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Aliases for ST3GAL3 Gene

Aliases for ST3GAL3 Gene

  • ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3 2 3 5
  • ST3Gal III 2 3 4
  • Sialyltransferase 6 (N-Acetyllacosaminide Alpha 2,3-Sialyltransferase) 2 3
  • Mental Retardation, Non-Syndromic, Autosomal Recessive, 12 2 3
  • Alpha 2,3-ST 3 3 4
  • ST3GalIII 3 4
  • SIAT6 3 4
  • ST3N 3 4
  • CMP-N-Acetylneuraminate-Beta-1,4-Galactoside Alpha-2,3-Sialyltransferase 3
  • Gal Beta-1,3(4) GlcNAc Alpha-2,3 Sialyltransferase 4
  • Gal Beta-1,3(4)GlcNAc Alpha-2,3 Sialyltransferase 3
  • N-Acetyllactosaminide Alpha-2,3-Sialyltransferase 4
  • Beta-Galactoside Alpha-2,3-Sialyltransferase 3 4
  • Alpha 2,3-Sialyltransferase III 3
  • Alpha-2,3-Sialyltransferase II 3
  • Sialyltransferase 6 4
  • EC 2.4.99.6 4
  • ST3GALII 3
  • EIEE15 3
  • MRT12 3

External Ids for ST3GAL3 Gene

Previous HGNC Symbols for ST3GAL3 Gene

  • SIAT6
  • MRT12

Previous GeneCards Identifiers for ST3GAL3 Gene

  • GC01P043844
  • GC01P043946
  • GC01P044173
  • GC01P042293

Summaries for ST3GAL3 Gene

Entrez Gene Summary for ST3GAL3 Gene

  • The protein encoded by this gene is a type II membrane protein that catalyzes the transfer of sialic acid from CMP-sialic acid to galactose-containing substrates. The encoded protein is normally found in the Golgi apparatus but can be proteolytically processed to a soluble form. This protein is a member of glycosyltransferase family 29. Mutations in this gene have been associated with a form of autosomal recessive nonsymdromic cognitive disability as well as infantile epileptic encephalopathy. Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]

GeneCards Summary for ST3GAL3 Gene

ST3GAL3 (ST3 Beta-Galactoside Alpha-2,3-Sialyltransferase 3) is a Protein Coding gene. Diseases associated with ST3GAL3 include Epileptic Encephalopathy, Early Infantile, 15 and Autosomal Recessive Non-Syndromic Intellectual Disability. Among its related pathways are Keratan sulfate/keratin metabolism and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include sialyltransferase activity and N-acetyllactosaminide alpha-2,3-sialyltransferase activity. An important paralog of this gene is ST3GAL5.

UniProtKB/Swiss-Prot for ST3GAL3 Gene

  • Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta-1,4-GlcNAc-, NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- and NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. The highest activity is toward Gal-beta-1,3-GlcNAc and the lowest toward Gal-beta-1,3-GalNAc.

Gene Wiki entry for ST3GAL3 Gene

Additional gene information for ST3GAL3 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ST3GAL3 Gene

Genomics for ST3GAL3 Gene

GeneHancer (GH) Regulatory Elements for ST3GAL3 Gene

Promoters and enhancers for ST3GAL3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01I043705 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 550.8 +1.8 1771 3.8 HDGF FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 KDM4A-AS1 ST3GAL3 SZT2 DMAP1 P3H1 KDM4A HYI MED8 ARTN ZNF691
GH01I043736 Promoter 0.5 EPDnew 550.3 +30.5 30472 0.1 ST3GAL3 GC01M043702 ENSG00000233674
GH01I043529 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 11 -172.1 -172084 9.2 HDGF PKNOX1 CLOCK SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF213 PTPRF KDM4A-AS1 ST3GAL3 ARTN IPO13 LOC101929609 HYI MED8 GC01M043545
GH01I043830 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 16.7 +128.3 128283 6.3 HDGF PKNOX1 FOXA2 SMAD1 ZNF2 ZNF766 ZNF207 ZNF143 FOS JUNB GC01M043833 ARTN LOC101929609 ST3GAL3 IPO13 HYI LOC101929592 SZT2 DMAP1 ATP6V0B
GH01I043765 Enhancer 1.1 FANTOM5 Ensembl ENCODE 17.8 +60.6 60603 2.4 PKNOX1 ZSCAN4 BACH1 SIN3A EBF1 POLR2A SCRT2 ZSCAN5C ZNF600 IKZF2 ARTN ST3GAL3 IPO13 LOC101929592 LOC101929609 KDM4A-AS1 DPH2 ATP6V0B SLC6A9 ENSG00000233674
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ST3GAL3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ST3GAL3 gene promoter:

Genomic Locations for ST3GAL3 Gene

Genomic Locations for ST3GAL3 Gene
chr1:43,705,824-43,931,165
(GRCh38/hg38)
Size:
225,342 bases
Orientation:
Plus strand
chr1:44,171,495-44,396,831
(GRCh37/hg19)

Genomic View for ST3GAL3 Gene

Genes around ST3GAL3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ST3GAL3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ST3GAL3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ST3GAL3 Gene

Proteins for ST3GAL3 Gene

neXtProt entry for ST3GAL3 Gene

Post-translational modifications for ST3GAL3 Gene

  • The soluble form derives from the membrane form by proteolytic processing.
  • Glycosylation at posLast=8080 and isoforms=2, 4, 6, 5, 7, 8, 10, 13, 15, 21, 16, 17, 19, 20, 23, 24171

No data available for DME Specific Peptides for ST3GAL3 Gene

Domains & Families for ST3GAL3 Gene

Gene Families for ST3GAL3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ST3GAL3 Gene

Graphical View of Domain Structure for InterPro Entry

Q11203

UniProtKB/Swiss-Prot:

SIAT6_HUMAN :
  • Belongs to the glycosyltransferase 29 family.
Family:
  • Belongs to the glycosyltransferase 29 family.
genes like me logo Genes that share domains with ST3GAL3: view

Function for ST3GAL3 Gene

Molecular function for ST3GAL3 Gene

UniProtKB/Swiss-Prot CatalyticActivity:
CMP-N-acetyl-beta-neuraminate + beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl-R = CMP + N-acetyl-alpha-neuraminyl-(2->3)-beta-D-galactosyl-(1->4)-N-acetyl-beta-D-glucosaminyl-R.
UniProtKB/Swiss-Prot Function:
Catalyzes the formation of the NeuAc-alpha-2,3-Gal-beta-1,4-GlcNAc-, NeuAc-alpha-2,3-Gal-beta-1,3-GlcNAc- and NeuAc-alpha-2,3-Gal-beta-1,3-GalNAc- sequences found in terminal carbohydrate groups of glycoproteins and glycolipids. The highest activity is toward Gal-beta-1,3-GlcNAc and the lowest toward Gal-beta-1,3-GalNAc.

Enzyme Numbers (IUBMB) for ST3GAL3 Gene

Phenotypes From GWAS Catalog for ST3GAL3 Gene

Gene Ontology (GO) - Molecular Function for ST3GAL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003836 beta-galactoside (CMP) alpha-2,3-sialyltransferase activity TAS --
GO:0008118 N-acetyllactosaminide alpha-2,3-sialyltransferase activity IBA,TAS --
GO:0008373 sialyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with ST3GAL3: view
genes like me logo Genes that share phenotypes with ST3GAL3: view

Human Phenotype Ontology for ST3GAL3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ST3GAL3 Gene

MGI Knock Outs for ST3GAL3:

Animal Model Products

miRNA for ST3GAL3 Gene

miRTarBase miRNAs that target ST3GAL3

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ST3GAL3 Gene

Localization for ST3GAL3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ST3GAL3 Gene

Golgi apparatus, Golgi stack membrane; Single-pass type II membrane protein. Secreted. Note=Membrane-bound form in trans cisternae of Golgi. Secreted into the body fluid.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ST3GAL3 gene
Compartment Confidence
extracellular 5
golgi apparatus 5
endoplasmic reticulum 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ST3GAL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005576 extracellular region IEA --
GO:0005794 Golgi apparatus IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ST3GAL3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ST3GAL3 Gene

Pathways & Interactions for ST3GAL3 Gene

genes like me logo Genes that share pathways with ST3GAL3: view

UniProtKB/Swiss-Prot Q11203-SIAT6_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for ST3GAL3 Gene

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)
http://version10.5.string-db.org/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000262915%0d%0a9606.ENSP00000320965%0d%0a9606.ENSP00000436812%0d%0a9606.ENSP00000435591%0d%0a9606.ENSP00000256646%0d%0a9606.ENSP00000312021%0d%0a
Selected Interacting proteins: ENSP00000262915 Q11203-SIAT6_HUMAN for ST3GAL3 Gene via STRING IID

Gene Ontology (GO) - Biological Process for ST3GAL3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006486 protein glycosylation IEA --
GO:0009311 oligosaccharide metabolic process IBA --
GO:0016266 O-glycan processing TAS --
GO:0018146 keratan sulfate biosynthetic process TAS --
GO:0018279 protein N-linked glycosylation via asparagine IBA --
genes like me logo Genes that share ontologies with ST3GAL3: view

No data available for SIGNOR curated interactions for ST3GAL3 Gene

Drugs & Compounds for ST3GAL3 Gene

(2) Drugs for ST3GAL3 Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cytidine monophosphate Experimental Pharma 0

(3) Additional Compounds for ST3GAL3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Cytidine monophosphate N-acetylneuraminic acid
  • CMP-N-Acetylneuraminate
  • CMP-N-Acylneuraminate
  • CMP-NeuNAc
  • Cytidine 5'-monophosphate N-acetylneuraminic acid
  • Cytidine Monophosphate N-Acetylneuraminate
22-12-8
genes like me logo Genes that share compounds with ST3GAL3: view

Transcripts for ST3GAL3 Gene

Unigene Clusters for ST3GAL3 Gene

ST3 beta-galactoside alpha-2,3-sialyltransferase 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ST3GAL3 Gene

ExUns: 1 ^ 2a · 2b · 2c ^ 3a · 3b · 3c · 3d ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b ^
SP1: - - - - - - - - - -
SP2: - - - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - - -
SP5: - - - - - - - - - -
SP6: - - - - - - - - - -
SP7: - - - - - - - - -
SP8: - - - - - - - - - - -
SP9: - - - - - - - - -
SP10: - - - - - - - - - - - -
SP11: - - - - - - - - - - - -
SP12: - - - - - - - - - -
SP13: - - - - - - - - -
SP14: - - - - - - - - -
SP15: - - - - - - - - -
SP16: - - - - - - - - - - -
SP17: - - - - - - - - - - - - - -
SP18: - - - - - - - - -
SP19: - - - -
SP20: - - - - - - - - - - - - -
SP21: - - - - -
SP22:
SP23: - - - - -
SP24:
SP25: - - -
SP26:
SP27:

ExUns: 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b · 21c ^ 22 ^ 23a · 23b · 23c
SP1: - - - - -
SP2: - - - - -
SP3: - - - - -
SP4: - - - - -
SP5: - - - -
SP6: - - - - - -
SP7: - - - - -
SP8: - - - - -
SP9: - - - - - - - -
SP10: - - - - -
SP11: - - - - -
SP12: - - - - - - - -
SP13:
SP14: - - - - - - - - -
SP15:
SP16: - - - - - - - -
SP17: - - - -
SP18: -
SP19:
SP20: - - - - - - - -
SP21:
SP22: - -
SP23:
SP24: - -
SP25:
SP26:
SP27:

Relevant External Links for ST3GAL3 Gene

GeneLoc Exon Structure for
ST3GAL3
ECgene alternative splicing isoforms for
ST3GAL3

Expression for ST3GAL3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ST3GAL3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ST3GAL3 Gene

This gene is overexpressed in Muscle - Skeletal (x4.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for ST3GAL3 Gene



Protein tissue co-expression partners for ST3GAL3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ST3GAL3 Gene:

ST3GAL3

SOURCE GeneReport for Unigene cluster for ST3GAL3 Gene:

Hs.597915

mRNA Expression by UniProt/SwissProt for ST3GAL3 Gene:

Q11203-SIAT6_HUMAN
Tissue specificity: Highly expressed in adult skeletal muscle and in all fetal tissues examined and to a much lesser extent in placenta, lung and liver.

Evidence on tissue expression from TISSUES for ST3GAL3 Gene

  • Nervous system(4.6)
  • Eye(2.4)
  • Heart(2)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ST3GAL3 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • blood vessel
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with ST3GAL3: view

Primer Products

No data available for Protein differential expression in normal tissues for ST3GAL3 Gene

Orthologs for ST3GAL3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for ST3GAL3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ST3GAL3 33 34
  • 99.64 (n)
cow
(Bos Taurus)
Mammalia SIAT6 34
  • 99 (a)
OneToOne
ST3GAL3 33
  • 92.51 (n)
mouse
(Mus musculus)
Mammalia St3gal3 33 16 34
  • 91.8 (n)
rat
(Rattus norvegicus)
Mammalia St3gal3 33
  • 90.91 (n)
dog
(Canis familiaris)
Mammalia ST3GAL3 33 34
  • 90.01 (n)
oppossum
(Monodelphis domestica)
Mammalia ST3GAL3 34
  • 65 (a)
OneToOne
chicken
(Gallus gallus)
Aves ST3GAL3 33 34
  • 77.52 (n)
lizard
(Anolis carolinensis)
Reptilia ST3GAL3 34
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia st3gal3 33
  • 70.85 (n)
Str.781 33
African clawed frog
(Xenopus laevis)
Amphibia st3Gal-III 33
zebrafish
(Danio rerio)
Actinopterygii st3gal3b 33 34
  • 66.57 (n)
st3gal3a 34
  • 63 (a)
OneToMany
zgc63978 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.9175 33
Species where no ortholog for ST3GAL3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ST3GAL3 Gene

ENSEMBL:
Gene Tree for ST3GAL3 (if available)
TreeFam:
Gene Tree for ST3GAL3 (if available)

Paralogs for ST3GAL3 Gene

(5) SIMAP similar genes for ST3GAL3 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with ST3GAL3: view

Variants for ST3GAL3 Gene

Sequence variations from dbSNP and Humsavar for ST3GAL3 Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1060504500 likely-benign, Early infantile epileptic encephalopathy 43,899,610(+) C/T 5_prime_UTR_variant, coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant
rs114112844 conflicting-interpretations-of-pathogenicity, benign, not specified, Early infantile epileptic encephalopathy 43,898,228(+) T/C intron_variant
rs115003742 uncertain-significance, benign, not specified, Early infantile epileptic encephalopathy 43,899,601(+) C/T 5_prime_UTR_variant, coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant
rs12140044 benign, not specified, Early infantile epileptic encephalopathy 43,899,619(+) C/T 5_prime_UTR_variant, coding_sequence_variant, intron_variant, non_coding_transcript_variant, synonymous_variant
rs144263012 uncertain-significance, Early infantile epileptic encephalopathy 43,920,441(+) G/A 3_prime_UTR_variant, coding_sequence_variant, downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant, missense_variant, non_coding_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ST3GAL3 Gene

Variant ID Type Subtype PubMed ID
dgv20e201 CNV deletion 23290073
dgv254n54 CNV gain+loss 21841781
dgv255n54 CNV gain+loss 21841781
esv1002363 CNV gain 20482838
esv1721659 CNV deletion 17803354
esv1735166 CNV deletion 17803354
esv2670602 CNV deletion 23128226
esv2674865 CNV deletion 23128226
esv2678921 CNV deletion 23128226
esv2747630 CNV deletion 23290073
esv2747641 CNV deletion 23290073
esv2747652 CNV deletion 23290073
esv2747663 CNV deletion 23290073
esv2747674 CNV deletion 23290073
esv29502 CNV gain 19812545
esv3304324 CNV mobile element insertion 20981092
esv3444496 CNV insertion 20981092
nsv1077623 CNV insertion 25765185
nsv1112531 CNV deletion 24896259
nsv1118117 CNV deletion 24896259
nsv1121763 CNV deletion 24896259
nsv1125461 CNV tandem duplication 24896259
nsv546129 CNV gain 21841781
nsv546130 CNV loss 21841781
nsv546132 CNV gain 21841781
nsv546133 CNV gain 21841781
nsv546134 CNV gain 21841781
nsv546136 CNV gain+loss 21841781
nsv546139 CNV loss 21841781
nsv546140 CNV loss 21841781
nsv721 CNV insertion 18451855
nsv945910 CNV duplication 23825009
nsv950703 CNV deletion 24416366

Variation tolerance for ST3GAL3 Gene

Residual Variation Intolerance Score: 27.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.04; 21.36% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ST3GAL3 Gene

Human Gene Mutation Database (HGMD)
ST3GAL3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ST3GAL3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ST3GAL3 Gene

Disorders for ST3GAL3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ST3GAL3 Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

SIAT6_HUMAN
  • Epileptic encephalopathy, early infantile, 15 (EIEE15) [MIM:615006]: A form of epilepsy that manifests in the neonatal or the early infantile period as severely impaired cognitive and motor development, due to recurrent clinical seizures or prominent interictal epileptiform discharges. Patients develop infantile spasms, mainly of the flexor type, between 3 and 7 months of age, which are accompanied by hypsarrhythmia on EEG. Other features include poor eye contact, hypotonia, primitive reflexes, and irritability. Seizures evolve clinically to Lennox-Gastaut syndrome. {ECO:0000269 PubMed:23252400}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mental retardation, autosomal recessive 12 (MRT12) [MIM:611090]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. {ECO:0000269 PubMed:21907012}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ST3GAL3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ST3GAL3: view

No data available for Genatlas for ST3GAL3 Gene

Publications for ST3GAL3 Gene

  1. ST3GAL3 mutations impair the development of higher cognitive functions. (PMID: 21907012) Hu H … Kuss AW (American journal of human genetics 2011) 2 3 4 58
  2. Cloning and expression of human Gal beta 1,3(4)GlcNAc alpha 2,3-sialyltransferase. (PMID: 8333853) Kitagawa H … Paulson JC (Biochemical and biophysical research communications 1993) 2 3 4 58
  3. West syndrome caused by ST3Gal-III deficiency. (PMID: 23252400) Edvardson S … Elpeleg O (Epilepsia 2013) 3 4 58
  4. A genome-wide association study of aging. (PMID: 21782286) Walter S … Franceschini N (Neurobiology of aging 2011) 3 44 58
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58

Products for ST3GAL3 Gene

Sources for ST3GAL3 Gene