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DSG4

GENERAL INFORMATION

Gene name

 DSG4

Gene description

 Desmoglein 4

Protein class

 Disease related genes
Predicted membrane proteins

Predicted localization

 Membrane

Number of transcripts

 2
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HUMAN PROTEIN ATLAS INFORMATION

RNA tissue category
HPA:Not detected
GTEx:Tissue enhanced (skin)

Protein evidence

 Evidence at protein level

Protein expression

 Distinct membranous expression in hair follicle cortex and cuticle.

DATA RELIABILITY

Data reliability
description

 Antibody staining consistent with external characterization data and GTEx RNA expression data.

Reliability score

 Supported based on 1 antibody.
HPA059456
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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
Hair
N/A
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Testis

Hair

PROTEIN EXPRESSION OVERVIEW
Organ
Expression
Alphabetical

RNA EXPRESSION OVERVIEW
HPA dataset
Organ
Expression
Alphabetical
RNA tissue category: Not detected
GTEx dataset
Organ
Expression
Alphabetical
RNA tissue category: Tissue enhanced (skin)

GENE INFORMATION

Gene name

 DSG4 (HGNC Symbol)

Synonyms

 CDHF13, LAH

Description

 Desmoglein 4 (HGNC Symbol)

Entrez gene summary

 This gene encodes a member of the desmoglein subgroup of desmosomal cadherins. The encoded protein is a transmembrane component in desmosomes and may play a role in cell-cell adhesion in epithelial cells. Mutations in the gene are associated with localized autosomal recessive hypotrichosis and potentially in other skin disorders. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Chromosome

 18

Cytoband

 q12.1

Chromosome location (bp)

 31376777 - 31414912

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000175065 (version 83.38)

Entrez gene

 147409

UniProt

 Q86SJ6 (UniProt - Evidence at protein level)

neXtProt

 NX_Q86SJ6

Antibodypedia

 DSG4 antibodies

PROTEIN BROWSER
DSG4-001
DSG4-002

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
DSG4-001
ENSP00000311859
ENST00000308128
Q86SJ6 [Direct mapping]
Desmoglein-4
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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
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0005509 [calcium ion binding]
GO:0005886 [plasma membrane]
GO:0007155 [cell adhesion]
GO:0007156 [homophilic cell adhesion via plasma membrane adhesion molecules]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0030057 [desmosome]
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 1040 aa
113.8 kDa 		Yes 1
DSG4-002
ENSP00000352785
ENST00000359747
Q86SJ6 [Direct mapping]
Desmoglein-4
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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
Disease related genes
Protein evidence (Kim et al 2014)
Protein evidence (Ezkurdia et al 2014)
Show all
GO:0001942 [hair follicle development]
GO:0005509 [calcium ion binding]
GO:0005886 [plasma membrane]
GO:0007155 [cell adhesion]
GO:0007156 [homophilic cell adhesion via plasma membrane adhesion molecules]
GO:0016020 [membrane]
GO:0016021 [integral component of membrane]
GO:0016337 [single organismal cell-cell adhesion]
GO:0030057 [desmosome]
GO:0030216 [keratinocyte differentiation]
GO:0030509 [BMP signaling pathway]
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 1059 aa
115.5 kDa 		Yes 1

Contact

The Project

The Human Protein Atlas

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