IGHMBP2

IGHMBP2
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases IGHMBP2, CATF1, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7, CMT2S, immunoglobulin mu binding protein 2
External IDs MGI: 99954 HomoloGene: 1642 GeneCards: IGHMBP2
RNA expression pattern


More reference expression data
Orthologs
Species Human Mouse
Entrez

3508

20589

Ensembl

ENSG00000132740

ENSMUSG00000024831

UniProt

P38935

P40694

RefSeq (mRNA)

NM_002180

NM_009212

RefSeq (protein)

NP_002171.2

n/a

Location (UCSC) Chr 11: 68.9 – 68.94 Mb Chr 19: 3.26 – 3.28 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

DNA-binding protein SMUBP-2, also known as immunoglobulin helicase μ-binding protein 2 (IGHMBP2) and cardiac transcription factor 1 (CATF1) – is a protein that in humans is encoded by the IGHMBP2 gene.[3][4]

Mutations in the IGHMBP2 gene cause distal spinal muscular atrophy type 1 (distal hereditary motor neuropathy type VI).[5]

References

  1. ↑ "Human PubMed Reference:".
  2. ↑ "Mouse PubMed Reference:".
  3. ↑ Fukita, Y.; Mizuta, T. R.; Shirozu, M.; Ozawa, K.; Shimizu, A.; Honjo, T. (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". The Journal of Biological Chemistry. 268 (23): 17463–17470. PMID 8349627.
  4. ↑ "Entrez Gene: IGHMBP2 immunoglobulin mu binding protein 2".
  5. ↑ Grohmann, K.; Schuelke, M.; Diers, A.; Hoffmann, K.; Lucke, B.; Adams, C.; Bertini, E.; Leonhardt-Horti, H.; Muntoni, F.; Ouvrier, R.; Pfeufer, A.; Rossi, R.; Van Maldergem, L.; Wilmshurst, J. M.; Wienker, T. F.; Sendtner, M.; Rudnik-Schöneborn, S.; Zerres, K.; Hübner, C. (2001). "Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1". Nature Genetics. 29 (1): 75–77. doi:10.1038/ng703. PMID 11528396.

Further reading

  • Ohtsubo, S.; Iida, A.; Nitta, K.; Tanaka, T.; Yamada, R.; Ohnishi, Y.; Maeda, S.; Tsunoda, T.; Takei, T.; Obara, W.; Akiyama, F.; Ito, K.; Honda, K.; Uchida, K.; Tsuchiya, K.; Yumura, W.; Ujiie, T.; Nagane, Y.; Miyano, S.; Suzuki, Y.; Narita, I.; Gejyo, F.; Fujioka, T.; Nihei, H.; Nakamura, Y. (2004). "Association of a single-nucleotide polymorphism in the immunoglobulin μ-binding protein 2 gene with immunoglobulin a nephropathy". Journal of Human Genetics. 50 (1): 30–35. 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". Pediatric Neurology. 32 (4): 288–290. doi:10.1016/j.pediatrneurol.2004.11.003. PMID 15797190. 
  • Maystadt, I.; Zarhrate, M.; Landrieu, P.; Boespflug-Tanguy, O.; Sukno, S.; Collignon, P.; Melki, J.; Verellen-Dumoulin, C.; Munnich, A.; Viollet, L. (2004). "Allelic heterogeneity of SMARD1 at the IGHMBP2 locus". Human Mutation. 23 (5): 525–526. doi:10.1002/humu.9241. 
  • Guenther, U. P.; Schuelke, M.; Bertini, E.; d'Amico, A.; Goemans, N.; Grohmann, K.; Hübner, C.; Varon, R. (2004). "Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1". Human Genetics. 115 (4): 319–326. doi:10.1007/s00439-004-1156-0. PMID 15290238. 
  • Shen, J.; Beth Terry, M.; Gammon, M. D.; Gaudet, M. M.; Teitelbaum, S. L.; Eng, S. M.; Sagiv, S. K.; Neugut, A. I.; Santella, R. M. (2006). "IGHMBP2 Thr671Ala polymorphism might be a modifier for the effects of cigarette smoking and PAH–DNA adducts to breast cancer risk". Breast Cancer Research and Treatment. 99 (1): 1–7. doi:10.1007/s10549-006-9174-3. PMID 16752224. 
This article is issued from Wikipedia - version of the 5/20/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.