Gene
RNU12
RNA, U12 small nuclear
- HGNC 19380↗(opens in a new tab)
- Ensembl gene ENSG00000276027↗(opens in a new tab)
- NCBI Gene 267010↗(opens in a new tab)
Summary
- Cytogenetic location
- 22q13.2
- Coordinates
- Chromosome 22: 42,615,244–42,615,393 (GRCh38)
- Exons
- 1 exon across 0.2 kb
- Also known as
- RNU12-1
- Previous symbols
- RNU12P
- MANE Select transcript
- ENST00000362512.1NR_029422.2
- Locus type
- RNA, small nuclear
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Syndromic Craniosynostosis
Conditions combining early skull suture closure with other features, including Apert, Crouzon, Pfeiffer, Muenke and Saethre-Chotzen syndromes, caused by genes such as FGFR2, FGFR3, FGFR1, TWIST1, TCF12 and ERF.
- 1 GenCC submitter rates it definitive or strong
What knowing changes
Early diagnosis allows timely surgery and monitoring of head growth, vision and hearing; milder forms such as Muenke syndrome can go unrecognised in adults, which is relevant to family planning.
How RNU12 is laid out
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
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 RNU12
7
positions in RNU12 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 RNU12, introns included, not only the 0.2 kb of exons.
Genes linked to the same conditions
- CYP26B1cytochrome P450 family 26 subfamily B member 1Shares 1 condition
- ERFETS2 repressor factorShares 1 condition
- FGFR1fibroblast growth factor receptor 1Shares 1 condition
- FGFR2fibroblast growth factor receptor 2Shares 1 condition
- FGFR3fibroblast growth factor receptor 3Shares 1 condition
- IFT122intraflagellar transport 122Shares 1 condition
- IFT43intraflagellar transport 43Shares 1 condition
- IFT52intraflagellar transport 52Shares 1 condition
- IL11RAinterleukin 11 receptor subunit alphaShares 1 condition
- KAT6Alysine acetyltransferase 6AShares 1 condition
- MEGF8multiple EGF like domains 8Shares 1 condition
- MSX2msh homeobox 2Shares 1 condition
Traits linked to RNU12
The Human Phenotype Ontology lists these as features of the rare conditions RNU12 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Coronal craniosynostosis
- Enlarged cisterna magna
- Holes in parietal bones
- Wide fontanelles
- Abnormal tooth enamel
- Abnormality of dental shape
- Abnormality of the palate
- Absent eyebrow
Show 19 more traits
- Absent eyelashes
- Broad head shape
- Delayed cranial suture closure
- Frontal bossing
- Large posterior fontanelle
- Wider-than-typical soft spot of skull
- Early closure of midline skull joint
- Full lips
- Lambdoidal craniosynostosis
- Little lower jaw
- Wide mouth
- Zygomatic flattening
- Asymmetry of the posterior head
- Cleft palate
- Everted eyelid
- Midface retrusion
- Sparse eyebrow
- Sparse eyelashes
- Sparse scalp hair
Abnormality of the nervous system
- Delayed ability to walk
- Dilated fourth ventricle
- Head titubation
- Inability to coordinate movements when walking
- Instability or lack of coordination of central trunk muscles
- Intention tremor
- Small cerebellum
- Wide based walk
Show 13 more traits
- Difficulty articulating speech
- Abnormal gait
- Cerebellar vermis atrophy
- Degeneration of cerebellum
- Delayed motor skills
- Febrile seizure (within the age range of 3 months to 6 years)
- Global developmental delay
- Intellectual disability
- Neurodevelopmental abnormality
- Poor fine motor coordination
- Focal impaired awareness seizure
- Abnormal corpus callosum morphology
- Decrease in size of the outer layer of the brain due to loss of brain cells
Abnormality of the musculoskeletal system
- Frequent falls
- Generalized muscle weakness
- Abnormal collarbone
- Absent collarbone
- Delayed bone maturation
- Low muscle tone
- Short collarbone
- Shorter than typical length between neck and abdomen
Show 3 more traits
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.). RNU12 gene: RNA, U12 small nuclear. Retrieved 17 October 2026, from https://dantelabs.com/genes/rnu12
Dante Labs. RNU12 gene: RNA, U12 small nuclear [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rnu12
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