Gene
SON
SON DNA and RNA binding protein
- HGNC 11183↗(opens in a new tab)
- Ensembl gene ENSG00000159140↗(opens in a new tab)
- NCBI Gene 6651↗(opens in a new tab)
Summary
- Cytogenetic location
- 21q22.11
- Coordinates
- Chromosome 21: 33,543,038–33,577,481 (GRCh38)
- Exons
- 12 exons across 34.4 kb
- Protein
- 2,426 amino acids
- Also known as
- DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914
- Previous symbols
- C21orf50
- MANE Select transcript
- ENST00000356577.10NM_138927.4
- 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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How SON 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 8.4 kb of the gene's 34.4 kb; 7,281 of those bases code for the protein.
How a genome test reads SON
73
positions in SON where ClinVar classes a change as pathogenic or likely pathogenic
1 of them (1.4%) falls in a region short reads find hard.
- Low mappability (1 site)Regions where 100 bp or 250 bp reads cannot be placed uniquely.
A whole genome covers all 34.4 kb of SON, introns included, not only the 8.4 kb of exons.
Traits linked to SON
The Human Phenotype Ontology lists these as features of the rare conditions SON can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Big calvaria
- Decreased size of maxilla
- Prominent forehead
- Relatively large head
- Short nose
- Sparse eyebrow
- Abnormal facial shape
- Midface retrusion
Show 24 more traits
- Decreased volume of lip
- Downward slanting of the opening between the eyelids
- Eye folds
- Bifid uvula
- Broad eyebrow
- Broad lateral eyebrow
- Cleft palate
- Deformity of the skull
- Depressed nasal bridge
- Downturned corners of mouth
- Early closure of midline skull joint
- Facial asymmetry
- Frontal bossing
- Full cheeks
- Metopic synostosis
- Narrow forehead
- Short philtrum
- Smooth philtrum
- Submucous cleft hard palate
- Submucous cleft soft palate
- Wide nasal bridge
- Abnormal dentition
- High palate
- Narrow mouth
Abnormality of the nervous system
- Delayed ability to crawl
- Delayed ability to roll over
- Delayed ability to sit
- Delayed ability to walk
- Global developmental delay
- Intellectual disability
- Intellectual disability, severe
- Abnormal shape of brain
Show 22 more traits
- Abnormal cerebral cortex morphology
- Autism spectrum disorder
- Epilepsy
- Generalized-onset seizure
- Loss of developmental milestones
- Underdevelopment of part of brain called corpus callosum
- Ventriculomegaly
- Abnormal cerebral white matter morphology
- Brief seizures with staring spells
- Cerebellar hemisphere hypoplasia
- Chiari malformation
- Dysplastic corpus callosum
- Fluid-filled sac located in membrane surrounding brain or spinal cord
- Generalized brain degeneration
- Hallucinations of sound
- Lateral ventricle dilatation
- More grooves in brain
- Periventricular leukomalacia
- Progressive ventriculomegaly
- Repeated seizures without recovery between them
- Simplified gyral pattern
- Small cerebellum
Abnormality of the digestive system
- Feeding difficulties
- Feeding difficulties in infancy
- Intestinal atresia
- Absent gallbladder
- Acid reflux
- Chronic diarrhea
- Delayed gastric emptying
- Gastrointestinal dysmotility
Show 2 more traits
Abnormality of the cardiovascular system
- Aortic regurgitation
- Abnormality of the common carotid artery
- Abnormality of the heart
- An opening in the wall separating the top two chambers of the heart
- Hole in heart wall separating two lower heart chambers
- Ischemic stroke
- Mini stroke
- Patent ductus arteriosus
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.
- 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.). SON gene: SON DNA and RNA binding protein. Retrieved 16 October 2026, from https://dantelabs.com/genes/son
Dante Labs. SON gene: SON DNA and RNA binding protein [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/son
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