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. 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). Is expressed in several structures, including axial mesoderm; axis; chordo neural hinge; musculature system; and somite. Orthologous to human DMD (dystrophin).
Genome Resources
Note
None
Comparative Information
Expression
All Expression Data
57 figures from 36 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
77 figures from 38 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
dilated cardiomyopathy 3B Alliance Cardiomyopathy, dilated, 3B 302045
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
Family IPR039959 Fimbrin/Plastin
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 Fimbrin/Plastin Spectrin/alpha-actinin Spectrin repeat WW domain WW domain superfamily Zinc finger, ZZ-type Zinc finger, ZZ-type superfamily
UniProtKB:A2CKC8 96
UniProtKB:F1QXP9 1096
UniProtKB:Q503T6 594
UniProtKB:F1QVF5 362
UniProtKB:Q90ZT1 1096
UniProtKB:F1QC58 206
UniProtKB:A0A0R4IXX0 3609
UniProtKB:F1R0H8 3633
UniProtKB:A0A0R4IF13 583
UniProtKB:Q6YBR7 541
UniProtKB:F1R7V2 149
UniProtKB:Q90ZT0 363
UniProtKB:F1QDK4 594
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
41
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations