Gene
PIK3CA
phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha
- HGNC 8975↗(opens in a new tab)
- Ensembl gene ENSG00000121879↗(opens in a new tab)
- NCBI Gene 5290↗(opens in a new tab)
Summary
- Cytogenetic location
- 3q26.32
- Coordinates
- Chromosome 3: 179,148,357–179,240,093 (GRCh38)
- Exons
- 21 exons across 91.7 kb
- Protein
- 1,068 amino acids
- Also known as
- PI3K
- MANE Select transcript
- ENST00000263967.4NM_006218.4
- 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 PIK3CA yet. The test sequences your whole genome, so your data includes it all the same.
How PIK3CA 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 9.3 kb of the gene's 91.7 kb; 3,207 of those bases code for the protein.
How a genome test reads PIK3CA
73
positions in PIK3CA where ClinVar classes a change as pathogenic or likely pathogenic
11 of them (15%) fall in regions short reads find hard.
- Low mappability (11 sites)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
- Segmental duplications (11 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 91.7 kb of PIK3CA, introns included, not only the 9.3 kb of exons.
Traits linked to PIK3CA
The Human Phenotype Ontology lists these as features of the rare conditions PIK3CA can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Epilepsy
- Glioblastoma multiforme
- Headache
- Hyperintensity of cerebral white matter on MRI
- Interictal EEG abnormality
- Intracranial meningioma
- Abnormal brain FDG positron emission tomography
- Abnormal shape of nervous system
Show 84 more traits
- Absent/small cerebellum
- Anxiety
- Attention deficit
- Behavioral abnormality
- Depression
- EEG with burst suppression
- EEG with focal sharp slow waves
- EEG with focal spikes
- EEG with polyspike wave complexes
- Focal cortical dysplasia
- Focal motor seizure
- Focal T2 hyperintense brainstem lesion
- Focal T2 hypointense brainstem lesion
- Focal T2 hypointense thalamic lesion
- Global developmental delay
- Hemihypsarrhythmia
- Hemimegalencephaly
- Intellectual disability
- Irritability
- Migraine
- More grooves in brain
- Nerve tumor
- Numbness
- Pins and needles feeling
- Rise in pressure inside skull
- Seizure affecting one half of brain
- Too much cerebrospinal fluid in the brain
- Ventriculomegaly
- Abnormal central motor function
- Abnormal central sensory function
- Abnormal gait
- Abnormal neuron shape
- Abnormal pyramidal sign
- Abnormal social behavior
- Abnormal speech pattern
- Abnormality of the cerebellum
- Aplasia/Hypoplasia of the corpus callosum
- Ataxia
- Benign neoplasm of the central nervous system
- Cancer of early nerve cells
- Chiari malformation
- Cognitive impairment
- Cranial nerve paralysis
- Difficulty articulating speech
- Difficulty sleeping
- Disorder of involuntary muscle movements
- Disturbed sensory perception
- Dysgraphia
- Epileptic spasm
- Fewer and broader ridges in brain
- Focal tonic seizure
- Gliosis
- Gray matter heterotopia
- Hallucinations
- Intellectual disability, mild
- Intellectual disability, severe
- Jerking
- Loss of developmental milestones
- Memory impairment
- Meningocele
- Multiple mucosal neuromas
- Myelomeningocele
- Paralysis or weakness of one side of body
- Pauses in breathing while sleeping
- Repeated seizures without recovery between them
- Spinal cord lesion
- Spinal dysraphism
- Spinal meningioma
- Split spine
- Sudden loss of muscle tone
- Tethered cord
- Trigeminal neuralgia
- Weakness of one side of body
- Astrocytoma
- Brain stem compression
- Can't control feelings
- Excessive daytime sleepiness
- Ganglioneuroma
- Noncancerous growth of membranes covering brain
- Spasms on one side of the face
- Transient global amnesia
- Cavum septum pellucidum
- Enlarged brain
- Intention tremor
Abnormality of head or neck
- Capillary malformation of the lip
- Dimple chin
- Enlargement of half of face
- Facial asymmetry
- Adenoma sebaceum
- Big calvaria
- Narrow eyelid opening
- Wide mouth
Show 34 more traits
- Abnormality of head shape
- Abnormality of the skull
- Abnormally large tongue
- Big lower jaw
- Big maxilla
- Deviated nasal septum
- Early eruption of teeth
- Enlargement of parotid gland
- Frontal bossing
- Full cheeks
- High forehead
- Prominence of cheekbone
- Abnormality of the sense of smell
- Abnormally small head
- Absence of adult teeth
- Adhesion of the temporomandibular joint
- Bad bite
- Bell's palsy
- Cancer of salivary gland
- Depressed nasal bridge
- Increased size of tooth
- Webbed neck
- Neoplasm of the tongue
- Broad forehead
- Decreased size of maxilla
- Downward slanting of the opening between the eyelids
- Enlargement of skull bones
- Eye folds
- Grooved tongue
- High palate
- Little lower jaw
- Narrow mouth
- Progressively abnormally enlarging cranium
- Smooth philtrum
Abnormality of the cardiovascular system
- Cerebral cavernous malformation
- Strawberry birthmark
- Venous malformation
- Arteriovenous malformation
- Lymphangioma
- Poorly functioning veins
- Strawberry mark
- Telangiectasia of the skin
Show 27 more traits
- Visceral angiomatosis
- Abnormal lymphatic vessel morphology
- Abnormality of the cerebral blood vessels
- Blood clot in artery of lung
- Collection of dilated blood vessels that forms mass
- Cutis marmorata
- Enlarged tonsils
- Varicose veins
- Vascular skin abnormality
- Abnormal cardiovascular system morphology
- Abnormal heart rate
- Abnormal tricuspid valve morphology
- Abnormal vein
- Abnormality of lung artery
- Abnormality of the lymphatic system
- An opening in the wall separating the top two chambers of the heart
- Cardiac diverticulum
- Cardiac failure
- Choroidal hemangioma
- Disruption of blood oxygen supply to brain
- Increased spleen size
- Patent ductus arteriosus
- Peripheral arteriovenous fistula
- Retinal cavernous hemangioma
- Fainting spell
- Abnormality of the cardiovascular system
- Hole in heart wall separating two lower heart chambers
Abnormality of the endocrine system
- Decreased circulating ACTH concentration
- Decreased circulating follicle stimulating hormone concentration
- Decreased circulating luteinizing hormone level
- Decreased serum estradiol
- Decreased serum testosterone level
- Hypogonadotropic hypogonadism
- Increased circulating prolactin concentration
- Low blood cortisol level
Show 16 more traits
- Low thyroid gland function due to abnormal pituitary gland
- Secondary growth hormone deficiency
- Abnormal hypothalamus physiology
- Enlarged pituitary gland
- Hypothalamic hypothyroidism
- Neoplasm of the anterior pituitary
- Neoplasm of the thyroid gland
- Noncancerous tumor in pituitary gland
- Reduced circulating prolactin concentration
- Adrenal calcification
- Neoplasm of the posterior pituitary
- Enlarged thyroid gland in neck
- Overactive thyroid
- Thyroid adenoma
- Thyroid gland inflammation
- Underactive thyroid
Abnormality of the genitourinary system
- Abnormal absence of menstruation
- Difficulty getting a full erection
- Small kidneys
- Abnormality of the menstrual cycle
- Absent/small kidney
- Cystic kidney disease
- Endometrial carcinoma
- Enlarged kidney
Show 16 more traits
- Epididymal cyst
- Hydrocele testis
- Kidney cancer
- Malignant genitourinary tract tumor
- Nephroblastoma
- Ovarian cancer
- Ovarian serous cystadenoma
- Testicular lipomatosis
- Urinary tract neoplasm
- Loss of bladder control
- Cancer starting in small tubes in kidneys
- Dysgerminoma
- Ovarian cyst
- Ovarian papillary adenocarcinoma
- Transitional cell carcinoma of the bladder
- Uterine leiomyosarcoma
Abnormality of limbs
- Asymmetric overgrowth
- Finger overgrowth
- Left and right leg differ in length or width
- Duplication of bones of the toes
- Extra finger
- Finger syndactyly
- Fused toes
- Unequal size of arms
Show 14 more traits
- Broad palm
- Bulbous tips of toes
- Gap between 1st and 2nd toes
- Overgrowth of one arm
- Overgrowth of one leg
- Ulnar deviation of the hand
- Cutaneous syndactyly
- Decreased arm strength
- Dislocated kneecap
- Lower limb muscle weakness
- More than five fingers or toes on hands or feet
- Webbed 2nd-4th toes
- Thickening of the outer layer of the skin of the palms and soles
- Webbed fingers or toes
Abnormality of the digestive system
- Abdominal pain
- Constipation
- Malabsorption
- Colon cancer
- Nausea and vomiting
- Rectal tumor
- Stomach tumor
- Accumulation of fluid in the abdomen
Show 13 more traits
- Cancer of the pancreas
- Enlarged liver
- Episodic vomiting
- Growths in inner lining of intestine
- Hepatocellular carcinoma
- Liver cancer
- Pancreatic adenocarcinoma
- Colonic diverticula
- Hamartomatous polyposis
- Hereditary nonpolyposis colorectal carcinoma
- Micronodular cirrhosis
- Stomach cancer
- Subacute progressive viral hepatitis
Abnormality of blood and blood-forming tissues
- Bleeding in brain
- Gastrointestinal bleeding
- Blood clot in vein
- Abnormal blood clot
- Blood tumor
- Hypercoagulability
- Internal bleeding
- Microcytic anemia
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.). PIK3CA gene: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha. Retrieved 17 October 2026, from https://dantelabs.com/genes/pik3ca
Dante Labs. PIK3CA gene: phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pik3ca
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