DMD

Gene Information

Official Symbol: DMD
Official Name: dystrophin
Aliases and Previous Symbols: N/A
Entrez ID: 1756
UniProt: P11532
Interactions: BioGRID
PubMed articles: Open PubMed
OMIM: Open OMIM

Function Summary

Entrez Summary: This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016].
UniProt Summary: N/A

Pfam Domains GO Terms

CRISPR Data

Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)

Global Fraction of Cell Lines Where Essential: 0/694

Tissue	Fraction Of Cell Lines Where Essential
1290807.0	0/1
909776.0	0/1
bile duct	0/28
blood	0/26
bone	0/26
breast	0/30
central nervous system	0/49
cervix	0/4
colorectal	0/17
esophagus	0/11
fibroblast	0/1
gastric	0/14
kidney	0/18
liver	0/19
lung	0/72
lymphocyte	0/16
ovary	0/25
pancreas	0/22
peripheral nervous system	0/15
plasma cell	0/12
prostate	0/1
skin	0/20
soft tissue	0/9
thyroid	0/2
upper aerodigestive	0/22
urinary tract	0/28
uterus	0/5

Essentiality in NALM6

Essentiality Rank: 13203
Expression level (log2 read counts): 1.83

Expression Distribution

efhand 1
WW
efhand 2
Spectrin
ZZ
CH
CAMSAP CH

cell-substrate junction
syntrophin complex
regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion
negative regulation of peptidyl-cysteine S-nitrosylation
regulation of skeletal muscle contraction by calcium ion signaling
regulation of peptidyl-cysteine S-nitrosylation
dystroglycan binding
vinculin binding
regulation of skeletal muscle contraction
nitric-oxide synthase binding
positive regulation of sodium ion transmembrane transporter activity
dystrophin-associated glycoprotein complex
response to muscle stretch
filopodium membrane
costamere
regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion
neuron projection terminus
positive regulation of sodium ion transmembrane transport
muscle cell cellular homeostasis
myosin binding
regulation of cardiac muscle contraction by calcium ion signaling
regulation of ryanodine-sensitive calcium-release channel activity
negative regulation of peptidyl-serine phosphorylation
regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum
positive regulation of sodium ion transport
regulation of voltage-gated calcium channel activity
muscle filament sliding
actin-myosin filament sliding
structural constituent of muscle
cardiac muscle cell action potential
regulation of sodium ion transmembrane transporter activity
lateral plasma membrane
muscle fiber development
regulation of sodium ion transmembrane transport
filopodium
regulation of cardiac muscle contraction
regulation of release of sequestered calcium ion into cytosol
cardiac muscle contraction
regulation of sodium ion transport
heart contraction