| URN | urn:agi-llid:9343 |
|---|---|
| Total Entities | 0 |
| Connectivity | 73 |
| Name | Eftud2 |
| Description | elongation factor Tu GTP binding domain containing 2 |
| Notes | This gene encodes a GTPase which is a component of the spliceosome complex which processes precursor mRNAs to produce mature mRNAs. Mutations in this gene are associated with mandibulofacial dysostosis with microcephaly. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012] |
| GO Molecular Function | GTPase activity |
|---|---|
| translation elongation factor activity | |
| nucleotide binding | |
| GTP binding |
| GO Cellular Component | spliceosomal complex |
|---|---|
| nucleoplasm | |
| nucleolus | |
| Cajal body | |
| nuclear speck | |
| catalytic step 2 spliceosome | |
| cytoplasm | |
| nucleus |
| GO Biological Process | GTP catabolic process |
|---|---|
| RNA splicing | |
| mRNA processing | |
| mRNA splicing, via spliceosome | |
| translation | |
| translational elongation | |
| gene expression |
| Pathway | spliceosomal pathway |
|---|---|
| spliceosome pathway |
| Group | mRNA processing |
|---|---|
| GTP catabolic process | |
| GTPase activity | |
| RNA splicing | |
| mRNA processing | |
| mRNA splicing, via spliceosome | |
| translation | |
| translational elongation | |
| translation elongation factor activity | |
| gene expression | |
| nucleotide binding | |
| GTP binding | |
| spliceosomal complex | |
| nucleoplasm | |
| nucleolus | |
| Cajal body | |
| nuclear speck | |
| catalytic step 2 spliceosome | |
| cytoplasm | |
| nucleus |
| LocusLink ID | 9343 |
|---|---|
| 20624 | |
| 287739 |
| Cell Localization | Nucleus |
|---|
| GO ID | 0005525 |
|---|---|
| 0003924 | |
| 0006184 | |
| 0008380 | |
| 0010467 | |
| 0006397 | |
| 0000398 | |
| 0015030 | |
| 0071013 | |
| 0005737 | |
| 0016607 | |
| 0005730 | |
| 0005654 | |
| 0005634 | |
| 0005681 | |
| 0000166 | |
| 0003746 | |
| 0006412 | |
| 0006414 |
| Alias | MFDM |
|---|---|
| MFDGA | |
| Snu114 | |
| Snrp116 | |
| SNRNP116 | |
| U5-116KD | |
| 116 kDa U5 small nuclear ribonucleoprotein component | |
| hSNU114 | |
| SNU114 homolog | |
| U5 snRNP-specific protein, 116 kDa | |
| elongation factor Tu GTP-binding domain-containing protein 2 | |
| 116kDa | |
| RP23-463E7.2 | |
| U5-116 kDa | |
| U5 small nuclear ribonucleoprotein 116 kDa | |
| U5 small nuclear ribonucleoprotein | |
| U5 snRNP specific protein, 116 kD | |
| MFDM gene | |
| MFDGA gene | |
| U5 small nuclear ribonuclear protein | |
| mandibulofacial dysostosis with microcephaly gene | |
| mandibulofacial dysostosis type Guion-Almeida gene | |
| 116kDa small nuclear ribonucleoprotein | |
| U5 small nuclear ribonuclear protein 116 kDa | |
| 116kDa small nuclear ribonuclear protein | |
| DKFZp686E24196 | |
| EFTUD2 | |
| elongation factor Tu GTP binding domain containing 2 | |
| elongation factor Tu GTP binding domain containing II | |
| KIAA0031 | |
| OTTMUSP00000002990 | |
| FLJ44695 |
| Mouse chromosome position | 11 |
|---|
| OMIM ID | 603892 |
|---|---|
| 610536 |
| Rat chromosome position | 10q32.1 |
|---|
| Hugo ID | 30858 |
|---|
| Human chromosome position | 17q21.31 |
|---|
| Swiss-Prot Accession | B3KX19 |
|---|---|
| Q15029 | |
| B4DMC0 | |
| K7EJ81 | |
| A2AH85 | |
| O08810 | |
| Q543F1 | |
| F1LM66 | |
| B4DK30 | |
| D3DX58 | |
| Q9BUR0 |
| Unigene ID | Hs.151787 |
|---|---|
| Mm.873 | |
| Rn.62495 |
| KEGG ID | hsa:9343 |
|---|---|
| mmu:20624 | |
| rno:287739 |
| Swiss-Prot ID | U5S1_HUMAN |
|---|---|
| U5S1_MOUSE |
| Ensembl ID | ENSG00000108883 |
|---|---|
| ENSP00000467805 | |
| ENST00000591382 | |
| ENSP00000465058 | |
| ENST00000592576 | |
| ENSP00000392094 | |
| ENST00000426333 | |
| ENSMUSG00000020929 | |
| ENSMUSP00000021306 | |
| ENSMUST00000021306 | |
| ENSMUSP00000102675 | |
| ENSMUST00000107060 | |
| ENSRNOG00000002818 | |
| ENSRNOP00000052049 | |
| ENSRNOT00000055176 |
| Homologene ID | 3133 |
|---|
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| MGI ID | 1336880 |
|---|
| RGD ID | 1560116 |
|---|
| MedScan ID | 9343 |
|---|