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
  • Cadherin Family Member 3 3 4
  • Desmocollin-3 3 4
  • Desmocollin-4 3 4
  • CDHF3 3 4
  • HT-CP 3 4
  • DSC4 3 4
  • DSC1 3
  • DSC2 3
  • DSC 3

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 Keratinization and Developmental Biology. 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 for DSC3 Gene

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 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 513.7 +1.4 1447 4.5 ZIC2 ZBTB10 POLR2A ZNF423 ZBTB26 ZNF341 OSR2 ZNF266 KLF9 SP2 DSC3 ENSG00000263924 DSC2 TRAPPC8 lnc-DSC2-2
GH18J031011 Enhancer 1 Ensembl ENCODE 11.1 +31.4 31414 1.2 TCF12 ZNF639 TRIM28 ATF2 OSR2 KLF9 WT1 CREB1 FOXA2 ZBTB17 RNU6-857P DSC3 DSC2 lnc-DSG1-10 piR-38351-227
GH18J031202 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 6.8 -163.1 -163095 7.4 CTCF ZSCAN5C NRF1 POLR2G ZNF639 ZNF10 ZIC2 TRIM28 KLF7 TGIF2 HSALNG0120721 DSC2 RNF138 DSC1 DSC3 DSG1 DSG3 DSG2 HSALNG0120720 LOC105372049
GH18J031044 Enhancer 0.7 Ensembl ENCODE 13.6 -3.1 -3069 3.2 CEBPB FOS STAT3 RXRA NFIA FOXA2 FOXA1 PRDM1 SCRT2 MYC DSC3 DSC2 lnc-DSC2-1
GH18J030991 Enhancer 0.5 Ensembl ENCODE 10.4 +50.3 50325 1.8 SPI1 HMBOX1 DSC3 DSG1 piR-38351-227 lnc-DSG1-10
- 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 UCSC Golden Path with GeneCards custom track

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

Genomic Locations for DSC3 Gene
chr18:30,989,365-31,042,815
(GRCh38/hg38)
Size:
53,451 bases
Orientation:
Minus strand
chr18:28,569,974-28,622,781
(GRCh37/hg19)
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 StructureGene Density

RefSeq DNA sequence for DSC3 Gene

Proteins for DSC3 Gene

  • 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

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

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

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

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<tm1b(EUCOMM)Wtsi>
  • Dsc3 Dsc3<tm1Pko>

Animal Model Products

CRISPR Products

Clone Products

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
cytosol 2
lysosome 2
mitochondrion 1
peroxisome 1
endosome 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 TAS,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:0070268 cornification TAS --
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

(1) Drugs for DSC3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7884

(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

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 :

CRISPR Products

Clone Products

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

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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)

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

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 31 30
  • 99.22 (n)
OneToOne
dog
(Canis familiaris)
Mammalia DSC3 31 30
  • 86.48 (n)
OneToOne
cow
(Bos Taurus)
Mammalia DSC3 31 30
  • 84.87 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Dsc3 17 31 30
  • 81.8 (n)
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 (Ashbya 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 squirt (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

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
rs137852782 Pathogenic: Hypotrichosis and recurrent skin vesicles 31,001,724(-) A/C NONSENSE
rs276936 Benign: not specified 31,031,173(-) C/. SPLICE_ACCEPTOR_VARIANT
rs276921 - p.Arg199Trp
rs276937 - p.Ser78Thr
rs276938 - p.Arg102Lys

Additional dbSNP identifiers (rs#s) for DSC3 Gene

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 Assay Products

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

Disorders for DSC3 Gene

MalaCards: The human disease database

(28) MalaCards diseases for DSC3 Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

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 mutations affecting the gene represented in this entry.

Additional Disease Information for DSC3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 54
  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 54
  3. 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 54
  4. 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 54
  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 54

Products for DSC3 Gene

Sources for DSC3 Gene