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 enable actin binding activity and zinc ion binding activity. Acts upstream of or within several processes, including muscle attachment; striated muscle cell development; and swimming behavior. Located in 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
Comparative Information
Expression
All Expression Data
60 figures from 38 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
108 figures from 47 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
obsolete dilated cardiomyopathy 3B Alliance Cardiomyopathy, dilated, 3B 302045
X-linked dilated cardiomyopathy Alliance Cardiomyopathy, dilated, 3B 302045
Associated With dmd Via Experimental Models
Human Disease Fish Conditions Citations
muscular dystrophy dmdta222a/ta222a standard conditions Dennhag et al., 2024
muscular dystrophy TL + MO2-dmd standard conditions Zhang et al., 2015
muscular dystrophy dmdta222a/ta222a control Li et al., 2015
Duchenne muscular dystrophy dmdta222a/ta222a (AB) standard conditions English et al., 2022
Duchenne muscular dystrophy AB + MO1-dmd + MO6-dmd standard conditions Spreafico et al., 2021
Duchenne muscular dystrophy dmdta222a/ta222a standard conditions (2)
Duchenne muscular dystrophy dmdcl100/cl100 standard conditions (3)
Duchenne muscular dystrophy dmdpc2/pc2 standard conditions (2)
Duchenne muscular dystrophy dmdta222a/ta222a standard conditions (12)
Duchenne muscular dystrophy WT + MO1-dmd + MO6-dmd standard conditions (2)
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 IPR050774 KCMF1 and Dystrophin
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 Additional Resources 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 KCMF1 and Dystrophin Spectrin/alpha-actinin Spectrin repeat WW domain WW domain superfamily Zinc finger, ZZ-type Zinc finger, ZZ-type superfamily
UniProtKB:A0A8M9PJA8 InterPro 3584
UniProtKB:A0A8M9QD82 InterPro 340
UniProtKB:A0A8M9Q2H9 InterPro 3469
UniProtKB:A0A8M9QD77 InterPro 3607
UniProtKB:A0A8M9Q7T4 InterPro 3587
UniProtKB:A0A8M6Z645 InterPro 3582
UniProtKB:A0A0R4IXX0 InterPro 3609
UniProtKB:A0A8M6YYV3 InterPro 3560
UniProtKB:A0A8M9PWR0 InterPro 3521
UniProtKB:A0A8M3B442 InterPro 634
UniProtKB:F1QDK4 InterPro 594
UniProtKB:A0AB32TSG9 InterPro 609
Transcripts
Genome Browsers
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA dmd-201 (1)
Ensembl
Ensembl 3,488 nt
ZFIN BLAST
mRNA dmd-202 (1)
Ensembl
Ensembl 2,163 nt
ZFIN BLAST
mRNA dmd-203 (1)
Ensembl
Ensembl 11,030 nt
ZFIN BLAST
mRNA dmd-205 (1)
Ensembl
Ensembl 1,196 nt
ZFIN BLAST
mRNA dmd-209 (1)
Ensembl
Ensembl 722 nt
ZFIN BLAST
mRNA dmd-211 (1)
Ensembl
Ensembl 579 nt
ZFIN BLAST
mRNA dmd-212 (1)
Ensembl
Ensembl 11,360 nt
ZFIN BLAST
ncRNA dmd-005 (1)
Ensembl
Ensembl 696 nt
ZFIN BLAST
ncRNA dmd-006 (1)
Ensembl
Ensembl 708 nt
ZFIN BLAST
ncRNA dmd-007 (1)
Ensembl
Ensembl 676 nt
ZFIN BLAST
ncRNA dmd-008 (1)
Ensembl
Ensembl 780 nt
ZFIN BLAST
ncRNA dmd-009 (1)
Ensembl
Ensembl 530 nt
ZFIN BLAST
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
42
Plasmids
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations
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