Gene
CLCN3
Cl-/H+ antiporter 3
- HGNC 2021↗(opens in a new tab)
- Ensembl gene ENSG00000109572↗(opens in a new tab)
- NCBI Gene 1182↗(opens in a new tab)
Summary
- Cytogenetic location
- 4q33
- Coordinates
- Chromosome 4: 169,620,578–169,723,673 (GRCh38)
- Exons
- 13 exons across 103.1 kb
- Protein
- 818 amino acids
- Also known as
- CLC3, ClC-3
- MANE Select transcript
- ENST00000513761.6NM_001829.4
- 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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No Genome Test report reads CLCN3 yet. The test sequences your whole genome, so your data includes it all the same.
How CLCN3 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 6.6 kb of the gene's 103.1 kb; 2,457 of those bases code for the protein.
How a genome test reads CLCN3
11
positions in CLCN3 where ClinVar classes a change as pathogenic or likely pathogenic
7 of them (64%) fall in regions short reads find hard.
- Segmental duplications (7 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 103.1 kb of CLCN3, introns included, not only the 6.6 kb of exons.
Traits linked to CLCN3
The Human Phenotype Ontology lists these as features of the rare conditions CLCN3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal dentate nucleus morphology
- Absent speech development
- Delayed ability to walk
- Delayed CNS myelination
- Delayed fine motor development
- Delayed motor skills
- Delayed speech and language development
- Global developmental delay
Show 24 more traits
- Intellectual disability
- Lateral ventricle dilatation
- Myoclonic seizure
- Partial agenesis of the corpus callosum
- Reduced amygdala volume
- Small hippocampus
- Thin corpus callosum
- Tonic seizure
- Anxiety
- Autism spectrum disorder
- Hypoplasia of the pons
- Restlessness
- Seizure affecting one half of brain
- Self-injurious behavior
- Agenesis of corpus callosum
- Aqueductal stenosis
- Elongated superior cerebellar peduncle
- Frequent temper tantrums
- Grand mal seizures
- More active than typical
- Obsessive compulsive behavior
- Repetitive movements
- Small cerebellum
- Too much cerebrospinal fluid in the brain
Abnormality of head or neck
- Abnormally small head
- Tented mouth
- Thin red part of the upper lip
- Downward slanting of the opening between the eyelids
- Almond shaped eyes
- Asymmetry of the posterior head
- Big calvaria
- Big lower jaw
Show 22 more traits
- Broad head shape
- Bulbous nose
- Exaggerated cupid's bow
- Eye folds
- Frontal bossing
- Full cheeks
- High frontal hairline
- High palate
- Little lower jaw
- Long face
- Long philtrum
- Low frontal hairline
- Low hanging columella
- Midface retrusion
- Monobrow
- Narrow mouth
- Narrow nasal ridge
- Prominent forehead
- Prominent metopic ridge
- Short philtrum
- Thick eyebrow
- Wide fontanelles
Abnormality of the eye
- Involuntary, rapid, rhythmic eye movements
- Retinal pigment epithelial mottling
- Visual fixation instability
- Cross-eyed
- Abnormally close eyes
- Anisometropia
- Breakdown of light-sensitive cells in back of eye
- Drooping of both upper eyelids
Show 4 more traits
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.
- 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.). CLCN3 gene: Cl-/H+ antiporter 3. Retrieved 16 October 2026, from https://dantelabs.com/genes/clcn3
Dante Labs. CLCN3 gene: Cl-/H+ antiporter 3 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/clcn3
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