Gene

dmd

ID
ZDB-GENE-010426-1
Name
dystrophin
Symbol
dmd Nomenclature History
Previous Names
  • cb664 (1)
  • Dp71 (1)
  • Duchenne muscular dystrophy (1)
  • im:6911785
  • sap
  • sapje-like (1)
  • sapje
  • zfDYS (1)
  • zgc:110165
Type
protein_coding_gene
Location
Chr: 1 Mapping Details/Browsers
Description
Predicted to have actin binding activity and zinc ion binding activity. Involved in several processes, including sarcomere organization; skeletal muscle organ development; and somatic muscle development. Localizes to sarcolemma. Is expressed in several structures, including axial mesoderm; axis; chordo neural hinge; musculature system; and somite. Used to study Duchenne muscular dystrophy and muscular dystrophy. Human ortholog(s) of this gene implicated in cognitive disorder; dilated cardiomyopathy (multiple); intellectual disability; and muscular dystrophy (multiple). Orthologous to human DMD (dystrophin).
Genome Resources
Note
None
Expression
All Expression Data
54 figures from 34 publications
Cross-Species Comparison
High Throughput Data
No data available
Wild Type Expression Summary
Phenotype
All Phenotype Data
67 figures from 33 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With dmd Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Becker muscular dystrophy Alliance Becker muscular dystrophy 300376
Duchenne muscular dystrophy Alliance Duchenne muscular dystrophy 310200
X-linked dilated cardiomyopathy Alliance Cardiomyopathy, dilated, 3B 302045
Associated With dmd Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Conserved_site IPR001589 Actinin-type actin-binding domain, conserved site
Domain IPR000433 Zinc finger, ZZ-type
Domain IPR001202 WW domain
Domain IPR001715 Calponin homology domain
Domain IPR015153 EF-hand domain, type 1
Domain IPR015154 EF-hand domain, type 2
Family IPR035436 Dystrophin/utrophin
Homologous_superfamily IPR011992 EF-hand domain pair
Homologous_superfamily IPR036020 WW domain superfamily
Homologous_superfamily IPR036872 CH domain superfamily
Homologous_superfamily IPR043145 Zinc finger, ZZ-type superfamily
Repeat IPR002017 Spectrin repeat
Repeat IPR018159 Spectrin/alpha-actinin
Domain Details Per Protein
Protein Length Actinin-type actin-binding domain, conserved site Calponin homology domain CH domain superfamily Dystrophin/utrophin EF-hand domain pair EF-hand domain, type 1 EF-hand domain, type 2 Spectrin/alpha-actinin Spectrin repeat WW domain WW domain superfamily Zinc finger, ZZ-type Zinc finger, ZZ-type superfamily
UniProtKB:F1QC58 206
UniProtKB:Q6YBR7 541
UniProtKB:F1QDK4 594
UniProtKB:Q503T6 594
UniProtKB:F1QXP9 1096
UniProtKB:A2CKC8 96
UniProtKB:Q90ZT0 363
UniProtKB:F1QVF5 362
UniProtKB:F1R0H8 3633
UniProtKB:Q90ZT1 1096
UniProtKB:F1R7V2 149
UniProtKB:A0A0R4IXX0 3609
UniProtKB:A0A0R4IF13 583
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
Name Type Antigen Genes Isotype Host Organism Assay Source Citations
Ab3-dmd polyclonal Rabbit
  • WB
3
Ab4-dmd polyclonal Rabbit
  • IHC
  • WB
2
Ab1-dmd monoclonal IgG1 Mouse
  • IHC
  • WB
Sigma-Aldrich
Developmental Studies Hybridoma Bank
37
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations