Gene
CTNNB1
catenin beta 1
- HGNC 2514↗(opens in a new tab)
- Ensembl gene ENSG00000168036↗(opens in a new tab)
- NCBI Gene 1499↗(opens in a new tab)
Summary
- Cytogenetic location
- 3p22.1
- Coordinates
- Chromosome 3: 41,199,505–41,240,443 (GRCh38)
- Exons
- 15 exons across 40.9 kb
- Protein
- 781 amino acids
- Also known as
- beta-catenin, armadillo
- Previous symbols
- CTNNB
- MANE Select transcript
- ENST00000349496.11NM_001904.4
- 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.
Read CTNNB1, and the rest of your genome, with one test.
From $449Free shipping · Results in 6–8 weeks
Get my Genome TestCurated reports relevant to this gene
Vitreoretinopathy
- Vitreoretinal Degeneration
- 2 GenCC submitters rate it definitive or strong
Broader groupings
Intellectual Disability
One of 233 genes linked to it
- 4 GenCC submitters rate it definitive or strong
How CTNNB1 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 3.7 kb of the gene's 40.9 kb; 2,346 of those bases code for the protein.
How a genome test reads CTNNB1
100
positions in CTNNB1 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 40.9 kb of CTNNB1, introns included, not only the 3.7 kb of exons.
Genes linked to the same conditions
- DYNC1H1dynein cytoplasmic 1 heavy chain 1Shares 2 conditions
- ACSL4acyl-CoA synthetase long chain family member 4Shares 1 condition
- ADKadenosine kinaseShares 1 condition
- ADNPactivity dependent neuroprotector homeoboxShares 1 condition
- AFF2ALF transcription elongation factor 2Shares 1 condition
- AHDC1AT-hook DNA binding motif containing 1Shares 1 condition
- ALKBH8alkB homolog 8, tRNA methyltransferaseShares 1 condition
- ANK3ankyrin 3Shares 1 condition
- ANKRD11ankyrin repeat domain 11Shares 1 condition
- AP1S2adaptor related protein complex 1 subunit sigma 2Shares 1 condition
- AP2M1adaptor related protein complex 2 subunit mu 1Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
Traits linked to CTNNB1
The Human Phenotype Ontology lists these as features of the rare conditions CTNNB1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal shape of hypothalamus
- Global developmental delay
- Intellectual disability
- Underdevelopment of part of brain called corpus callosum
- Intracranial cystic lesion
- Motor delay
- Poor speech
- Anxiety
Show 34 more traits
- Behavioral abnormality
- Delayed ability to sit
- Delayed ability to walk
- Difficulty sleeping
- Excessive daytime sleepiness
- Headache
- Irritability
- Loss of developmental milestones
- Panic attack
- Abnormal temper tantrums
- Aggressive behavior
- Autism spectrum disorder
- Delayed ability to crawl
- Delayed CNS myelination
- Difficulty finding words
- Echoing another person's speech
- Fluid-filled cyst in spinal cord
- Inability to speak
- Increased appetite
- Intellectual disability, mild
- Mild global developmental delay
- Pauses in breathing while sleeping
- Restlessness
- Rise in pressure inside skull
- Self-injurious behavior
- Self-mutilation
- Specific learning disability
- Spina bifida occulta
- Tethered cord
- Too much cerebrospinal fluid in the brain
- Ventriculomegaly
- Coma
- Epilepsy
- Medulloblastoma
Abnormality of head or neck
- Broad nasal tip
- Small head present at birth
- Abnormal dentition
- Abnormal facial shape
- Abnormal oral frenulum morphology
- Abnormally small head
- Cone shaped tooth
- Early eruption of teeth
Show 31 more traits
- Enlargement of facial bones
- Failure of development of between one and six teeth
- Increased thickness of skull cap
- Only one upper front tooth
- Bifid uvula
- Big calvaria
- Cleft of the face
- Cleft palate
- Delayed cranial suture closure
- Delayed eruption of teeth
- Flat back of skull
- Frontal bossing
- High, narrow palate
- Prominent forehead
- Submucous cleft hard palate
- Wide fontanelles
- Wide nasal bridge
- Bell's palsy
- Broad head shape
- Eye folds
- Flat face
- Little lower jaw
- Long philtrum
- Low hanging columella
- Receding chin
- Smooth philtrum
- Thin red part of the upper lip
- Underdeveloped tissue around nostril
- Abnormality of the bone of the forehead
- Abnormality of the nasal bone
- High palate
Abnormality of the eye
- Vitreoretinopathy
- Abnormal optic disc morphology
- Abnormal retinal pigmentation
- Abnormal visual field test
- Abnormality of the eye
- Bitemporal hemianopia
- Decreased clarity of vision
- Falciform retinal fold
Show 25 more traits
- Papilledema
- Progressive visual field defects
- Slow decrease in sharpness of vision
- Subretinal fluid
- Tractional retinal detachment
- Abnormally small eyeball
- Blindness
- Chorioretinal atrophy
- Close sighted
- Clouding of the lens of the eye
- Cross-eyed
- Epiretinal membrane
- Eye floaters
- Farsightedness
- Macular edema
- Marked vision impairment
- Optic atrophy
- Rhegmatogenous retinal detachment
- Exudative vitreoretinopathy
- Sudden decrease in vision
- Involuntary, rapid, rhythmic eye movements
- Retina degeneration
- Retinal detachment
- Retinal fold
- Retinal hole
Abnormality of the endocrine system
- Adrenocortical carcinoma
- Enlarged pituitary gland
- Hypopituitarism
- Neoplasm of the anterior pituitary
- Abnormal circulating dehydroepiandrosterone concentration
- Adrenocorticotropic hormone deficiency
- Central adrenal insufficiency
- Central diabetes insipidus
Show 12 more traits
- Decreased activity of gonads
- Elevated plasma aldosterone
- Elevated serum 11-deoxycortisol
- Hypogonadotropic hypogonadism
- Increased circulating androgen concentration
- Increased circulating androstenedione concentration
- Increased circulating cortisol level
- Increased circulating prolactin concentration
- Increased serum estradiol
- Low thyroid gland function due to abnormal pituitary gland
- Paradoxical increased cortisol secretion on dexamethasone suppression test
- Delayed puberty
Abnormality of the integument
- Pilomatrixoma
- Abnormal fingernails
- Abnormal toenail development
- Abnormality of the toenail
- Firm lump under the skin
- Poor nail formation
- Small nail
- Underdeveloped toenails
Show 5 more traits
Abnormality of the cardiovascular system
- Avascular peripheral retina
- High blood pressure
- Palpitations
- Retinal neovascularization
- Disruption of blood oxygen supply to brain
- Macular exudate
- Macular telangiectasia
- Narrowing of aorta
Show 2 more traits
Growth abnormality
- Mild short stature
- Increased body weight
- Obesity
- Weight loss
- Growth delay
- Proportionate short stature
- Severe short stature
- Small for gestational age
Show 1 more trait
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.). CTNNB1 gene: catenin beta 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/ctnnb1
Dante Labs. CTNNB1 gene: catenin beta 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ctnnb1
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks