EFTUD2 cdna clone
EFTUD2 cDNA Clone
Gene Names
EFTUD2; MFDM; MFDGA; Snu114; Snrp116; SNRNP116; U5-116KD
Synonyms
EFTUD2; EFTUD2 cDNA Clone; EFTUD2 cdna clone
Sequence
atggataccgacttatatgatgagtttgggaattatattggaccagagcttgattctgatgaagatgatgatgaattgggtagagagaccaaagatcttgatgagatggatgatgatgacgacgacgatgacgtaggagatcatgacgatgaccaccctgggatggaggtggtgctgcatgaggacaagaagtactacccaacagccgaggaggtgtatggtcctgaggtggagaccatagttcaagaggaagacactcagcctctcacagaacccattattaagccagtgaaaaccaagaaattcactctgatggagcagacattacctgttacggtgtatgagatggatttcttggcggatctgatggataactcagagctcatcagaaatgtgaccctttgtggacatctccaccatggcaagacatgttttgtggattgtttaattgaacagactcacccggaaatcagaaagcgctatgaccaagatctgtgctatactgacatcctcttcacagagcaagagagaggtgtaggcatcaaaagcactcctgtgacagtggtcttgccagacaccaaaggaaaatcttatctcttcaatatcatggacactccaggacatgtgaatttctctgatgaggtcacagctggcttgcgcatctcagatggagtggtccttttcattgatgctgctgagggggtgatgctgaacacagagcggctgatcaagcatgcggtgcaggagaggctggcagtcactgtgtgcatcaacaagattgaccggctgatcctggagctgaagctgcctccaactgatgcttattacaagctgcgccacattgtggatgaggtcaatggattaataagcatgtattccactgatgagaacctgatcctttccccactcctgggtaacgtctgcttctccagctcccagtacagcatctgcttcacgctggtctcctttgccaagatctatgccgacacctttggtgacattaattaccaagaatttgctaaaagactctggggtgacatctacttcaaccctaagacgcgaaagttcaccaaaaaggccccaactagcagctcccagagaagtttcgtggagtttatcttggagcctctttataagatcctcgcccaggttgtaggtgacgtggacaccagcctcccacggaccctagacgagcttggcatccacctgacgaaggaggagctgaagctgaacatccgccccttgctcaggctggtctgcaaaaagttctttggcgagttcacaggctttgtggacatgtgtgtgcagcatatcccttctccaaaggtgggcgccaagcccaagattgagcacacctacaccggtggtgtggactccgacctcggcgaggctatgagtgactgtgaccctgatggccccctgatgtgccacactactaagatgtacagcacagatgatggagtccagtttcacgcctttggccgggtgctgagtggcaccattcatgctgggcagcctgtgaaggtactgggggagaactacaccctggaggatgaggaagactcccagatatgcaccgtgggccgcctttggatctctgtggccaggtaccacatcgaggtgaaccgtgttcctgctggcaactgggttctgattgaaggtgttgatcaaccaattgtgaagacagcaaccataaccgaaccccgaggcaatgaggaggctcagattttccgacccttgaagttcaataccacatctgttatcaagattgctgtggagccagtcaacccctcagagctgcccaagatgcttgatggcctgcgcaaggtcaacaagagctatccatccctcaccaccaaggtggaggagtctggcgagcatgtgatcctgggcactggggagctctacctggactgtgtgatgcatgatttgcggaagatgtactcagagatagacatcaaggtggctgacccagttgtcacgttttgtgagacggtggtggaaacatcctccctcaagtgctttgctgaaacgcctaataagaagaacaagatcaccatgattgctgagcctcttgagaagggcctggcagaggacatagagaatgaggtggtccagattacgtggaacaggaagaagctgggagagttcttccagaccaagtacgattgggatctgctggctgcccgttccatctgggcttttggccctgatgcgactggccccaacattctggtggatgatactctgccctctgaggtggacaaggctcttcttggttcagtgaaggacagcatcgttcaaggtttccagtggggaaccagggagggccccctctgtgatgaattgattcggaatgtcaagtttaagatcctggatgcggtggttgcccaggagcccctgcaccggggcgggggccagatcatccccacagccaggagagtcgtctactctgccttcctcatggctactcctcgtctgatggagccttactactttgtagaggtccaggcccctgcagattgcgtctctgcagtttataccgtcctggccaggcgcagggggcacgtgactcaggatgcacccatcccaggctcccctctgtacaccatcaaagcttttatcccggccatcgactcttttggctttgagactgatctccggactcacacccagggacaagccttttctctgtctgtcttccaccactggcagattgtgcctggtgatcccctggacaagagcattgtcatccgccccttggagccacagccagctcctcacctggcccgggaattcatgatcaaaacccgccgtaggaagggcctcagtgaagatgtgagcatcagcaaattcttcgatgatcctatgttgctggaacttgccaaacaggatgttgtgctcaattaccccatgtga
Sequence Length
2919
Vector
pENTR223.1 or pUC
Clone Sequence Report
Provided with product shipment
NCBI and Uniprot Product Information
NCBI GI #
NCBI GeneID
Molecular Weight
108,283 Da
NCBI Official Full Name
Homo sapiens elongation factor Tu GTP binding domain containing 2, mRNA
NCBI Official Synonym Full Names
elongation factor Tu GTP binding domain containing 2
NCBI Official Symbol
EFTUD2
NCBI Official Synonym Symbols
MFDM; MFDGA; Snu114; Snrp116; SNRNP116; U5-116KD
NCBI Protein Information
116 kDa U5 small nuclear ribonucleoprotein component
UniProt Protein Name
116 kDa U5 small nuclear ribonucleoprotein component
Protein Family
UniProt Gene Name
EFTUD2
UniProt Synonym Gene Names
KIAA0031; SNRP116; hSNU114; U5-116 kDa
UniProt Entry Name
U5S1_HUMAN
NCBI Description
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 Description
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: Spliceosome; RNA-binding; RNA splicing
Chromosomal Location of Human Ortholog: 17q21.31
Cellular Component: Cajal body; cytoplasm; extracellular matrix; membrane; nuclear speck; nucleoplasm; spliceosome
Molecular Function: protein binding
Biological Process: mRNA processing; nuclear mRNA splicing, via spliceosome; RNA splicing; translation
Disease: Mandibulofacial Dysostosis, Guion-almeida Type
Research Articles on EFTUD2
Similar Products
Product Notes
The EFTUD2 eftud2 (Catalog #AAA1267916) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atggataccg acttatatga tgagtttggg aattatattg gaccagagct tgattctgat gaagatgatg atgaattggg tagagagacc aaagatcttg atgagatgga tgatgatgac gacgacgatg acgtaggaga tcatgacgat gaccaccctg ggatggaggt ggtgctgcat gaggacaaga agtactaccc aacagccgag gaggtgtatg gtcctgaggt ggagaccata gttcaagagg aagacactca gcctctcaca gaacccatta ttaagccagt gaaaaccaag aaattcactc tgatggagca gacattacct gttacggtgt atgagatgga tttcttggcg gatctgatgg ataactcaga gctcatcaga aatgtgaccc tttgtggaca tctccaccat ggcaagacat gttttgtgga ttgtttaatt gaacagactc acccggaaat cagaaagcgc tatgaccaag atctgtgcta tactgacatc ctcttcacag agcaagagag aggtgtaggc atcaaaagca ctcctgtgac agtggtcttg ccagacacca aaggaaaatc ttatctcttc aatatcatgg acactccagg acatgtgaat ttctctgatg aggtcacagc tggcttgcgc atctcagatg gagtggtcct tttcattgat gctgctgagg gggtgatgct gaacacagag cggctgatca agcatgcggt gcaggagagg ctggcagtca ctgtgtgcat caacaagatt gaccggctga tcctggagct gaagctgcct ccaactgatg cttattacaa gctgcgccac attgtggatg aggtcaatgg attaataagc atgtattcca ctgatgagaa cctgatcctt tccccactcc tgggtaacgt ctgcttctcc agctcccagt acagcatctg cttcacgctg gtctcctttg ccaagatcta tgccgacacc tttggtgaca ttaattacca agaatttgct aaaagactct ggggtgacat ctacttcaac cctaagacgc gaaagttcac caaaaaggcc ccaactagca gctcccagag aagtttcgtg gagtttatct tggagcctct ttataagatc ctcgcccagg ttgtaggtga cgtggacacc agcctcccac ggaccctaga cgagcttggc atccacctga cgaaggagga gctgaagctg aacatccgcc ccttgctcag gctggtctgc aaaaagttct ttggcgagtt cacaggcttt gtggacatgt gtgtgcagca tatcccttct ccaaaggtgg gcgccaagcc caagattgag cacacctaca ccggtggtgt ggactccgac ctcggcgagg ctatgagtga ctgtgaccct gatggccccc tgatgtgcca cactactaag atgtacagca cagatgatgg agtccagttt cacgcctttg gccgggtgct gagtggcacc attcatgctg ggcagcctgt gaaggtactg ggggagaact acaccctgga ggatgaggaa gactcccaga tatgcaccgt gggccgcctt tggatctctg tggccaggta ccacatcgag gtgaaccgtg ttcctgctgg caactgggtt ctgattgaag gtgttgatca accaattgtg aagacagcaa ccataaccga accccgaggc aatgaggagg ctcagatttt ccgacccttg aagttcaata ccacatctgt tatcaagatt gctgtggagc cagtcaaccc ctcagagctg cccaagatgc ttgatggcct gcgcaaggtc aacaagagct atccatccct caccaccaag gtggaggagt ctggcgagca tgtgatcctg ggcactgggg agctctacct ggactgtgtg atgcatgatt tgcggaagat gtactcagag atagacatca aggtggctga cccagttgtc acgttttgtg agacggtggt ggaaacatcc tccctcaagt gctttgctga aacgcctaat aagaagaaca agatcaccat gattgctgag cctcttgaga agggcctggc agaggacata gagaatgagg tggtccagat tacgtggaac aggaagaagc tgggagagtt cttccagacc aagtacgatt gggatctgct ggctgcccgt tccatctggg cttttggccc tgatgcgact ggccccaaca ttctggtgga tgatactctg ccctctgagg tggacaaggc tcttcttggt tcagtgaagg acagcatcgt tcaaggtttc cagtggggaa ccagggaggg ccccctctgt gatgaattga ttcggaatgt caagtttaag atcctggatg cggtggttgc ccaggagccc ctgcaccggg gcgggggcca gatcatcccc acagccagga gagtcgtcta ctctgccttc ctcatggcta ctcctcgtct gatggagcct tactactttg tagaggtcca ggcccctgca gattgcgtct ctgcagttta taccgtcctg gccaggcgca gggggcacgt gactcaggat gcacccatcc caggctcccc tctgtacacc atcaaagctt ttatcccggc catcgactct tttggctttg agactgatct ccggactcac acccagggac aagccttttc tctgtctgtc ttccaccact ggcagattgt gcctggtgat cccctggaca agagcattgt catccgcccc ttggagccac agccagctcc tcacctggcc cgggaattca tgatcaaaac ccgccgtagg aagggcctca gtgaagatgt gagcatcagc aaattcttcg atgatcctat gttgctggaa cttgccaaac aggatgttgt gctcaattac cccatgtga. It is sometimes possible for the material contained within the vial of "EFTUD2, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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