Gene
DYRK1A
dual specificity tyrosine phosphorylation regulated kinase 1A
- HGNC 3091↗(opens in a new tab)
- Ensembl gene ENSG00000157540↗(opens in a new tab)
- NCBI Gene 1859↗(opens in a new tab)
Summary
- Cytogenetic location
- 21q22.13
- Coordinates
- Chromosome 21: 37,366,773–37,526,358 (GRCh38)
- Exons
- 12 exons across 159.6 kb
- Protein
- 754 amino acids
- Previous symbols
- DYRK1, DYRK, MNBH
- MANE Select transcript
- ENST00000647188.2NM_001347721.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
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Intellectual Disability
One of 233 genes linked to it
- 3 GenCC submitters rate it definitive or strong
How DYRK1A 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 17 kb of the gene's 159.6 kb; 2,265 of those bases code for the protein.
How a genome test reads DYRK1A
158
positions in DYRK1A 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 159.6 kb of DYRK1A, introns included, not only the 17 kb of exons.
Genes linked to the same 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
- ARID1AAT-rich interaction domain 1AShares 1 condition
Traits linked to DYRK1A
The Human Phenotype Ontology lists these as features of the rare conditions DYRK1A can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Delayed speech and language development
- Global developmental delay
- Intellectual disability, severe
- Severe global developmental delay
- Abnormal gait
- Behavioral abnormality
- Brain imaging abnormality
- Epilepsy
Show 35 more traits
- Intellectual disability
- Repetitive movements
- Absent speech development
- Anxiety
- Ataxia
- Autism
- Autism spectrum disorder
- CNS hypomyelination
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Febrile seizure (within the age range of 3 months to 6 years)
- Grand mal seizures
- Incoordination
- More active than typical
- Motor delay
- Poor speech
- Small brainstem
- Stereotypical hand wringing
- Thin corpus callosum
- Tongue thrusting
- Ventriculomegaly
- Wide based walk
- Abnormal shape of brainstem
- Aggressive behavior
- Attention deficit
- Difficulty sleeping
- Generalized myoclonic seizure
- Gliosis
- Happy demeanor
- Inappropriate laughter
- Simple febrile seizure
- Sudden loss of muscle tone
- Typical absence seizure
- Underdevelopment of part of brain called corpus callosum
- Abnormality of neuronal migration
- Intellectual disability, mild
Abnormality of head or neck
- Abnormally small head
- Downturned corners of mouth
- Downward slanting of the opening between the eyelids
- Narrow forehead
- Thin red part of the upper lip
- Abnormal facial shape
- Little lower jaw
- Bulbous nose
Show 17 more traits
- Development of small head that was not present at birth
- Enlarged cisterna magna
- Full lower lip
- Long face
- Prominent back of the head
- Prominent nasal bridge
- Small head present at birth
- Smooth philtrum
- Widely spaced teeth
- Broad chin
- Broad nasal tip
- Receding chin
- Short nose
- Underdeveloped tissue around nostril
- Upward slanting of the opening between the eyelids
- Cleft soft palate
- Extra teeth
Abnormality of the genitourinary system
- Hydronephrosis
- Abnormality of the genitourinary system
- Absent kidney on one side
- Chordee
- Dilatation of the renal pelvis
- Frequent urinary tract infections
- Hypospadias
- Scrotum surrounds penis
Show 4 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.
- 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.). DYRK1A gene: dual specificity tyrosine phosphorylation regulated kinase 1A. Retrieved 17 October 2026, from https://dantelabs.com/genes/dyrk1a
Dante Labs. DYRK1A gene: dual specificity tyrosine phosphorylation regulated kinase 1A [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/dyrk1a
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