DSC2

GENERAL INFORMATION

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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

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RNA tissue category

HPA:Tissue enhanced (esophagus)
GTEx:Tissue enhanced (cervix, uterine, esophagus, vagina)

Protein evidence

Evidence at protein level

Protein localization

High membranous expression in squamous epithelia, gastrointestinal tract, pancreas, salivary glands, trophoblastic cells and heart muscle.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA011911 , HPA012615
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Esophagus

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Tissue enhanced (esophagus)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (cervix, uterine, esophagus, vagina)

Organ

Expression



GENE INFORMATION

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Gene name

DSC2 (HGNC Symbol)

Synonyms

CDHF2, DSC3

Description

Desmocollin 2 (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is a calcium-dependent glycoprotein that is a member of the desmocollin subfamily of the cadherin superfamily. These desmosomal family members, along with the desmogleins, are found primarily in epithelial cells where they constitute the adhesive proteins of the desmosome cell-cell junction and are required for cell adhesion and desmosome formation. The desmosomal family members are arranged in two clusters on chromosome 18, occupying less than 650 kb combined. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia-11. Alternative splicing results in two transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Chromosome

18

Cytoband

q12.1

Chromosome location (bp)

31058840 - 31102415

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000134755 (version 78.38)

Entrez gene

1824

UniProt

Q02487 (UniProt - Evidence at protein level)

neXtProt

NX_Q02487

Antibodypedia

DSC2 antibodies


PROTEIN BROWSER

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ENST00000251081
 
ENST00000280904
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DSC2-001 ENSP00000280904
ENST00000280904
Q02487
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Show » Show » 901 100 Yes 1
DSC2-002 ENSP00000251081
ENST00000251081
Q02487
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Show » Show » 847 93.8 Yes 1