| Gene Information | |
|---|---|
| Gene Name | GNE |
| Organism | Homo sapiens (Human) |
| Gene Length | 722 |
| Protein Names | Bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (UDP-GlcNAc-2-epimerase/ManAc kinase) [Includes: UDP-N-acetylglucosamine 2-epimerase (hydrolyzing) (EC 3.2.1.183) (UDP-GlcNAc-2-epimerase) (Uridine diphosphate-N-acetylglucosamine-2-epimerase); N-acetylmannosamine kinase (EC 2.7.1.60) (ManAc kinase)] |
| Target Name | n-acetylmannosamine kinase |
| Target Type | Clinical trial target |
| Gene Age | 987 ( ENSG00000159921 ) |
| Evolutionary Stage | Cellular_organisms |
| AlphaFoldDB | Q9Y223 |
| Gene Card | GNE |
| Uniprot ID | Q9Y223 |
| Pfam | PF02350; PF00480 |
| In ASD | yes |
| Allosteric Prediction | yes (0.711405797) |
| Ortholog in Animals | Alpaca_ GNE ( ortholog_one2one ) Dog_ GNE ( ortholog_one2one ) GuineaPig_ GNE ( ortholog_one2one ) Macaque_ GNE ( ortholog_one2one ) Mouse_ Gne ( ortholog_one2one ) Pig_ GNE ( ortholog_one2one ) Rat_ Gne ( ortholog_one2one ) Rabbit_ GNE ( ortholog_one2one ) |
| Ohnologs | NA |
| Paralogs | NA |
| Tissue | NA |
| Tissue Specificity | Highest expression in liver and placenta. Also found in heart, brain, lung, kidney, skeletal muscle and pancreas. Isoform 1 is expressed in heart, brain, kidney, liver, placenta, lung, spleen, pancreas, skeletal muscle and colon. Isoform 2 is expressed mainly in placenta, but also in brain, kidney, liver, lung, pancreas and colon. Isoform 3 is expressed at low level in kidney, liver, placenta and colon. {ECO:0000269|PubMed:10330343, ECO:0000269|PubMed:10431835, ECO:0000269|PubMed:17597614}. |
| Pharmacological Animal Models | NA |
| Gene Ontology (biological process) |
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| Gene Ontology (cellular component) |
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| Gene Ontology (molecular function) |
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| PDB | 2YHW (X-ray 1.64A ) 2YHY (X-ray 1.82A ) 2YI1 (X-ray 2.15A ) 3EO3 (X-ray 2.84A ) 4ZHT (X-ray 2.69A ) |
| DBSNP | rs1554664064 rs769215411 rs121908634 rs139425890 rs539332585 rs369328625 rs766266918 rs779694939 rs121908630 rs121908629 rs773729410 rs121908623 rs121908622 rs121908621 rs121908633 rs1455785164 rs199877522 rs121908631 rs1554658910 rs764698870 rs986773986 rs886043979 rs121908632 rs121908625 rs748949603 rs387906347 rs1382191649 rs121908626 rs62541771 rs1191857860 rs121908627 rs28937594 |
| Subcellular location [CC] | Cytoplasm {ECO:0000250}. |
| Mouse PG classification | LPG |
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