DSC3

GENERAL INFORMATION

? »

Gene name

DSC3

Gene description

Desmocollin 3

Protein class

Disease related genes
Plasma proteins
Predicted membrane proteins

Predicted localization

Membrane

Number of transcripts

3
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

? »

RNA tissue category

HPA:Group enriched (esophagus, skin)
GTEx:Tissue enhanced (esophagus, skin)

Protein evidence

Evidence at protein level

Protein localization

Selective cellmembranous expression in squamous epithelia and cytoplasmic expression in placenta.

ANTIBODY RELIABILITY

? »

Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 2 antibodies.
HPA049265 , CAB037328
SHOW MORE

RNA AND PROTEIN EXPRESSION SUMMARY

? »
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

Oral mucosa

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

? »

Organ

Expression



RNA EXPRESSION OVERVIEW

? »
HPA dataset
RNA tissue category:  Group enriched (esophagus, skin)

Organ

Expression

GTEx dataset
RNA tissue category:  Tissue enhanced (esophagus, skin)

Organ

Expression



GENE INFORMATION

? »

Gene name

DSC3 (HGNC Symbol)

Synonyms

CDHF3, DSC, DSC1, DSC2, DSC4

Description

Desmocollin 3 (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 a cause of hypotrichosis and recurrent skin vesicles disorder. The protein can act as an autoantigen in pemphigus diseases, and it is also considered to be a biomarker for some cancers. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Apr 2014]

Chromosome

18

Cytoband

q12.1

Chromosome location (bp)

30990008 - 31042815

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000134762 (version 78.38)

Entrez gene

1825

UniProt

Q14574 (UniProt - Evidence at protein level)

neXtProt

NX_Q14574

Antibodypedia

DSC3 antibodies


PROTEIN BROWSER

? »
 
 
 
ENST00000360428
 
ENST00000434452
 
ENST00000584980
 
 
 
 


PROTEIN INFORMATION

? »

Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DSC3-001 ENSP00000353608
ENST00000360428
Q14574
Show all »
Show » Show » 896 100 Yes 1
DSC3-002 ENSP00000464283
ENST00000584980
Show » 214 23 No 1
DSC3-201 ENSP00000392068
ENST00000434452
Q14574
Show all »
Show » Show » 839 93.5 Yes 1