| Type | Description |
|---|---|
| Definition | elongation factor Tu GTP binding domain containing 2 |
| Date | Results | Publications |
|---|---|---|
| 2020-02-29 10:48:00 | report 2 cases of mandibulofacial dysostosis with microcephaly (MFDM) with different and novel de novo mutations in the elongation factor Tu GTP binding domain containing 2 gene | 30343593 |
| 2018-09-08 10:44:00 | we report two individuals of Asian ancestry with Mandibulofacial dysostosis type Guion-Almeida (MFDGA), each harboring a novel, pathogenic splice site variant in EFTUD2 | 29381487 |
| 2016-11-05 11:50:00 | We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS. | 25790162 |
| 2016-10-22 12:00:00 | An update on mandibulofacial dysostosis with microcephaly and EFTUD2 mutations has been presented. (Review) | 26507355 |
| 2015-12-19 12:02:00 | Novel heterozygous mutations in EFTUD2, detected by exome sequencing, in mandibulofacial dysostosis with Microcephaly syndrome. | 25735261 |
| Type | IDs |
|---|---|
| Synonymous | MFDGA, MFDM, SNRNP116, Snrp116, Snu114, U5-116KD |
| Gene |
UniProtKB-ID:
U5S1_HUMAN,
B3KX19_HUMAN
UniprotKB:
Q15029,
B3KX19
UniParc:
UPI00004A25F6,
UPI0000E2468F,
UPI0000137931,
UPI0000E24692
EMBL:
BC002360,
CH471178,
AK296367,
AK316098,
AK297392,
AC015936,
AK126464,
D21163
Ensembl:
ENSG00000108883
KO:
hsa:9343
|
| Nucleutide sequences |
EMBL-CDS:
BAG59832.1,
BAH14469.1,
EAW51574.1,
BAG59042.1,
BAA04699.2,
AAH02360.1,
EAW51573.1,
BAG54331.1
Ensembl_TRS:
ENST00000402521,
ENST00000591382,
ENST00000426333,
ENST00000592576
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000385873,
ENSP00000467805,
ENSP00000465058,
ENSP00000392094
RefSeq:
NP_004238.3,
NP_001245282.1,
NP_001136077.1,
NP_001245283.1
|
| Others |
UniRef100:
UniRef100_B3KX19,
UniRef100_Q15029
UniRef90:
UniRef90_Q15029
UniRef50:
UniRef50_Q15029
UniGene:
Hs.151787
CCDS:
CCDS45707.1,
CCDS11489.1,
CCDS59295.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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