DYSF (dysferlin)

2003-12-01  

Identity

HGNC
DYSF
LOCATION
2p13.2
LOCUSID
8291
ALIAS
FER1L1,LGMD2B,LGMDR2,MMD1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 8291
MIM: 603009
HGNC: 3097
Ensembl: ENSG00000135636

Variants:

dbSNP: 8291
ClinVar: 8291
TCGA: ENSG00000135636
COSMIC: DYSF

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135636ENST00000258104O75923
ENSG00000135636ENST00000394120O75923
ENSG00000135636ENST00000409366O75923
ENSG00000135636ENST00000409582O75923
ENSG00000135636ENST00000409651O75923
ENSG00000135636ENST00000409744O75923
ENSG00000135636ENST00000409762O75923
ENSG00000135636ENST00000410020O75923
ENSG00000135636ENST00000410041O75923
ENSG00000135636ENST00000413539O75923
ENSG00000135636ENST00000429174O75923

Expression (GTEx)

0
50
100
150
200
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Muscle contractionREACTOMER-HSA-397014
Smooth Muscle ContractionREACTOMER-HSA-445355

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
374345852023Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin.0
381103002023Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb-girdle muscular dystrophy.1
374345852023Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin.0
381103002023Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb-girdle muscular dystrophy.1
354608892022DYSF promotes monocyte activation in atherosclerotic cardiovascular disease as a DNA methylation-driven gene.9
359625502022Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.2
354608892022DYSF promotes monocyte activation in atherosclerotic cardiovascular disease as a DNA methylation-driven gene.9
359625502022Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.2
332156902021Null variants in DYSF result in earlier symptom onset.2
339273792021Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients.8
339876862021Frequent DYSF rare variants/mutations in 152 Han Chinese samples with ovarian endometriosis.0
345599192021Molecular landscape of DYSF mutations in dysferlinopathy: From a Chinese multicenter analysis to a worldwide perspective.5
332156902021Null variants in DYSF result in earlier symptom onset.2
339273792021Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients.8
339876862021Frequent DYSF rare variants/mutations in 152 Han Chinese samples with ovarian endometriosis.0

Citation

Dessen P

DYSF (dysferlin)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/40381/teaching-explorer/haematological-explorer/js/web-card-gene.js