DYSF

GENERAL INFORMATION

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Gene name

DYSF

Gene description

Dysferlin

Protein class

Disease related genes
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

Membrane

Number of transcripts

11
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Mixed
GTEx:Expressed in all

Protein evidence

Evidence at protein level

Protein localization

Selective cytoplasmic expression, most abundant in muscle cells, hematopoietic cells, placental trophoblasts and endothelial cells.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Supportive based on 3 antibodies.
HPA017071 , HPA021945 , CAB002510
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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

Liver

Colon

Kidney

Testis

Placenta



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:  Expressed in all

Organ

Expression



GENE INFORMATION

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Gene name

DYSF (HGNC Symbol)

Synonyms

FER1L1, LGMD2B

Description

Dysferlin (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]

Chromosome

2

Cytoband

p13.2

Chromosome location (bp)

71453722 - 71686768

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000135636 (version 78.38)

Entrez gene

8291

UniProt

O75923 (UniProt - Evidence at protein level)

neXtProt

NX_O75923

Antibodypedia

DYSF antibodies


PROTEIN BROWSER

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ENST00000258104
 
ENST00000394120
 
ENST00000409366
 
ENST00000409582
 
ENST00000409651
 
ENST00000409744
 
ENST00000409762
 
ENST00000410020
 
ENST00000410041
 
ENST00000413539
 
ENST00000429174
 
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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)

DYSF-001 ENSP00000258104
ENST00000258104
O75923
Show all »
Show » Show » 2080 237.3 No 1
DYSF-002 ENSP00000386683
ENST00000409651
O75923
Show all »
Show » Show » 2112 240.7 No 1
DYSF-003 ENSP00000377678
ENST00000394120
O75923
Show all »
Show » Show » 2081 237.4 No 1
DYSF-004 ENSP00000387137
ENST00000409762
O75923
Show all »
Show » Show » 2097 239.3 No 1
DYSF-005 ENSP00000386285
ENST00000409744
O75923
Show all »
Show » Show » 2088 238 No 1
DYSF-006 ENSP00000386512
ENST00000409366
O75923
Show all »
Show » Show » 2102 239.4 No 1
DYSF-007 ENSP00000386881
ENST00000410020
O75923
Show all »
Show » Show » 2119 241.4 No 1
DYSF-009 ENSP00000386617
ENST00000410041
O75923
Show all »
Show » Show » 2098 239.4 No 1
DYSF-011 ENSP00000386547
ENST00000409582
O75923
Show all »
Show » Show » 2118 241.3 No 1
DYSF-020 ENSP00000398305
ENST00000429174
O75923
Show all »
Show » Show » 2101 239.3 No 1
DYSF-021 ENSP00000407046
ENST00000413539
O75923
Show all »
Show » Show » 2111 240.6 No 1