Protein-coding gene in the species Homo sapiens
| DYM |
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| Identifiers |
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| Aliases | DYM, DMC, SMC, dymeclin |
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| External IDs | OMIM: 607461; MGI: 1918480; HomoloGene: 69237; GeneCards: DYM; OMA:DYM - orthologs |
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| Gene location (Human) |
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 | | Chr. | Chromosome 18 (human)[1] |
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| | Band | 18q21.1 | Start | 49,041,474 bp[1] |
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| End | 49,461,347 bp[1] |
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| Gene location (Mouse) |
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 | | Chr. | Chromosome 18 (mouse)[2] |
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| | Band | 18|18 E3 | Start | 75,151,852 bp[2] |
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| End | 75,420,035 bp[2] |
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| RNA expression pattern |
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| Bgee | | Human | Mouse (ortholog) |
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| Top expressed in | - bone marrow cells
- ganglionic eminence
- body of pancreas
- muscle of thigh
- tibialis anterior muscle
- right testis
- gastrocnemius muscle
- left testis
- Achilles tendon
- gonad
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| | Top expressed in | - spermatocyte
- spermatid
- muscle of thigh
- lumbar spinal ganglion
- gastrocnemius muscle
- ankle
- quadriceps femoris muscle
- tibialis anterior muscle
- triceps brachii muscle
- medial head of gastrocnemius muscle
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| | More reference expression data |
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| BioGPS | |
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| Gene ontology |
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| Molecular function | - enzyme binding
- protein binding
| | Cellular component | - membrane
- cytoplasm
- Golgi apparatus
| | Biological process | - bone development
- Golgi organization
| | Sources:Amigo / QuickGO |
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| Orthologs |
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| Species | Human | Mouse |
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| Entrez | | |
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| Ensembl | | |
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| UniProt | | |
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| RefSeq (mRNA) | NM_017653
NM_001353210
NM_001353211
NM_001353212
NM_001353213
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NM_001353214
NM_001353215
NM_001353216 |
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| RefSeq (protein) | NP_060123
NP_001340139
NP_001340140
NP_001340141
NP_001340142
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NP_001340143
NP_001340144
NP_001340145
NP_001361357
NP_001361358
NP_001361359
NP_001361360
NP_001361361
NP_001361362
NP_001361363
NP_001361364
NP_001361365
NP_001361366
NP_001361367
NP_001361368
NP_001361369
NP_001361370
NP_001361371
NP_001361372
NP_001361373 |
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| Location (UCSC) | Chr 18: 49.04 – 49.46 Mb | Chr 18: 75.15 – 75.42 Mb |
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| PubMed search | [3] | [4] |
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| Wikidata |
| View/Edit Human | View/Edit Mouse |
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Dymeclin is a protein that in humans is encoded by the DYM gene.[5]
This gene encodes a protein which is necessary for normal skeletal development and brain function and has been first described and named in 2003.[6] Mutations in this gene are associated with two types of recessive osteochondrodysplasias, Dyggve-Melchior-Clausen (DMC) syndrome, which involves both skeletal defects and postnatal microcephaly with intellectual deficiency, and Smith-McCort (SMC) dysplasia, which involves skeletal defects only.[5]
References
- ^ a b c GRCh38: Ensembl release 89: ENSG00000141627 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000035765 – 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.
- ^ a b "Entrez Gene: DYM dymeclin".
- ^ El Ghouzzi, V. (2003-02-01). "Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome". Human Molecular Genetics. 12 (3). Oxford University Press (OUP): 357–364. doi:10.1093/hmg/ddg029. ISSN 1460-2083. PMID 12554689.
Further reading
- Maruyama K, Sugano S (1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
- Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, et al. (1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
- Ehtesham N, Cantor RM, King LM, et al. (2002). "Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12". Am. J. Hum. Genet. 71 (4): 947–51. doi:10.1086/342669. PMC 378548. PMID 12161821.
- Thauvin-Robinet C, El Ghouzzi V, Chemaitilly W, et al. (2002). "Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1". J. Med. Genet. 39 (10): 714–7. doi:10.1136/jmg.39.10.714. PMC 1734996. PMID 12362026.
- 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.
- Cohn DH, Ehtesham N, Krakow D, et al. (2003). "Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene". Am. J. Hum. Genet. 72 (2): 419–28. doi:10.1086/346176. PMC 420018. PMID 12491225.
- El Ghouzzi V, Dagoneau N, Kinning E, et al. (2003). "Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome". Hum. Mol. Genet. 12 (3): 357–64. doi:10.1093/hmg/ddg029. PMID 12554689.
- 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.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Clark TA, Schweitzer AC, Chen TX, et al. (2007). "Discovery of tissue-specific exons using comprehensive human exon microarrays". Genome Biol. 8 (4): R64. doi:10.1186/gb-2007-8-4-r64. PMC 1896007. PMID 17456239.
