SLC35A2 |
- 3
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- SLC35A2 (HGNC:11022) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- solute carrier family 35 member A2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- UGALT
- Alias symbols
- UGAT, UGT, UGT1, UGT2, UGTL, UDP-Gal-Tr
- %HI
- 32.21(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0.72(Read more about gnomAD pLI score)
- LOEUF
- 0.56(Read more about gnomAD LOEUF score)
- Cytoband
- Xp11.23
- Genomic Coordinates
-
GRCh37/hg19: chrX:48760460-48769235 NCBI Ensembl UCSC GRCh38/hg38: chrX:48903183-48911958 NCBI Ensembl UCSC - MANE Select Transcript
- NM_005660.3 ENST00000247138.11 (Read more about MANE Select)
- Function
- Transports uridine diphosphate galactose (UDP-galactose) from the cytosol into the Golgi apparatus, functioning as an antiporter that exchanges UDP-galactose for UMP (PubMed:9010752, PubMed:12682060). It is also able to exchange UDP-galactose for AMP and CMP, and to transport UDP-N-acetylgalactosamine (UDP-GalNAc) and other nucleotide sugars (PubMed:12682060, PubMed:11784306). As a provider of UDP- galactose to galactosyltransferases present in the Golgi apparatus, it is necessary for globotriao... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Haploinsufficiency (HI) Score Details
- SLC35A2-congenital disorder of glycosylation Monarch
-
PUBMED:
27743886
2-month old girl had refractory epileptic spasms with hypsarrhythmia. She had developmental delay, widely spaced inverted nipples, external strabismus, and bilateral heterochromia of irises. MRI revealed cerebral and cerebellar atrophy, thinning of the corpus callosum, and arachnoid pouch. Whole-exome sequencing detected a de novo frameshift mutation c.950delG (p.Gly317Alafs*32) at exon 4 in SLC35A2. Seizures resolved by 3 years of age but she had intellectual disability.
-
PUBMED:
24115232
In a cohort of 328 patients with early infantile epileptic encephalopathy, authors identified de novo frameshift mutations in SLC35A2 in two female patients: c.433_434del (p.Tyr145Profs*76) in patient 1 and c.972del (p.Phe324Leufs*25) in patient 2. A third female patient had a de novo missense mutation (c.638C>T [p.Ser213Phe]). X-inactivation analysis using a fragile X mental retardation locus methylation assay and human androgen receptor assay on genomic DNA from peripheral leukocytes showed a markedly skewed patternin patients 1 and 2 and was not informative in patient 3.
-
PUBMED:
23561849
This report two male individuals with de novo mosaic mutations in SLC35A2 (p.Gly8Serfs∗9 and p.Val331Ile). A female with a de novo predicted loss-of-function mutation was also identified (p.Met1?). Three three patients showed an unusual transferrin profile, with loss of both galactose and sialic acid from multiple branches of complex type N-glycans. Functional analysis with fibroblast lines confirmed incomplete galactosylation, which leads to incomplete sialylation. By three years of age, the transferrin profile seems to revert to normal, despite worsening of the phenotype.
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.
Triplosensitivity (TS) Score Details
The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.