Gene
APC2
APC regulator of Wnt signaling pathway 2
- HGNC 24036↗(opens in a new tab)
- Ensembl gene ENSG00000115266↗(opens in a new tab)
- NCBI Gene 10297↗(opens in a new tab)
Summary
- Cytogenetic location
- 19p13.3
- Coordinates
- Chromosome 19: 1,450,121–1,473,244 (GRCh38)
- Exons
- 15 exons across 23.1 kb
- Protein
- 2,303 amino acids
- Also known as
- APCL
- MANE Select transcript
- ENST00000590469.6NM_005883.3
- 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 APC2 yet. The test sequences your whole genome, so your data includes it all the same.
How APC2 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 10.2 kb of the gene's 23.1 kb; 6,912 of those bases code for the protein.
How a genome test reads APC2
8
positions in APC2 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 23.1 kb of APC2, introns included, not only the 10.2 kb of exons.
Traits linked to APC2
The Human Phenotype Ontology lists these as features of the rare conditions APC2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Delayed fine motor development
- Delayed motor skills
- Delayed social development
- Delayed speech and language development
- EEG with polyspike wave complexes
- Epilepsy
- Fewer or absent grooves in brain
- Global developmental delay
Show 36 more traits
- Intellectual disability
- Intellectual disability, severe
- More active than typical
- Poor speech
- Ventriculomegaly
- Generalized-onset seizure
- Myoclonic seizure
- Underdevelopment of part of brain called corpus callosum
- Behavioral abnormality
- Brain imaging abnormality
- Intellectual disability, mild
- Periventricular ribbonlike heterotopia
- Aggressive behavior
- Anxiety
- Aplasia/Hypoplasia of the corpus callosum
- Autism spectrum disorder
- Brief seizures with staring spells
- Cavum septum pellucidum
- Cerebellar vermis hypoplasia
- Degeneration of cerebrum
- Difficulty making arithmetical calculations
- Focal impaired awareness seizure
- Generalized myoclonic seizure
- Grand mal seizures
- Hypoplasia of the pons
- Hypsarrhythmia
- Incoordination
- Infantile spasms
- IQ between 34 and 49
- Small brainstem
- Small cerebellum
- Tremor
- Astrocytoma
- Attention deficit
- Cancer of early nerve cells
- Thick cerebral cortex
Abnormality of head or neck
- Big calvaria
- Big lower jaw
- Long face
- Long, narrow head
- Narrow palate
- Prominent nose
- Relatively large head
- Wide nasal bridge
Show 13 more traits
- Coarse facial features
- Downward slanting of the opening between the eyelids
- Increased head circumference
- Narrow face
- Prominent forehead
- Sparse scalp hair at front of head
- Tall chin
- Abnormal dentition
- Enlarged cisterna magna
- Absence of adult teeth
- Deformity of the skull
- Delayed eruption of permanent teeth
- Failure of development of between one and six teeth
Abnormality of limbs
- Short fingers or toes
- Increased arm span
- Dropped arches
- Fluid accumulation in lower limbs
- Large hands
- Ankle flexion contracture
- Bilateral camptodactyly
- Club feet
Show 2 more traits
Abnormality of the musculoskeletal system
- Low muscle tone
- Advanced bone age
- Double-Jointed
- Scoliosis
- Spasticity and rigidity of muscles
- Flexed joint that cannot be straightened
- Hunched back
- Spastic tetraplegia
Show 2 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.). APC2 gene: APC regulator of Wnt signaling pathway 2. Retrieved 16 October 2026, from https://dantelabs.com/genes/apc2
Dante Labs. APC2 gene: APC regulator of Wnt signaling pathway 2 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/apc2
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