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 have calcium ion binding activity. Involved in desmosome assembly; gastrulation; and heart development. Predicted to localize to desmosome. Human ortholog(s) of this gene implicated in arrhythmogenic right ventricular dysplasia 11. Is expressed in several structures, including EVL; cardiovascular system; ectoderm; peripheral olfactory organ; and pronephric duct. Orthologous to human DSC1 (desmocollin 1); DSC2 (desmocollin 2); and DSC3 (desmocollin 3).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
9 figures from 4 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
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
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR020894 Cadherin conserved site
Domain IPR000233 Cadherin, cytoplasmic domain
Domain IPR002126 Cadherin-like
Domain IPR014868 Cadherin prodomain
Family IPR009122 Desmosomal cadherin
Family IPR009123 Desmoglein
Homologous_superfamily IPR015919 Cadherin-like superfamily
Homologous_superfamily IPR027397 Catenin binding domain superfamily
Domain Details Per Protein
Protein Length Cadherin conserved site Cadherin, cytoplasmic domain Cadherin-like Cadherin-like superfamily Cadherin prodomain Catenin binding domain superfamily Desmoglein Desmosomal cadherin
UniProtKB:Q08BK3 914
UniProtKB:B3DLJ9 864
UniProtKB:F1QSQ0 934
UniProtKB:H2EQR5 891
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations