IGHMBP2

IGHMBP2
Available structures
PDB	Ortholog search: PDBe RCSB
List of PDB id codes
	1MSZ, 2LRR, 4B3F, 4B3G
Identifiers
Aliases	IGHMBP2, CATF1, HCSA, HMN6, SMARD1, SMUBP2, ZFAND7, CMT2S, immunoglobulin mu binding protein 2, immunoglobulin mu DNA binding protein 2
External IDs	OMIM: 600502 MGI: 99954 HomoloGene: 1642 GeneCards: IGHMBP2
Gene location (Human)
Chr.	Chromosome 11 (human)[1]
End	68,940,602 bp[1]
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)[2]
End	3,333,017 bp[2]
RNA expression pattern
	Top expressed in
	gastric mucosa; ; popliteal artery; ; ascending aorta; ; sural nerve; ; right coronary artery; ; left coronary artery; ; canal of the cervix; ; ganglionic eminence; ; left uterine tube; ; transverse colon;
	Top expressed in
	saccule; ; urethra; ; male urethra; ; spermatocyte; ; morula; ; neural tube; ; superior frontal gyrus; ; primitive streak; ; secondary oocyte; ; lip;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	DNA binding; nucleotide binding; ATP-dependent activity, acting on DNA; 5'-3' DNA helicase activity; helicase activity; 5'-3' RNA helicase activity; ribosome binding; tRNA binding; zinc ion binding; transcription factor binding; metal ion binding; single-stranded DNA binding; DNA helicase activity; protein binding; RNA binding; nucleic acid binding; hydrolase activity; ATP binding; ATP-dependent activity, acting on RNA;
Cellular component	cytoplasm; cell projection; membrane; growth cone; SMN complex; axon; nucleus; ribonucleoprotein complex;
Biological process	DNA recombination; regulation of transcription, DNA-templated; transcription, DNA-templated; DNA replication; protein homooligomerization; DNA repair; DNA duplex unwinding; protein biosynthesis;
	Sources:Amigo / QuickGO
Orthologs
	3508
	20589
	ENSG00000132740
	ENSMUSG00000024831
	P38935
	P40694
	NM_002180
	NM_009212
	NP_002171
	n/a
	Wikidata
View/Edit Human	View/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.[5][6]

Mutations in the IGHMBP2 gene cause distal spinal muscular atrophy type 1 (distal hereditary motor neuropathy type VI).[7]

References

GRCh38: Ensembl release 89: ENSG00000132740 - Ensembl, May 2017
GRCm38: Ensembl release 89: ENSMUSG00000024831 - Ensembl, May 2017
"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
Fukita Y, Mizuta TR, Shirozu M, Ozawa K, Shimizu A, Honjo T (August 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): 17463–70. doi:10.1016/S0021-9258(19)85357-7. PMID 8349627.
"Entrez Gene: IGHMBP2 immunoglobulin mu binding protein 2".
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 JM, Wienker TF, Sendtner M, Rudnik-Schöneborn S, Zerres K, Hübner C (September 2001). "Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1". Nature Genetics. 29 (1): 75–7. doi:10.1038/ng703. PMID 11528396. S2CID 7028396.

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 mu-binding protein 2 gene with immunoglobulin A nephropathy". Journal of Human Genetics. 50 (1): 30–5. doi:10.1007/s10038-004-0214-8. PMID 15599641.
Tachi N, Kikuchi S, Kozuka N, Nogami A (April 2005). "A new mutation of IGHMBP2 gene in spinal muscular atrophy with respiratory distress type 1". Pediatric Neurology. 32 (4): 288–90. 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 (May 2004). "Allelic heterogeneity of SMARD1 at the IGHMBP2 locus". Human Mutation. 23 (5): 525–6. doi:10.1002/humu.9241. PMID 15108294. S2CID 39222622.
Guenther UP, Schuelke M, Bertini E, D'Amico A, Goemans N, Grohmann K, Hübner C, Varon R (September 2004). "Genomic rearrangements at the IGHMBP2 gene locus in two patients with SMARD1". Human Genetics. 115 (4): 319–26. doi:10.1007/s00439-004-1156-0. PMID 15290238. S2CID 24478377.
Shen J, Terry MB, Gammon MD, Gaudet MM, Teitelbaum SL, Eng SM, Sagiv SK, Neugut AI, Santella RM (September 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. S2CID 9625880.

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[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000132740 - Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000024831 - Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid8349627-5] Fukita Y, Mizuta TR, Shirozu M, Ozawa K, Shimizu A, Honjo T (August 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): 17463–70. doi:10.1016/S0021-9258(19)85357-7. PMID 8349627.

[entrez-6] "Entrez Gene: IGHMBP2 immunoglobulin mu binding protein 2".

[7] 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 JM, Wienker TF, Sendtner M, Rudnik-Schöneborn S, Zerres K, Hübner C (September 2001). "Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1". Nature Genetics. 29 (1): 75–7. doi:10.1038/ng703. PMID 11528396. S2CID 7028396.

IGHMBP2

References

Further reading