Gene
TYROBP
transmembrane immune signaling adaptor TYROBP
- HGNC 12449↗(opens in a new tab)
- Ensembl gene ENSG00000011600↗(opens in a new tab)
- NCBI Gene 7305↗(opens in a new tab)
Summary
- Cytogenetic location
- 19q13.12
- Coordinates
- Chromosome 19: 35,904,403–35,908,295 (GRCh38)
- Exons
- 5 exons across 3.9 kb
- Protein
- 113 amino acids
- Inheritance
- Autosomal recessive
- Also known as
- DAP12, PLO-SL, KARAP
- Previous symbols
- PLOSL
- MANE Select transcript
- ENST00000262629.9NM_003332.4
- 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 TYROBP, 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
Adult-Onset Leukodystrophies (CSF1R, LMNB1, Nasu-Hakola)
- Nasu-Hakola disease (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy)Autosomal recessive
Changes in TYROBP or TREM2 cause bone cysts and fractures in young adulthood, followed by progressive changes in personality and memory.
- 3 GenCC submitters rate it definitive or strong
Broader groupings
Other Inherited Leukodystrophies
- Leukodystrophy (other and unspecified types)
One of 80 genes linked to it
Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.
Inheritance
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How TYROBP is laid out
- Coding sequence
- 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 0.6 kb of the gene's 3.9 kb; 342 of those bases code for the protein.
How a genome test reads TYROBP
2
positions in TYROBP 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 3.9 kb of TYROBP, introns included, not only the 0.6 kb of exons.
Genes linked to the same conditions
- TREM2triggering receptor expressed on myeloid cells 2Shares 2 conditions
- AARS1alanyl-tRNA synthetase 1Shares 1 condition
- AARS2alanyl-tRNA synthetase 2, mitochondrialShares 1 condition
- ABCD1ATP binding cassette subfamily D member 1Shares 1 condition
- ACER3alkaline ceramidase 3Shares 1 condition
- ADARadenosine deaminase RNA specificShares 1 condition
- AIMP1aminoacyl tRNA synthetase complex interacting multifunctional protein 1Shares 1 condition
- AIMP2aminoacyl tRNA synthetase complex interacting multifunctional protein 2Shares 1 condition
- ALDH3A2aldehyde dehydrogenase 3 family member A2Shares 1 condition
- ARSAarylsulfatase AShares 1 condition
- ASPAaspartoacylaseShares 1 condition
- ATP11AATPase phospholipid transporting 11AShares 1 condition
Traits linked to TYROBP
The Human Phenotype Ontology lists these as features of the rare conditions TYROBP can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Dementia
- Lateral ventricle dilatation
- Behavioral abnormality
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Disinhibition
- Frontal lobe dementia
- Irritability
- Loss of developmental milestones
Show 27 more traits
- Memory impairment
- Personality changes
- Ventriculomegaly
- Abnormal speech pattern
- Abnormality of movement
- Chorea
- Disturbed sensory perception
- Epilepsy
- Too much cerebrospinal fluid in the brain
- Abnormal gait
- Abnormal shape of upper motor neuron
- Aggressive behavior
- Apraxia
- Axonal loss
- Babinski sign
- Caudate atrophy
- Degeneration of cerebrum
- EEG abnormality
- Euphoria
- Gliosis
- Inappropriate behavior
- Jerking
- Lack of insight
- Leukoencephalopathy
- Peripheral demyelination
- Primitive reflex
- Underdevelopment of part of brain called corpus callosum
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.). TYROBP gene: transmembrane immune signaling adaptor TYROBP. Retrieved 16 October 2026, from https://dantelabs.com/genes/tyrobp
Dante Labs. TYROBP gene: transmembrane immune signaling adaptor TYROBP [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tyrobp
One test. A lifetime of answers.
From $449Free shipping · Results in 6–8 weeks