IGHMBP2

From Wikipedia, the free encyclopedia

Immunoglobulin mu binding protein 2

PDB rendering based on 1msz.

Available structures: 1msz

Identifiers

Symbol(s)

IGHMBP2; CATF1; FLJ34220; FLJ41171; HCSA; SMARD1; SMUBP2

External IDs

OMIM: 600502 MGI: 99954 HomoloGene: 1642

Gene ontology
Molecular Function:	• nucleotide binding • DNA binding • DNA helicase activity • single-stranded DNA binding • protein binding • ATP binding • zinc ion binding • hydrolase activity • nucleoside-triphosphatase activity • metal ion binding
Cellular Component:	• nucleus • cytoplasm • axon • cell soma
Biological Process:	• DNA replication • DNA repair • DNA recombination • transcription • regulation of transcription, DNA-dependent

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_002180 (mRNA)
NP_002171 (protein)

NM_009212 (mRNA)
NP_033238 (protein)

Location

Chr 11: 68.43 - 68.46 Mb

Chr 19: 3.26 - 3.28 Mb

Pubmed search

[1]

[2]

Immunoglobulin mu binding protein 2, also known as IGHMBP2, is a human gene.^[1]

[edit] References

^ Entrez Gene: IGHMBP2 immunoglobulin mu binding protein 2.

[edit] 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.