Gene
SLC35A2
solute carrier family 35 member A2
- HGNC 11022(opens in a new tab)
- Ensembl gene ENSG00000102100(opens in a new tab)
- NCBI Gene 7355(opens in a new tab)
Summary
- Cytogenetic location
- Xp11.23
- Coordinates
- Chromosome X: 48,903,183–48,911,646 (GRCh38)
- Exons
- 5 exons across 8.5 kb
- Protein
- 396 amino acids
- Inheritance
- X-linked dominant
- Also known as
- UGAT, UGT, UGT1, UGT2, UGTL, UDP-Gal-Tr
- Previous symbols
- UGALT
- MANE Select transcript
- ENST00000247138.11NM_005660.3
- 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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Get my Genome TestCurated reports relevant to this gene
Congenital Disorders of Glycosylation
- SLC35A2-CDGX-linked dominant
A congenital disorder of glycosylation caused by variants in SLC35A2, usually arising new in the affected child, with early-onset epileptic encephalopathy and developmental delay.
- 5 GenCC submitters rate it definitive or strong
What knowing changes
Oral galactose has been studied as a treatment option.
- Congenital Disorders of Glycosylation (CDG)
One of 98 genes linked to it
A large group of inherited conditions in which sugar chains (glycans) are not correctly built or attached to proteins and lipids, often affecting the brain, liver, blood clotting, growth and many other body systems. Most are autosomal recessive, but some are X-linked or autosomal dominant.
- 5 GenCC submitters rate it definitive or strong
Epilepsy (Full Panel)
- X-Linked Complex Neurodevelopmental Disorder
A complex neurodevelopmental disorder that is transmitted via X-linked inheritance, and is characterized by intellectual disability, autism and epilepsy.
- ClinGen rates the link definitive
- 1 GenCC submitter rates it definitive or strong
- 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.
- 5 GenCC submitters rate it definitive or strong
Inheritance
- X-linked dominant
- The change is on the X chromosome, and one copy is enough. A mother who has it passes it on to each child with a one-in-two chance; a father, to all of his daughters and none of his sons.
How SLC35A2 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 1.5 kb of the gene's 8.5 kb; 1,191 of those bases code for the protein.
How a genome test reads SLC35A2
38
positions in SLC35A2 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 8.5 kb of SLC35A2, introns included, not only the 1.5 kb of exons.
Traits linked to SLC35A2
The Human Phenotype Ontology lists these as features of the rare conditions SLC35A2 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Absent speech development
- Epileptic encephalopathy
- Epileptic spasm
- Abnormality of the nervous system
- Epilepsy
- Global developmental delay
- Hypsarrhythmia
- Intellectual disability
Show 19 more traits
- Abnormal cerebral white matter morphology
- Degeneration of cerebellum
- Degeneration of cerebrum
- Delayed myelination
- Elevated brain N-acetyl aspartate level by MRS
- Inability to walk
- Infantile spasms
- Intellectual disability, severe
- Small cerebellum
- Underdevelopment of part of brain called corpus callosum
- Atrophy/Degeneration affecting the brainstem
- Cerebral white matter atrophy
- Delayed CNS myelination
- EEG with focal epileptiform discharges
- Lateral ventricle dilatation
- Short corpus callosum
- Abnormal shape of midbrain
- Cortical dysplasia
- Small hippocampus
Abnormality of the musculoskeletal system
- Abnormality of the skeletal system
- Decreased muscle tone in infant
- Low muscle tone
- Low muscle tone in trunk
- Poor head control
- Scoliosis
- Abnormal shape of long bone
- Limb contractures
Show 3 more traits
Abnormality of the eye
- Abnormality of the eye
- Cerebral visual impairment
- Anisometropia
- Cross-eyed
- Outward facing eye ball
- Paroxysmal involuntary eye movements
- Involuntary, rapid, rhythmic eye movements
- Ocular flutter
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.). SLC35A2 gene: solute carrier family 35 member A2. Retrieved 17 October 2026, from https://dantelabs.com/genes/slc35a2
Dante Labs. SLC35A2 gene: solute carrier family 35 member A2 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/slc35a2
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