ENSG00000108823


Homo sapiens

Features
Gene ID: ENSG00000108823
  
Biological name :SGCA
  
Synonyms : Q16586 / sarcoglycan alpha / SGCA
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: q21.33
Gene start: 50164214
Gene end: 50175931
  
Corresponding Affymetrix probe sets: 210632_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000345522
Ensembl peptide - ENSP00000422030
Ensembl peptide - ENSP00000426606
Ensembl peptide - ENSP00000426571
Ensembl peptide - ENSP00000426104
Ensembl peptide - ENSP00000423168
Ensembl peptide - ENSP00000422817
Ensembl peptide - ENSP00000262018
NCBI entrez gene - 6442     See in Manteia.
OMIM - 600119
RefSeq - XM_011525124
RefSeq - NM_000023
RefSeq - NM_001135697
RefSeq - XM_011525120
RefSeq - XM_011525121
RefSeq - XM_011525122
RefSeq - XM_011525123
RefSeq Peptide - NP_000014
RefSeq Peptide - NP_001129169
swissprot - E9PCT8
swissprot - D6RAA4
swissprot - D6R9S3
swissprot - A0A0S2Z4Q1
swissprot - A0A0S2Z4P8
swissprot - H0Y8T1
swissprot - H7C5V0
swissprot - H0YAB9
swissprot - Q16586
Ensembl - ENSG00000108823
  
Related genetic diseases (OMIM): 608099 - Muscular dystrophy, limb-girdle, type 2D, 608099
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 sgcaENSDARG00000074156Danio rerio
 SgcaENSMUSG00000001508Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
SGCE / O43556 / sarcoglycan epsilonENSG0000012799043


Protein motifs (from Interpro)
Interpro ID Name
 IPR006644  Dystroglycan-type cadherin-like
 IPR008908  Sarcoglycan alpha/epsilon
 IPR015919  Cadherin-like
 IPR028658  Alpha-sarcoglycan


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0006936 muscle contraction TAS
 biological_processGO:0007517 muscle organ development TAS
 biological_processGO:0014894 response to denervation involved in regulation of muscle adaptation IEA
 biological_processGO:0043403 skeletal muscle tissue regeneration IEA
 biological_processGO:0061024 membrane organization IBA
 cellular_componentGO:0005737 cytoplasm IEA
 cellular_componentGO:0005856 cytoskeleton IEA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0005911 cell-cell junction IEA
 cellular_componentGO:0016010 dystrophin-associated glycoprotein complex TAS
 cellular_componentGO:0016011 dystroglycan complex IEA
 cellular_componentGO:0016012 sarcoglycan complex IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0042383 sarcolemma IEA
 cellular_componentGO:0045121 membrane raft IEA
 molecular_functionGO:0005509 calcium ion binding IEA
 molecular_functionGO:0005515 protein binding IPI


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0001371 Contractures 
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 HP:0001638 Cardiomyopathy 
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 HP:0002317 Unsteady gait 
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0003236 Elevated serum creatine phosphokinase 
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 HP:0003325 Limb-girdle muscle weakness "Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis." [HPO:curators]
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 HP:0003458 EMG myopathic abnormalities "The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials." [HPO:curators]
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 HP:0003621 Juvenile onset 
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 HP:0003676 Progressive disorder 
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 HP:0003797 Limb-girdle muscle atrophy "Muscular atrophy affecting the muscles of the limb girdle." [HPO:curators]
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 HP:0003828 Variable expressivity 
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 HP:0006785 Limb-girdle muscular dystrophy "Muscular dystrophy affecting the muscles of the limb girdle (the hips and shoulders)." [HPO:curators]
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 HP:0008981 Muscular hypertrophy, esp calf muscles "Muscle hypertrophy primarily affecting the calf muscles." [HPO:curators]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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