Gene
RNU2-2
RNA, U2 small nuclear 2
- HGNC 10152↗(opens in a new tab)
- Ensembl gene ENSG00000222328↗(opens in a new tab)
- NCBI Gene 26855↗(opens in a new tab)
Summary
- Cytogenetic location
- 11q12.3
- Coordinates
- Chromosome 11: 62,841,619–62,841,809 (GRCh38)
- Exons
- 1 exon across 0.2 kb
- Also known as
- U2
- Previous symbols
- RNU2B, RNU2-2P
- MANE Select transcript
- ENST00000410396.1NR_199791.1
- Locus type
- RNA, small nuclear
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Epilepsy (Full Panel)
- Epilepsy
One of 171 genes linked to it
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
- ClinGen rates the link strong
- 1 GenCC submitter rates it definitive or strong
How RNU2-2 is laid out
- 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 0.2 kb of the gene's 0.2 kb.
How a genome test reads RNU2-2
3
positions in RNU2-2 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 0.2 kb of RNU2-2, introns included, not only the 0.2 kb of exons.
Genes linked to the same conditions
- AARS1alanyl-tRNA synthetase 1Shares 1 condition
- ABAT4-aminobutyrate aminotransferaseShares 1 condition
- ACTL6Bactin like 6BShares 1 condition
- ADAM22ADAM metallopeptidase domain 22Shares 1 condition
- ALDH7A1aldehyde dehydrogenase 7 family member A1Shares 1 condition
- ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunitShares 1 condition
- AP3B2adaptor related protein complex 3 subunit beta 2Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
- ARV1ARV1 fatty acid homeostasis modulatorShares 1 condition
- ARXaristaless related homeoboxShares 1 condition
- ATP1A2ATPase Na+/K+ transporting subunit alpha 2Shares 1 condition
- ATP1A3ATPase Na+/K+ transporting subunit alpha 3Shares 1 condition
Traits linked to RNU2-2
The Human Phenotype Ontology lists these as features of the rare conditions RNU2-2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal autonomic nervous system physiology
- Abnormal social development
- Attention deficit
- Autism
- Babinski sign
- Choking episodes
- Chorea
- Clonic seizure
Show 72 more traits
- CNS hypomyelination
- Coma
- Delayed ability to roll over
- Dystonia
- Epileptic encephalopathy
- Falls
- Focal impaired awareness seizure
- Global developmental delay
- Happy demeanor
- Inability to coordinate movements when walking
- Incoordination
- Intellectual disability
- Interictal EEG abnormality
- IQ less than 20
- Irritability
- Isometric tremor
- Jerking
- Loss of ability to walk
- No social interaction
- Obstructive sleep apnea
- Parkinsonism
- Persistent head lag
- Poor eye contact
- Recurrent hand flapping
- Reduced social smiling
- Restlessness
- Self-mutilation
- Severe global developmental delay
- Teeth grinding
- Tremor
- Unsteady walk
- Ventriculomegaly
- Absent speech development
- Delayed ability to walk
- Delayed speech and language development
- Difficulty sleeping
- Loss of developmental milestones
- Motor delay
- Repetitive movements
- Aggressive behavior
- Ataxia
- Autism spectrum disorder
- Bilateral tonic-clonic seizure with focal onset
- Delayed ability to sit
- Encephalopathy
- Generalized myoclonic seizure
- Generalized tonic seizure
- Grand mal seizures
- Infantile spasms
- Intellectual disability, severe
- IQ between 34 and 49
- More active than typical
- Orofacial dyskinesia
- Repeated seizures without recovery between them
- Seizure affecting one half of brain
- Self-injurious behavior
- Sudden loss of muscle tone
- Thin corpus callosum
- Tonic seizure
- Wide based walk
- Abnormal CNS myelination
- Can't control feelings
- Cavum septum pellucidum
- Degeneration of cerebrum
- Epileptic spasm
- Febrile seizure (within the age range of 3 months to 6 years)
- Focal clonic seizure
- Generalized-onset seizure
- Gray matter heterotopia
- Myoclonic seizure
- Reduced cerebral white matter volume
- Widened subarachnoid space
Abnormality of head or neck
- Abnormally large tongue
- Asymmetry of the posterior head
- Big lower jaw
- Broad opening between the eyelids
- Decreased facial expressions
- Deep philtrum
- Depressed nasal bridge
- Development of small head that was not present at birth
Show 32 more traits
- Downward slanting of the opening between the eyelids
- Drooling
- Drooping lower lip
- Eversion of lateral third of lower eyelids
- Eye folds
- Facial asymmetry
- Frontal bossing
- Fullness around the eyes
- High palate
- Increased size of tooth
- Long eyelashes
- Long face
- Long nasal bridge
- Long neck
- Long philtrum
- Narrow nasal bridge
- Nasal tip, upturned
- Open mouth
- Posterior plagiocephaly
- Recurrent canker sores
- Sparse eyebrow
- Sparse medial eyebrow
- Thin red part of the upper lip
- Upward slanting of the opening between the eyelids
- Wide nasal bridge
- Wry neck
- Abnormal facial shape
- Wide mouth
- Widely spaced teeth
- Abnormally small head
- Medial flaring of the eyebrow
- Thick eyebrow
Abnormality of the musculoskeletal system
- Generalized decreased muscle tone
- Kyphoscoliosis
- Low muscle tone in trunk
- Poor head control
- Prominent swayback
- Spasticity and rigidity of muscles
- Low muscle tone
- Double-Jointed
Show 1 more trait
External links
Gene records
Transcript
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.). RNU2-2 gene: RNA, U2 small nuclear 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/rnu2-2
Dante Labs. RNU2-2 gene: RNA, U2 small nuclear 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rnu2-2
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