DMWD (gene)

DMWD
Identifiers
Aliases	DMWD , D19S593E, DMR-N9, DMRN9, gene59, dystrophia myotonica, WD repeat containing, DM1 locus, WD repeat containing
External IDs	OMIM: 609857 MGI: 94907 HomoloGene: 22559 GeneCards: DMWD
Gene location (Human)
Chr.	Chromosome 19 (human)
End	45,792,845 bp
Gene location (Mouse)
Chr.	Chromosome 7 (mouse)
End	18,816,701 bp
RNA expression pattern
	Top expressed in
	popliteal artery; ; right coronary artery; ; gastrocnemius muscle; ; gastric mucosa; ; ascending aorta; ; left coronary artery; ; left ventricle; ; left uterine tube; ; cingulate gyrus; ; prefrontal cortex;
	Top expressed in
	subiculum; ; superior frontal gyrus; ; nucleus accumbens; ; retinal pigment epithelium; ; prefrontal cortex; ; foot; ; habenula; ; dorsal tegmental nucleus; ; olfactory tubercle; ; otolith organ;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	molecular function ;
Cellular component	nucleus ; dendrite ; cell projection ; perikaryon ; cellular component ;
Biological process	protein deubiquitination ;
	Sources:Amigo / QuickGO
Orthologs
	1762
	13401
	ENSG00000185800
	ENSMUSG00000030410
	Q09019
	Q08274
	NM_004943
	NM_010058 ; NM_001374607
	NP_004934
	NP_034188 ; NP_001361536
	Wikidata
View/Edit Human	View/Edit Mouse

Last updated September 30, 2022

Dystrophia myotonica WD repeat-containing protein is a protein that in humans is encoded by the DMWD gene.^[5]^[6]

Related Research Articles

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Myotonic dystrophy (DM) is a type of muscular dystrophy, a group of genetic disorders that cause progressive muscle loss and weakness. In DM, muscles are often unable to relax after contraction. Other manifestations may include cataracts, intellectual disability and heart conduction problems. In men, there may be early balding and an inability to have children. While myotonic dystrophy can occur at any age, onset is typically in the 20s and 30s.

Myotonin-protein kinase (MT-PK) also known as myotonic dystrophy protein kinase (MDPK) or dystrophia myotonica protein kinase (DMPK) is an enzyme that in humans is encoded by the DMPK gene.

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References

1 2 3 GRCh38: Ensembl release 89: ENSG00000185800 - Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000030410 - 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.
↑ Jansen G, Mahadevan M, Amemiya C, Wormskamp N, Segers B, Hendriks W, O'Hoy K, Baird S, Sabourin L, Lennon G, et al. (Jun 1993). "Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs". Nat Genet. 1 (4): 261–6. doi:10.1038/ng0792-261. PMID 1302022. S2CID 26072532.
↑ "Entrez Gene: DMWD dystrophia myotonica, WD repeat containing".

Groenen P, Wieringa B (1999). "Expanding complexity in myotonic dystrophy". BioEssays. 20 (11): 901–12. doi:10.1002/(SICI)1521-1878(199811)20:11<901::AID-BIES5>3.0.CO;2-0. PMID 9872056. S2CID 24160357.
Wansink DG, Wieringa B (2004). "Transgenic mouse models for myotonic dystrophy type 1 (DM1)". Cytogenet. Genome Res. 100 (1–4): 230–42. doi:10.1159/000072859. PMID 14526185. S2CID 9981696.
Jansen G, Bächner D, Coerwinkel M, et al. (1995). "Structural organization and developmental expression pattern of the mouse WD-repeat gene DMR-N9 immediately upstream of the myotonic dystrophy locus". Hum. Mol. Genet. 4 (5): 843–52. doi:10.1093/hmg/4.5.843. PMID 7633444.
Shaw DJ, McCurrach M, Rundle SA, et al. (1994). "Genomic organization and transcriptional units at the myotonic dystrophy locus". Genomics. 18 (3): 673–9. doi:10.1016/S0888-7543(05)80372-6. PMID 7905855.
Mahadevan MS, Amemiya C, Jansen G, et al. (1993). "Structure and genomic sequence of the myotonic dystrophy (DM kinase) gene". Hum. Mol. Genet. 2 (3): 299–304. doi:10.1093/hmg/2.3.299. PMID 8499920.
Bonaldo MF, Lennon G, Soares MB (1997). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Res. 6 (9): 791–806. doi: 10.1101/gr.6.9.791 . PMID 8889548.
Alwazzan M, Newman E, Hamshere MG, Brook JD (1999). "Myotonic dystrophy is associated with a reduced level of RNA from the DMWD allele adjacent to the expanded repeat". Hum. Mol. Genet. 8 (8): 1491–7. doi: 10.1093/hmg/8.8.1491 . PMID 10400997.
Eriksson M, Hedberg B, Carey N, Ansved T (2001). "Decreased DMPK transcript levels in myotonic dystrophy 1 type IIA muscle fibers". Biochem. Biophys. Res. Commun. 286 (5): 1177–82. doi:10.1006/bbrc.2001.5516. PMID 11527424.
Frisch R, Singleton KR, Moses PA, et al. (2001). "Effect of triplet repeat expansion on chromatin structure and expression of DMPK and neighboring genes, SIX5 and DMWD, in myotonic dystrophy". Mol. Genet. Metab. 74 (1–2): 281–91. doi:10.1006/mgme.2001.3229. PMID 11592825.
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. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC 139241 . PMID 12477932.
Grimwood J, Gordon LA, Olsen A, et al. (2004). "The DNA sequence and biology of human chromosome 19". Nature. 428 (6982): 529–35. Bibcode:2004Natur.428..529G. doi: 10.1038/nature02399 . PMID 15057824.
Beausoleil SA, Jedrychowski M, Schwartz D, et al. (2004). "Large-scale characterization of HeLa cell nuclear phosphoproteins". Proc. Natl. Acad. Sci. U.S.A. 101 (33): 12130–5. Bibcode:2004PNAS..10112130B. doi: 10.1073/pnas.0404720101 . PMC 514446 . PMID 15302935.

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[refGRCh38Ensembl-1] 1 2 3 GRCh38: Ensembl release 89: ENSG00000185800 - Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000030410 - 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.

[pmid1302022-5] Jansen G, Mahadevan M, Amemiya C, Wormskamp N, Segers B, Hendriks W, O'Hoy K, Baird S, Sabourin L, Lennon G, et al. (Jun 1993). "Characterization of the myotonic dystrophy region predicts multiple protein isoform-encoding mRNAs". Nat Genet. 1 (4): 261–6. doi:10.1038/ng0792-261. PMID 1302022. S2CID 26072532.

[entrez-6] "Entrez Gene: DMWD dystrophia myotonica, WD repeat containing".

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DMWD (gene)

Related Research Articles

References

Further reading