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
Pfam Domains
| efhand 1 |
| WW |
| efhand 2 |
| Spectrin |
| ZZ |
| CH |
| CAMSAP CH |
GO Terms
| 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 |
| regulation of calcium ion transmembrane transporter activity |
| actin-mediated cell contraction |
| regulation of striated muscle contraction |
| action potential |
| regulation of heart rate |
| regulation of calcium-mediated signaling |
| regulation of calcium ion transport into cytosol |
| sarcolemma |
| heart process |
| structural constituent of cytoskeleton |
| positive regulation of ion transmembrane transporter activity |
| striated muscle contraction |
| actin filament-based movement |
| positive regulation of transporter activity |
| regulation of sequestering of calcium ion |
| Z disc |
| striated muscle cell development |
| regulation of peptidyl-serine phosphorylation |
| positive regulation of cation transmembrane transport |
| calcium-mediated signaling |
| regulation of calcium ion transmembrane transport |
| muscle cell development |
| positive regulation of ion transmembrane transport |
| regulation of muscle contraction |
| regulation of cation channel activity |
| postsynaptic membrane |
| striated muscle cell differentiation |
| positive regulation of transmembrane transport |
| response to mechanical stimulus |
| membrane raft |
| regulation of muscle system process |
| regulation of heart contraction |
| muscle cell differentiation |
| regulation of calcium ion transport |
| muscle contraction |
| regulation of ion transmembrane transporter activity |
| regulation of transmembrane transporter activity |
| synapse |
| actin binding |
| positive regulation of ion transport |
| regulation of transporter activity |
| regulation of blood circulation |
| muscle organ development |
| muscle system process |
| regulation of cation transmembrane transport |
| second-messenger-mediated signaling |
| anatomical structure homeostasis |
| cytoskeleton |
| regulation of metal ion transport |
| blood circulation |
| circulatory system process |
| negative regulation of protein phosphorylation |
| peptide biosynthetic process |
| regulation of membrane potential |
| negative regulation of phosphorylation |
| muscle structure development |
| regulation of ion transmembrane transport |
| amide biosynthetic process |
| peptide metabolic process |
| negative regulation of phosphate metabolic process |
| negative regulation of phosphorus metabolic process |
| regulation of transmembrane transport |
| actin filament-based process |
| regulation of system process |
| negative regulation of protein modification process |
| protein-containing complex |
| cell surface |
| regulation of ion transport |
| cellular amide metabolic process |
| zinc ion binding |
| cellular protein-containing complex assembly |
| cellular homeostasis |
| regulation of cellular localization |
| positive regulation of transport |
| negative regulation of cellular protein metabolic process |
| negative regulation of protein metabolic process |
| cytoskeleton organization |
| response to abiotic stimulus |
| organonitrogen compound biosynthetic process |
| regulation of protein phosphorylation |
| movement of cell or subcellular component |
| protein-containing complex assembly |
| cellular protein localization |
| regulation of phosphorylation |
| cellular macromolecule localization |
| cellular nitrogen compound biosynthetic process |
| homeostatic process |
| cell development |
| intracellular signal transduction |
| positive regulation of molecular function |
| regulation of phosphate metabolic process |
| regulation of phosphorus metabolic process |
| regulation of intracellular signal transduction |
| regulation of protein modification process |
| protein-containing complex subunit organization |
| regulation of transport |
| system process |
CRISPR Data
Compound Hit Most Correlated Genes in Chemogenomics Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
| Screen | Score |
|---|---|
| DABN 2μM R00 exp16 | 1.72 |
Most Correlated Genes in Chemogenomics
| Gene | Correlation |
|---|---|
| RRM1 | 0.527 |
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
DMD Expression in NALM6 Cells: 1.83
