Gene Gene information from NCBI Gene database.
Entrez ID 8869
Gene name ST3 beta-galactoside alpha-2,3-sialyltransferase 5
Gene symbol ST3GAL5
Synonyms (NCBI Gene)
SATISIAT9SIATGM3SSPDRSST3Gal VST3GalV
Chromosome 2
Chromosome location 2p11.2
Summary Ganglioside GM3 is known to participate in the induction of cell differentiation, modulation of cell proliferation, maintenance of fibroblast morphology, signal transduction, and integrin-mediated cell adhesion. The protein encoded by this gene is a type
SNPs SNP information provided by dbSNP.
15
SNP ID Visualize variation Clinical significance Consequence
rs104893668 G>A Pathogenic Coding sequence variant, intron variant, non coding transcript variant, stop gained
rs141917910 C>T Conflicting-interpretations-of-pathogenicity Missense variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, non coding transcript variant
rs145738225 C>T Conflicting-interpretations-of-pathogenicity, uncertain-significance Missense variant, coding sequence variant, non coding transcript variant
rs148195895 C>T Likely-benign, conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant, non coding transcript variant
rs199590656 C>T Conflicting-interpretations-of-pathogenicity Coding sequence variant, non coding transcript variant, 5 prime UTR variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
231
miRTarBase ID miRNA Experiments Reference
MIRT018189 hsa-miR-335-5p Microarray 18185580
MIRT047769 hsa-miR-7-5p CLASH 23622248
MIRT045016 hsa-miR-186-5p CLASH 23622248
MIRT563272 hsa-miR-4468 PAR-CLIP 20371350
MIRT563271 hsa-miR-298 PAR-CLIP 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
1
Transcription factor Regulation Reference
ATF2 Activation 21699754
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0001574 Process Ganglioside biosynthetic process IC 9822625
GO:0003836 Function Beta-galactoside (CMP) alpha-2,3-sialyltransferase activity TAS
GO:0005794 Component Golgi apparatus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604402 10872 ENSG00000115525
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UNP4
Protein name Lactosylceramide alpha-2,3-sialyltransferase (EC 2.4.3.9) (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase) (GM3 synthase) (Ganglioside GM3 synthase) (ST3Gal V) (ST3GalV) (Sialyltransferase 9)
Protein 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
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00777 Glyco_transf_29 142 411 Glycosyltransferase family 29 (sialyltransferase) Family
Tissue specificity TISSUE SPECIFICITY: Ubiquitous. High expression in brain, skeletal muscle, placenta, and testis. mRNA widely distributed in human brain, but slightly elevated expression was observed in the cerebral cortex, temporal lobe, and putamen. {ECO:0000269|PubMed:
Sequence
Sequence length 418
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycosphingolipid biosynthesis - ganglio series
Metabolic pathways
  Sialic acid metabolism
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
441
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Gastric cancer Likely pathogenic rs549326241 RCV005927106
GM3 synthase deficiency Likely pathogenic; Pathogenic rs200541102, rs2104584644, rs2104059095, rs368298013, rs1423247945, rs2104282063, rs2103936382, rs1383734078, rs1683047204, rs1444819796, rs2103959087, rs104893668, rs2467062259, rs760786924, rs779767507
View all (26 more)
RCV003095499
RCV001678592
RCV001376766
RCV001389686
RCV001386108
RCV001388850
RCV001783817
RCV001783818
RCV001951286
RCV001953636
RCV001949635
RCV000005895
RCV002857418
RCV002932085
RCV003051974
RCV003152952
RCV000240853
RCV000240856
RCV003505521
RCV003506042
RCV003506490
RCV003505076
RCV003505673
RCV003505741
RCV003614484
RCV003614488
RCV003614417
RCV003613633
RCV003613557
RCV003613558
RCV003613614
RCV003614663
RCV003615024
RCV003615148
RCV003874965
RCV000694414
RCV000700158
RCV000824871
RCV001028020
RCV001232422
RCV001244482
RCV005029849
Intellectual disability Likely pathogenic; Pathogenic rs1573589807, rs1681835024 RCV001260857
RCV001260781
ST3GAL5-related disorder Pathogenic rs104893668 RCV003904809
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Uterine corpus endometrial carcinoma Likely benign rs368878731 RCV005899553
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Amish Infantile Epilepsy Syndrome Associate 15502825, 30185102, 34906476, 36833282, 37676252
Amish Infantile Epilepsy Syndrome Inhibit 22990144, 36833282
Carcinoma Renal Cell Stimulate 36172374
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress Associate 30185102
Cohen syndrome Associate 36833282
Congenital Hereditary and Neonatal Diseases and Abnormalities Associate 24103911
Developmental Disabilities Associate 36833282
Epilepsy Associate 36833282
Epilepsy Generalized Associate 15502825
Epileptic Syndromes Associate 22990144