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Aliases for EFTUD2 Gene

Aliases for EFTUD2 Gene

  • Elongation Factor Tu GTP Binding Domain Containing 2 2 3 5
  • Elongation Factor Tu GTP-Binding Domain-Containing Protein 2 3 4
  • U5 SnRNP-Specific Protein, 116 KDa 3 4
  • SNU114 Homolog 3 4
  • Snrp116 3 4
  • HSNU114 3 4
  • U5 SnRNP Specific Protein 2
  • U5-116 KDa 4
  • SNRNP116 3
  • U5-116KD 3
  • KIAA0031 4
  • 116 KD 2
  • Snu114 3
  • MFDGA 3
  • MFDM 3

External Ids for EFTUD2 Gene

Previous GeneCards Identifiers for EFTUD2 Gene

  • GC17M040285
  • GC17M042927
  • GC17M038694

Summaries for EFTUD2 Gene

Entrez Gene Summary for EFTUD2 Gene

  • 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]

GeneCards Summary for EFTUD2 Gene

EFTUD2 (Elongation Factor Tu GTP Binding Domain Containing 2) is a Protein Coding gene. Diseases associated with EFTUD2 include Mandibulofacial Dysostosis, Guion-Almeida Type and Choanal Atresia. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. GO annotations related to this gene include poly(A) RNA binding and GTPase activity. An important paralog of this gene is EEF2.

UniProtKB/Swiss-Prot for EFTUD2 Gene

  • Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex required for pre-mRNA splicing. Binds GTP.

Gene Wiki entry for EFTUD2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EFTUD2 Gene

Genomics for EFTUD2 Gene

Regulatory Elements for EFTUD2 Gene

Enhancers for EFTUD2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around EFTUD2 on UCSC Golden Path with GeneCards custom track

Promoters for EFTUD2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around EFTUD2 on UCSC Golden Path with GeneCards custom track

Genomic Location for EFTUD2 Gene

Chromosome:
17
Start:
44,849,943 bp from pter
End:
44,899,662 bp from pter
Size:
49,720 bases
Orientation:
Minus strand

Genomic View for EFTUD2 Gene

Genes around EFTUD2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EFTUD2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EFTUD2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EFTUD2 Gene

Proteins for EFTUD2 Gene

  • Protein details for EFTUD2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q15029-U5S1_HUMAN
    Recommended name:
    116 kDa U5 small nuclear ribonucleoprotein component
    Protein Accession:
    Q15029
    Secondary Accessions:
    • B4DK30
    • B4DMC0
    • D3DX58
    • K7EJ81
    • Q9BUR0

    Protein attributes for EFTUD2 Gene

    Size:
    972 amino acids
    Molecular mass:
    109436 Da
    Quaternary structure:
    • Component of the U4/U6-U5 tri-snRNP complex composed of the U4, U6 and U5 snRNAs and at least PRPF3, PRPF4, PRPF6, PRPF8, PRPF31, SNRNP200, TXNL4A, SNRNP40, DDX23, CD2BP2, PPIH, SNU13, EFTUD2, SART1 and USP39. Identified in the spliceosome C complex. Interacts with ERBB4 and PRPF8. Interacts with PIH1D1 (PubMed:24656813).
    SequenceCaution:
    • Sequence=BAA04699.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Alternative splice isoforms for EFTUD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EFTUD2 Gene

Proteomics data for EFTUD2 Gene at MOPED

Post-translational modifications for EFTUD2 Gene

  • Ubiquitination at Lys 352, Lys 405, Lys 409, Lys 581, and Lys 790
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EFTUD2 Gene

Domains & Families for EFTUD2 Gene

Graphical View of Domain Structure for InterPro Entry

Q15029

UniProtKB/Swiss-Prot:

U5S1_HUMAN :
  • Contains 1 tr-type G (guanine nucleotide-binding) domain.
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily.
Domain:
  • Contains 1 tr-type G (guanine nucleotide-binding) domain.
Family:
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily.
genes like me logo Genes that share domains with EFTUD2: view

No data available for Gene Families for EFTUD2 Gene

Function for EFTUD2 Gene

Molecular function for EFTUD2 Gene

UniProtKB/Swiss-Prot Function:
Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex required for pre-mRNA splicing. Binds GTP.
genes like me logo Genes that share phenotypes with EFTUD2: view

Human Phenotype Ontology for EFTUD2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for EFTUD2 Gene

Localization for EFTUD2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EFTUD2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for EFTUD2 Gene COMPARTMENTS Subcellular localization image for EFTUD2 gene
Compartment Confidence
nucleus 5
cytosol 3
mitochondrion 1

Gene Ontology (GO) - Cellular Components for EFTUD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA --
GO:0016020 membrane IDA 19946888
genes like me logo Genes that share ontologies with EFTUD2: view

Pathways & Interactions for EFTUD2 Gene

genes like me logo Genes that share pathways with EFTUD2: view

Pathways by source for EFTUD2 Gene

1 KEGG pathway for EFTUD2 Gene

Gene Ontology (GO) - Biological Process for EFTUD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0042220 response to cocaine IEA --
genes like me logo Genes that share ontologies with EFTUD2: view

No data available for SIGNOR curated interactions for EFTUD2 Gene

Drugs & Compounds for EFTUD2 Gene

(1) Drugs for EFTUD2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Guanosine triphosphate Experimental Pharma 0
genes like me logo Genes that share compounds with EFTUD2: view

Transcripts for EFTUD2 Gene

Unigene Clusters for EFTUD2 Gene

Elongation factor Tu GTP binding domain containing 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for EFTUD2 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7a · 7b ^ 8a · 8b · 8c ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17a ·
SP1: - - - - -
SP2: -
SP3:
SP4: - - - - -
SP5:
SP6:
SP7: - - - - - - -
SP8: - - - - - -
SP9: - - - -
SP10: - -
SP11: - - -
SP12:
SP13:
SP14:

ExUns: 17b ^ 18a · 18b ^ 19a · 19b · 19c · 19d ^ 20 ^ 21 ^ 22a · 22b ^ 23a · 23b ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31a · 31b · 31c
SP1: - - -
SP2: - - -
SP3: -
SP4:
SP5: -
SP6: - -
SP7:
SP8:
SP9:
SP10:
SP11:
SP12: - -
SP13:
SP14: -

Relevant External Links for EFTUD2 Gene

GeneLoc Exon Structure for
EFTUD2
ECgene alternative splicing isoforms for
EFTUD2

Expression for EFTUD2 Gene

mRNA expression in normal human tissues for EFTUD2 Gene

Protein differential expression in normal tissues from HIPED for EFTUD2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (12.4) and Tlymphocyte (6.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for EFTUD2 Gene



SOURCE GeneReport for Unigene cluster for EFTUD2 Gene Hs.151787

genes like me logo Genes that share expression patterns with EFTUD2: view

Protein tissue co-expression partners for EFTUD2 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for EFTUD2 Gene

Orthologs for EFTUD2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for EFTUD2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia EFTUD2 35
  • 92.66 (n)
  • 99.49 (a)
EFTUD2 36
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia EFTUD2 35
  • 92.76 (n)
  • 99.9 (a)
EFTUD2 36
  • 100 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Eftud2 35
  • 91.53 (n)
  • 99.38 (a)
Eftud2 16
Eftud2 36
  • 99 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia EFTUD2 35
  • 99.79 (n)
  • 100 (a)
EFTUD2 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Eftud2 35
  • 91.53 (n)
  • 99.49 (a)
oppossum
(Monodelphis domestica)
Mammalia EFTUD2 36
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 27 (a)
OneToMany
-- 36
  • 88 (a)
OneToMany
-- 36
  • 100 (a)
OneToMany
-- 36
  • 94 (a)
OneToMany
chicken
(Gallus gallus)
Aves EFTUD2 35
  • 83.4 (n)
  • 98.05 (a)
EFTUD2 36
  • 98 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia EFTUD2 36
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eftud2 35
  • 79.56 (n)
  • 94.14 (a)
Str.1253 35
African clawed frog
(Xenopus laevis)
Amphibia snrp116-pending-prov 35
zebrafish
(Danio rerio)
Actinopterygii eftud2 35
  • 77.95 (n)
  • 90.95 (a)
zgc66214 35
eftud2 36
  • 92 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10684 35
fruit fly
(Drosophila melanogaster)
Insecta CG4849 35
  • 68.21 (n)
  • 75.31 (a)
CG4849 36
  • 75 (a)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea eftu-2 35
  • 64.04 (n)
  • 70.23 (a)
eftu-2 36
  • 70 (a)
OneToOne
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL124W 35
  • 48.17 (n)
  • 39.35 (a)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A06688g 35
  • 46.74 (n)
  • 36.44 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNU114 35
  • 46.42 (n)
  • 37.92 (a)
EFT2 36
  • 37 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons MEE5 35
  • 60.7 (n)
  • 62.22 (a)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9103 35
barley
(Hordeum vulgare)
Liliopsida Hv.4693 35
rice
(Oryza sativa)
Liliopsida Os.15458 35
Os06g0608300 35
  • 58.71 (n)
  • 61.63 (a)
wheat
(Triticum aestivum)
Liliopsida Ta.28962 35
corn
(Zea mays)
Liliopsida Zm.10949 35
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13832 35
bread mold
(Neurospora crassa)
Ascomycetes NCU02572 35
  • 59.08 (n)
  • 56.87 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cwf10 35
  • 55.35 (n)
  • 55.11 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3896 36
  • 76 (a)
OneToOne
Species with no ortholog for EFTUD2:
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for EFTUD2 Gene

ENSEMBL:
Gene Tree for EFTUD2 (if available)
TreeFam:
Gene Tree for EFTUD2 (if available)

Paralogs for EFTUD2 Gene

Paralogs for EFTUD2 Gene

(3) SIMAP similar genes for EFTUD2 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for EFTUD2 Gene

genes like me logo Genes that share paralogs with EFTUD2: view

Variants for EFTUD2 Gene

Sequence variations from dbSNP and Humsavar for EFTUD2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1056505 - 44,854,298(-) GTGGG(G/T)AACCA nc-transcript-variant, reference, missense
VAR_067580 Mandibulofacial dysostosis with microcephaly (MFDM)
VAR_067581 Mandibulofacial dysostosis with microcephaly (MFDM)
VAR_067582 Mandibulofacial dysostosis with microcephaly (MFDM)
rs1056754 -- 44,851,081(-) TCCTT(C/T)TGTGG nc-transcript-variant, utr-variant-3-prime

Structural Variations from Database of Genomic Variants (DGV) for EFTUD2 Gene

Variant ID Type Subtype PubMed ID
nsv833457 CNV Loss 17160897

Variation tolerance for EFTUD2 Gene

Residual Variation Intolerance Score: 2.42% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.69; 14.61% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EFTUD2 Gene

Human Gene Mutation Database (HGMD)
EFTUD2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EFTUD2 Gene

Disorders for EFTUD2 Gene

MalaCards: The human disease database

(11) MalaCards diseases for EFTUD2 Gene - From: OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mandibulofacial dysostosis, guion-almeida type
  • mandibulofacial dysostosis with microcephaly
choanal atresia
  • pca
dysostosis
  • dysostoses
microcephaly
  • microcephalus
esophageal atresia
  • congenital atresia of esophagus
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

U5S1_HUMAN
  • Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536]: A rare syndrome characterized by progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental delay, and speech delay. Many patients have major sequelae, including choanal atresia that results in respiratory difficulties, conductive hearing loss, and cleft palate. {ECO:0000269 PubMed:22305528}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for EFTUD2

Genetic Association Database (GAD)
EFTUD2
Human Genome Epidemiology (HuGE) Navigator
EFTUD2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EFTUD2
genes like me logo Genes that share disorders with EFTUD2: view

No data available for Genatlas for EFTUD2 Gene

Publications for EFTUD2 Gene

  1. An evolutionarily conserved U5 snRNP-specific protein is a GTP- binding factor closely related to the ribosomal translocase EF-2. (PMID: 9233818) Fabrizio P. … Luehrmann R. (EMBO J. 1997) 2 3 4 23 67
  2. Inhibition of SNW1 association with spliceosomal proteins promotes apoptosis in breast cancer cells. (PMID: 25450007) Sato N. … Senga T. (Cancer Med 2015) 3
  3. Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome. (PMID: 25735261) Sarkar A. … Lalani S.R. (Am. J. Med. Genet. A 2015) 3
  4. DNA damage shifts circadian clock time via Hausp-dependent Cry1 stabilization. (PMID: 25756610) Papp S.J. … Lamia K.A. (Elife 2015) 3
  5. EFTUD2 Is a Novel Innate Immune Regulator Restricting Hepatitis C Virus Infection through the RIG-I/MDA5 Pathway. (PMID: 25878102) Zhu C. … Chung R.T. (J. Virol. 2015) 3

Products for EFTUD2 Gene

Sources for EFTUD2 Gene

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