DSC2 (desmocollin 2)

2007-02-01 Affiliation

Identity

HGNC

DSC2

LOCATION

18q12.1

LOCUSID

1824

ALIAS

ARVD11,CDHF2,DG2,DGII/III,DSC3

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: 1824
MIM: 125645
HGNC: 3036
Ensembl: ENSG00000134755

Variants:

dbSNP: 1824
ClinVar: 1824
TCGA: ENSG00000134755
COSMIC: DSC2

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000134755	ENST00000251081	Q02487
ENSG00000134755	ENST00000280904	Q02487
ENSG00000134755	ENST00000648081	A0A3B3ISU0

Expression (GTEx)

100

150

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

Pathways

Pathway	Source	External ID
Arrhythmogenic right ventricular cardiomyopathy (ARVC)	KEGG	ko05412
Arrhythmogenic right ventricular cardiomyopathy (ARVC)	KEGG	hsa05412
Developmental Biology	REACTOME	R-HSA-1266738
Keratinization	REACTOME	R-HSA-6805567
Formation of the cornified envelope	REACTOME	R-HSA-6809371

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PMIDs
PA134871907	TMEM43	Gene	DataAnnotation	associated
PA27502	DSG2	Gene	DataAnnotation	associated
PA27505	DSP	Gene	DataAnnotation	associated
PA33357	PKP2	Gene	DataAnnotation	associated
PA446847	Arrhythmogenic Right Ventricular Dysplasia	Disease	DataAnnotation, Literature, MultilinkAnnotation	associated	23788249

References

Pubmed ID	Year	Title	Citations
20031617	2009	Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.	61
17186466	2006	Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.	60
22184201	2011	Desmosomal cadherins utilize distinct kinesins for assembly into desmosomes.	37
20031616	2009	Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.	33
20031616	2009	Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study.	33
24166502	2014	Loss of the desmosomal cadherin desmoglein-2 suppresses colon cancer cell proliferation through EGFR signaling.	32
21325624	2011	Loss of desmocollin-2 confers a tumorigenic phenotype to colonic epithelial cells through activation of Akt/β-catenin signaling.	25
17088906	2006	Desmocollin switching in colorectal cancer.	24
20525856	2010	Lower than expected desmosomal gene mutation prevalence in endurance athletes with complex ventricular arrhythmias of right ventricular origin.	23
20864495	2010	Wide spectrum of desmosomal mutations in Danish patients with arrhythmogenic right ventricular cardiomyopathy.	23

Citation

Dessen P

DSC2 (desmocollin 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46039/dsc2