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:
- GM3 synthase deficiency Monarch
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)