DYM (dymeclin)

2014-11-01  

Identity

HGNC
LOCATION
18q21.1
LOCUSID
ALIAS
DMC,SMC
FUSION GENES

Other Information

Locus ID:

NCBI: 54808
MIM: 607461
HGNC: 21317
Ensembl: ENSG00000141627

Variants:

dbSNP: 54808
ClinVar: 54808
TCGA: ENSG00000141627
COSMIC: DYM

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000141627ENST00000269445Q7RTS9
ENSG00000141627ENST00000418472E9PG80
ENSG00000141627ENST00000442713Q7RTS9
ENSG00000141627ENST00000577734J3QRD8
ENSG00000141627ENST00000578396J3QQT7
ENSG00000141627ENST00000579058J3KTF2
ENSG00000141627ENST00000581738J3QRF2
ENSG00000141627ENST00000582399J3KSU8
ENSG00000141627ENST00000583225J3QSE7
ENSG00000141627ENST00000583280J3KSF9
ENSG00000141627ENST00000583353J3QR81
ENSG00000141627ENST00000584983J3KRG4

Expression (GTEx)

0
5
10
15
20
25
30
35

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
205466122010The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.19
125546892003Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.13
189969212009The gene responsible for Dyggve-Melchior-Clausen syndrome encodes a novel peripheral membrane protein dynamically associated with the Golgi apparatus.10
124912252003Mental retardation and abnormal skeletal development (Dyggve-Melchior-Clausen dysplasia) due to mutations in a novel, evolutionarily conserved gene.9
256524082015Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.4
243002882014A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome.3
212801492011Dymeclin, the gene underlying Dyggve-Melchior-Clausen syndrome, encodes a protein integral to extracellular matrix and golgi organization and is associated with protein secretion pathways critical in bone development.2
205553402010An association study between the dymeclin gene and schizophrenia in the Japanese population.1
205553402010An association study between the dymeclin gene and schizophrenia in the Japanese population.1

Citation

Dessen P

DYM (dymeclin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62687/dym-(dymeclin)