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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. GO annotations related to this gene include poly(A) RNA binding and 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

Regulatory Elements for EFTUD2 Gene

Enhancers for EFTUD2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17H044898 1.2 ENCODE 57.6 -0.6 -649 4 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC PPARGC1A EFTUD2 GJC1 FAM187A TMUB2 HEXIM1 ASB16-AS1 ENSG00000267344 UBTF ENSG00000224505 PIR50226
GH17H044904 1.2 Ensembl ENCODE 49 -6.6 -6614 2 ATF1 TCF12 GATA2 FOS ATF7 NCOA1 ZNF592 MEF2D MBD2 SMARCA4 EFTUD2 FAM187A UBTF ASB16-AS1 PIR49404 GC17P044908 GC17P044905
GH17H045143 1.8 FANTOM5 ENCODE dbSUPER 29.4 -248.3 -248285 9 MLX FEZF1 DMAP1 YBX1 YY1 SLC30A9 ZNF143 ZNF548 SP3 NFYC ENSG00000262372 UBTF ASB16-AS1 TMUB2 ENSG00000224505 LINC02210 HEXIM1 EFTUD2 MAP3K14-AS1 ENSG00000260793
GH17H044887 1 Ensembl ENCODE 48.3 +11.1 11082 1 ESRRA SAP130 ARID4B CEBPG ZNF644 RARA TEAD3 POLR2A NR2F6 GATAD2A EFTUD2 RN7SL405P CCDC103
GH17H045059 1.4 ENCODE dbSUPER 21.6 -162.1 -162085 4 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 ENSG00000262372 DCAKD ENSG00000224505 EFTUD2 TMUB2 MAP3K14-AS1 ASB16-AS1 C17orf53 UBTF LSM12
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

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
ENSR00000094825 562 1801 HDGF PKNOX1 FOXA2 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2

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};

    Three dimensional structures from OCA and Proteopedia for EFTUD2 Gene

    Alternative splice isoforms for EFTUD2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for EFTUD2 Gene

Post-translational modifications for EFTUD2 Gene

  • Ubiquitination at posLast=352352, posLast=405405, isoforms=2, 3409, isoforms=2, 3581, 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

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins

Graphical View of Domain Structure for InterPro Entry

Q15029

UniProtKB/Swiss-Prot:

U5S1_HUMAN :
  • Belongs to the TRAFAC class translation factor GTPase superfamily. Classic translation factor GTPase family. EF-G/EF-2 subfamily.
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

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 22658674
GO:0003924 GTPase activity TAS,IEA --
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

Clone Products

  • Applied Biological Materials Clones for EFTUD2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

COMPARTMENTS
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

Clone Products

  • Applied Biological Materials Clones for EFTUD2
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 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:

EFTUD2

SOURCE GeneReport for Unigene cluster for EFTUD2 Gene:

Hs.151787

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
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
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
Thorax:
  • heart
  • heart valve
  • lung
Limb:
  • digit
  • finger
  • hand
  • upper limb
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with EFTUD2: view

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
oppossum
(Monodelphis domestica)
Mammalia EFTUD2 34
  • 100 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 100 (a)
OneToMany
-- 34
  • 94 (a)
OneToMany
-- 34
  • 88 (a)
OneToMany
-- 34
  • 27 (a)
OneToMany
chimpanzee
(Pan troglodytes)
Mammalia EFTUD2 33 34
  • 99.79 (n)
dog
(Canis familiaris)
Mammalia EFTUD2 33 34
  • 92.76 (n)
cow
(Bos Taurus)
Mammalia EFTUD2 33 34
  • 92.66 (n)
mouse
(Mus musculus)
Mammalia Eftud2 33 16 34
  • 91.53 (n)
rat
(Rattus norvegicus)
Mammalia Eftud2 33
  • 91.53 (n)
chicken
(Gallus gallus)
Aves EFTUD2 33 34
  • 83.4 (n)
lizard
(Anolis carolinensis)
Reptilia EFTUD2 34
  • 98 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia eftud2 33
  • 79.56 (n)
Str.1253 33
African clawed frog
(Xenopus laevis)
Amphibia snrp116-pending-prov 33
zebrafish
(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 34 33
  • 68.21 (n)
OneToOne
worm
(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)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons MEE5 33
  • 60.7 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9103 33
rice
(Oryza sativa)
Liliopsida Os06g0608300 33
  • 58.71 (n)
Os.15458 33
barley
(Hordeum vulgare)
Liliopsida Hv.4693 33
wheat
(Triticum aestivum)
Liliopsida Ta.28962 33
corn
(Zea mays)
Liliopsida Zm.10949 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.3896 34
  • 76 (a)
OneToOne
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

ENSEMBL:
Gene Tree for EFTUD2 (if available)
TreeFam:
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 Sequence Context AA Info Type
rs387906877 Pathogenic, Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536] 44,876,019(-) TTGAC(C/T)GGCTG nc-transcript-variant, reference, missense
rs387906879 Pathogenic, Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536] 44,859,132(-) CTACC(G/T)GGACT nc-transcript-variant, reference, missense
VAR_067581 Mandibulofacial dysostosis with microcephaly (MFDM) [MIM:610536]
rs387906878 Pathogenic 44,851,763(-) AGCCA(C/T)AGCCA nc-transcript-variant, reference, stop-gained
rs397515431 Pathogenic 44,879,635(-) AGGAC(A/G)TGTGA nc-transcript-variant, reference, missense

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)

Relevant External Links for EFTUD2 Gene

Human Gene Mutation Database (HGMD)
EFTUD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFTUD2

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, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mandibulofacial dysostosis, guion-almeida type
  • mandibulofacial dysostosis with microcephaly
dysostosis
  • dysostoses
esophageal atresia
  • congenital atresia of esophagus
microcephaly
  • microcephalus
choanal atresia, posterior
  • pca
- 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 … Lührmann R (The EMBO journal 1997) 2 3 4 22 60
  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 60
  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 45 60
  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 60
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 60

Products for EFTUD2 Gene

Sources for EFTUD2 Gene

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