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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
  • 116 KDa U5 Small Nuclear Ribonucleoprotein Component 3
  • U5 SnRNP Specific Protein, 116 KD 2
  • U5-116 KDa 4
  • SNRNP116 3
  • U5-116KD 3
  • KIAA0031 4
  • 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 Dysostosis. Among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. Gene Ontology (GO) annotations related to this gene include GTPase activity.

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

Additional gene information for EFTUD2 Gene

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

Genomics for EFTUD2 Gene

GeneHancer (GH) Regulatory Elements for EFTUD2 Gene

Promoters and enhancers for EFTUD2 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17I044898 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 599.6 -0.6 -611 4.1 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF213 E2F8 ZNF143 EFTUD2 FAM187A CCDC103 GJC1 TMUB2 HEXIM1 ASB16-AS1 ENSG00000267344 PIR50226
GH17I045143 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 27.5 -248.3 -248285 9.6 CLOCK MLX FEZF1 DMAP1 YBX1 IRF4 YY1 SLC30A9 ZNF213 E2F8 HEXIM1 ENSG00000276728 GC17M045149 ENSG00000262372 ASB16-AS1 UBTF TMUB2 ENSG00000224505 LINC02210 MAP3K14-AS1
GH17I044707 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 32.3 +191.0 190995 2.3 HDGF PKNOX1 SMAD1 FOXA2 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 DBF4B TMUB2 ASB16-AS1 ENSG00000224505 EFTUD2 UBTF C17orf53 MAP3K14-AS1 HEXIM1 MAP3K14
GH17I044946 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 26.5 -47.8 -47791 2.3 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 POLR2B ZNF766 ENSG00000267334 KIF18B EFTUD2 TMUB2 ASB16-AS1 MAP3K14 ENSG00000224505 GPATCH8 GJC1 UBTF
GH17I044904 Enhancer 1.1 Ensembl ENCODE 49.1 -6.6 -6614 3 ATF1 TCF12 GATA2 FOS ATF7 NCOA1 ZNF592 MBD2 MEF2D ATF4 GC17M044904 GC17P044905 GC17P044908 PIR49404 EFTUD2 FAM187A UBTF ASB16-AS1 CCDC103 GFAP
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around EFTUD2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the EFTUD2 gene promoter:

Genomic Locations for EFTUD2 Gene

Genomic Locations for EFTUD2 Gene
49,720 bases
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:
    Recommended name:
    116 kDa U5 small nuclear ribonucleoprotein component
    Protein Accession:
    Secondary Accessions:
    • B4DK30
    • B4DMC0
    • D3DX58
    • K7EJ81
    • Q9BUR0

    Protein attributes for EFTUD2 Gene

    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).
    • Sequence=BAA04699.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for EFTUD2 Gene

    Alternative splice isoforms for EFTUD2 Gene


neXtProt entry for EFTUD2 Gene

Post-translational modifications for EFTUD2 Gene

  • Ubiquitination at posLast=352352, Lys405, Lys409, posLast=581581, and posLast=790790
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EFTUD2 Gene

Domains & Families for EFTUD2 Gene

Gene Families for EFTUD2 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily.
  • 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

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.

Phenotypes From GWAS Catalog for EFTUD2 Gene

Gene Ontology (GO) - Molecular Function for EFTUD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA,HDA 22658674
GO:0003924 GTPase activity IEA,TAS --
GO:0005515 protein binding IPI 9774689
GO:0005525 GTP binding IEA --
genes like me logo Genes that share ontologies with EFTUD2: view
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 Models for EFTUD2 Gene

MGI Knock Outs for EFTUD2:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for EFTUD2 gene
Compartment Confidence
nucleus 5
cytosol 5
extracellular 4
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EFTUD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex TAS 9233818
GO:0005829 cytosol IDA --
GO:0015030 Cajal body IDA 15257298
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:0000398 mRNA splicing, via spliceosome TAS --
GO:0006397 mRNA processing TAS 9233818
GO:0008380 RNA splicing TAS 9233818
GO:0035690 cellular response to drug IEA --
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:

CRISPR Products

Inhibitory RNA Products

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: -
SP4: - - - - -
SP7: - - - - - - -
SP8: - - - - - -
SP9: - - - -
SP10: - -
SP11: - - -

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: -
SP5: -
SP6: - -
SP12: - -
SP14: -

Relevant External Links for EFTUD2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for EFTUD2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for EFTUD2 Gene

Protein tissue co-expression partners for EFTUD2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of EFTUD2 Gene:


SOURCE GeneReport for Unigene cluster for EFTUD2 Gene:


Evidence on tissue expression from TISSUES for EFTUD2 Gene

  • Nervous system(5)
  • Liver(4.5)
  • Bone marrow(4.3)
  • Muscle(4.3)
  • Lung(4.1)
  • Skin(3.5)
  • Heart(2.9)
  • Kidney(2.9)
  • Eye(2.4)
  • Intestine(2.4)
  • Pancreas(2.2)
  • Adrenal gland(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for EFTUD2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cheek
  • chin
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • inner ear
  • jaw
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • nose
  • outer ear
  • pharynx
  • skull
  • tooth
  • heart
  • heart valve
  • lung
  • digit
  • finger
  • hand
  • upper limb
  • hair
  • skin
genes like me logo Genes that share expression patterns with EFTUD2: view

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
(Monodelphis domestica)
Mammalia EFTUD2 34
  • 100 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 100 (a)
-- 34
  • 94 (a)
-- 34
  • 88 (a)
-- 34
  • 27 (a)
(Pan troglodytes)
Mammalia EFTUD2 33 34
  • 99.79 (n)
(Canis familiaris)
Mammalia EFTUD2 33 34
  • 92.76 (n)
(Bos Taurus)
Mammalia EFTUD2 33 34
  • 92.66 (n)
(Mus musculus)
Mammalia Eftud2 33 16 34
  • 91.53 (n)
(Rattus norvegicus)
Mammalia Eftud2 33
  • 91.53 (n)
(Gallus gallus)
Aves EFTUD2 33 34
  • 83.4 (n)
(Anolis carolinensis)
Reptilia EFTUD2 34
  • 98 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia eftud2 33
  • 79.56 (n)
Str.1253 33
African clawed frog
(Xenopus laevis)
Amphibia snrp116-pending-prov 33
(Danio rerio)
Actinopterygii eftud2 33 34
  • 77.95 (n)
zgc66214 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10684 33
fruit fly
(Drosophila melanogaster)
Insecta CG4849 33 34
  • 68.21 (n)
(Caenorhabditis elegans)
Secernentea eftu-2 33 34
  • 64.04 (n)
A. gosspyii yeast
(Ashbya gossypii)
Saccharomycetes AGOS_AEL124W 33
  • 48.17 (n)
K. lactis yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A06688g 33
  • 46.74 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNU114 33
  • 46.42 (n)
EFT2 34
  • 37 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons MEE5 33
  • 60.7 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9103 33
(Oryza sativa)
Liliopsida Os06g0608300 33
  • 58.71 (n)
Os.15458 33
(Hordeum vulgare)
Liliopsida Hv.4693 33
(Triticum aestivum)
Liliopsida Ta.28962 33
(Zea mays)
Liliopsida Zm.10949 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3896 34
  • 76 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU02572 33
  • 59.08 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cwf10 33
  • 55.35 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.13832 33
Species where no ortholog for EFTUD2 was found in the sources mined by GeneCards:
  • 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

Gene Tree for EFTUD2 (if available)
Gene Tree for EFTUD2 (if available)

Paralogs for EFTUD2 Gene

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

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

No data available for Paralogs for EFTUD2 Gene

Variants for EFTUD2 Gene

Sequence variations from dbSNP and Humsavar for EFTUD2 Gene

SNP ID Clin Chr 17 pos Variation AA Info Type
rs1057518932 likely-pathogenic, Global developmental delay, Seizures 44,855,003(-) T/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1060503433 pathogenic, Primary ciliary dyskinesia 44,901,113(-) C/T upstream_transcript_variant
rs144226204 uncertain-significance, Primary ciliary dyskinesia 44,901,080(-) C/G/T upstream_transcript_variant
rs148582322 uncertain-significance, Primary ciliary dyskinesia 44,899,756(-) G/A/C/T upstream_transcript_variant
rs150876063 likely-benign, Primary ciliary dyskinesia 44,901,558(-) G/A/T upstream_transcript_variant

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

Variant ID Type Subtype PubMed ID
nsv1146669 OTHER inversion 26484159
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)

Additional Variant Information for EFTUD2 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

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

Disorders for EFTUD2 Gene

MalaCards: The human disease database

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

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


  • 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.

Additional Disease Information for EFTUD2

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 … Lührmann R (The EMBO journal 1997) 2 3 4 22 58
  2. Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. (PMID: 22305528) Lines MA … Boycott KM (American journal of human genetics 2012) 3 4 58
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  4. Interactions of ErbB4 and Kap1 connect the growth factor and DNA damage response pathways. (PMID: 20858735) Gilmore-Hebert M … Stern DF (Molecular cancer research : MCR 2010) 3 4 58
  5. The network of protein-protein interactions within the human U4/U6.U5 tri-snRNP. (PMID: 16723661) Liu S … Lührmann R (RNA (New York, N.Y.) 2006) 3 4 58

Products for EFTUD2 Gene

Sources for EFTUD2 Gene

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