GlyCosmos Portal

Submissions

dysferlin

Summary

Gene Symbol

DYSF

Organism

Homo sapiens (human)

External Links

NCBI Gene

8291

PubChem

8291

Alliance of Genome Resources

HGNC:3097

Gene Ontology (GO)

Displaying **all 4** entries
GO Term	Evidence Code	PMID
monocyte activation involved in immune response	IMP	18276788
macrophage activation involved in immune response	IMP	18276788
regulation of neurotransmitter secretion	IBA
negative regulation of phagocytosis	IMP	18276788

GO Hierarchy

biological process

immune system process [inference]

immune effector process [inference]

cell activation involved in immune response [inference]

leukocyte activation involved in immune response [inference]

myeloid cell activation involved in immune response [inference]

monocyte activation involved in immune response

macrophage activation involved in immune response

leukocyte activation [inference]

myeloid leukocyte activation [inference]

myeloid cell activation involved in immune response [inference]

monocyte activation involved in immune response

macrophage activation [inference]

macrophage activation involved in immune response

monocyte activation [inference]

monocyte activation involved in immune response

leukocyte activation involved in immune response [inference]

myeloid cell activation involved in immune response [inference]

monocyte activation involved in immune response

macrophage activation involved in immune response

cellular process [inference]

cell activation [inference]

cell activation involved in immune response [inference]

leukocyte activation involved in immune response [inference]

myeloid cell activation involved in immune response [inference]

monocyte activation involved in immune response

macrophage activation involved in immune response

leukocyte activation [inference]

myeloid leukocyte activation [inference]

myeloid cell activation involved in immune response [inference]

monocyte activation involved in immune response

macrophage activation [inference]

macrophage activation involved in immune response

monocyte activation [inference]

monocyte activation involved in immune response

leukocyte activation involved in immune response [inference]

myeloid cell activation involved in immune response [inference]

monocyte activation involved in immune response

macrophage activation involved in immune response

multicellular organismal process [inference]

cell activation [inference]

cell activation involved in immune response [inference]

leukocyte activation involved in immune response [inference]

myeloid cell activation involved in immune response [inference]

monocyte activation involved in immune response

macrophage activation involved in immune response

leukocyte activation [inference]

myeloid leukocyte activation [inference]

myeloid cell activation involved in immune response [inference]

monocyte activation involved in immune response

macrophage activation [inference]

macrophage activation involved in immune response

monocyte activation [inference]

monocyte activation involved in immune response

leukocyte activation involved in immune response [inference]

myeloid cell activation involved in immune response [inference]

monocyte activation involved in immune response

macrophage activation involved in immune response

biological regulation [inference]

regulation of biological process [inference]

regulation of signaling [inference]

regulation of trans-synaptic signaling [inference]

modulation of chemical synaptic transmission [inference]

regulation of neurotransmitter secretion

regulation of localization [inference]

regulation of transport [inference]

regulation of secretion [inference]

regulation of secretion by cell [inference]

regulation of neurotransmitter secretion

negative regulation of transport [inference]

negative regulation of endocytosis [inference]

negative regulation of phagocytosis

regulation of neurotransmitter transport [inference]

regulation of neurotransmitter secretion

regulation of vesicle-mediated transport [inference]

regulation of endocytosis [inference]

negative regulation of endocytosis [inference]

negative regulation of phagocytosis

regulation of phagocytosis [inference]

negative regulation of phagocytosis

negative regulation of biological process [inference]

negative regulation of cellular process [inference]

negative regulation of cellular component organization [inference]

negative regulation of endocytosis [inference]

negative regulation of phagocytosis

negative regulation of transport [inference]

negative regulation of endocytosis [inference]

negative regulation of phagocytosis

regulation of cellular process [inference]

regulation of cell communication [inference]

regulation of trans-synaptic signaling [inference]

modulation of chemical synaptic transmission [inference]

regulation of neurotransmitter secretion

negative regulation of cellular process [inference]

negative regulation of cellular component organization [inference]

negative regulation of endocytosis [inference]

negative regulation of phagocytosis

regulation of cellular component organization [inference]

regulation of endocytosis [inference]

negative regulation of endocytosis [inference]

negative regulation of phagocytosis

regulation of phagocytosis [inference]

negative regulation of phagocytosis

negative regulation of cellular component organization [inference]

negative regulation of endocytosis [inference]

negative regulation of phagocytosis

regulation of vesicle-mediated transport [inference]

regulation of endocytosis [inference]

negative regulation of endocytosis [inference]

negative regulation of phagocytosis

regulation of phagocytosis [inference]

negative regulation of phagocytosis

regulation of secretion by cell [inference]

regulation of neurotransmitter secretion

Displaying entries **1 - 5** of 11 in total

1

2

3

Next ›

Last »
GO Term	Evidence Code	PMID
endosome	IDA	20595382
early endosome	IDA	20595382
late endosome	IDA	20595382
plasma membrane	IDA	20595382 24239457
endocytic vesicle	IDA	20595382

GO Hierarchy

cellular component

cellular anatomical entity [inference]

membrane [inference]

plasma membrane

sarcolemma

organelle membrane [inference]

vesicle membrane [inference]

cytoplasmic vesicle membrane

transport vesicle membrane [inference]

exocytic vesicle membrane [inference]

synaptic vesicle membrane

bounding membrane of organelle [inference]

transport vesicle membrane [inference]

exocytic vesicle membrane [inference]

synaptic vesicle membrane

organelle [inference]

membrane-bounded organelle [inference]

vesicle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome

endocytic vesicle

extracellular vesicle [inference]

extracellular exosome

intracellular membrane-bounded organelle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome

endocytic vesicle

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

intracellular organelle [inference]

intracellular membrane-bounded organelle [inference]

intracellular vesicle [inference]

cytoplasmic vesicle [inference]

endosome

endocytic vesicle

extracellular organelle [inference]

extracellular membrane-bounded organelle [inference]

extracellular vesicle [inference]

extracellular exosome

Displaying **all 5** entries
GO Term	Evidence Code	PMID
calcium ion binding	IDA	24239457
calcium ion binding	IBA
protein binding	IPI	17185750 23414517 24687993 32296183
phospholipid binding	IDA	24239457
calcium-dependent phospholipid binding	IMP	11959863

GO Hierarchy

molecular function

binding [inference]

protein binding

lipid binding [inference]

phospholipid binding

calcium-dependent phospholipid binding

ion binding [inference]

cation binding [inference]

metal ion binding [inference]

calcium ion binding

Gene Ontology information from NCBI Gene and UniProt.

OrthoDB (Group)

Group level

Eukaryota

Group Name

Dysferlin

Functional Category

K: Transcription
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 2** entries
Gene Ontology
T-tubule organization
plasma membrane repair

Displaying **all 3** entries
InterPro
C2 domain superfamily
C2 domain
Ferlin family

Disease

Disease Ontology

Displaying **all 4** entries
DO ID	Disease Name	Source
DOID:0070199	Miyoshi muscular dystrophy 1	Alliance of Genome Resources
DOID:0110276	autosomal recessive limb-girdle muscular dystrophy type 2B	Alliance of Genome Resources
DOID:0111187	distal myopathy with anterior tibial onset	Alliance of Genome Resources
DOID:9884	muscular dystrophy	Alliance of Genome Resources

Ortholog

Displaying entries **1 - 10** of 68 in total

1

2

3

4

5

…

Next ›

Last »
Species	Gene ID	Alliance of Genome Resources	Orthologous MAtrix
Danio rerio	8291	ZFIN:ZDB-GENE-070501-1
Drosophila melanogaster	26509	FB:FBgn0266757
Mus musculus	26903	ZFIN:ZDB-GENE-070501-1	MOUSE49619
Drosophila melanogaster	90342	FB:FBgn0266757
Drosophila melanogaster	226101	FB:FBgn0266757
Rattus norvegicus	312492		RATNO31547
Pan troglodytes	459315		PANTR27876
Canis lupus familiaris	483121		CANLF05252
Bos taurus	508157		BOVIN02158
Danio rerio	560924		DANRE40767