Gene
SLC25A22
solute carrier family 25 member 22
- HGNC 19954↗(opens in a new tab)
- Ensembl gene ENSG00000177542↗(opens in a new tab)
- NCBI Gene 79751↗(opens in a new tab)
Summary
- Cytogenetic location
- 11p15.5
- Coordinates
- Chromosome 11: 790,475–798,281 (GRCh38)
- Exons
- 10 exons across 7.8 kb
- Protein
- 323 amino acids
- Also known as
- GC1, FLJ13044, NET44, EIEE3, GC-1
- MANE Select transcript
- ENST00000628067.3NM_001191061.2
- 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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Epilepsy (Full Panel)
- Epilepsy
One of 171 genes linked to it
A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.
- ClinGen rates the link definitive
- 4 GenCC submitters rate it definitive or strong
How SLC25A22 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 2.6 kb of the gene's 7.8 kb; 972 of those bases code for the protein.
How a genome test reads SLC25A22
18
positions in SLC25A22 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 7.8 kb of SLC25A22, introns included, not only the 2.6 kb of exons.
Genes linked to the same conditions
- AARS1alanyl-tRNA synthetase 1Shares 1 condition
- ABAT4-aminobutyrate aminotransferaseShares 1 condition
- ACTL6Bactin like 6BShares 1 condition
- ADAM22ADAM metallopeptidase domain 22Shares 1 condition
- ALDH7A1aldehyde dehydrogenase 7 family member A1Shares 1 condition
- ALG13ALG13 UDP-N-acetylglucosaminyltransferase subunitShares 1 condition
- AP3B2adaptor related protein complex 3 subunit beta 2Shares 1 condition
- ARHGEF9Cdc42 guanine nucleotide exchange factor 9Shares 1 condition
- ARV1ARV1 fatty acid homeostasis modulatorShares 1 condition
- ARXaristaless related homeoboxShares 1 condition
- ATP1A2ATPase Na+/K+ transporting subunit alpha 2Shares 1 condition
- ATP1A3ATPase Na+/K+ transporting subunit alpha 3Shares 1 condition
Traits linked to SLC25A22
The Human Phenotype Ontology lists these as features of the rare conditions SLC25A22 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- EEG with burst suppression
- Epilepsy
- Epileptic encephalopathy
- Cognitive impairment
- Focal motor seizure
- Generalized myoclonic seizure
- Global developmental delay
- Inability to walk
Show 44 more traits
- Intellectual disability
- Loss of developmental milestones
- Multifocal epileptiform discharges
- Neurodevelopmental delay
- Bilateral tonic-clonic seizure with focal onset
- Brain degeneration
- Degeneration of cerebrum
- Difficulty sleeping
- EEG abnormality
- Focal emotional seizure with laughing
- Focal hemiclonic seizure
- Focal impaired awareness seizure
- Focal tonic seizure
- Grand mal seizures
- Hypsarrhythmia
- Increased reflexes
- Lethargy
- Myoclonic seizure
- Abnormal corpus callosum morphology
- Autism spectrum disorder
- Brief seizures with staring spells
- Choreoathetosis
- Degeneration of cerebellum
- Delayed myelination
- Diffuse cerebral atrophy
- Diffuse white matter abnormalities
- Disorder of involuntary muscle movements
- EEG with spike-wave complexes
- Epileptic spasm
- Episodic ataxia
- Febrile seizure (within the age range of 3 months to 6 years)
- Fewer and broader ridges in brain
- Generalized clonic seizure
- Generalized tonic seizure
- Infantile spasms
- Jerking
- More active than typical
- Seizure affecting one half of brain
- Self-injurious behavior
- Sudden loss of muscle tone
- Tremor
- Underdevelopment of part of brain called corpus callosum
- Uni- and bilateral multifocal epileptiform discharges
- Dystonia
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.). SLC25A22 gene: solute carrier family 25 member 22. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc25a22
Dante Labs. SLC25A22 gene: solute carrier family 25 member 22 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc25a22
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