DYM (dymeclin)

2014-11-01 Affiliation

Identity

HGNC

DYM

LOCATION

18q21.1

LOCUSID

54808

ALIAS

DMC,SMC

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000141627	ENST00000269445	Q7RTS9
ENSG00000141627	ENST00000418472	E9PG80
ENSG00000141627	ENST00000442713	Q7RTS9
ENSG00000141627	ENST00000577734	J3QRD8
ENSG00000141627	ENST00000578396	J3QQT7
ENSG00000141627	ENST00000579058	J3KTF2
ENSG00000141627	ENST00000581738	J3QRF2
ENSG00000141627	ENST00000582399	J3KSU8
ENSG00000141627	ENST00000583225	J3QSE7
ENSG00000141627	ENST00000583280	J3KSF9
ENSG00000141627	ENST00000583353	J3QR81
ENSG00000141627	ENST00000584983	J3KRG4

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
32886330	2020	A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.	3
32886330	2020	A homozygous nonsense variant in DYM underlies Dyggve-Melchior-Clausen syndrome associated with ectodermal features.	3
25652408	2015	Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.	17
25652408	2015	Dymeclin deficiency causes postnatal microcephaly, hypomyelination and reticulum-to-Golgi trafficking defects in mice and humans.	17
24300288	2014	A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome.	5
24300288	2014	A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve-Melchior-Clausen syndrome.	5
20865280	2011	Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.	2
21280149	2011	Dymeclin, 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.	14
20865280	2011	Dyggve-Melchior-Clausen syndrome: novel splice mutation with atlanto-axial subluxation.	2
21280149	2011	Dymeclin, 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.	14
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78
20546612	2010	The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.	28
20555340	2010	An association study between the dymeclin gene and schizophrenia in the Japanese population.	1
20555340	2010	An association study between the dymeclin gene and schizophrenia in the Japanese population.	1
20379614	2010	Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.	78

Citation

Dessen P

DYM (dymeclin)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/62687/js/lib/gene-explorer/favicon/manifest.json