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

Comparative Information

Expression

All Expression Data

60 figures from 38 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Daniocell

Thisse Expression Data

cb664 (15 images)
IMAGE:6911785 (9 images)

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	dmd^{ta222a/ta222a}	standard conditions	Dennhag et al., 2024
muscular dystrophy	TL + MO2-dmd	standard conditions	Zhang et al., 2015
muscular dystrophy	dmd^{ta222a/ta222a}	control	Li et al., 2015
Duchenne muscular dystrophy	dmd^{ta222a/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	dmd^{ta222a/ta222a}	standard conditions	(2)
Duchenne muscular dystrophy	dmd^pc2/pc2	control	Terrill et al., 2023
Duchenne muscular dystrophy	dmd^cl100/cl100	standard conditions	(3)
Duchenne muscular dystrophy	dmd^pc2/pc2	standard conditions	Sztal et al., 2016
Duchenne muscular dystrophy	dmd^{ta222a/ta222a}	control	Goody et al., 2017
Duchenne muscular dystrophy	dmd^{ta222a/ta222a}	standard conditions	(11)
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	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

Transcripts

Genome Browsers

Type	Name	Annotation Method	Length (nt)	Analysis
mRNA	dmd-201 (1) Ensembl	Ensembl	3,488 nt	Select Tool
mRNA	dmd-202 (1) Ensembl	Ensembl	2,163 nt	Select Tool
mRNA	dmd-203 (1) Ensembl	Ensembl	11,030 nt	Select Tool
mRNA	dmd-205 (1) Ensembl	Ensembl	1,196 nt	Select Tool
mRNA	dmd-209 (1) Ensembl	Ensembl	722 nt	Select Tool
mRNA	dmd-211 (1) Ensembl	Ensembl	579 nt	Select Tool
mRNA	dmd-212 (1) Ensembl	Ensembl	11,360 nt	Select Tool ZFIN BLAST
ncRNA	dmd-005 (1) Ensembl	Ensembl	696 nt	Select Tool
ncRNA	dmd-006 (1) Ensembl	Ensembl	708 nt	Select Tool
ncRNA	dmd-007 (1) Ensembl	Ensembl	676 nt	Select Tool
ncRNA	dmd-008 (1) Ensembl	Ensembl	780 nt	Select Tool
ncRNA	dmd-009 (1) Ensembl	Ensembl	530 nt	Select Tool

Interactions and Pathways

No data available

Antibodies

Name	Type	Antigen Genes	Isotype	Host Organism	Assay	Source	Citations
Ab3-dmd	polyclonal	dmd		Rabbit	WB		3
Ab4-dmd	polyclonal	dmd		Rabbit	IHC WB		2
Ab1-dmd	monoclonal	dmd	IgG1	Mouse	IHC WB	Sigma-Aldrich Developmental Studies Hybridoma Bank	42

Plasmids

Addgene:172530

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations