DYM: Difference between revisions

DYM
Identifiers
Aliases	DYM, DMC, SMC, dymeclin
External IDs	OMIM: 607461; MGI: 1918480; HomoloGene: 69237; GeneCards: DYM; OMA:DYM - orthologs
Gene location (Human)
Chr.	Chromosome 18 (human)
End	49,461,347 bp
Gene location (Mouse)
Chr.	Chromosome 18 (mouse)
End	75,420,035 bp
RNA expression pattern
	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;
	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;
	More reference expression data
	n/a
Gene ontology
Molecular function	enzyme binding; protein binding;
Cellular component	membrane; cytoplasm; Golgi apparatus;
Biological process	bone development; Golgi organization;
	Sources:Amigo / QuickGO
Orthologs
	54808
	69190
	ENSG00000141627
	ENSMUSG00000035765
	Q7RTS9
	Q8CHY3
NM_017653; NM_001353210; NM_001353211; NM_001353212; NM_001353213;
	NM_001353214; NM_001353215; NM_001353216
	NM_027727
NP_060123; NP_001340139; NP_001340140; NP_001340141; NP_001340142;
	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
	NP_082003
	Wikidata
View/Edit Human	View/Edit Mouse

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Latest revision as of 17:40, 23 January 2024

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.

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.

This article on a gene on human chromosome 18 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000141627 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000035765 – 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.

[entrez-5] "Entrez Gene: DYM dymeclin".

[El_Ghouzzi_2003_pp._357–364-6] 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.

[1]

[2]

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[5]

[6]

@@ Line 1: / Line 1: @@
+{{Short description|Protein-coding gene in the species Homo sapiens}}
-<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
+{{redirect|Dym}}
-{{PBB_Controls
+{{Infobox_gene}}
-| update_page = yes
+'''Dymeclin''' is a [[protein]] that in humans is encoded by the ''DYM'' [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: DYM dymeclin| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54808| accessdate = }}</ref>
-| require_manual_inspection = no
-| update_protein_box = yes
-| update_summary = yes
-| update_citations = yes
-}}
+This gene encodes a protein which is necessary for normal skeletal development and [[Brain|brain function]] and has been first described and named in 2003.<ref name="El Ghouzzi 2003 pp. 357–364">{{cite journal | last=El Ghouzzi | first=V. | title=Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome | journal=Human Molecular Genetics | publisher=Oxford University Press (OUP) | volume=12 | issue=3 | date=2003-02-01 | issn=1460-2083 | doi=10.1093/hmg/ddg029 | pages=357–364 |pmid=12554689}}</ref> 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.<ref name="entrez"/>
-<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
-{{GNF_Protein_box
- | image =
- | image_source =
- | PDB =
- | Name = Dymeclin
- | HGNCid = 21317
- | Symbol = DYM
- | AltSymbols =; DMC; FLJ20071; FLJ90130; SMC
- | OMIM = 607461
- | ECnumber =
- | Homologene = 69237
- | MGIid = 1918480
- | Function =
- | Component = {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
- | Process =
- | Orthologs = {{GNF_Ortholog_box
-    | Hs_EntrezGene = 54808
-    | Hs_Ensembl = ENSG00000141627
-    | Hs_RefseqProtein = NP_060123
-    | Hs_RefseqmRNA = NM_017653
-    | Hs_GenLoc_db =
-    | Hs_GenLoc_chr = 18
-    | Hs_GenLoc_start = 44824172
-    | Hs_GenLoc_end = 45241077
-    | Hs_Uniprot = Q7RTS9
-    | Mm_EntrezGene = 69190
-    | Mm_Ensembl = ENSMUSG00000035765
-    | Mm_RefseqmRNA = NM_027727
-    | Mm_RefseqProtein = NP_082003
-    | Mm_GenLoc_db =
-    | Mm_GenLoc_chr = 18
-    | Mm_GenLoc_start = 75144141
-    | Mm_GenLoc_end = 75412333
-    | Mm_Uniprot = Q3U3F3
-  }}
-}}
-'''Dymeclin''', also known as '''DYM''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: DYM dymeclin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54808| accessdate = }}</ref>
-<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
-{{PBB_Summary
-| section_title =
-| summary_text = This gene encodes a protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation.<ref name="entrez">{{cite web | title = Entrez Gene: DYM dymeclin| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54808| accessdate = }}</ref>
-}}
 ==References==
 {{reflist}}
 ==Further reading==
 {{refbegin | 2}}
+*{{cite journal  | vauthors=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1–2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8  }}
-{{PBB_Further_reading
+*{{cite journal  | vauthors=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library |journal=Gene |volume=200 |issue= 1–2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3  |display-authors=etal}}
-| citations =
-*{{cite journal  | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=  }}
+*{{cite journal  | vauthors=Ehtesham N, Cantor RM, King LM |title=Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12 |journal=Am. J. Hum. Genet. |volume=71 |issue= 4 |pages= 947–51 |year= 2002 |pmid= 12161821 |doi=10.1086/342669  | pmc=378548  |display-authors=etal}}
-*{{cite journal  | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, ''et al.'' |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=  }}
+*{{cite journal  | vauthors=Thauvin-Robinet C, El Ghouzzi V, Chemaitilly W |title=Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1 |journal=J. Med. Genet. |volume=39 |issue= 10 |pages= 714–7 |year= 2002 |pmid= 12362026 |doi=10.1136/jmg.39.10.714  | pmc=1734996  |display-authors=etal}}
-*{{cite journal  | author=Ehtesham N, Cantor RM, King LM, ''et al.'' |title=Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12. |journal=Am. J. Hum. Genet. |volume=71 |issue= 4 |pages= 947–51 |year= 2002 |pmid= 12161821 |doi=  }}
+*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 |bibcode=2002PNAS...9916899M |display-authors=etal|doi-access=free }}
-*{{cite journal  | author=Thauvin-Robinet C, El Ghouzzi V, Chemaitilly W, ''et al.'' |title=Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1. |journal=J. Med. Genet. |volume=39 |issue= 10 |pages= 714–7 |year= 2002 |pmid= 12362026 |doi=  }}
+*{{cite journal  | vauthors=Cohn DH, Ehtesham N, Krakow D |title=Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene |journal=Am. J. Hum. Genet. |volume=72 |issue= 2 |pages= 419–28 |year= 2003 |pmid= 12491225 |doi=10.1086/346176  | pmc=420018  |display-authors=etal}}
-*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
+*{{cite journal  | vauthors=El Ghouzzi V, Dagoneau N, Kinning E |title=Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome |journal=Hum. Mol. Genet. |volume=12 |issue= 3 |pages= 357–64 |year= 2003 |pmid= 12554689 |doi=10.1093/hmg/ddg029  |display-authors=etal|doi-access=free }}
-*{{cite journal  | author=Cohn DH, Ehtesham N, Krakow D, ''et al.'' |title=Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene. |journal=Am. J. Hum. Genet. |volume=72 |issue= 2 |pages= 419–28 |year= 2003 |pmid= 12491225 |doi=  }}
+*{{cite journal  | vauthors=Ota T, Suzuki Y, Nishikawa T |title=Complete sequencing and characterization of 21,243 full-length human cDNAs |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |display-authors=etal|doi-access=free }}
-*{{cite journal  | author=El Ghouzzi V, Dagoneau N, Kinning E, ''et al.'' |title=Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. |journal=Hum. Mol. Genet. |volume=12 |issue= 3 |pages= 357–64 |year= 2003 |pmid= 12554689 |doi=  }}
+*{{cite journal  | vauthors=Gerhard DS, Wagner L, Feingold EA |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC) |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504  | pmc=528928 |display-authors=etal}}
-*{{cite journal  | author=Ota T, Suzuki Y, Nishikawa T, ''et al.'' |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 }}
+*{{cite journal  | vauthors=Clark TA, Schweitzer AC, Chen TX |title=Discovery of tissue-specific exons using comprehensive human exon microarrays |journal=Genome Biol. |volume=8 |issue= 4 |pages= R64 |year= 2007 |pmid= 17456239 |doi= 10.1186/gb-2007-8-4-r64  | pmc=1896007 |display-authors=etal |doi-access=free }}
-*{{cite journal  | author=Gerhard DS, Wagner L, Feingold EA, ''et al.'' |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504 }}
-*{{cite journal  | author=Clark TA, Schweitzer AC, Chen TX, ''et al.'' |title=Discovery of tissue-specific exons using comprehensive human exon microarrays. |journal=Genome Biol. |volume=8 |issue= 4 |pages= R64 |year= 2007 |pmid= 17456239 |doi= 10.1186/gb-2007-8-4-r64 }}
-}}
 {{refend}}
 {{gene-18-stub}}