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EFTUD2

GENERAL INFORMATION

Gene name

 EFTUD2

Gene description

 Elongation factor Tu GTP binding domain containing 2

Protein class

 Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

 Intracellular

Number of transcripts

 7
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Expressed in all
GTEx:Expressed in all
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 General cytoplasmic expression.

DATA RELIABILITY

Data reliability
description

 Antibody staining mainly consistent with RNA expression data. Presumed off target binding observed and disregarded.

Reliability score

 Supported based on 1 antibody.
HPA022021
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

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

Cytoband

 q21.31

Chromosome location (bp)

 44849943 - 44899662

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000108883 (version 83.38)

Entrez gene

 9343

UniProt

 Q15029 (UniProt - Evidence at protein level)

neXtProt

 NX_Q15029

Antibodypedia

 EFTUD2 antibodies

PROTEIN BROWSER
EFTUD2-002
EFTUD2-003
EFTUD2-004
EFTUD2-006
EFTUD2-011
EFTUD2-014
EFTUD2-025

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
EFTUD2-002
ENSP00000392094
ENST00000426333
Q15029 [Direct mapping]
116 kDa U5 small nuclear ribonucleoprotein component
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000398 [mRNA splicing, via spliceosome]
GO:0003924 [GTPase activity]
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005634 [nucleus]
GO:0005654 [nucleoplasm]
GO:0005681 [spliceosomal complex]
GO:0005737 [cytoplasm]
GO:0006397 [mRNA processing]
GO:0008380 [RNA splicing]
GO:0010467 [gene expression]
GO:0015030 [Cajal body]
GO:0016020 [membrane]
GO:0016607 [nuclear speck]
GO:0035690 [cellular response to drug]
GO:0042220 [response to cocaine]
GO:0044822 [poly(A) RNA binding]
GO:0071013 [catalytic step 2 spliceosome]
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 972 aa
109.4 kDa 		No 0
EFTUD2-003
ENSP00000465058
ENST00000592576
Q15029 [Direct mapping]
116 kDa U5 small nuclear ribonucleoprotein component
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000398 [mRNA splicing, via spliceosome]
GO:0003924 [GTPase activity]
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005654 [nucleoplasm]
GO:0005681 [spliceosomal complex]
GO:0005737 [cytoplasm]
GO:0006397 [mRNA processing]
GO:0008380 [RNA splicing]
GO:0010467 [gene expression]
GO:0015030 [Cajal body]
GO:0016020 [membrane]
GO:0016607 [nuclear speck]
GO:0044822 [poly(A) RNA binding]
GO:0071013 [catalytic step 2 spliceosome]
Show all
 962 aa
108.3 kDa 		No 0
EFTUD2-004
ENSP00000385873
ENST00000402521
Q15029 [Direct mapping]
116 kDa U5 small nuclear ribonucleoprotein component
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000398 [mRNA splicing, via spliceosome]
GO:0003924 [GTPase activity]
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005654 [nucleoplasm]
GO:0005681 [spliceosomal complex]
GO:0005737 [cytoplasm]
GO:0006397 [mRNA processing]
GO:0008380 [RNA splicing]
GO:0010467 [gene expression]
GO:0015030 [Cajal body]
GO:0016020 [membrane]
GO:0016607 [nuclear speck]
GO:0044822 [poly(A) RNA binding]
GO:0071013 [catalytic step 2 spliceosome]
Show all
 937 aa
105.4 kDa 		No 0
EFTUD2-006
ENSP00000467805
ENST00000591382
Q15029 [Direct mapping]
116 kDa U5 small nuclear ribonucleoprotein component
Show all
Predicted intracellular proteins
Plasma proteins
Disease related genes
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0000398 [mRNA splicing, via spliceosome]
GO:0003924 [GTPase activity]
GO:0005515 [protein binding]
GO:0005525 [GTP binding]
GO:0005654 [nucleoplasm]
GO:0005681 [spliceosomal complex]
GO:0005737 [cytoplasm]
GO:0006397 [mRNA processing]
GO:0008380 [RNA splicing]
GO:0010467 [gene expression]
GO:0015030 [Cajal body]
GO:0016020 [membrane]
GO:0016607 [nuclear speck]
GO:0044822 [poly(A) RNA binding]
GO:0071013 [catalytic step 2 spliceosome]
Show all
 972 aa
109.4 kDa 		No 0
EFTUD2-011
ENSP00000464882
ENST00000593072
K7EIT3 [Direct mapping]
116 kDa U5 small nuclear ribonucleoprotein component
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 148 aa
17 kDa 		No 0
EFTUD2-014
ENSP00000464908
ENST00000592701
K7EIV5 [Direct mapping]
116 kDa U5 small nuclear ribonucleoprotein component
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
 106 aa
12.2 kDa 		No 0
EFTUD2-025
ENSP00000467249
ENST00000590124
K7EP67 [Direct mapping]
116 kDa U5 small nuclear ribonucleoprotein component
Show all
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005525 [GTP binding]
Show all
 223 aa
25.1 kDa 		No 0

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.