Epigenetics & Nuclear Signaling Antibodies 4
Anti-EFTUD2 Antibody (CAB7040)
- SKU:
- CAB7040
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Reactivity:
- Rat
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Epigenetics and Nuclear Signaling
Description
Antibody Name: | Anti-EFTUD2 Antibody |
Antibody SKU: | CAB7040 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB IHC IF IP |
Reactivity: | Human, Mouse, Rat |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-205 of human EFTUD2 (NP_004238.3). |
Application: | WB IHC IF IP |
Recommended Dilution: | WB 1:500 - 1:2000 IHC 1:50 - 1:200 IF 1:50 - 1:100 IP 1:20 - 1:50 |
Reactivity: | Human, Mouse, Rat |
Positive Samples: | Jurkat, HepG2, HeLa, Mouse testis, Mouse brain, Mouse spleen, Mouse thymus, Mouse lung |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-205 of human EFTUD2 (NP_004238.3). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | MDTD LYDE FGNY IGPE LDSD EDDD ELGR ETKD LDEM DDDD DDDD VGDH DDDH PGME VVLH EDKK YYPT AEEV YGPE VETI VQEE DTQP LTEP IIKP VKTK KFTL MEQT LPVT VYEM DFLA DLMD NSEL IRNV TLCG HLHH GKTC FVDC LIEQ THPE IRKR YDQD LCYT DILF TEQE RGVG IKST PVTV VLPD TKGK SYLF NIMD T |
Gene ID: | 9343 |
Uniprot: | Q15029 |
Cellular Location: | Nucleus |
Calculated MW: | 105kDa/108kDa/109kDa |
Observed MW: | 120kDa |
Synonyms: | EFTUD2, MFDGA, MFDM, SNRNP116, Snrp116, Snu114, U5-116KD |
Background: | 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. |
UniProt Protein Function: | 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. |
UniProt Protein Details: | Protein type:RNA-binding; Spliceosome; RNA splicing Chromosomal Location of Human Ortholog: 17q21.31 Cellular Component: nucleoplasm; spliceosome; Cajal body; 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 |
NCBI Summary: | 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 Code: | Q15029 |
NCBI GenInfo Identifier: | 18202501 |
NCBI Gene ID: | 9343 |
NCBI Accession: | Q15029.1 |
UniProt Secondary Accession: | Q15029,Q9BUR0, B4DK30, B4DMC0, D3DX58, K7EJ81, |
UniProt Related Accession: | Q15029 |
Molecular Weight: | 972 |
NCBI Full Name: | 116 kDa U5 small nuclear ribonucleoprotein component |
NCBI 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; 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 |
Protein Family: | 110 kDa U5 small nuclear ribonucleoprotein |
UniProt Gene Name: | EFTUD2 |
UniProt Entry Name: | U5S1_HUMAN |
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