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DSC3 desmocollin 3 [ Homo sapiens (human) ]

Gene ID: 1825, updated on 7-Apr-2024

Summary

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Official Symbol
DSC3provided by HGNC
Official Full Name
desmocollin 3provided by HGNC
Primary source
HGNC:HGNC:3037
See related
Ensembl:ENSG00000134762 MIM:600271; AllianceGenome:HGNC:3037
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DSC; DSC1; DSC2; DSC4; CDHF3; HT-CP
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]
Expression
Biased expression in skin (RPKM 186.5) and esophagus (RPKM 47.4) See more
Orthologs
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Genomic context

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Location:
18q12.1
Exon count:
17
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 18 NC_000018.10 (30989365..31042742, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 18 NC_060942.1 (31179590..31233008, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (28569331..28622708, complement)

Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105372046 Neighboring gene uncharacterized LOC105372047 Neighboring gene MPRA-validated peak3090 silencer Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr18:28192518-28193108 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:28211486-28212210 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr18:28212211-28212933 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:28343574-28344560 Neighboring gene NANOG hESC enhancer GRCh37_chr18:28395882-28396383 Neighboring gene MPRA-validated peak3091 silencer Neighboring gene ReSE screen-validated silencer GRCh37_chr18:28565824-28566020 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr18:28577152-28577726 Neighboring gene RNA, U6 small nuclear 857, pseudogene Neighboring gene uncharacterized LOC124904345 Neighboring gene uncharacterized LOC124904377 Neighboring gene desmocollin 2 Neighboring gene DSC1/DSC2 antisense RNA Neighboring gene desmocollin 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Autoantibodies to DSC3 in Pemphigus Exclusively Recognize Calcium-Dependent Epitope in Extracellular Domain 2. Koga H, et al. J Invest Dermatol, 2021 Sep. PMID 33766509
  2. Desmocollin 3 has a tumor suppressive activity through inhibition of AKT pathway in colorectal cancer. Cui T, et al. Exp Cell Res, 2019 May 15. PMID 30857973
  3. Sonographic alteration of substantia nigra is related to parkinsonism-predominant course of X-linked dystonia-parkinsonism. Walter U, et al. Parkinsonism Relat Disord, 2017 Apr. PMID 28094105
  4. Association of DSC3 mRNA down-regulation in prostate cancer with promoter hypermethylation and poor prognosis. Pan J, et al. PLoS One, 2014. PMID 24664224, Free PMC Article
  5. Large cell carcinoma of the lung: clinically oriented classification integrating immunohistochemistry and molecular biology. Rossi G, et al. Virchows Arch, 2014 Jan. PMID 24221342

See all (97) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Two cases of Hallopeau-type pemphigus vegetans with anti-desmoglein 1 and anti-desmocollin 3 antibodies without mucosal involvement.
    Title: Two cases of Hallopeau-type pemphigus vegetans with anti-desmoglein 1 and anti-desmocollin 3 antibodies without mucosal involvement.
  2. Autoantibodies to DSC3 in Pemphigus Exclusively Recognize Calcium-Dependent Epitope in Extracellular Domain 2.
    Title: Autoantibodies to DSC3 in Pemphigus Exclusively Recognize Calcium-Dependent Epitope in Extracellular Domain 2.
  3. DSC3 suppresses colorectal cancer cell growth through inhibition of AKT pathway and regulation of E-cadherin
    Title: Desmocollin 3 has a tumor suppressive activity through inhibition of AKT pathway in colorectal cancer.
  4. The Findings of this study imply early alteration of the substantia nigra in XDP mutation carriers prone to develop parkinsonism.
    Title: Sonographic alteration of substantia nigra is related to parkinsonism-predominant course of X-linked dystonia-parkinsonism.
  5. Data show that fetal pMSCs (mesenchymal stromal cells) expressing the highest levels of desmoglein 2, desmocollin 3 and plakophilin 2, followed by maternal pMSCs, while bmMSCs expressed the lowest levels.
    Title: Expression of Desmoglein 2, Desmocollin 3 and Plakophilin 2 in Placenta and Bone Marrow-Derived Mesenchymal Stromal Cells.
  6. Napsin-A, and Desmocollin-3 were sensitive and specific markers for the diagnosis of AC and SCC, respectively. Both markers allowed classification of 54/60 cases into either AC or SCC.
    Title: The role of Napsin-A and Desmocollin-3 in classifying poorly differentiating non-small cell lung carcinoma.
  7. Suggest that Dsc3 can mediate FSH-induced ovarian cancer cell proliferation by activating the EGFR/Akt signaling pathway.
    Title: Desmocollin 3 mediates follicle stimulating hormone-induced ovarian epithelial cancer cell proliferation by activating the EGFR/Akt signaling pathway.
  8. data suggests that DNA methylation contributes to down-regulation of DSC3 in prostate cancer, and loss of DSC3 predicts poor clinical outcome.
    Title: Association of DSC3 mRNA down-regulation in prostate cancer with promoter hypermethylation and poor prognosis.
  9. Low expression of DSC 1, 2, and 3 was observed in 55, 54, and 79 % of liver metastases.
    Title: The influence of desmocollin 1-3 expression on prognosis after curative resection of colorectal liver metastases.
  10. The data show an important role of physiologically occurring transcript d2-d4 in normal brain function. Interference with this role by DSC3 is a likely pathological mechanism in X-chromosomal dystonia parkinsonism syndrome
    Title: X-linked dystonia parkinsonism syndrome (XDP, lubag): disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism.
Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Hereditary hypotrichosis with recurrent skin vesicles
MedGen: C2751292 OMIM: 613102 GeneReviews: Not available
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EBI GWAS Catalog

Description
A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
EBI GWAS Catalog
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

HIV-1 interactions

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Protein interactions

Protein Gene Interaction Pubs
Envelope surface glycoprotein gp160, precursor env HIV-1 gp160 is identified to have a physical interaction with desmocollin 3 (DSC3) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables calcium ion binding IBA
Inferred from Biological aspect of Ancestor
more info
  
enables gamma-catenin binding IBA
Inferred from Biological aspect of Ancestor
more info
  
Process Evidence Code Pubs
involved_in cell adhesion TAS
Traceable Author Statement
more info
 PubMed 
involved_in cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in homophilic cell adhesion via plasma membrane adhesion molecules IEA
Inferred from Electronic Annotation
more info
  
involved_in in utero embryonic development IEA
Inferred from Electronic Annotation
more info
  
Component Evidence Code Pubs
located_in cell junction IDA
Inferred from Direct Assay
more info
  
located_in cell-cell junction TAS
Traceable Author Statement
more info
 PubMed 
located_in cornified envelope TAS
Traceable Author Statement
more info
  
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
  
is_active_in desmosome IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in membrane TAS
Traceable Author Statement
more info
 PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
desmocollin-3
Names
cadherin family member 3
desmocollin-4

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_016782.2 RefSeqGene

    Range
    5000..58377
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001941.5 → NP_001932.2  desmocollin-3 isoform Dsc3a preproprotein

    See identical proteins and their annotated locations for NP_001932.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Dsc3a) represents the shorter transcript but encodes the longer isoform (Dsc3a).
    Source sequence(s)
    AC025212, AI123917, D17427, DA860471
    Consensus CDS
    CCDS32810.1
    UniProtKB/Swiss-Prot
    A6NN35, Q14200, Q14574, Q9HAZ9
    UniProtKB/TrEMBL
    A8K6T3
    Related
    ENSP00000353608.4, ENST00000360428.9
    Conserved Domains (5) summary
    cd11304
    Location:247 → 351
    Cadherin_repeat; Cadherin tandem repeat domain
    smart01055
    Location:27 → 111
    Cadherin_pro; Cadherin prodomain like
    pfam00028
    Location:360 → 462
    Cadherin; Cadherin domain
    pfam01049
    Location:829 → 891
    Cadherin_C; Cadherin cytoplasmic region
    cl09101
    Location:596 → 669
    E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus

  2. NM_024423.4 → NP_077741.2  desmocollin-3 isoform Dsc3b preproprotein

    Status: REVIEWED

    Description
    Transcript Variant: This variant (Dsc3b) includes an additional exon in the 3' region and it thus differs in its 3' coding region and 3' UTR, compared to variant Dsc3a. The encoded isoform (Dsc3b) has a distinct C-terminus and is shorter than isoform Dsc3a. There are no publicly available full-length transcripts representing this variant, but it is supported by mRNA annotation on DNA accession AF293359.1, and by data in PMIDs 7929347 and 11027496.
    Source sequence(s)
    AC025212, AI123917, BG214334, BG697535, D17427, DA860471
    UniProtKB/TrEMBL
    A8K6T3
    Related
    ENSP00000392068.1, ENST00000434452.5
    Conserved Domains (4) summary
    cd11304
    Location:247 → 351
    Cadherin_repeat; Cadherin tandem repeat domain
    smart01055
    Location:27 → 111
    Cadherin_pro; Cadherin prodomain like
    pfam00028
    Location:360 → 462
    Cadherin; Cadherin domain
    cl09101
    Location:596 → 669
    E_set; Early set domain associated with the catalytic domain of sugar utilizing enzymes at either the N or C terminus

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p14 Primary Assembly

    Range
    30989365..31042742 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060942.1 Alternate T2T-CHM13v2.0

    Range
    31179590..31233008 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q14574.3 GenPept UniProtKB/Swiss-Prot:Q14574

Gene LinkOut

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