GeneBe

DSC3

desmocollin 3, the group of Desmosomal cadherins

Basic information

Region (hg38): 18:30989365-31042815

Previous symbols: [ "DSC4" ]

Links

ENSG00000134762 ∙ NCBI:1825 ∙ OMIM:600271 ∙ HGNC:3037 ∙ Uniprot:Q14574 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • hereditary hypotrichosis with recurrent skin vesicles (Moderate), mode of inheritance: AR
  • hereditary hypotrichosis with recurrent skin vesicles (Strong), mode of inheritance: AR
  • hereditary hypotrichosis with recurrent skin vesicles (Moderate), mode of inheritance: AR
  • hereditary hypotrichosis with recurrent skin vesicles (Supportive), mode of inheritance: AR
  • hereditary hypotrichosis with recurrent skin vesicles (Moderate), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

ConditionInheritanceIntervention CategoriesIntervention/Rationale Manifestation CategoriesReferences
Hypotrichosis and recurrent skin vesiclesARGeneralGenetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testingDermatologic19765682

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the DSC3 gene.

  • not_specified (115 variants)
  • not_provided (16 variants)
  • Hereditary_hypotrichosis_with_recurrent_skin_vesicles (5 variants)
  • DSC3-related_disorder (4 variants)
  • EBV-positive_nodal_T-_and_NK-cell_lymphoma (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DSC3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001941.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
3
clinvar
2
clinvar
 5
missense
104
clinvar
11
clinvar
3
clinvar
 118
nonsense
2
clinvar
1
clinvar
 3
start loss
0
frameshift
2
clinvar
1
clinvar
 3
splice donor/acceptor (+/-2bp)
2
clinvar
1
clinvar
 3
Total 2 5 105 15 5

Highest pathogenic variant AF is 0.000161841

Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DSC3protein_codingprotein_codingENST00000360428 1652808
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
2.28e-210.0065012549412531257480.00101
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.6485264861.080.00002505836
Missense in Polyphen171175.320.975342192
Synonymous-1.782061761.170.000008831752
Loss of Function0.5803437.90.8980.00000176521

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.003750.00374
Ashkenazi Jewish0.000.00
East Asian0.0009310.000925
Finnish0.0001850.000185
European (Non-Finnish)0.0007170.000712
Middle Eastern0.0009310.000925
South Asian0.002680.00265
Other0.0008160.000815

dbNSFP

Source: dbNSFP

Function
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.;
Disease
DISEASE: 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.;
Pathway
Keratinization;Developmental Biology;Formation of the cornified envelope (Consensus)

Recessive Scores

pRec
0.0822

Intolerance Scores

loftool
0.964
rvis_EVS
0.3
rvis_percentile_EVS
71.68

Haploinsufficiency Scores

pHI
0.185
hipred
N
hipred_score
0.368
ghis
0.493

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.620

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Dsc3
Phenotype
mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); normal phenotype; cellular phenotype;

Gene ontology

Biological process
in utero embryonic development;cell adhesion;homophilic cell adhesion via plasma membrane adhesion molecules;keratinization;cornification
Cellular component
cornified envelope;extracellular region;cytoplasm;plasma membrane;cell-cell junction;membrane;integral component of membrane;cell junction;desmosome
Molecular function
calcium ion binding