Gene
SLC13A5
solute carrier family 13 member 5
- HGNC 23089↗(opens in a new tab)
- Ensembl gene ENSG00000141485↗(opens in a new tab)
- NCBI Gene 284111↗(opens in a new tab)
Summary
- Cytogenetic location
- 17p13.1
- Coordinates
- Chromosome 17: 6,684,719–6,713,369 (GRCh38)
- Exons
- 12 exons across 28.7 kb
- Protein
- 568 amino acids
- Also known as
- NACT, INDY, mINDY
- MANE Select transcript
- ENST00000433363.7NM_177550.5
- 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.
- 3 GenCC submitters rate it definitive or strong
How SLC13A5 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 3.2 kb of the gene's 28.7 kb; 1,707 of those bases code for the protein.
How a genome test reads SLC13A5
49
positions in SLC13A5 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 28.7 kb of SLC13A5, introns included, not only the 3.2 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 SLC13A5
The Human Phenotype Ontology lists these as features of the rare conditions SLC13A5 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Absent speech development
- Epileptic encephalopathy
- Global developmental delay
- Dementia
- EEG abnormality
- Encephalopathy
- Epilepsy
- Intellectual disability, severe
Show 32 more traits
- Loss of developmental milestones
- Mental deterioration
- Repeated seizures without recovery between them
- Abnormality of coordination
- Decreased reflex response
- Delayed speech and language development
- EEG with multifocal slow activity
- Intellectual disability
- Abnormal corpus callosum morphology
- Abnormal gait
- Abnormal myelination
- Ataxia
- Attention deficit
- Autism
- Behavioral abnormality
- Brain degeneration
- Choreoathetosis
- Degeneration of cerebrum
- Diminished deep tendon reflex
- Disorder of involuntary muscle movements
- Dystonia
- Hypsarrhythmia
- Impulsivity
- Involuntary movements
- Jerking
- Poor eye contact
- Too much cerebrospinal fluid in the brain
- Tremor
- Unsteady walk
- Abnormal cerebral white matter morphology
- Delayed myelination
- Multifocal seizures
Abnormality of head or neck
- Abnormal tooth enamel
- Abnormality of dental color
- Amelogenesis imperfecta
- Yellow-brown discoloration of the teeth
- Abnormally small head
- Downward slanting of the opening between the eyelids
- Failure of development of between one and six teeth
- High forehead
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.
- 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.). SLC13A5 gene: solute carrier family 13 member 5. Retrieved 16 October 2026, from https://dantelabs.com/genes/slc13a5
Dante Labs. SLC13A5 gene: solute carrier family 13 member 5 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/slc13a5
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