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
Predicted to be a structural constituent of cytoskeleton. Acts upstream of or within locomotory behavior; muscle contraction; and skeletal muscle organ development. Predicted to be active in several cellular components, including Z disc; intermediate filament; and sarcolemma. Is expressed in cardiovascular system; intestine; musculature system; and somite. 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
9 figures from 8 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
4 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Allele Type Localization Consequence Mutagen Supplier
kg156Allele with one deletionExon 1UnknownCRISPR
sa45246Allele with one point mutationUnknownPremature StopENU
umu11Allele with one delinsExon 1UnknownCRISPR
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Sequence Targeting Reagents
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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
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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
Family IPR050405 Intermediate filament structural protein
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Domain Details Per Protein
Protein Additional Resources Length Intermediate filament head, DNA-binding domain Intermediate filament protein, conserved site Intermediate filament, rod domain Intermediate filament structural protein
UniProtKB:Q05AI8 InterPro 474
UniProtKB:A0A8M9QFJ6 InterPro 461
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 6
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA desmb-201 (1) Ensembl 1,846 nt
ncRNA desmb-002 (1) Ensembl 314 nt
ncRNA desmb-003 (1) Ensembl 619 nt
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Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
No data available
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH73-17B14ZFIN Curated Data
EncodesESTfc11d08
EncodescDNAMGC:154009ZFIN Curated Data
EncodescDNAMGC:192686ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanDES2
Amino acid sequence comparison (3)
Conserved genome location (synteny) (1)
MouseDes1
Conserved genome location (synteny) (1)
Amino acid sequence comparison (3)
Phylogenetic tree (1)
Citations
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