NP_001245283.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
116 kDa U5 small nuclear ribonucleoprotein component isoform c
NCBI Official Synonym Full Names
elongation factor Tu GTP binding domain containing 2
NCBI Official Synonym Symbols
MFDM; MFDGA; Snu114; Snrp116; SNRNP116; U5-116KD [Similar Products]
NCBI Protein Information
116 kDa U5 small nuclear ribonucleoprotein component; hSNU114; SNU114 homolog; U5 snRNP-specific protein, 116 kDa; elongation factor Tu GTP-binding domain-containing protein 2
UniProt Protein Name
116 kDa U5 small nuclear ribonucleoprotein component
UniProt Synonym Protein Names
Elongation factor Tu GTP-binding domain-containing protein 2; SNU114 homolog; hSNU114; U5 snRNP-specific protein, 116 kDa; U5-116 kDa
UniProt Synonym Gene Names
UniProt Entry Name
U5S1_HUMAN
NCBI Summary for EFTUD2
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]
UniProt Comments for EFTUD2
EFTUD2: Component of the U5 snRNP complex required for pre-mRNA splicing. Binds GTP. Defects in EFTUD2 are the cause of mandibulofacial dysostosis with microcephaly (MFDM). 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. Belongs to the GTP-binding elongation factor family. EF-G/EF-2 subfamily. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: RNA-binding; Spliceosome; RNA splicing
Chromosomal Location of Human Ortholog: 17q21.31
Cellular Component: nucleoplasm; Cajal body; spliceosome; membrane; cytoplasm; nuclear speck
Molecular Function: GTPase activity; protein binding; GTP binding
Biological Process: nuclear mRNA splicing, via spliceosome; RNA splicing; gene expression; mRNA processing
Disease: Mandibulofacial Dysostosis, Guion-almeida Type
Research Articles on EFTUD2
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Products associated with EFTUD2 elisa kit
Pathways associated with EFTUD2 elisa kit
Diseases associated with EFTUD2 elisa kit
Organs/Tissues associated with EFTUD2 elisa kit
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