ST3GAL5

  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
ST3GAL5 (HGNC:10872) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
SIAT9
Alias symbols
ST3GalV, SIATGM3S
%HI
63.29(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.76(Read more about gnomAD LOEUF score)
Cytoband
2p11.2
Genomic Coordinates
GRCh37/hg19: chr2:86064243-86116157 NCBI Ensembl UCSC
GRCh38/hg38: chr2:85837120-85889034 NCBI Ensembl UCSC
MANE Select Transcript
NM_003896.4 ENST00000638572.2 (Read more about MANE Select)
Function
Transfers the sialyl group (N-acetyl-alpha-neuraminyl or NeuAc) from CMP-NeuAc to the non-reducing terminal galactose (Gal) of glycosphingolipids forming gangliosides (important molecules involved in the regulation of multiple cellular processes, including cell proliferation and differentiation, apoptosis, embryogenesis, development, and oncogenesis) (PubMed:9822625, PubMed:16934889). Mainly involved in the biosynthesis of ganglioside GM3 but can also use different glycolipids as substrate accep... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-36615
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
09/25/2014

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Mutations in ST3GAL5 are associated with Salt & pepper syndrome (also known as GM3 synthase deficiency) (Wang et al. 2013;Boccuto et al. 2014). This is an autosomal recessive condition.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)