DYSF (dysferlin) - Rat Genome Database
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Gene: DYSF (dysferlin) Homo sapiens
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Symbol: DYSF
Name: dysferlin
RGD ID: 1322255
HGNC Page HGNC
Description: Exhibits calcium ion binding activity and calcium-dependent phospholipid binding activity. Involved in macrophage activation involved in immune response; monocyte activation involved in immune response; and negative regulation of phagocytosis. Localizes to T-tubule; centriolar satellite; and cytoplasmic vesicle. Implicated in Miyoshi muscular dystrophy 1; autosomal recessive limb-girdle muscular dystrophy type 2B; distal muscular dystrophy with anterior tibial onset; and muscular dystrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive); dystrophy-associated fer-1-like 1; dystrophy-associated fer-1-like protein; fer-1-like family member 1; fer-1-like protein 1; FER1L1; FLJ00175; FLJ90168; LGMD2B; LGMDR2; limb girdle muscular dystrophy 2B (autosomal recessive); MMD1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl271,453,722 - 71,686,768 (+)EnsemblGRCh38hg38GRCh38
GRCh38271,453,154 - 71,686,763 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37271,680,691 - 71,913,893 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36271,534,268 - 71,767,401 (+)NCBINCBI36hg18NCBI36
Build 34271,592,414 - 71,825,547NCBI
Celera271,531,488 - 71,764,393 (+)NCBI
Cytogenetic Map2p13.2NCBI
HuRef271,417,813 - 71,651,420 (+)NCBIHuRef
CHM1_1271,610,103 - 71,843,209 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model