Gene
CLXN
calaxin
- HGNC 25678↗(opens in a new tab)
- Ensembl gene ENSG00000034239↗(opens in a new tab)
- NCBI Gene 79645↗(opens in a new tab)
Summary
- Cytogenetic location
- 8q11.21
- Coordinates
- Chromosome 8: 48,723,391–48,735,268 (GRCh38)
- Exons
- 6 exons across 11.9 kb
- Protein
- 211 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- FLJ11767, ODAD5
- Previous symbols
- EFCAB1
- MANE Select transcript
- ENST00000262103.8NM_024593.4
- 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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Primary Ciliary Dyskinesia
- Autosomal recessive
A rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy).
- ClinGen rates the link strong
- 2 GenCC submitters rate it definitive or strong
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 CLXN is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 2.1 kb of the gene's 11.9 kb; 636 of those bases code for the protein.
How a genome test reads CLXN
3
positions in CLXN 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 11.9 kb of CLXN, introns included, not only the 2.1 kb of exons.
Genes linked to the same conditions
- CCDC39coiled-coil domain 39 molecular ruler complex subunitShares 1 condition
- CCDC40coiled-coil domain 40 molecular ruler complex subunitShares 1 condition
- CCNOcyclin OShares 1 condition
- CENPFcentromere protein FShares 1 condition
- CFAP20DCCFAP20 domain containingShares 1 condition
- CFAP221cilia and flagella associated protein 221Shares 1 condition
- CFAP298cilia and flagella associated protein 298Shares 1 condition
- CFAP300cilia and flagella associated protein 300Shares 1 condition
- CFAP54cilia and flagella associated protein 54Shares 1 condition
- DAW1dynein assembly factor with WD repeats 1Shares 1 condition
- DNAAF1dynein axonemal assembly factor 1Shares 1 condition
- DNAAF11dynein axonemal assembly factor 11Shares 1 condition
Traits linked to CLXN
The Human Phenotype Ontology lists these as features of the rare conditions CLXN can cause. Each trait's page lists the other genes linked to it.
Abnormality of the cardiovascular system
- All organs on wrong side of body
- Common atrium
- Enlarged heart
- Increased blood pressure in blood vessels of lungs
- Multiple small spleens
- Patent foramen ovale
- Perimembranous ventricular septal defect
- Persistent left superior vena cava
Show 11 more traits
- Right aortic arch
- Underdeveloped spleen
- Abnormal cardiovascular system morphology
- Abnormality of the heart
- Abnormal inferior vena cava morphology
- Abnormal location of heart atrium
- Absent spleen
- Anomalous pulmonary venous return
- Atrial situs ambiguous
- Double outlet right ventricle
- Transposition of the great arteries
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.). CLXN gene: calaxin. Retrieved 17 October 2026, from https://dantelabs.com/genes/clxn
Dante Labs. CLXN gene: calaxin [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/clxn
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