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Sgca
Gene Detail
Symbol

Name
ID
Sgca
sarcoglycan, alpha (dystrophin-associated glycoprotein)
MGI:894698
Synonyms
50DAG, adhalin, Asg
Feature Type
protein coding gene
Genetic Map
Chromosome 11
59.01 cM, cytoband C
Detailed Genetic Map ± 1 cM


Mapping data(2)
Sequence Map
Chr11:94962791-94976327 bp, - strand
From VEGA annotation of GRCm38

  13537 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:9  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 western clawed frog

Protein SuperFamily: sarcoglycan, alpha/epsilon types
Gene Tree: Sgca

Human
homologs
Human Homolog SGCA, sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
NCBI Gene ID 6442
neXtProt AC  NX_Q16586
Human Synonyms  50-DAG, A2, adhalin, ADL, DAG2, DMDA2, LGMD2D, SCARMD1
Human Chr (Location)  17q21; chr17:50165879-50175932 (+)  GRCh38
Disease Associations  (1) Diseases Associated with Human SGCA
Mutations,
alleles, and
phenotypes
All mutations/alleles(10) : Gene trapped(2) Targeted(8)
Genomic Mutations involving Sgca (1)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygous mutation of this gene results in muscle abnormalities, with decreased skeletal muscle force and stiffness and muscular dystrophy.
 
Human Diseases Modeled Using Mouse Sgca (1)    Alleles Annotated to Human Diseases(2)    Phenotype Images(1)
Interactions
Sgca interacts with 54 markers (Mir15a, Mir15b, Mir16-1, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (17 annotations)
Process membrane organization, muscle contraction, ...
Component cell-cell junction, cytoplasm, ...
Function calcium ion binding
External Resources: FuncBase
Expression
Literature Summary: (5 records)
Data Summary: Results (36)    Tissues (23)    Images (1)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 13
Northern blot 13
Western blot 2
RT-PCR 8
cDNA source data(7)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(12) Genomic(2) cDNA(7) Primer pair(2) Other(1)
Microarray probesets(5)
Other database
links
VEGA Gene ModelOTTMUSG00000001503 (Evidence)
Ensembl Gene ModelENSMUSG00000001508 (Evidence)
Entrez Gene20391 (Evidence)
DFCITC1583979
DoTSDT.485149
NIA Mouse Gene IndexU033295
Consensus CDS ProjectCCDS25266.1
International Mouse Knockout Project StatusSgca
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000001503 VEGA Gene Model | MGI Sequence Detail 13537 C57BL/6J ±  kb
transcript OTTMUST00000002975 VEGA | MGI Sequence Detail 1724 Not Applicable 
polypeptide OTTMUSP00000001460 VEGA | MGI Sequence Detail 387 Not Applicable 

For the selected sequences
All sequences(42) RefSeq(6) UniProt(5)
Polymorphisms
SNPs within 2kb(154 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR015919 Cadherin-like
InterPro IPR006644 Dystroglycan-type cadherin-like
InterPro IPR013783 Immunoglobulin-like fold
InterPro IPR008908 Sarcoglycan alphaepsilon
Protein Ontology PR:000014781 alpha-sarcoglycan
References
(Earliest) J:3426 Matsumura K, et al., Association of dystrophin-related protein with dystrophin-associated proteins in mdx mouse muscle. Nature. 1992 Dec 10;360(6404):588-91
(Latest) J:199417 Vignier N, et al., Distinctive serum miRNA profile in mouse models of striated muscular pathologies. PLoS One. 2013;8(2):e55281
All references(66)
Disease annotation references (6)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
10/21/2014
MGI 5.20
The Jackson Laboratory