DMD

GENERAL INFORMATION

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Gene name

DMD

Gene description

Dystrophin

Protein class

Cancer-related genes
Cytoskeleton related proteins
Disease related genes
Plasma proteins
Predicted intracellular proteins

Predicted localization

Intracellular

Number of transcripts

20
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Mixed
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

Distinct membranous expression in cardiac and skeletal muscle.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 3 antibodies.
HPA002725 , HPA023885 , CAB000119
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Heart muscle

Liver

Colon

Kidney

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



GENE INFORMATION

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Gene name

DMD (HGNC Symbol)

Synonyms

BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272, MRX85

Description

Dystrophin (HGNC Symbol)

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]

Chromosome

X

Cytoband

Chromosome location (bp)

31097677 - 33339441

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000198947 (version 78.38)

Entrez gene

1756

UniProt

P11532 (UniProt - Evidence at protein level)

neXtProt

NX_P11532

Antibodypedia

DMD antibodies


PROTEIN BROWSER

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ENST00000288447
 
ENST00000343523
 
ENST00000357033
 
ENST00000358062
 
ENST00000359836
 
ENST00000361471
 
ENST00000378677
 
ENST00000378680
 
ENST00000378702
 
ENST00000378705
 
ENST00000378707
 
ENST00000378723
 
ENST00000420596
 
ENST00000447523
 
ENST00000448370
 
ENST00000474231
 
ENST00000493412
 
ENST00000541735
 
ENST00000619831
 
ENST00000620040
 
 » 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

DMD-001 ENSP00000354923
ENST00000357033
A0A075B6G3
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Show » Show » 3685 426.8 No 0
DMD-002 ENSP00000288447
ENST00000288447
Q4G0X0
Show all »
Show » Show » 772 88.8 No 0
DMD-004 ENSP00000399897
ENST00000420596
Q14172
Show all »
Show » Show » 101 12 No 0
DMD-005 ENSP00000388559
ENST00000448370
Q8WYF6
Show all »
Show » Show » 41 5.3 No 0
DMD-006 ENSP00000367948
ENST00000378677
E9PDN5
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Show » Show » 3681 426 No 0
DMD-009 ENSP00000395904
ENST00000447523
Q14174
Show all »
Show » Show » 125 14.5 No 0
DMD-013 ENSP00000367997
ENST00000378723
P11532
Show all »
Show » Show » 635 72.2 No 0
DMD-014 ENSP00000354464
ENST00000361471
P11532
Show all »
Show » Show » 622 70.7 No 0
DMD-015 ENSP00000367974
ENST00000378702
P11532
Show all »
Show » Show » 617 70.4 No 0
DMD-016 ENSP00000417123
ENST00000474231
E7ESB2
Show all »
Show » Show » 1243 143.2 No 0
DMD-017 ENSP00000350765
ENST00000358062
H0Y304
Show all »
Show » Show » 1386 159.4 No 0
DMD-019 ENSP00000367951
ENST00000378680
P11532
Show all »
Show » Show » 525 59.8 No 0
DMD-020 ENSP00000367977
ENST00000378705
H0Y3E8
Show all »
Show » Show » 238 27.4 No 0
DMD-024 ENSP00000417725
ENST00000493412
H0Y864
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Show » 134 16.1 No 0
DMD-201 ENSP00000340057
ENST00000343523
Q14205
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Show » Show » 956 110 No 0
DMD-202 ENSP00000352894
ENST00000359836
F8VX32
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Show » Show » 1230 141.8 No 0
DMD-203 ENSP00000367979
ENST00000378707
E7EQS5
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Show » Show » 1225 141.4 No 0
DMD-204 ENSP00000444119
ENST00000541735
F5GZY3
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Show » Show » 1115 129 No 0
DMD-205 ENSP00000479270
ENST00000619831
E7EQS5
Show all »
Show » Show » 3680 426.1 No 0
DMD-206 ENSP00000478150
ENST00000620040
E7EQS5
Show all »
Show » Show » 3684 426.8 No 0