Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
8869
Gene name Gene Name - the full gene name approved by the HGNC.
ST3 beta-galactoside alpha-2,3-sialyltransferase 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ST3GAL5
Synonyms (NCBI Gene) Gene synonyms aliases
SATI, SIAT9, SIATGM3S, SPDRS, ST3Gal V, ST3GalV
Disease Acronyms (UniProt) Disease acronyms from UniProt database
SPDRS
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 factor Regulation Reference
ATF2 Activation 21699754
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane NAS 9822625
GO:0000139 Component Golgi membrane TAS
GO:0001574 Process Ganglioside biosynthetic process NAS 9822625
GO:0004513 Function Neolactotetraosylceramide alpha-2,3-sialyltransferase activity TAS 9822625
GO:0005887 Component Integral component of plasma membrane TAS 9822625
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
604402 10872 ENSG00000115525
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Cerebral palsy Cerebral Palsy rs121918149, rs75184679, rs730880264, rs587777428, rs797045067, rs767399782, rs564185858, rs886039513
Developmental delay Global developmental delay, Profound global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Developmental regression Developmental regression rs1224421127 25529582
Gm3 synthase deficiency GM3 synthase deficiency rs104893668, rs886037930, rs771732955, rs778265926, rs754643632, rs1573589807, rs367638648
Associations from Text Mining
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