EFTUD2

GENE INFORMATION

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Gene name

EFTUD2 (HGNC Symbol)

Synonyms

SNRNP116, Snrp116, Snu114, U5-116KD

Description

elongation factor Tu GTP binding domain containing 2 (HGNC Symbol)

Entrez gene summary

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]

Chromosome

17 (Chromosome progress)

Cytoband

q21.31

Chromosome location (bp)

42927311 - 42977030

Ensembl

ENSG00000108883 (version 73.37)

Entrez gene

9343

UniProt

Q15029 (UniProt - Evidence at protein level)

neXtProt

NX_Q15029

Antibodypedia

EFTUD2 antibodies
 

PROTEIN VIEW

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EFTUD2-002
 
EFTUD2-003
 
EFTUD2-004
 
EFTUD2-006
 
EFTUD2-011
 
EFTUD2-014
 
EFTUD2-015
 
EFTUD2-020
 
EFTUD2-025
 
EFTUD2-026
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

EFTUD2-002 ENSP00000392094
ENST00000426333
Q15029
Show all »
Show » 972 109.4 No 0
EFTUD2-003 ENSP00000465058
ENST00000592576
K7EJ81
Show all »
Show » 962 108.3 No 0
EFTUD2-004 ENSP00000385873
ENST00000402521
Q15029
Show all »
Show » 937 105.4 No 0
EFTUD2-006 ENSP00000467805
ENST00000591382
Q15029
Show all »
Show » 972 109.4 No 0
EFTUD2-011 ENSP00000464882
ENST00000593072
K7EIT3
Show all »
Show » 148 17 No 0
EFTUD2-014 ENSP00000464908
ENST00000592701
K7EIV5
Show all »
Show » 106 12.2 No 0
EFTUD2-015 ENSP00000467639
ENST00000588374
K7EQ26
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33 3.7 No 0
EFTUD2-020 ENSP00000468284
ENST00000591856
K7ERJ5
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38 4 No 0
EFTUD2-025 ENSP00000467249
ENST00000590124
K7EP67
Show all »
Show » 223 25.1 No 0
EFTUD2-026 ENSP00000465051
ENST00000589769
Show » 134 14.8 No 0