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GENE AND PROTEIN SUMMARY

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Gene name

DMD

Description

dystrophin

Protein class

Mapped to UniProt SWISS-PROT, Plasma proteins, Potential transmembrane proteins

Protein evidence

High

Entrez gene summary

The dystrophin gene is the largest gene found in nature, measuring 2.4 Mb. The gene was identified through a positional cloning approach, targeted at the isolation of the gene responsible for Duchenne (DMD) and Becker (BMD) Muscular Dystrophies. DMD is a recessive, fatal, X-linked disorder occurring at a frequency of about 1 in 3,500 new-born males. BMD is a milder allelic form. In general, DMD patients carry mutations which cause premature translation termination (nonsense or frame shift mutations), while in BMD patients dystrophin is reduced either in molecular weight (derived from in-frame deletions) or in expression level. The dystrophin gene is highly complex, containing at least eight independent, tissue-specific promoters and two polyA-addition sites. Furthermore, dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. Dystrophin (as encoded by the Dp427 transcripts) is a large, rod-like cytoskeletal protein which is found at the inner surface of muscle fibers. Dystrophin is part of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton (F-actin) and the extra-cellular matrix. [provided by RefSeq, Jul 2008]

External links

Ensembl, UniProt, Entrez gene, neXtProt, Antibodypedia

No of splice variants

20 in total
0 with predicted TM region
0 with predicted signal peptide

SUBCELLULAR LOCATION SUMMARY

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Main location(s)

Nucleus but not nucleoli, Mitochondria

Additional location(s)

 

Staining summary

Localized to the mitochondria and nucleus but excluded from the nucleoli.

Reliability (APE)

Medium

Antibodies in assay

CAB000119, HPA023885
 

NORMAL TISSUE & ORGAN SUMMARY

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Expression summary

Distinct membranous expression in cardiac and skeletal muscle.

Tissue specificity

Expressed in 3 out of 83 cell types

Reliability (APE)

High

Antibodies in assay

CAB000119, HPA002725, HPA023885
 

Organ

No of cell types

Protein expression

CNS (brain) 11
Hematopoietic (blood) 8
Liver and pancreas 5
Digestive (GI-tract) 13
Respiratory (lung) 4
Cardiovascular 1
Female tissues 13
Placenta 2
Male tissues 5
Urinary tract (kidney) 3
Skin and soft tissues 15
Endocrine tissues 3

Level of annotated protein expression





High
Medium
Low
None

CANCER TISSUE SUMMARY

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Staining summary

Antibody staining in 32% of the cancers

Antibodies in assay

CAB000119, HPA002725, HPA023885
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Breast cancer
 
Carcinoid
 
Cervical cancer
 
 
Colorectal cancer
 
 
Endometrial cancer
 
 
Glioma
 
Head and neck cancer
 
 
Liver cancer
 
 
Lung cancer
 
 
Lymphoma
 
 
 

Tissue

Cancer staining

Protein
expression of
normal tissue

Melanoma
 
Ovarian cancer
 
Pancreatic cancer
 
Prostate cancer
 
Renal cancer
 
Skin cancer
 
Stomach cancer
 
 
Testis cancer
 
Thyroid cancer
 
Urothelial cancer
 

Level of antibody staining





Strong
Moderate
Weak
Negative

CELL LINE SUMMARY

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RNA evidence

Medium
 

Cell line

Cell origin

RNA abundance

IH staining

IF intensity

CAB000119

HPA002725

CAB000119

HPA023885

A-431 Skin Low
NegativeStrong
A-549 Lung Not detected
CACO-2 Colon Medium
HEK 293 Embryonal kidney Medium
HeLa Cervix Medium
Hep-G2 Liver Medium

-

MCF-7 Pleural effusion Low
PC-3 Bone marrow Medium
RT-4 Urinary bladder Low
U-2 OS Bone Low
WeakStrong
U-251 MG Brain Low
NegativeStrong

ANTIBODY SUMMARY

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Antibody

Clonality

Validation

CAB000119 mAb
HPA002725 pAb
HPA023885 pAb