Gene
F9
coagulation factor IX
- HGNC 3551↗(opens in a new tab)
- Ensembl gene ENSG00000101981↗(opens in a new tab)
- NCBI Gene 2158↗(opens in a new tab)
Summary
- Cytogenetic location
- Xq27.1
- Coordinates
- Chromosome X: 139,530,739–139,563,459 (GRCh38)
- Exons
- 8 exons across 32.7 kb
- Protein
- 461 amino acids
- Inheritance
- X-linked recessive
- Also known as
- FIX
- MANE Select transcript
- ENST00000218099.7NM_000133.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Haemophilia
- HemophiliaX-linked recessive
A group of bleeding disorders caused by deficiency of coagulation factor VIII (haemophilia A) or factor IX (haemophilia B).
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Factor replacement therapy, extended half-life factor products, emicizumab (bispecific antibody), immune tolerance therapy
Thrombophilia
- Inherited Thrombophilia
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Anticoagulation (duration by genotype); avoid estrogen-containing contraceptives; LMWH for pregnancy prophylaxis; extended post-surgical anticoagulation; lifelong anticoagulation for compound/high-risk genotypes
Inheritance
- X-linked recessive
- The change is on the X chromosome, so one copy affects males, who have one X, while females with one are usually carriers. A carrier mother passes it on to each child with a one-in-two chance.
How F9 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.8 kb of the gene's 32.7 kb; 1,386 of those bases code for the protein.
How a genome test reads F9
186
positions in F9 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 32.7 kb of F9, introns included, not only the 2.8 kb of exons.
Variants with a page (44)
The F9 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A279T | c.835G>A | Exon 7 | 139,560,852 | Pathogenic | ★★★★3 stars out of 4 reviewed by expert panel |
| A337P | c.1009G>C | Exon 8 | 139,561,694 | Likely pathogenic | ★★★★3 stars out of 4 reviewed by expert panel |
| A337T | c.1009G>A | Exon 8 | 139,561,694 | Pathogenic | ★★★★3 stars out of 4 reviewed by expert panel |
| A337V | c.1010C>T | Exon 8 | 139,561,695 | Pathogenic | ★★★★3 stars out of 4 reviewed by expert panel |
| c.88+1G>A | Intron 1 | 139,530,853 | Pathogenic | ★★★★3 stars out of 4 reviewed by expert panel | |
| c.88+5G>T | Intron 1 | 139,530,857 | Likely pathogenic | ★★★★3 stars out of 4 reviewed by expert panel | |
| c.138G>T | Exon 2 | 139,537,059 | Pathogenic | ★★★★3 stars out of 4 reviewed by expert panel | |
| c.520+13A>G | Intron 5 | 139,548,504 | Pathogenic | ★★★★3 stars out of 4 reviewed by expert panel | |
| C268G | c.802T>G | Exon 7 | 139,560,819 | Likely pathogenic | ★★★★3 stars out of 4 reviewed by expert panel |
| C268R | c.802T>C | Exon 7 | 139,560,819 | Likely pathogenic | ★★★★3 stars out of 4 reviewed by expert panel |
Genes linked to the same conditions
- F11coagulation factor XIShares 1 condition
- F2coagulation factor II, thrombinShares 1 condition
- F5coagulation factor VShares 1 condition
- F8coagulation factor VIIIShares 1 condition
- HRGhistidine rich glycoproteinShares 1 condition
- PROCprotein C, inactivator of coagulation factors Va and VIIIaShares 1 condition
- PROS1protein SShares 1 condition
- SERPINC1serpin family C member 1Shares 1 condition
- SERPIND1serpin family D member 1Shares 1 condition
- THBDthrombomodulinShares 1 condition
Traits linked to F9
The Human Phenotype Ontology lists these as features of the rare conditions F9 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). F9 gene: coagulation factor IX. Retrieved 16 October 2026, from https://dantelabs.com/genes/f9
Dante Labs. F9 gene: coagulation factor IX [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/f9
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