DSC3 Gene (Protein Coding)

Desmocollin 3

GC18M030990
GIFtS:
43
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 format... See more...

Aliases for DSC3 Gene

Aliases for DSC3 Gene

  • Desmocollin 3 2 3 5
  • CDHF3 2 3 4
  • Cadherin Family Member 3 3 4
  • Desmocollin-3 3 4
  • Desmocollin-4 3 4

External Ids for DSC3 Gene

Previous HGNC Symbols for DSC3 Gene

  • DSC4

Previous GeneCards Identifiers for DSC3 Gene

  • GC18M028593
  • GC18M028389
  • GC18M026823
  • GC18M026825
  • GC18M025425

Summaries for DSC3 Gene

Entrez Gene Summary for DSC3 Gene

  • 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]

GeneCards Summary for DSC3 Gene

DSC3 (Desmocollin 3) is a Protein Coding gene. Diseases associated with DSC3 include Hypotrichosis And Recurrent Skin Vesicles and Subcorneal Pustular Dermatosis. Among its related pathways are Developmental Biology and Keratinization. Gene Ontology (GO) annotations related to this gene include calcium ion binding and gamma-catenin binding. An important paralog of this gene is DSC2.

UniProtKB/Swiss-Prot Summary for DSC3 Gene

  • Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms.

Gene Wiki entry for DSC3 Gene

Additional gene information for DSC3 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DSC3 Gene

Genomics for DSC3 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for DSC3 Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH18J031039 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 263.7 +1.4 1447 4.5 ZBTB10 FEZF1 ZIC2 SIN3A ZNF341 ZNF843 KLF9 YY1 SP2 BCL11B DSC3 ENSG00000263924 DSC2 TRAPPC8 HSALNG0120711 HSALNG0120710
GH18J031202 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 6.8 -163.1 -163095 7.4 BCL11A FEZF1 CEBPA IKZF1 ZEB1 CTCF ZIC2 ZNF610 ZNF639 VEZF1 HSALNG0120721-001 HSALNG0120721-002 DSC2 RNF138 DSC1 DSC3 DSG1 DSG3 DSG2 HSALNG0120722
GH18J031011 Enhancer 0.8 ENCODE 11.1 +31.3 31265 0.2 FEZF1 ZNF513 FOXA2 ZNF639 ZNF843 KLF9 BCL11B JUND FOSL1 PRDM6 RNU6-857P DSC3 DSC2 lnc-DSG1-10 piR-38351-227
GH18J031044 Enhancer 0.6 Ensembl ENCODE 13.6 -3.1 -3069 3.2 RXRA NFIA PRDM1 HSALNG0120712 DSC3 DSC2 HSALNG0120711 HSALNG0120714
GH18J031077 Enhancer 0.5 Ensembl 10.6 -35.3 -35286 1 GABPA SPI1 ZBTB40 GABPB1 IKZF1 ZBTB11 DSC2 DSC3 SNODB518 HSALNG0120716
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DSC3 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DSC3

Top Transcription factor binding sites by QIAGEN in the DSC3 gene promoter:
  • aMEF-2
  • C/EBPbeta
  • Evi-1
  • MEF-2A
  • Nkx2-5
  • Sox9
  • STAT3

Genomic Locations for DSC3 Gene

Latest Assembly
chr18:30,989,365-31,042,815
(GRCh38/hg38)
Size:
53,451 bases
Orientation:
Minus strand

Previous Assembly
chr18:28,569,331-28,622,708
(GRCh37/hg19 by Entrez Gene)
Size:
53,378 bases
Orientation:
Minus strand

chr18:28,569,974-28,622,781
(GRCh37/hg19 by Ensembl)
Size:
52,808 bases
Orientation:
Minus strand

Genomic View for DSC3 Gene

Genes around DSC3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DSC3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DSC3 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for DSC3 Gene

Proteins for DSC3 Gene

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  • Protein details for DSC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14574-DSC3_HUMAN
    Recommended name:
    Desmocollin-3
    Protein Accession:
    Q14574
    Secondary Accessions:
    • A6NN35
    • Q14200
    • Q9HAZ9

    Protein attributes for DSC3 Gene

    Size:
    896 amino acids
    Molecular mass:
    99969 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for DSC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DSC3 Gene

Protein Expression for DSC3 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for DSC3 Gene

  • Glycosylation at Asn166, Asn392, Asn546, and Asn629
  • Ubiquitination at Lys180
  • Modification sites at PhosphoSitePlus

Other Protein References for DSC3 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for DSC3 Gene

Domains & Families for DSC3 Gene

Gene Families for DSC3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted membrane proteins

Protein Domains for DSC3 Gene

InterPro:
Blocks:
  • Cadherin cytoplasmic region
  • Cadherin
  • Desmosomal cadherin signature
  • Desmocollin signature
ProtoNet:

Suggested Antigen Peptide Sequences for DSC3 Gene

GenScript: Design optimal peptide antigens:
  • HT-CP (DSC3_HUMAN)
  • Desmocollin 3 (Q9HAX1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14574

UniProtKB/Swiss-Prot:

DSC3_HUMAN :
  • Calcium may be bound by the cadherin-like repeats.
Domain:
  • Calcium may be bound by the cadherin-like repeats.
  • Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the connections, imparting a strong curvature to the full-length ectodomain.
genes like me logo Genes that share domains with DSC3: view

Function for DSC3 Gene

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  6. Cell Lines for research

Molecular function for DSC3 Gene

UniProtKB/Swiss-Prot Function:
Component of intercellular desmosome junctions. Involved in the interaction of plaque proteins and intermediate filaments mediating cell-cell adhesion. May contribute to epidermal cell positioning (stratification) by mediating differential adhesiveness between cells that express different isoforms.
GENATLAS Biochemistry:
desmocollin 3 (desmoglein related DGII/DGIII,desmosomal glycoprotein, cadherin superfamily of calcium dependent cell-adhesion molecule),expressed in basal/lower spinous layers of epidermis

Phenotypes From GWAS Catalog for DSC3 Gene

Gene Ontology (GO) - Molecular Function for DSC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IBA 21873635
GO:0045295 gamma-catenin binding IBA 21873635
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with DSC3: view
genes like me logo Genes that share phenotypes with DSC3: view

Human Phenotype Ontology for DSC3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for DSC3 Gene

MGI Knock Outs for DSC3:
  • Dsc3 Dsc3<tm1Pko>
  • Dsc3 Dsc3<tm1b(EUCOMM)Wtsi>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DSC3

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for DSC3 Gene

Localization for DSC3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DSC3 Gene

Cell membrane. Single-pass type I membrane protein. Cell junction, desmosome.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DSC3 gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
lysosome 2
mitochondrion 1
peroxisome 1
endosome 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DSC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001533 cornified envelope TAS --
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane TAS --
GO:0005911 cell-cell junction IBA 21873635
genes like me logo Genes that share ontologies with DSC3: view

Pathways & Interactions for DSC3 Gene

PathCards logo

SuperPathways for DSC3 Gene

genes like me logo Genes that share pathways with DSC3: view

Pathways by source for DSC3 Gene

Gene Ontology (GO) - Biological Process for DSC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0007155 cell adhesion TAS 7929347
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0031424 keratinization TAS --
GO:0050821 protein stabilization IDA --
genes like me logo Genes that share ontologies with DSC3: view

No data available for SIGNOR curated interactions for DSC3 Gene

Drugs & Compounds for DSC3 Gene

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(1) Drugs for DSC3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6876

(1) Additional Compounds for DSC3 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with DSC3: view

Transcripts for DSC3 Gene

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mRNA/cDNA for DSC3 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DSC3

Alternative Splicing Database (ASD) splice patterns (SP) for DSC3 Gene

No ASD Table

Relevant External Links for DSC3 Gene

GeneLoc Exon Structure for
DSC3

Expression for DSC3 Gene

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  1. Primer products for research
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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DSC3 Gene

mRNA expression in normal human tissues for DSC3 Gene
mRNA expression by GTEx for DSC3 GenemRNA expression by BioGPS for DSC3 Gene

mRNA differential expression in normal tissues according to GTEx for DSC3 Gene

This gene is overexpressed in Skin - Sun Exposed (Lower leg) (x15.7), Skin - Not Sun Exposed (Suprapubic) (x15.4), Esophagus - Mucosa (x9.4), and Vagina (x4.2).

Protein differential expression in normal tissues from HIPED for DSC3 Gene

This gene is overexpressed in Skin (39.5), Hair follicle (11.9), and Cervix (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for DSC3 Gene



Protein tissue co-expression partners for DSC3 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DSC3

SOURCE GeneReport for Unigene cluster for DSC3 Gene:

Hs.41690

mRNA Expression by UniProt/SwissProt for DSC3 Gene:

Q14574-DSC3_HUMAN
Tissue specificity: Epidermis, buccal mucosa, esophagus and cervix.

Evidence on tissue expression from TISSUES for DSC3 Gene

  • Skin(4.7)
  • Heart(2.3)
  • Muscle(2.2)
  • Blood(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for DSC3 Gene

Germ Layers:
  • ectoderm
Systems:
  • integumentary
Regions:
Head and neck:
  • eye
  • eyelid
  • face
  • forehead
  • head
  • scalp
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with DSC3: view

Primer products for research

Orthologs for DSC3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DSC3 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia DSC3 30 31
  • 99.22 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia DSC3 30 31
  • 86.48 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia DSC3 30 31
  • 84.87 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Dsc3 30 17 31
  • 81.8 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Dsc3 30
  • 80.45 (n)
Oppossum
(Monodelphis domestica)
 Mammalia DSC3 31
  • 65 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 58 (a)
 OneToMany
Chicken
(Gallus gallus)
 Aves -- 31
  • 48 (a)
 OneToMany
Lizard
(Anolis carolinensis)
 Reptilia -- 31
  • 45 (a)
 ManyToMany
-- 31
  • 44 (a)
 ManyToMany
Zebrafish
(Danio rerio)
 Actinopterygii dsc2l 31
  • 34 (a)
 OneToMany
Species where no ortholog for DSC3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for DSC3 Gene

ENSEMBL:
Gene Tree for DSC3 (if available)
TreeFam:
Gene Tree for DSC3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DSC3: view image

Paralogs for DSC3 Gene

Paralogs for DSC3 Gene

(8) SIMAP similar genes for DSC3 Gene using alignment to 3 proteins:

  • DSC3_HUMAN
  • J3QRL9_HUMAN
  • Q9HAX1_HUMAN
genes like me logo Genes that share paralogs with DSC3: view

Variants for DSC3 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DSC3 Gene

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
rs115383401 Benign: not provided 31,022,371(-) C/T
NM_001941.5(DSC3):c.907G>A (p.Val303Ile) 		MISSENSE
rs137852782 Pathogenic: Hypotrichosis and recurrent skin vesicles 31,001,724(-) A/C
NM_001941.5(DSC3):c.2129T>G (p.Leu710Ter) 		NONSENSE
rs142851621 Likely Benign: not provided 30,996,796(-) C/T
NM_001941.5(DSC3):c.2488G>A (p.Gly830Ser) 		MISSENSE
rs276936 Benign: not specified 31,031,173(-) C/.
NM_001941.5(DSC3):c.155-1= 		SPLICE_ACCEPTOR
rs35296997 Benign: not provided. - 31,025,852(-) T/Gp.Lys180Gln
NM_001941.5(DSC3):c.538A>C (p.Lys180Gln) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DSC3 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DSC3 Gene

Variant ID Type Subtype PubMed ID
nsv470414 CNV loss 18288195
nsv833613 CNV gain+loss 17160897

Variation tolerance for DSC3 Gene

Residual Variation Intolerance Score: 83.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.26; 85.07% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DSC3 Gene

Human Gene Mutation Database (HGMD)
DSC3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DSC3

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DSC3 Gene

Disorders for DSC3 Gene

MalaCards: The human disease database

(31) MalaCards diseases for DSC3 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
hypotrichosis and recurrent skin vesicles
  • hereditary hypotrichosis with recurrent skin vesicles
subcorneal pustular dermatosis
  • sneddon-wilkinson disease or syndrome
hypotrichosis
pemphigus
pemphigus vulgaris, familial
  • pemphigus vulgaris
- elite association - COSMIC cancer census association via MalaCards
Search DSC3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

DSC3_HUMAN
  • Hypotrichosis and recurrent skin vesicles (HRSV) [MIM:613102]: A disorder characterized by hypotrichosis and the appearance of recurrent skin vesicle formation. Affected individuals show sparse and fragile hair on scalp, as well as absent eyebrows and eyelashes. Vesicles filled with thin, watery fluid are observed on the scalp and skin of most of the body. Mucosal vesicles are absent. {ECO:0000269 PubMed:19765682}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for DSC3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with DSC3: view

No data available for Genatlas for DSC3 Gene

Publications for DSC3 Gene

  1. A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. (PMID: 19765682) Ayub M … Ahmad W (American journal of human genetics 2009) 3 4 23 74
  2. Genomic organization and amplification of the human desmosomal cadherin genes DSC1 and DSC3, encoding desmocollin types 1 and 3. (PMID: 11027496) Whittock NV … McGrath JA (Biochemical and biophysical research communications 2000) 3 4 23
  3. The desmocollins of human foreskin epidermis: identification and chromosomal assignment of a third gene and expression patterns of the three isoforms. (PMID: 7665906) King IA … Buxton RS (The Journal of investigative dermatology 1995) 3 4 23
  4. Assignment of the human genes for desmocollin 3 (DSC3) and desmocollin 4 (DSC4) to chromosome 18q12. (PMID: 7774948) Amagai M … Shimizu N (Genomics 1995) 2 3 23
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41

ExternalLinks

View latest publications for DSC3 gene in Mastermind

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