Gene

desma

ID
ZDB-GENE-980526-221
Name
desmin a
Symbol
desma Nomenclature History
Previous Names
  • des
  • desm
  • cb290 (1)
  • wu:fb59a12
  • zgc:109859
Type
protein_coding_gene
Location
Chr: 9 Mapping Details/Browsers
Description
Predicted to be a structural constituent of cytoskeleton. Acts upstream of or within several processes, including regulation of calcium ion transport into cytosol; regulation of cardiac muscle contraction by calcium ion signaling; and sarcomere organization. Located in Z disc. Is expressed in several structures, including cardiovascular system; mesoderm; musculature system; pectoral fin; and somite. Used to study myofibrillar myopathy 1. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple) and myopathy (multiple). Orthologous to human DES (desmin).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
45 figures from 22 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
16 figures from 4 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With desma Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
dilated cardiomyopathy 1I Alliance Cardiomyopathy, dilated, 1I 604765
myofibrillar myopathy 1 Alliance Myopathy, myofibrillar, 1 601419
neurogenic scapuloperoneal syndrome Kaeser type Alliance Scapuloperoneal syndrome, neurogenic, Kaeser type 181400
Associated With desma Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR018039 Intermediate filament protein, conserved site
Domain IPR006821 Intermediate filament head, DNA-binding domain
Domain IPR039008 Intermediate filament, rod domain
Domain Details Per Protein
Protein Length Intermediate filament head, DNA-binding domain Intermediate filament protein, conserved site Intermediate filament, rod domain
UniProtKB:F1R8W4 473
UniProtKB:F1R8W3 488
UniProtKB:Q90441 473
UniProtKB:Q568U6 488
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab1-desm polyclonal Rabbit
  • IHC
  • WB
Sigma-Aldrich
16
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations