Gene
SLX4
SLX4 structure-specific endonuclease subunit
- HGNC 23845↗(opens in a new tab)
- Ensembl gene ENSG00000188827↗(opens in a new tab)
- NCBI Gene 84464↗(opens in a new tab)
Summary
- Cytogenetic location
- 16p13.3
- Coordinates
- Chromosome 16: 3,581,181–3,611,606 (GRCh38)
- Exons
- 15 exons across 30.4 kb
- Protein
- 1,834 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- KIAA1784, KIAA1987, FANCP
- Previous symbols
- BTBD12
- MANE Select transcript
- ENST00000294008.4NM_032444.4
- 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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DNA Repair Disease
- Autosomal recessive
A disease that has its basis in the disruption of DNA repair.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
Fanconi Anemia
- Autosomal recessive
Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
What knowing changes
Hematopoietic stem cell transplantation using FA-specific reduced-intensity conditioning; androgens (oxymetholone) as bridge therapy; cancer surveillance for head/neck and gynecological malignancies; gene therapy in clinical trials
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How SLX4 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 7.3 kb of the gene's 30.4 kb; 5,505 of those bases code for the protein.
How a genome test reads SLX4
139
positions in SLX4 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 30.4 kb of SLX4, introns included, not only the 7.3 kb of exons.
Genes linked to the same conditions
- BRCA1BRCA1 DNA repair associatedShares 2 conditions
- BRCA2BRCA2 DNA repair associatedShares 2 conditions
- BRIP1BRCA1 interacting DNA helicase 1Shares 2 conditions
- ERCC4ERCC excision repair 4, endonuclease catalytic subunitShares 2 conditions
- FANCAFA complementation group AShares 2 conditions
- FANCBFA complementation group BShares 2 conditions
- FANCCFA complementation group CShares 2 conditions
- FANCD2FA complementation group D2Shares 2 conditions
- FANCEFA complementation group EShares 2 conditions
- FANCFFA complementation group FShares 2 conditions
- FANCGFA complementation group GShares 2 conditions
- FANCIFA complementation group IShares 2 conditions
Traits linked to SLX4
The Human Phenotype Ontology lists these as features of the rare conditions SLX4 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the cardiovascular system
- Abnormal cardiac septum morphology
- Abnormal aortic morphology
- Abnormal aortic valve morphology
- Abnormal carotid artery morphology
- An opening in the wall separating the top two chambers of the heart
- Arteriovenous malformation
- Enlarged and thickened heart muscle
- Patent ductus arteriosus
Show 1 more trait
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.). SLX4 gene: SLX4 structure-specific endonuclease subunit. Retrieved 16 October 2026, from https://dantelabs.com/genes/slx4
Dante Labs. SLX4 gene: SLX4 structure-specific endonuclease subunit [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/slx4
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