Gene
CLDN11
claudin 11
- HGNC 8514(opens in a new tab)
- Ensembl gene ENSG00000013297(opens in a new tab)
- NCBI Gene 5010(opens in a new tab)
Summary
- Cytogenetic location
- 3q26.2
- Coordinates
- Chromosome 3: 170,418,868–170,434,691 (GRCh38)
- Exons
- 3 exons across 15.8 kb
- Protein
- 207 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- OSP
- Previous symbols
- OTM
- MANE Select transcript
- ENST00000064724.8NM_005602.6
- 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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Get my Genome TestCurated reports relevant to this gene
Pelizaeus-Merzbacher Disease & Hypomyelinating Leukodystrophies
- Hypomyelinating leukodystrophy 22 (CLDN11)Autosomal dominant
A rare inherited form of hypomyelinating leukodystrophy, in which myelin in the brain does not form normally, causing delayed development and movement problems.
- ClinGen rates the link moderate
- 1 GenCC submitter rates it definitive or strong
Broader groupings
Other Inherited Leukodystrophies
- Leukodystrophy (other and unspecified types)
One of 80 genes linked to it
Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.
- ClinGen rates the link moderate
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How CLDN11 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 2.8 kb of the gene's 15.8 kb; 624 of those bases code for the protein.
How a genome test reads CLDN11
1
position in CLDN11 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 15.8 kb of CLDN11, introns included, not only the 2.8 kb of exons.
Traits linked to CLDN11
The Human Phenotype Ontology lists these as features of the rare conditions CLDN11 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.). CLDN11 gene: claudin 11. Retrieved 17 October 2026, from https://dantelabs.com/genes/cldn11
Dante Labs. CLDN11 gene: claudin 11 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cldn11
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