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

59 figures from 38 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

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

Wild Type Expression Summary

Phenotype

All Phenotype Data: 94 figures from 43 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

Human Disease	Fish	Conditions	Citations
muscular dystrophy	TL + MO2-dmd	standard conditions	Zhang et al., 2015
muscular dystrophy	dmd^{ta222a/ta222a}	control	Li et al., 2015
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^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	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 InterPro	96
UniProtKB:F1QXP9 InterPro	1096
UniProtKB:Q503T6 InterPro	594
UniProtKB:F1QVF5 InterPro	362
UniProtKB:Q90ZT1 InterPro	1096
UniProtKB:F1QC58 InterPro	206
UniProtKB:A0A0R4IXX0 InterPro	3609
UniProtKB:F1R0H8 InterPro	3633
UniProtKB:A0A0R4IF13 InterPro	583
UniProtKB:Q6YBR7 InterPro	541
UniProtKB:F1R7V2 InterPro	149
UniProtKB:Q90ZT0 InterPro	363
UniProtKB:F1QDK4 InterPro	594

Transcripts

Genome Browsers

Type	Name	Length (nt)	Analysis
mRNA	dmd-201 (1) Ensembl	3488 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	dmd-202 (1) Ensembl	2163 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	dmd-203 (1) Ensembl	11030 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	dmd-205 (1) Ensembl	1196 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	dmd-209 (1) Ensembl	722 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
mRNA	dmd-211 (1) Ensembl	579 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	dmd-005 (1) Ensembl	696 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	dmd-006 (1) Ensembl	708 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	dmd-007 (1) Ensembl	676 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	dmd-008 (1) Ensembl	780 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT
ncRNA	dmd-009 (1) Ensembl	530 nt	Select Tool ZFIN BLAST NCBI BLAST Ensembl UCSC BLAT

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	41

Plasmids

No data available

Constructs

Marker Relationships

Sequences

Orthology

Comparative Orthology: Alliance
Gene Tree: Ensembl

Citations