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] See more...

Aliases for EFTUD2 Gene

Aliases for EFTUD2 Gene

  • Elongation Factor Tu GTP Binding Domain Containing 2 2 3 5
  • 116 KDa U5 Small Nuclear Ribonucleoprotein Component 2 3 4
  • Elongation Factor Tu GTP-Binding Domain-Containing Protein 2 3 4
  • U5 SnRNP-Specific Protein, 116 KDa 3 4
  • SNU114 Homolog 3 4
  • SNRNP116 2 3
  • U5-116KD 2 3
  • Snrp116 2 3
  • HSNU114 3 4
  • Snu114 2 3
  • U5 SnRNP Specific Protein, 116 KD 2
  • U5-116 KDa 4
  • KIAA0031 4
  • SNRP116 4
  • EFTUD2 5
  • 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 Tracheoesophageal Fistula With Or Without Esophageal Atresia. Among its related pathways are mRNA Splicing - Major Pathway and mRNA Splicing - Minor Pathway. Gene Ontology (GO) annotations related to this gene include GTPase activity. An important paralog of this gene is EEF2.

UniProtKB/Swiss-Prot Summary for EFTUD2 Gene

  • Required for pre-mRNA splicing as component of the spliceosome, including pre-catalytic, catalytic and post-catalytic spliceosomal complexes (PubMed:28502770, PubMed:28781166, PubMed:28076346, PubMed:29361316, PubMed:30315277, PubMed:29360106, PubMed:29301961, PubMed:30705154). Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome (PubMed:16723661).

Gene Wiki entry for EFTUD2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EFTUD2 Gene

Genomics for EFTUD2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for EFTUD2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around EFTUD2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EFTUD2

Top Transcription factor binding sites by QIAGEN in the EFTUD2 gene promoter:
  • AP-1
  • ATF-2
  • Bach1
  • c-Jun
  • HEN1
  • PPAR-gamma1
  • PPAR-gamma2
  • STAT3

Genomic Locations for EFTUD2 Gene

Latest Assembly
chr17:44,849,948-44,899,445
(GRCh38/hg38)
Size:
49,498 bases
Orientation:
Minus strand

Previous Assembly
chr17:42,927,316-42,976,813
(GRCh37/hg19 by Entrez Gene)
Size:
49,498 bases
Orientation:
Minus strand

chr17:42,927,311-42,977,030
(GRCh37/hg19 by Ensembl)
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 U5 snRNP and the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome (PubMed:26912367, PubMed:16723661). The U4/U6-U5 tri-snRNP complex is 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 (PubMed:16723661, PubMed:26912367). Component of the pre-catalytic, catalytic and post-catalytic spliceosome complexes (PubMed:28502770, PubMed:28781166, PubMed:28076346, PubMed:29361316, PubMed:30315277, PubMed:29360106, PubMed:29301961, PubMed:30705154). Interacts with ERBB4 and PRPF8. Interacts with PIH1D1 (PubMed:24656813). Interacts with RPAP3 and URI1 in a ZNHIT2-dependent manner (PubMed:28561026).
    SequenceCaution:
    • Sequence=BAA04699.2; Type=Erroneous initiation; Note=Extended N-terminus.; 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 Lys352, Lys405, Lys409, Lys581, and Lys790
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for EFTUD2 Gene

Domains & Families for EFTUD2 Gene

Gene Families for EFTUD2 Gene

Suggested Antigen Peptide Sequences for EFTUD2 Gene

GenScript: Design optimal peptide antigens:
  • cDNA, FLJ78997, highly similar to 116 kDa U5 small nuclear ribonucleoprotein component (B4DK30_HUMAN)
  • U5-116KD protein (Q6IBM8_HUMAN)
  • Small nuclear ribonucleoprotein component (Q8IXJ3_HUMAN)
  • U5 snRNP-specific protein, 116 kDa (U5S1_HUMAN)

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:
Required for pre-mRNA splicing as component of the spliceosome, including pre-catalytic, catalytic and post-catalytic spliceosomal complexes (PubMed:28502770, PubMed:28781166, PubMed:28076346, PubMed:29361316, PubMed:30315277, PubMed:29360106, PubMed:29301961, PubMed:30705154). Component of the U5 snRNP and the U4/U6-U5 tri-snRNP complex, a building block of the spliceosome (PubMed:16723661).

Phenotypes From GWAS Catalog for EFTUD2 Gene

Gene Ontology (GO) - Molecular Function for EFTUD2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0003723 RNA binding HDA 22658674
GO:0003924 GTPase activity IBA 21873635
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:
  • Eftud2 Eftud2<tm1b(KOMP)Wtsi>

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFTUD2

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
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
  • Cytosol (2)
  • Vesicles (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,IDA 28076346
GO:0005654 nucleoplasm TAS --
GO:0005681 spliceosomal complex IEA --
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 IEA --
GO:0008380 RNA splicing IEA --
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

mRNA/cDNA for EFTUD2 Gene

4 REFSEQ mRNAs :
17 NCBI additional mRNA sequence :
26 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EFTUD2

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

Expression for EFTUD2 Gene

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



Protein tissue co-expression partners for EFTUD2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EFTUD2

SOURCE GeneReport for Unigene cluster for EFTUD2 Gene:

Hs.151787

Evidence on tissue expression from TISSUES for EFTUD2 Gene

  • Nervous system(5)
  • Liver(4.6)
  • Muscle(4.4)
  • Bone marrow(4.3)
  • Lung(4.1)
  • Skin(3.9)
  • Kidney(3.3)
  • Heart(3.3)
  • Eye(2.9)
  • Intestine(2.7)
  • Blood(2.6)
  • Pancreas(2.3)

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
Regions:
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 for research

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
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 30
  • 100 (a)
OneToMany
-- 30
  • 94 (a)
OneToMany
-- 30
  • 88 (a)
OneToMany
-- 30
  • 27 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia EFTUD2 30
  • 100 (a)
OneToOne
Chimpanzee
(Pan troglodytes)
Mammalia EFTUD2 29 30
  • 99.79 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia EFTUD2 29 30
  • 92.76 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia EFTUD2 29 30
  • 92.66 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Eftud2 29 16 30
  • 91.53 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Eftud2 29
  • 91.53 (n)
Chicken
(Gallus gallus)
Aves EFTUD2 29 30
  • 83.4 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia EFTUD2 30
  • 98 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia eftud2 29
  • 79.56 (n)
Str.1253 29
African clawed frog
(Xenopus laevis)
Amphibia snrp116-pending-prov 29
Zebrafish
(Danio rerio)
Actinopterygii eftud2 29 30
  • 77.95 (n)
OneToOne
zgc66214 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.10684 29
Fruit Fly
(Drosophila melanogaster)
Insecta CG4849 29 30
  • 68.21 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea eftu-2 29 30
  • 64.04 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AEL124W 29
  • 48.17 (n)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0A06688g 29
  • 46.74 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SNU114 29
  • 46.42 (n)
EFT2 30
  • 37 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons MEE5 29
  • 60.7 (n)
Alicante grape
(Vitis vinifera)
eudicotyledons Vvi.9103 29
Rice
(Oryza sativa)
Liliopsida Os06g0608300 29
  • 58.71 (n)
Os.15458 29
Barley
(Hordeum vulgare)
Liliopsida Hv.4693 29
Wheat
(Triticum aestivum)
Liliopsida Ta.28962 29
Corn
(Zea mays)
Liliopsida Zm.10949 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.3896 30
  • 76 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU02572 29
  • 59.08 (n)
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes cwf10 29
  • 55.35 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.13832 29
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)
Aminode:
Evolutionary constrained regions (ECRs) for EFTUD2: view image
Alliance of Genome Resources:
Additional Orthologs for EFTUD2

Paralogs for EFTUD2 Gene

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

  • U5S1_HUMAN
  • K7EIT3_HUMAN
  • K7EIV5_HUMAN
  • K7EJ74_HUMAN
  • K7EJ81_HUMAN
  • K7EP67_HUMAN
  • K7EQ26_HUMAN
  • K7ERJ5_HUMAN
genes like me logo Genes that share paralogs with EFTUD2: view

Variants for EFTUD2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EFTUD2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
1012422 Likely Pathogenic: not provided 44,876,061(-) G/A
NM_004247.4(EFTUD2):c.742C>T (p.Gln248Ter)
NONSENSE
1029804 Pathogenic: Mandibulofacial dysostosis-microcephaly syndrome 44,863,736(-) GC/G
NM_004247.4(EFTUD2):c.1331del (p.Gly444fs)
FRAMESHIFT
1029805 Pathogenic: Mandibulofacial dysostosis-microcephaly syndrome 44,883,696(-) CT/C
NM_004247.4(EFTUD2):c.378del (p.Glu127fs)
FRAMESHIFT
1036678 Uncertain Significance: not provided 44,876,046(-) C/T
NM_004247.4(EFTUD2):c.757G>A (p.Val253Ile)
MISSENSE
840994 Pathogenic: not provided 44,865,067(-) T/C
NM_004247.4(EFTUD2):c.1150-2A>G
SPLICE_ACCEPTOR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for EFTUD2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)
EFTUD2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EFTUD2
Leiden Open Variation Database (LOVD)
EFTUD2

SNP Genotyping and Copy Number Assays for research

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

Disorders for EFTUD2 Gene

MalaCards: The human disease database

(26) MalaCards diseases for EFTUD2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
mandibulofacial dysostosis, guion-almeida type
  • mfdga
tracheoesophageal fistula with or without esophageal atresia
  • esophageal atresia with or without tracheoesophageal fistula
dysostosis
  • dysostoses
esophageal atresia/tracheoesophageal fistula
  • esophageal atresia and/or tracheoesophageal fistula
microtia
- 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 variants affecting the gene represented in this entry.

Additional Disease Information for EFTUD2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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
  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 72
  3. Structure and Conformational Dynamics of the Human Spliceosomal Bact Complex. (PMID: 29361316) Haselbach D … Stark H (Cell 2018) 3 4
  4. Cryo-EM structure of a human spliceosome activated for step 2 of splicing. (PMID: 28076346) Bertram K … Lührmann R (Nature 2017) 3 4
  5. R2TP/Prefoldin-like component RUVBL1/RUVBL2 directly interacts with ZNHIT2 to regulate assembly of U5 small nuclear ribonucleoprotein. (PMID: 28561026) Cloutier P … Coulombe B (Nature communications 2017) 3 4

Products for EFTUD2 Gene

Sources for EFTUD2 Gene