Gene
dmd
- ID
- ZDB-GENE-010426-1
- Name
- dystrophin
- Symbol
- dmd Nomenclature History
- Previous Names
- 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
-
- All Expression Data
- 59 figures from 38 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- cb664 (15 images)
- IMAGE:6911785 (9 images)
Wild Type Expression Summary
- All Phenotype Data
- 94 figures from 43 publications
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
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 |
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 |
Type | Name | Length (nt) | Analysis |
---|---|---|---|
mRNA |
dmd-201
(1)
|
3488 nt | |
mRNA |
dmd-202
(1)
|
2163 nt | |
mRNA |
dmd-203
(1)
|
11030 nt | |
mRNA |
dmd-205
(1)
|
1196 nt | |
mRNA |
dmd-209
(1)
|
722 nt | |
mRNA |
dmd-211
(1)
|
579 nt | |
ncRNA |
dmd-005
(1)
|
696 nt | |
ncRNA |
dmd-006
(1)
|
708 nt | |
ncRNA |
dmd-007
(1)
|
676 nt | |
ncRNA |
dmd-008
(1)
|
780 nt | |
ncRNA |
dmd-009
(1)
|
530 nt |
Interactions and Pathways
No data available
Plasmids
No data available