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sarcoglycan alpha

Summary

Gene Symbol

SGCA

Organism

Homo sapiens (human)

External Links

NCBI Gene

6442

PubChem

6442

Alliance of Genome Resources

HGNC:10805

JoGo

SGCA

TogoVar

SGCA

Annotation

Keyword

Alternative splicing
Cell membrane
Cytoskeleton
Disease variant
Glycoprotein
Limb-girdle muscular dystrophy
Phosphoprotein
Proteomics identification
Reference proteome
Signal
Transmembrane helix

Proteins

Displaying **all 3** entries
UniProt	Protein Name
Q16586	50 kDa dystrophin-associated glycoprotein Adhalin Dystroglycan-2
A0A0S2Z4Q1
A0A0S2Z4P8

Annotation information from UniProt.

Gene Ontology (GO)

Displaying **all 4** entries
GO Term	Evidence Code	PMID
muscle contraction	TAS	8069911
muscle organ development	TAS	7663524
response to denervation involved in regulation of muscle adaptation	IEA
skeletal muscle tissue regeneration	IEA

GO Hierarchy

biological process

multicellular organismal process [inference]

system process [inference]

muscle system process [inference]

muscle contraction

developmental process [inference]

anatomical structure development [inference]

regeneration [inference]

tissue regeneration [inference]

skeletal muscle tissue regeneration

animal organ development [inference]

muscle organ development

muscle structure development [inference]

muscle organ development

growth [inference]

developmental growth [inference]

tissue regeneration [inference]

skeletal muscle tissue regeneration

response to stimulus [inference]

response to inactivity [inference]

response to muscle inactivity [inference]

response to muscle inactivity involved in regulation of muscle adaptation [inference]

response to denervation involved in regulation of muscle adaptation

response to stimulus involved in regulation of muscle adaptation [inference]

response to muscle inactivity involved in regulation of muscle adaptation [inference]

response to denervation involved in regulation of muscle adaptation

Displaying entries **1 - 5** of 7 in total

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GO Term	Evidence Code	PMID
cytoplasm	IEA
cytoskeleton	IEA
cell-cell junction	IEA
dystrophin-associated glycoprotein complex	TAS	7937874
sarcoglycan complex	IBA

GO Hierarchy

cellular component

protein-containing complex [inference]

glycoprotein complex [inference]

dystrophin-associated glycoprotein complex

membrane protein complex [inference]

plasma membrane protein complex [inference]

cellular anatomical entity [inference]

cytoplasm

membrane [inference]

plasma membrane [inference]

sarcolemma

membrane microdomain [inference]

membrane raft

cell junction [inference]

anchoring junction [inference]

cell-cell junction

organelle [inference]

non-membrane-bounded organelle [inference]

intracellular non-membrane-bounded organelle [inference]

cytoskeleton

intracellular organelle [inference]

intracellular non-membrane-bounded organelle [inference]

cytoskeleton

Displaying **all 2** entries
GO Term	Evidence Code	PMID
calcium ion binding	IEA
protein binding	IPI	21516116 25416956 25910212 26871637 32296183 32814053

GO Hierarchy

molecular function

binding [inference]

protein 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

sarcoglycan epsilon

Functional Category

J: Translation, ribosomal structure and biogenesis
O: Posttranslational modification, protein turnover, chaperones
T: Signal transduction mechanisms

Displaying **all 4** entries
InterPro
Dystroglycan-type cadherin-like
Sarcoglycan alpha/epsilon second domain
Sarcoglycan alpha/epsilon, N-terminal domain
Sarcoglycan alpha/epsilon

Disease

Disease Ontology

Displaying **all 2** entries
DO ID	Disease Name	Source
DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D	Alliance of Genome Resources
DOID:9884	muscular dystrophy	Alliance of Genome Resources