Gene

desmb

ID
ZDB-GENE-061027-102
Name
desmin b
Symbol
desmb Nomenclature History
Previous Names
  • wu:fc11d08
  • zgc:154009
Type
protein_coding_gene
Location
Chr: 6 Mapping Details/Browsers
Description
Acts upstream of or within locomotory behavior; muscle contraction; and skeletal muscle organ development. Predicted to be located in intermediate filament. Is expressed in cranial blood vessel; heart; and trunk vasculature. 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
5 figures from 5 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
1 Figure from B├╝hrdel et al., 2015
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With desmb 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 desmb Via Experimental Models
No data available
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
Homologous_superfamily IPR042180 Intermediate filament, rod domain, coil 1B
Domain Details Per Protein
Protein Length Intermediate filament head, DNA-binding domain Intermediate filament protein, conserved site Intermediate filament, rod domain Intermediate filament, rod domain, coil 1B
UniProtKB:A0A2R8PYZ9 474
UniProtKB:Q05AI8 474
UniProtKB:F1QK59 473
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