Gene

dsc2l

ID

ZDB-GENE-031116-55

Name

desmocollin 2 like

Symbol

dsc2l Nomenclature History

Previous Names

Dsc (1)
sb:cb859
wu:fa94h05

Type

protein_coding_gene

Location

Chr: 20 Mapping Details/Browsers

Description

Predicted to enable calcium ion binding activity. Involved in heart contraction and heart morphogenesis. Acts upstream of or within desmosome assembly; gastrulation; and heart development. Predicted to be located in anchoring junction and plasma membrane. Predicted to be active in desmosome. Is expressed in several structures, including EVL; cardiovascular system; ectoderm; peripheral olfactory organ; and pronephric duct. Used to study arrhythmogenic right ventricular cardiomyopathy. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular cardiomyopathy and arrhythmogenic right ventricular dysplasia 11. Orthologous to human DSC1 (desmocollin 1); DSC2 (desmocollin 2); and DSC3 (desmocollin 3).

Genome Resources

Note

None

Comparative Information

Expression

All Expression Data

11 figures from 5 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb859 (10 images)

Wild Type Expression Summary

Phenotype

All Phenotype Data: 8 figures from 3 publications
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With dsc2l Human Ortholog

Disease Ontology Term	Multi-Species Data	OMIM Term	OMIM Phenotype ID
arrhythmogenic right ventricular dysplasia 11	Alliance	Arrhythmogenic right ventricular dysplasia 11	610476
arrhythmogenic right ventricular dysplasia 11	Alliance	Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair	610476

Associated With dsc2l Via Experimental Models

Human Disease	Fish	Conditions	Citations
arrhythmogenic right ventricular cardiomyopathy	WT + MO7-dsc2l	standard conditions	Moreau et al., 2021
arrhythmogenic right ventricular cardiomyopathy	WT + MO6-dsc2l	standard conditions	Moreau et al., 2021

Gene Ontology

Protein Domains

Domain, Family, and Site Summary

Type	InterPro ID	Name
Conserved_site	IPR020894	Cadherin conserved site
Domain	IPR000233	Cadherin, Y-type LIR-motif
Domain	IPR002126	Cadherin-like
Domain	IPR014868	Cadherin prodomain
Family	IPR009122	Desmosomal cadherin
Family	IPR039808	Cadherin
Homologous_superfamily	IPR015919	Cadherin-like superfamily
Homologous_superfamily	IPR027397	Catenin binding domain superfamily