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DSC2

GENERAL INFORMATION

Gene name

 DSC2

Gene description

 Desmocollin 2

Protein class

 Disease related genes
Plasma proteins
Predicted membrane proteins

Predicted localization

 Membrane

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Tissue enhanced (esophagus)
GTEx:Tissue enhanced (esophagus, vagina)
FANTOM5:Expressed in all

Protein evidence

 Evidence at protein level

Protein expression

 Distinct membranous expression in squamous epithelia, gastrointestinal mucosa, pancreas, salivary glands, cytotrophoblasts and heart muscle.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with RNA expression data.

Reliability score

 Supported based on 2 antibodies.
HPA011911 , HPA012615
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RNA AND PROTEIN EXPRESSION SUMMARY
RNA expression (TPM) Protein expression (score)
Brain
Caudate
N/A
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Bronchus
N/A
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Vagina
N/A
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Esophagus

Colon

Kidney

Testis

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (esophagus)
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (esophagus, vagina)
FANTOM5 dataset
Organ
Expression
Alphabetical
RNA tissue category: Expressed in all

GENE INFORMATION

Gene name

 DSC2 (HGNC Symbol)

Synonyms

 CDHF2, DSC3

Description

 Desmocollin 2 (HGNC Symbol)

Entrez gene summary

 This gene encodes a member of the desmocollin protein subfamily. Desmocollins, along with desmogleins, are cadherin-like transmembrane glycoproteins that are major components of the desmosome. Desmosomes are cell-cell junctions that help resist shearing forces and are found in high concentrations in cells subject to mechanical stress. This gene is found in a cluster with other desmocollin family members on chromosome 18. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11, and reduced protein expression has been described in several types of cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]

Chromosome

 18

Cytoband

 q12.1

Chromosome location (bp)

 31058840 - 31102415

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000134755 (version 83.38)

Entrez gene

 1824

UniProt

 Q02487 (UniProt - Evidence at protein level)

neXtProt

 NX_Q02487

Antibodypedia

 DSC2 antibodies

PROTEIN BROWSER
DSC2-001
DSC2-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
DSC2-001
ENSP00000280904
ENST00000280904
Q02487 [Direct mapping]
Desmocollin-2
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Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0005913 [cell-cell adherens junction]
GO:0007155 [cell adhesion]
GO:0007156 [homophilic cell adhesion via plasma membrane adhesion molecules]
GO:0009267 [cellular response to starvation]
GO:0014704 [intercalated disc]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0030057 [desmosome]
GO:0031410 [cytoplasmic vesicle]
GO:0070062 [extracellular exosome]
GO:0086042 [cardiac muscle cell-cardiac muscle cell adhesion]
GO:0086073 [bundle of His cell-Purkinje myocyte adhesion involved in cell communication]
GO:0086083 [cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication]
GO:0086091 [regulation of heart rate by cardiac conduction]
GO:0098911 [regulation of ventricular cardiac muscle cell action potential]
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 901 aa
100 kDa 		Yes 1
DSC2-002
ENSP00000251081
ENST00000251081
Q02487 [Direct mapping]
Desmocollin-2
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Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   1TM proteins predicted by MDM
Plasma proteins
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005515 [protein binding]
GO:0005886 [plasma membrane]
GO:0007155 [cell adhesion]
GO:0007156 [homophilic cell adhesion via plasma membrane adhesion molecules]
GO:0014704 [intercalated disc]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0030057 [desmosome]
GO:0031410 [cytoplasmic vesicle]
GO:0070062 [extracellular exosome]
GO:0086042 [cardiac muscle cell-cardiac muscle cell adhesion]
GO:0086073 [bundle of His cell-Purkinje myocyte adhesion involved in cell communication]
GO:0086083 [cell adhesive protein binding involved in bundle of His cell-Purkinje myocyte communication]
GO:0086091 [regulation of heart rate by cardiac conduction]
GO:0098911 [regulation of ventricular cardiac muscle cell action potential]
Show all
 847 aa
93.8 kDa 		Yes 1

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.