F9 Chromosome X
Coagulation factor IX
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What This Gene Does
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. Alternative splicing results in multiple transcript variants encoding different isoforms that may undergo similar proteolytic processing. [provided by RefSeq, Sep 2015]
Gene Info
Gene Group
Gla domain containing
Locus Type
gene with protein product
Location
Xq27.1
Ensembl
ENSG00000101981
Associated Conditions (13)
Hereditary factor IX deficiency disease
Warfarin sensitivity
X-linked
Thrombophilia
due to factor 9 defect
F9-related disorder
Hereditary factor VIII deficiency disease
Abnormality of coagulation
Inborn genetic diseases
Hemophilia B leyden
Hemophilia b(m)
Reduced factor IX activity
HEMOPHILIA B BRANDENBURG
Key Variants
RS367569299
Benign; association
Hereditary factor IX deficiency disease, Warfarin sensitivity, X-linked
Health Risk
RS147567879
Conflicting classifications of pathogenicity
Thrombophilia, X-linked, due to factor 9 defect
Health Risk
RS1569481975
Conflicting classifications of pathogenicity
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
Health Risk
RS1928102577
Conflicting classifications of pathogenicity
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
Health Risk
RS1928132545
Conflicting classifications of pathogenicity
Hereditary factor IX deficiency disease, Thrombophilia, X-linked
Health Risk
RS200608775
Conflicting classifications of pathogenicity
Hereditary factor IX deficiency disease, Thrombophilia, X-linked
Health Risk
RS2148353000
Conflicting classifications of pathogenicity
Hereditary factor IX deficiency disease, Thrombophilia, X-linked
Health Risk
RS2148361153
Conflicting classifications of pathogenicity
Thrombophilia, X-linked, due to factor 9 defect
Health Risk
RS2148367254
Conflicting classifications of pathogenicity
Thrombophilia, X-linked, due to factor 9 defect
Health Risk
RS387906480
Conflicting classifications of pathogenicity
Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease
Health Risk
RS752084251
Conflicting classifications of pathogenicity
Thrombophilia, X-linked, due to factor 9 defect
Health Risk
RS753654616
Conflicting classifications of pathogenicity
Hereditary factor VIII deficiency disease, Hereditary factor IX deficiency disease, Hereditary factor VIII deficiency disease
Health Risk
All Variants (232)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1603263397 | Health Risk | Pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603264205 | Health Risk | Pathogenic | Hereditary factor IX deficiency disease, Thrombophilia, X-linked |
| RS1603264236 | Health Risk | Pathogenic | — |
| RS1603264246 | Health Risk | Pathogenic | Reduced factor IX activity, Reduced factor IX activity |
| RS1603264299 | Health Risk | Pathogenic | — |
| RS1603264300 | Health Risk | Pathogenic | Abnormality of coagulation, Abnormality of coagulation |
| RS1603264719 | Health Risk | Pathogenic | — |
| RS1603264727 | Health Risk | Pathogenic | Hereditary factor IX deficiency disease, Thrombophilia, X-linked |
| RS1603265480 | Health Risk | Pathogenic | — |
| RS1603265487 | Health Risk | Pathogenic | — |
| RS1603265493 | Health Risk | Pathogenic | — |
| RS1603265500 | Health Risk | Pathogenic | — |
| RS1603265507 | Health Risk | Pathogenic | Hereditary factor VIII deficiency disease, Thrombophilia, X-linked |
| RS1603265760 | Health Risk | Pathogenic | Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease |
| RS1603265779 | Health Risk | Pathogenic | — |
| RS1603265827 | Health Risk | Pathogenic | Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS1603265830 | Health Risk | Pathogenic | Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS1603265832 | Health Risk | Pathogenic | Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease, Thrombophilia |
| RS1603267391 | Health Risk | Pathogenic | — |
| RS1603267398 | Health Risk | Pathogenic | — |
| RS1603267411 | Health Risk | Pathogenic | — |
| RS1603267420 | Health Risk | Pathogenic | — |
| RS1603267443 | Health Risk | Pathogenic | — |
| RS1603267486 | Health Risk | Pathogenic | — |
| RS1927322453 | Health Risk | Pathogenic | Hemophilia B leyden, Hemophilia B leyden |
| RS1927328297 | Health Risk | Pathogenic | Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS1927493197 | Health Risk | Pathogenic | Hereditary factor IX deficiency disease, Thrombophilia, X-linked |
| RS1927497998 | Health Risk | Pathogenic | — |
| RS1927498635 | Health Risk | Pathogenic | Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS1927764839 | Health Risk | Pathogenic | Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS1927768022 | Health Risk | Pathogenic | Thrombophilia, X-linked, due to factor 9 defect |
| RS1928107434 | Health Risk | Pathogenic | Thrombophilia, X-linked, due to factor 9 defect |
| RS1928109999 | Health Risk | Pathogenic | Hereditary factor IX deficiency disease, Thrombophilia, X-linked |
| RS1928111051 | Health Risk | Pathogenic | Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS1928114627 | Health Risk | Pathogenic | Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS1928116697 | Health Risk | Pathogenic | Thrombophilia, X-linked, due to factor 9 defect |
| RS2148352851 | Health Risk | Pathogenic | HEMOPHILIA B BRANDENBURG, HEMOPHILIA B BRANDENBURG |
| RS2148352869 | Health Risk | Pathogenic | Hemophilia B leyden, Hemophilia B leyden |
| RS2148352878 | Health Risk | Pathogenic | Hemophilia B leyden, Hemophilia B leyden |
| RS2148353009 | Health Risk | Pathogenic | Thrombophilia, X-linked, due to factor 9 defect |
| RS2148356221 | Health Risk | Pathogenic | Hereditary factor IX deficiency disease, Thrombophilia, X-linked |
| RS2148361240 | Health Risk | Pathogenic | Thrombophilia, X-linked, due to factor 9 defect |
| RS2148362390 | Health Risk | Pathogenic | Thrombophilia, X-linked, due to factor 9 defect |
| RS2148367245 | Health Risk | Pathogenic | Hereditary factor IX deficiency disease, Thrombophilia, X-linked |
| RS2148367882 | Health Risk | Pathogenic | Thrombophilia, X-linked, due to factor 9 defect |
| RS2148367990 | Health Risk | Pathogenic | Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS2148368332 | Health Risk | Pathogenic | Hereditary factor IX deficiency disease, Thrombophilia, X-linked |
| RS2520744315 | Health Risk | Pathogenic | Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS2520790051 | Health Risk | Pathogenic | Hereditary factor IX deficiency disease, Hereditary factor IX deficiency disease |
| RS2520790212 | Health Risk | Pathogenic | Hereditary factor IX deficiency disease, Thrombophilia, X-linked |