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Aliases for DSC3 Gene

Aliases for DSC3 Gene

  • Desmocollin 3 2 3
  • Cadherin Family Member 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 hereditary hypotrichosis with recurrent skin vesicles. Among its related pathways are Hypertrophic cardiomyopathy (HCM). GO annotations related to this gene include calcium ion binding and gamma-catenin binding. An important paralog of this gene is CDH13.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for DSC3 Gene

Genomics for DSC3 Gene

Regulatory Elements for DSC3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for DSC3 Gene

Chromosome:
18
Start:
30,989,365 bp from pter
End:
31,042,815 bp from pter
Size:
53,451 bases
Orientation:
Minus strand

Genomic View for DSC3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for DSC3 Gene at MOPED

Post-translational modifications for DSC3 Gene

  • Ubiquitination at Lys 180
  • Glycosylation at Asn 166, Asn 392, Asn 546, and Asn 629
  • Modification sites at PhosphoSitePlus

Other Protein References for DSC3 Gene

Antibody Products

No data available for DME Specific Peptides for DSC3 Gene

Domains & Families for DSC3 Gene

Gene Families for DSC3 Gene

Suggested Antigen Peptide Sequences for DSC3 Gene

GenScript: Design optimal peptide antigens:

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.
  • Contains 5 cadherin domains.
genes like me logo Genes that share domains with DSC3: view

Function for DSC3 Gene

Molecular function for DSC3 Gene

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
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

Gene Ontology (GO) - Molecular Function for DSC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0045295 gamma-catenin binding IPI 7983064
genes like me logo Genes that share ontologies with DSC3: view
genes like me logo Genes that share phenotypes with DSC3: view

Animal Models for DSC3 Gene

MGI Knock Outs for DSC3:

Animal Model Products

miRNA for DSC3 Gene

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DSC3

In Situ Assay Products

Flow Cytometry 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
Jensen Localization Image for DSC3 Gene COMPARTMENTS Subcellular localization image for DSC3 gene
Compartment Confidence
plasma membrane 5
extracellular 2
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for DSC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0005911 cell-cell junction TAS 7929347
GO:0016020 membrane TAS 7929347
genes like me logo Genes that share ontologies with DSC3: view

Pathways & Interactions for DSC3 Gene

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

Pathways by source for DSC3 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

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:0050821 protein stabilization IDA 7983064
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 Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Cytosine
  • 4-Amino-2(1H)-pyrimidinone
  • 4-Amino-2-hydroxypyrimidine
  • 4-Amino-2-oxo-1,2-dihydropyrimidine
  • 4-Aminouracil
  • Cytosine
71-30-7
genes like me logo Genes that share compounds with DSC3: view

Transcripts for DSC3 Gene

mRNA/cDNA for DSC3 Gene

Unigene Clusters for DSC3 Gene

Desmocollin 3:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for DSC3

Flow Cytometry 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
ECgene alternative splicing isoforms for
DSC3

Expression for DSC3 Gene

mRNA expression in normal human tissues 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, PaxDb, MOPED, and MaxQB for DSC3 Gene



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
genes like me logo Genes that share expression patterns with DSC3: view

Protein tissue co-expression partners for DSC3 Gene

- Elite partner

Primer Products

In Situ Assay Products

Orthologs for DSC3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for DSC3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia DSC3 35
  • 84.87 (n)
  • 81.08 (a)
DSC3 36
  • 81 (a)
OneToOne
dog
(Canis familiaris)
Mammalia DSC3 35
  • 86.48 (n)
  • 83.91 (a)
DSC3 36
  • 85 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Dsc3 35
  • 81.8 (n)
  • 80.52 (a)
Dsc3 16
Dsc3 36
  • 80 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia DSC3 35
  • 99.22 (n)
  • 99 (a)
DSC3 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Dsc3 35
  • 80.45 (n)
  • 79.95 (a)
oppossum
(Monodelphis domestica)
Mammalia DSC3 36
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 58 (a)
OneToMany
chicken
(Gallus gallus)
Aves -- 36
  • 48 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 45 (a)
ManyToMany
-- 36
  • 44 (a)
ManyToMany
zebrafish
(Danio rerio)
Actinopterygii dsc2l 36
  • 34 (a)
OneToMany
Species with no ortholog for DSC3:
  • 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)

Paralogs for DSC3 Gene

Paralogs for DSC3 Gene

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

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

Variants for DSC3 Gene

Sequence variations from dbSNP and Humsavar for DSC3 Gene

SNP ID Clin Chr 18 pos Sequence Context AA Info Type MAF
rs8765 -- 30,990,685(-) CAGGC(A/G)ATATT utr-variant-3-prime
rs166724 -- 31,025,526(-) TTCAA(A/T)GTATT intron-variant
rs166725 -- 31,034,017(-) aaacc(C/T)cgtct intron-variant
rs169347 -- 31,026,812(-) ccttg(A/T)cctga intron-variant
rs175776 -- 31,044,182(-) AAAAC(C/G)CTGGA upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv833613 CNV Gain+Loss 17160897
nsv909515 CNV Loss 21882294
nsv470414 CNV Loss 18288195

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)

Relevant External Links for DSC3 Gene

HapMap Linkage Disequilibrium report
DSC3
Human Gene Mutation Database (HGMD)
DSC3

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

Disorders for DSC3 Gene

MalaCards: The human disease database

(13) MalaCards diseases for DSC3 Gene - From: OMIM, ClinVar, Orphanet, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
hypotrichosis and recurrent skin vesicles
  • hrsv
hereditary hypotrichosis with recurrent skin vesicles
arrhythmogenic right ventricular dysplasia 11
  • arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair
subcorneal pustular dermatosis
  • sneddon-wilkinson disease
pemphigus vegetans
- elite association
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.

Relevant External Links for DSC3

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

No data available for Genatlas for DSC3 Gene

Publications for DSC3 Gene

  1. 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 23 67
  2. Disruption of desmosome assembly by monovalent human pemphigus vulgaris monoclonal antibodies. (PMID: 19037235) Mao X. … Payne A.S. (J. Invest. Dermatol. 2009) 23 67
  3. Confounding effects in "A six-gene signature predicting breast cancer lung metastasis". (PMID: 19723662) Culhane A.C. … Quackenbush J. (Cancer Res. 2009) 23 67
  4. A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles. (PMID: 19765682) Ayub M. … Ahmad W. (Am. J. Hum. Genet. 2009) 23 67
  5. Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q. (PMID: 19086034) Vincent J.B. … Petek E. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009) 23 67

Products for DSC3 Gene

Sources for DSC3 Gene

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