Gene
CNTNAP2
contactin associated protein 2
- HGNC 13830↗(opens in a new tab)
- Ensembl gene ENSG00000174469↗(opens in a new tab)
- NCBI Gene 26047↗(opens in a new tab)
Summary
- Cytogenetic location
- 7q35-q36.1
- Coordinates
- Chromosome 7: 146,116,801–148,420,998 (GRCh38)
- Exons
- 24 exons across 2,304.2 kb
- Protein
- 1,331 amino acids
- Also known as
- Caspr2, KIAA0868, NRXN4
- MANE Select transcript
- ENST00000361727.8NM_014141.6
- 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
No Genome Test report reads CNTNAP2 yet. The test sequences your whole genome, so your data includes it all the same.
How CNTNAP2 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 9.5 kb of the gene's 2,304.2 kb; 3,996 of those bases code for the protein.
How a genome test reads CNTNAP2
79
positions in CNTNAP2 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 2,304.2 kb of CNTNAP2, introns included, not only the 9.5 kb of exons.
Traits linked to CNTNAP2
The Human Phenotype Ontology lists these as features of the rare conditions CNTNAP2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Focal impaired awareness seizure
- Grand mal seizures
- Intellectual disability
- Receptive language delay
- Schizophrenia
- Seizure affecting one half of brain
- Abnormal neuron shape
- Abnormality of neuronal migration
Show 56 more traits
- Attention deficit
- Delayed ability to walk
- Delayed motor skills
- Delayed speech and language development
- EEG abnormality
- Epilepsy
- Global developmental delay
- Aggressive behavior
- Ataxia
- Autism spectrum disorder
- Bilateral tonic-clonic seizure with focal onset
- Cerebellar vermis hypoplasia
- Decreased reflex response
- EEG with generalized epileptiform discharges
- EEG with generalized polyspikes
- EEG with generalized slow activity
- Focal aware seizure
- Intellectual disability, severe
- Interictal epileptiform activity
- Mental deterioration
- Motor delay
- Poor eye contact
- Poor speech
- Progressive language deterioration
- Repeated seizures without recovery between them
- Repetitive movements
- Small cerebellum
- Abnormal temper tantrums
- Absent reflexes
- Absent speech development
- Autism
- Behavioral abnormality
- Cerebellar vermis atrophy
- Cerebral palsy
- Degeneration of cerebrum
- EEG with focal spikes
- Focal cortical dysplasia
- Focal impaired awareness emotional seizure with fear/anxiety/panic
- Generalized convulsive status epilepticus
- Infantile spasms
- IQ between 34 and 49
- Low frustration tolerance
- More active than typical
- Periventricular leukomalacia
- Reduced cerebral white matter volume
- Self-mutilation
- Skin-picking
- Stereotypical hand wringing
- Sudden loss of muscle tone
- Thin corpus callosum
- Tonic seizure
- Thick corpus callosum
- Diminished deep tendon reflex
- Generalized-onset seizure
- Language impairment
- Poor social interactions
Abnormality of head or neck
- Big calvaria
- Abnormally small head
- Full lips
- Downward slanting of the opening between the eyelids
- Frontal bossing
- Narrow forehead
- Short nose
- Smooth philtrum
Show 21 more traits
- Sparse eyebrow
- Wide mouth
- Big lower jaw
- Broad forehead
- Bulbous nose
- Coarse facial features
- Decreased size of tooth
- Eye folds
- High palate
- Long eyelashes
- Low frontal hairline
- Low hanging columella
- Monobrow
- Prominent forehead
- Protruding tongue
- Short columella
- Short philtrum
- Tented mouth
- Thin red part of the upper lip
- Upward slanting of the opening between the eyelids
- Widely spaced teeth
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.). CNTNAP2 gene: contactin associated protein 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/cntnap2
Dante Labs. CNTNAP2 gene: contactin associated protein 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cntnap2
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