DSC3 desmocollin 3 [Homo sapiens (human)] - Gene

Summary

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: mouse all
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Genomic context

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_000018.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
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.
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.
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.
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.
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	Compare labs

EBI GWAS Catalog

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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

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

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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

D11S2921 (e-PCR)
- UniSTS:152074

D8S2278 (e-PCR)
- UniSTS:473906

D8S2279 (e-PCR)
- UniSTS:473907

GDB:437227 (e-PCR)
- UniSTS:157243

RH47848 (e-PCR)
- UniSTS:89662

RH35913 (e-PCR)
- UniSTS:85859

NoName (e-PCR)
- UniSTS:150383

RH39274 (e-PCR)
- UniSTS:85408

DSC3_V8 (e-PCR)
- UniSTS:277171

DSC3_580 (e-PCR)
- UniSTS:277171

SHGC-35086 (e-PCR)
- UniSTS:81871

SHGC-148419 (e-PCR)
- UniSTS:176383

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

NG_016782.2 RefSeqGene

Range

5000..58377

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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