IGHMBP2
Immunoglobulin mu binding protein 2 | |||||||||||||
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PDB rendering based on 1msz. | |||||||||||||
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Identifiers | |||||||||||||
Symbols | IGHMBP2 ; CATF1; FLJ34220; FLJ41171; HCSA; SMARD1; SMUBP2 | ||||||||||||
External IDs | Template:OMIM5 Template:MGI HomoloGene: 1642 | ||||||||||||
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RNA expression pattern | |||||||||||||
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Species | Human | Mouse | |||||||||||
Entrez | n/a | n/a | |||||||||||
Ensembl | n/a | n/a | |||||||||||
UniProt | n/a | n/a | |||||||||||
RefSeq (mRNA) | n/a | n/a | |||||||||||
RefSeq (protein) | n/a | n/a | |||||||||||
Location (UCSC) | n/a | n/a | |||||||||||
PubMed search | n/a | n/a |
Immunoglobulin mu binding protein 2, also known as IGHMBP2, is a human gene.[1]
References
Further reading
- Giannini A, Pinto AM, Rossetti G; et al. (2007). "Respiratory failure in infants due to spinal muscular atrophy with respiratory distress type 1". Intensive care medicine. 32 (11): 1851–5. doi:10.1007/s00134-006-0346-8. PMID 16964485.
- Kerr D, Khalili K (1991). "A recombinant cDNA derived from human brain encodes a DNA binding protein that stimulates transcription of the human neurotropic virus JCV". J. Biol. Chem. 266 (24): 15876–81. PMID 1714899.
- Fukita Y, Mizuta TR, Shirozu M; et al. (1993). "The human S mu bp-2, a DNA-binding protein specific to the single-stranded guanine-rich sequence related to the immunoglobulin mu chain switch region". J. Biol. Chem. 268 (23): 17463–70. PMID 8349627.
- Mizuta TR, Fukita Y, Miyoshi T; et al. (1993). "Isolation of cDNA encoding a binding protein specific to 5'-phosphorylated single-stranded DNA with G-rich sequences". Nucleic Acids Res. 21 (8): 1761–6. PMID 8493094.
- Gulley ML, Zhang Q, Gascoyne RD; et al. (1998). "Translocations of 11q13 in mantle cell lymphoma fail to disrupt the S mu bp-2 gene". Hematopathology and molecular hematology. 11 (1): 1–11. PMID 9439975.
- Mohan WS, Chen ZQ, Zhang X; et al. (1998). "Human S mu binding protein-2 binds to the drug response element and transactivates the human apoA-I promoter: role of gemfibrozil". J. Lipid Res. 39 (2): 255–67. PMID 9507986.
- Zhang Q, Wang YC, Montalvo EA (1999). "Smubp-2 represses the Epstein-Barr virus lytic switch promoter". Virology. 255 (1): 160–70. doi:10.1006/viro.1998.9588. PMID 10049831.
- Biswas EE, Nagele RG, Biswas S (2001). "A novel human hexameric DNA helicase: expression, purification and characterization". Nucleic Acids Res. 29 (8): 1733–40. PMID 11292846.
- Grohmann K, Schuelke M, Diers A; et al. (2001). "Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1". Nat. Genet. 29 (1): 75–7. doi:10.1038/ng703. PMID 11528396.
- Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.
- Liepinsh E, Leonchiks A, Sharipo A; et al. (2003). "Solution structure of the R3H domain from human Smubp-2". J. Mol. Biol. 326 (1): 217–23. PMID 12547203.
- Grohmann K, Varon R, Stolz P; et al. (2004). "Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)". Ann. Neurol. 54 (6): 719–24. doi:10.1002/ana.10755. PMID 14681881.
- Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Chen YZ, Bennett CL, Huynh HM; et al. (2004). "DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)". Am. J. Hum. Genet. 74 (6): 1128–35. doi:10.1086/421054. PMID 15106121.
- Lehner B, Sanderson CM (2004). "A protein interaction framework for human mRNA degradation". Genome Res. 14 (7): 1315–23. doi:10.1101/gr.2122004. PMID 15231747.
- Guenther UP, Schuelke M, Bertini E; et al. (2005). "Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1". Hum. Genet. 115 (4): 319–26. doi:10.1007/s00439-004-1156-0. PMID 15290238.
- Ohtsubo S, Iida A, Nitta K; et al. (2005). "Association of a single-nucleotide polymorphism in the immunoglobulin mu-binding protein 2 gene with immunoglobulin A nephropathy". J. Hum. Genet. 50 (1): 30–5. doi:10.1007/s10038-004-0214-8. PMID 15599641.
- Tachi N, Kikuchi S, Kozuka N, Nogami A (2005). "A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1". Pediatr. Neurol. 32 (4): 288–90. doi:10.1016/j.pediatrneurol.2004.11.003. PMID 15797190.
- Shen J, Beth Terry M, Gammon MD; et al. (2007). "IGHMBP2 Thr671Ala polymorphism might be a modifier for the effects of cigarette smoking and PAH-DNA adducts to breast cancer risk". Breast Cancer Res. Treat. 99 (1): 1–7. doi:10.1007/s10549-006-9174-3. PMID 16752224.
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