IGHMBP2

Immunoglobulin mu binding protein 2
PDB rendering based on 1msz.
Available structures PDB Ortholog search: PDBe, RCSB List of PDB id codes 1MSZ​, 2LRR​, 4B3F​, 4B3G​
Identifiers
Symbols	IGHMBP2 ; CATF1; CMT2S; HCSA; HMN6; SMARD1; SMUBP2; ZFAND7
External IDs	OMIM: 600502 MGI: 99954 HomoloGene: 1642 GeneCards: IGHMBP2 Gene
EC number	3.6.4.12, 3.6.4.13
Gene ontology Molecular function • tRNA binding • DNA binding • DNA helicase activity • single-stranded DNA binding • RNA binding • protein binding • ATP binding • DNA-dependent ATPase activity • transcription factor binding • RNA-dependent ATPase activity • zinc ion binding • ATP-dependent 5'-3' RNA helicase activity • ribosome binding • ATP-dependent 5'-3' DNA helicase activity Cellular component • nucleus • cytoplasm • membrane • axon • growth cone • ribonucleoprotein complex • SMN complex • neuronal cell body Biological process • DNA replication • DNA repair • DNA recombination • transcription, DNA-templated • regulation of transcription, DNA-templated • translation • spinal cord motor neuron differentiation • DNA duplex unwinding • protein homooligomerization Sources: Amigo / QuickGO
RNA expression pattern
More reference expression data
Orthologs
Species	Human	Mouse
Entrez	3508	20589
Ensembl	ENSG00000132740	ENSMUSG00000024831
UniProt	P38935	D3Z5P5
RefSeq (mRNA)	NM_002180	NM_009212
RefSeq (protein)	NP_002171	NP_033238
Location (UCSC)	Chr 11: 68.9 – 68.94 Mb	Chr 19: 3.26 – 3.28 Mb
PubMed search

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.^[1][2]

Mutations in the IGHMBP2 gene cause distal spinal muscular atrophy type 1 (distal hereditary motor neuropathy type VI).^[3]

References

1. 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.
2. "Entrez Gene: IGHMBP2 immunoglobulin mu binding protein 2".
3. 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.