | Xq27.1 | F9 | coagulation factor IX | |
Mouse | - | 471 | X 33.5 cM | F9 | coagulation factor IX | |
Rat | - | 462 | Xq36 | F9 | coagulation factor IX |
Previous and Unofficial Names |
hemophilia B | plasma thromboplastic component | Cf9 | FIX | factor IX | christmas factor |
Database Links | |
Specialist databases | |
MEROPS | S01.214 (Hs) |
Other databases | |
Alphafold | P00740 (Hs), P16294 (Mm), P16296 (Rn) |
BRENDA | 3.4.21.22 |
CATH/Gene3D | 4.10.740.10 |
ChEMBL Target | CHEMBL2016 (Hs), CHEMBL4105734 (Rn) |
DrugBank Target | P00740 (Hs) |
Ensembl Gene | ENSG00000101981 (Hs), ENSMUSG00000031138 (Mm), ENSRNOG00000003430 (Rn) |
Entrez Gene | 2158 (Hs), 14071 (Mm), 24946 (Rn) |
Human Protein Atlas | ENSG00000101981 (Hs) |
KEGG Enzyme | 3.4.21.22 |
KEGG Gene | hsa:2158 (Hs), mmu:14071 (Mm), rno:24946 (Rn) |
OMIM | 300746 (Hs) |
Orphanet | ORPHA121683 (Hs) |
Pharos | P00740 (Hs) |
RefSeq Nucleotide | NM_000133 (Hs), NM_007979 (Mm), NM_031540 (Rn) |
RefSeq Protein | NP_000124 (Hs), NP_032005 (Mm), NP_113728 (Rn) |
UniProtKB | P00740 (Hs), P16294 (Mm), P16296 (Rn) |
Wikipedia | F9 (Hs) |
Enzyme Reaction | ||||
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Download all structure-activity data for this target as a CSV file
Inhibitors | |||||||||||||||||||||||||||||||||||||||||||||||||||
Key to terms and symbols | View all chemical structures | Click column headers to sort | |||||||||||||||||||||||||||||||||||||||||||||||||
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Antibodies | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Clinically-Relevant Mutations and Pathophysiology | ||||||||||||||
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Gene Expression and Pathophysiology Comments | |
A gene therapy that delivers a factor IX gene for expression in the liver (etranacogene dezaparvovec-drlb; AMT-061; Hemgenix®) to treat hemophilia B first became available in 2022 (FDA approval). It has subsequently been approved by other national regulatory agencies. |
General Comments |
Factor IX deficiency causes hemophilia B [1]. It is inhibited by endogenous antithrombin (SERPINC1) [2]. Recombinant factor IX (Nonafact®) is used to treat hemophilia B, however it is very rapidly cleared from the circulation. Peptide factor IX mimetics with enhanced biological properties are being developed to improve the effectiveness of hemophilia B prophylaxis. One such potent and long-acting factor IX mimetic is CB 2679d (ISU304), which is being developed by Catalyst Biosciences for subcutaneous administration (see Phase 1 proof-of-concept clinical trial NCT03186677) [4]. CB 2679d has been granted EMA orphan medicinal product designation (July 2017) [3]. |
1. BIGGS R, DOUGLAS AS, MACFARLANE RG, DACIE JV, PITNEY WR, MERSKEY. (1952) Christmas disease: a condition previously mistaken for haemophilia. Br Med J, 2 (4799): 1378-82. [PMID:12997790]
2. Di Scipio RG, Kurachi K, Davie EW. (1978) Activation of human factor IX (Christmas factor). J Clin Invest, 61 (6): 1528-38. [PMID:659613]
3. EMA. CB 2679d orphan designation. Accessed on 28/09/2017. Modified on 28/09/2017. ema.europa.eu, http://www.ema.europa.eu/ema/index.jsp?curl=pages/medicines/human/orphans/2017/07/human_orphan_001999.jsp&mid=WC0b01ac058001d12b
4. Hong S-B, Levy H, Jung JY, Park M, Seo AR, Seo SH, Madison E. (2016) Pharmacokinetics of Subcutaneously Administered CB2679d/ISU304 in Wild-Type and Hemophilia B Mice. Blood, 128: 1389.
5. Kitazawa T, Esaki K, Tachibana T, Ishii S, Soeda T, Muto A, Kawabe Y, Igawa T, Tsunoda H, Nogami K et al.. (2017) Factor VIIIa-mimetic cofactor activity of a bispecific antibody to factors IX/IXa and X/Xa, emicizumab, depends on its ability to bridge the antigens. Thromb Haemost, 117 (7): 1348-1357. [PMID:28451690]
6. Wang S, Beck R, Burd A, Blench T, Marlin F, Ayele T, Buxton S, Dagostin C, Malic M, Joshi R et al.. (2010) Structure based drug design: development of potent and selective factor IXa (FIXa) inhibitors. J Med Chem, 53 (4): 1473-82. [PMID:20121197]
S1: Chymotrypsin: coagulation factor IX. Last modified on 27/06/2024. Accessed on 05/11/2024. IUPHAR/BPS Guide to PHARMACOLOGY, https://www.guidetopharmacology.org/GRAC/ObjectDisplayForward?objectId=2364.