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Aliases for SGCD Gene

Aliases for SGCD Gene

  • Sarcoglycan, Delta (35kDa Dystrophin-Associated Glycoprotein) 2 3
  • 35 KDa Dystrophin-Associated Glycoprotein 3 4
  • Delta-SG 3 4
  • CMD1L 3 6
  • 35DAG 3 4
  • SGD 3 6
  • Sarcoglycan, Delta (35kD Dystrophin-Associated Glycoprotein) 2
  • Dystrophin Associated Glycoprotein, Delta Sarcoglycan 3
  • Placental Delta Sarcoglycan 3
  • Delta-Sarcoglycan 3
  • SG-Delta 3
  • LGMD2F 6
  • SGCDP 3
  • DAGD 3

External Ids for SGCD Gene

Summaries for SGCD Gene

Entrez Gene Summary for SGCD Gene

  • The protein encoded by this gene is one of the four known components of the sarcoglycan complex, which is a subcomplex of the dystrophin-glycoprotein complex (DGC). DGC forms a link between the F-actin cytoskeleton and the extracellular matrix. This protein is expressed most abundantly in skeletal and cardiac muscle. Mutations in this gene have been associated with autosomal recessive limb-girdle muscular dystrophy and dilated cardiomyopathy. Alternatively spliced transcript variants encoding distinct isoforms have been observed for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for SGCD Gene

SGCD (Sarcoglycan, Delta (35kDa Dystrophin-Associated Glycoprotein)) is a Protein Coding gene. Diseases associated with SGCD include muscular dystrophy, limb-girdle, type 2f and cardiomyopathy, dilated, 1l. Among its related pathways are Hypertrophic cardiomyopathy (HCM) and Hypertrophic cardiomyopathy (HCM). An important paralog of this gene is SGCZ.

UniProtKB/Swiss-Prot for SGCD Gene

  • Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix

Gene Wiki entry for SGCD Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for SGCD Gene

Genomics for SGCD Gene

Genomic Location for SGCD Gene

Start:
155,870,344 bp from pter
End:
156,767,788 bp from pter
Size:
897,445 bases
Orientation:
Plus strand

Genomic View for SGCD Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for SGCD Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SGCD Gene

Regulatory Elements for SGCD Gene

Proteins for SGCD Gene

  • Protein details for SGCD Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q92629-SGCD_HUMAN
    Recommended name:
    Delta-sarcoglycan
    Protein Accession:
    Q92629
    Secondary Accessions:
    • A8K9S9
    • Q53XA5
    • Q99644

    Protein attributes for SGCD Gene

    Size:
    289 amino acids
    Molecular mass:
    32071 Da
    Quaternary structure:
    • Interacts with FLNC and DAG1. Cross-link to form 2 major subcomplexes: one consisting of SGCB, SGCD and SGCG and the other consisting of SGCB and SGCD. The association between SGCB and SGCG is particularly strong while SGCA is loosely associated with the other sarcoglycans (By similarity).

    Alternative splice isoforms for SGCD Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SGCD Gene

Proteomics data for SGCD Gene at MOPED

Post-translational modifications for SGCD Gene

Other Protein References for SGCD Gene

No data available for DME Specific Peptides for SGCD Gene

Domains for SGCD Gene

Protein Domains for SGCD Gene

Suggested Antigen Peptide Sequences for SGCD Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q92629

UniProtKB/Swiss-Prot:

SGCD_HUMAN
Family:
  • Belongs to the sarcoglycan beta/delta/gamma/zeta family.:
    • Q92629
genes like me logo Genes that share domains with SGCD: view

No data available for Gene Families for SGCD Gene

Function for SGCD Gene

Molecular function for SGCD Gene

GENATLAS Biochemistry: sarcoglycan delta,dystrophin associated protein A4D (35kDa),expressed in skeletal,cardiac muscle and vascular smooth muscle,associating with other sarcoglycans in a stoichiometrically equal complex,stabilizing the link between dystroglycan and dystrophin/utrophin
UniProtKB/Swiss-Prot Function: Component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the F-actin cytoskeleton and the extracellular matrix

Gene Ontology (GO) - Molecular Function for SGCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding --
genes like me logo Genes that share ontologies with SGCD: view
genes like me logo Genes that share phenotypes with SGCD: view

Animal Models for SGCD Gene

MGI Knock Outs for SGCD:

miRNA for SGCD Gene

miRTarBase miRNAs that target SGCD

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for SGCD Gene

Localization for SGCD Gene

Subcellular locations from UniProtKB/Swiss-Prot for SGCD Gene

Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasm, cytoskeleton.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SGCD Gene COMPARTMENTS Subcellular localization image for SGCD gene
Compartment Confidence
cytoskeleton 5
plasma membrane 5
mitochondrion 2
cytosol 1
endoplasmic reticulum 1
extracellular 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for SGCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane TAS 8842738
GO:0016010 dystrophin-associated glycoprotein complex IDA 17993586
GO:0016011 dystroglycan complex --
genes like me logo Genes that share ontologies with SGCD: view

Pathways for SGCD Gene

genes like me logo Genes that share pathways with SGCD: view

Gene Ontology (GO) - Biological Process for SGCD Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007517 muscle organ development TAS 8841194
GO:0048738 cardiac muscle tissue development IBA --
GO:0055001 muscle cell development IBA --
GO:0060047 heart contraction IBA --
GO:0061024 membrane organization IBA --
genes like me logo Genes that share ontologies with SGCD: view

Transcripts for SGCD Gene

Unigene Clusters for SGCD Gene

Sarcoglycan, delta (35kDa dystrophin-associated glycoprotein):
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for SGCD Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9
SP1: - -
SP2:
SP3:

Relevant External Links for SGCD Gene

GeneLoc Exon Structure for
SGCD
ECgene alternative splicing isoforms for
SGCD

Expression for SGCD Gene

mRNA expression in normal human tissues for SGCD Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SGCD Gene

This gene is overexpressed in Heart - Left Ventricle (6.9), Muscle - Skeletal (5.5), Heart - Atrial Appendage (4.5), and Artery - Tibial (4.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for SGCD Gene

SOURCE GeneReport for Unigene cluster for SGCD Gene Hs.387207

mRNA Expression by UniProt/SwissProt for SGCD Gene

Q92629-SGCD_HUMAN
Tissue specificity: Most strongly expressed in skeletal and cardiac muscle. Also detected in smooth muscle. Weak expression in brain and lung
genes like me logo Genes that share expressions with SGCD: view

Orthologs for SGCD Gene

This gene was present in the common ancestor of animals.

Orthologs for SGCD Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SGCD 35
  • 99.31 (n)
  • 100 (a)
SGCD 36
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SGCD 35
  • 93.43 (n)
  • 97.92 (a)
SGCD 36
  • 98 (a)
OneToOne
dog
(Canis familiaris)
Mammalia SGCD 35
  • 93.43 (n)
  • 98.27 (a)
SGCD 36
  • 98 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sgcd 35
  • 90.31 (n)
  • 94.46 (a)
Sgcd 16
Sgcd 36
  • 94 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SGCD 36
  • 93 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 94 (a)
OneToMany
-- 36
  • 89 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Sgcd 35
  • 90.54 (n)
  • 94.81 (a)
chicken
(Gallus gallus)
Aves SGCD 35
  • 81.83 (n)
  • 86.11 (a)
SGCD 36
  • 85 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SGCD 36
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sgcd 35
  • 72.92 (n)
  • 79.86 (a)
zebrafish
(Danio rerio)
Actinopterygii Dr.27561 35
sgcd 35
  • 70.13 (n)
  • 72.66 (a)
sgcd 36
  • 72 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000073 35
  • 47.4 (n)
  • 41.06 (a)
fruit fly
(Drosophila melanogaster)
Insecta Scgdelta 35
  • 48.38 (n)
  • 40.79 (a)
Scgdelta 36
  • 25 (a)
OneToMany
Scgdgr 37
  • 39 (a)
worm
(Caenorhabditis elegans)
Secernentea sgn-1 35
  • 46.31 (n)
  • 36.43 (a)
sgn-1 36
  • 29 (a)
OneToMany
sgn-1 37
  • 35 (a)
Species with no ortholog for SGCD:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for SGCD Gene

ENSEMBL:
Gene Tree for SGCD (if available)
TreeFam:
Gene Tree for SGCD (if available)

Paralogs for SGCD Gene

Paralogs for SGCD Gene

Selected SIMAP similar genes for SGCD Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with SGCD: view

Variants for SGCD Gene

Sequence variations from dbSNP and Humsavar for SGCD Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs30273 -- 156,231,796(-) ATGTT(A/G)TACAT intron-variant
rs30274 -- 156,234,733(-) GAAAA(G/T)TATAA intron-variant
rs30275 -- 156,236,016(-) CATAT(C/G)TTTTC intron-variant
rs30276 -- 156,222,784(-) AATTG(C/T)ATCTT intron-variant
rs30277 -- 156,221,670(-) TCTCC(A/C)ATAAT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for SGCD Gene

Variant ID Type Subtype PubMed ID
nsv830522 CNV Gain 17160897
esv2668032 CNV Deletion 23128226
esv2675002 CNV Deletion 23128226
esv27446 CNV Loss 19812545
nsv830523 CNV Gain 17160897
esv273222 CNV Insertion 20981092
nsv830524 CNV Gain 17160897
esv33782 CNV Gain+Loss 17666407
esv33006 CNV Gain 17666407
esv2657305 CNV Deletion 23128226
nsv883062 CNV Loss 21882294

Relevant External Links for SGCD Gene

HapMap Linkage Disequilibrium report
SGCD
Human Gene Mutation Database (HGMD)
SGCD
Locus Specific Mutation Databases (LSDB)
SGCD

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SGCD Gene

Disorders for SGCD Gene

(2) OMIM Diseases for SGCD Gene (601411)

UniProtKB/Swiss-Prot

SGCD_HUMAN
  • Limb-girdle muscular dystrophy 2F (LGMD2F) [MIM:601287]: An autosomal recessive degenerative myopathy initially affecting the proximal limb girdle musculature. Muscle from patients shows a complete loss of delta-sarcoglycan as well as of the others components of the sarcoglycan complex. {ECO:0000269 PubMed:9832045}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, dilated 1L (CMD1L) [MIM:606685]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:10974018}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for SGCD Gene

(2) Novoseek inferred disease relationships for SGCD Gene

Disease -log(P) Hits PubMed IDs
muscular dystrophies 74.2 2
muscular dystrophy duchenne 55.9 3

Relevant External Links for SGCD

GeneTests
SGCD
GeneReviews
SGCD
Genetic Association Database (GAD)
SGCD
Human Genome Epidemiology (HuGE) Navigator
SGCD
genes like me logo Genes that share disorders with SGCD: view

Publications for SGCD Gene

  1. Mutations in the human delta-sarcoglycan gene in familial and sporadic dilated cardiomyopathy. (PMID: 10974018) Tsubata S. … Towbin J.A. (J. Clin. Invest. 2000) 2 3 4
  2. Filamin 2 (FLN2): a muscle-specific sarcoglycan interacting protein. (PMID: 10629222) Thompson T.G. … Kunkel L.M. (J. Cell Biol. 2000) 3 4
  3. Characterization of delta-sarcoglycan, a novel component of the oligomeric sarcoglycan complex involved in limb-girdle muscular dystrophy. (PMID: 8943294) Jung D. … Campbell K.P. (J. Biol. Chem. 1996) 3 4
  4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  5. Impact of delta-sarcoglycan gene polymorphism on the occurrence of coronary spastic angina in Japanese patients with hypertrophic cardiomyopathy. (PMID: 17652892) Honda T. … Ogawa H. (Circ. J. 2007) 3 48

Products for SGCD Gene

Sources for SGCD Gene

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