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Gene id 127550
Gene Summary    Protein Summary    KEGG pathways    Diseases    PubMed    

Gene Summary

Gene Symbol A3GALT2   Gene   UCSC   Ensembl
Aliases A3GALT2P, IGB3S, IGBS3S
Gene name alpha 1,3-galactosyltransferase 2
Alternate names alpha-1,3-galactosyltransferase 2, alpha 1,3-galactosyltransferase 2, pseudogene, iGb3 synthase, isoglobotriaosylceramide synthase,
Gene location 1p35.1 (33321097: 33306765)     Exons: 5     NC_000001.11

Protein Summary

Protein general information U3KPV4  

Name: Alpha 1,3 galactosyltransferase 2 (EC 2.4.1.87) (Isoglobotriaosylceramide synthase) (iGb3 synthase) (iGb3S)

Length: 340  Mass: 38754

Tissue specificity: Expressed in thymus and monocyte derived dendritic cells. {ECO

Sequence MALKEGLRAWKRIFWRQILLTLGLLGLFLYGLPKFRHLEALIPMGVCPSATMSQLRDNFTGALRPWARPEVLTCT
PWGAPIIWDGSFDPDVAKQEARQQNLTIGLTIFAVGRYLEKYLERFLETAEQHFMAGQSVMYYVFTELPGAVPRV
ALGPGRRLPVERVARERRWQDVSMARMRTLHAALGGLPGREAHFMFCMDVDQHFSGTFGPEALAESVAQLHSWHY
HWPSWLLPFERDAHSAAAMAWGQGDFYNHAAVFGGSVAALRGLTAHCAGGLDWDRARGLEARWHDESHLNKFFWL
HKPAKVLSPEFCWSPDIGPRAEIRRPRLLWAPKGYRLLRN
Structural information
Interpro:  IPR005076  IPR029044  
STRING:   ENSP00000475261
Other Databases GeneCards:  A3GALT2  Malacards:  A3GALT2

KEGG pathways

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Pathway idPathway name
hsa01100Metabolic pathways
hsa00603Glycosphingolipid biosynthesis - globo and isoglobo series
Associated diseases References
Teratozoospermia MIK: 17327269

PubMed references

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PMID Condition Mutation Ethnicity Population details Infertility_type Associated_genes Abstract
17327269 Teratozoos
permia

13 (5 controls,
8 cases)
Male infertility GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
Show abstract