Gene
MSL2
MSL complex subunit 2
- HGNC 25544↗(opens in a new tab)
- Ensembl gene ENSG00000174579↗(opens in a new tab)
- NCBI Gene 55167↗(opens in a new tab)
Summary
- Cytogenetic location
- 3q22.3
- Coordinates
- Chromosome 3: 136,148,917–136,196,335 (GRCh38)
- Exons
- 2 exons across 47.4 kb
- Protein
- 577 amino acids
- Also known as
- FLJ10546, KIAA1585, msl-2
- Previous symbols
- RNF184, MSL2L1
- MANE Select transcript
- ENST00000309993.3NM_018133.4
- 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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No Genome Test report reads MSL2 yet. The test sequences your whole genome, so your data includes it all the same.
How MSL2 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 5.2 kb of the gene's 47.4 kb; 1,734 of those bases code for the protein.
How a genome test reads MSL2
8
positions in MSL2 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 47.4 kb of MSL2, introns included, not only the 5.2 kb of exons.
Traits linked to MSL2
The Human Phenotype Ontology lists these as features of the rare conditions MSL2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Age-inappropriate oppositional behavior
- Autism
- Bilateral tonic-clonic seizure with generalized onset
- Cerebral palsy
- Clonus
- Clumsiness
- Degeneration of cerebellum
- Delayed CNS myelination
Show 41 more traits
- Delayed motor skills
- EEG with burst suppression
- Epileptic encephalopathy
- Epileptic spasm
- Extra-axial cerebrospinal fluid accumulation
- Febrile seizure (within the age range of 3 months to 6 years)
- Focal impaired awareness seizure
- Hypsarrhythmia
- Inability to coordinate movements when walking
- Incoordination
- IQ between 34 and 49
- Loss of developmental milestones
- More active than typical
- Motor delay
- Myoclonic absence seizure
- Myoclonic seizure
- Obstructive sleep apnea
- Receptive language delay
- Repetitive movements
- Snoring
- Thin corpus callosum
- Waking up screaming
- Global developmental delay
- Intellectual disability
- Aggressive behavior
- Anxiety
- Autism spectrum disorder
- Cavum septum pellucidum
- Delayed speech and language development
- Echoing another person's speech
- EEG abnormality
- Epilepsy
- More grooves in brain
- Motor regression
- Periventricular nodular heterotopia
- Recurrent hand flapping
- Schizencephaly
- Self-injurious behavior
- Boiling mad
- Communication delay
- Spinning
Abnormality of head or neck
- Asymmetry of the posterior head
- Broad philtrum
- Drooling
- Little lower jaw
- Narrow jaw
- Smooth philtrum
- Webbed neck
- Abnormal fontanelle morphology
Show 17 more traits
- Abnormality of cranium
- Abnormally small head
- Big calvaria
- Decreased volume of lip
- Downward slanting of the opening between the eyelids
- Eye folds
- Frontal bossing
- Long face
- Narrow forehead
- Receding chin
- Bifid uvula
- Downturned corners of mouth
- High palate
- Midface retrusion
- Tongue tied
- Triangular face
- Upward slanting of the opening between the eyelids
Abnormality of the eye
- Close sighted
- Clouding of the lens of the eye
- Farsightedness
- Severe near sightedness
- Wide-set eyes
- Deeply set eye
- Outward facing eye ball
- Abnormally close eyes
Show 3 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.
- 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.). MSL2 gene: MSL complex subunit 2. Retrieved 17 October 2026, from https://dantelabs.com/genes/msl2
Dante Labs. MSL2 gene: MSL complex subunit 2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/msl2
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