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Aliases for SGCZ Gene

Aliases for SGCZ Gene

  • Sarcoglycan, Zeta 2 3
  • Zeta-SG 3 4
  • ZSG1 3 4
  • Zeta-Sarcoglycan 3

External Ids for SGCZ Gene

Summaries for SGCZ Gene

Entrez Gene Summary for SGCZ Gene

  • The zeta-sarcoglycan gene measures over 465 kb and localizes to 8p22. This protein is part of the sarcoglycan complex, a group of 6 proteins. The sarcoglycans are all N-glycosylated transmembrane proteins with a short intra-cellular domain, a single transmembrane region and a large extra-cellular domain containing a carboxyl-terminal cluster with several conserved cysteine residues. The sarcoglycan complex is part of the dystrophin-associated glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extra-cellular matrix. [provided by RefSeq, Jul 2008]

GeneCards Summary for SGCZ Gene

SGCZ (Sarcoglycan, Zeta) is a Protein Coding gene. Diseases associated with SGCZ include generalized epilepsy with febrile seizures plus. An important paralog of this gene is SGCD.

UniProtKB/Swiss-Prot for SGCZ 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. May play a role in the maintenance of striated muscle membrane stability (By similarity).

Gene Wiki entry for SGCZ Gene

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

Genomics for SGCZ Gene

Genomic Location for SGCZ Gene

Start:
14,089,864 bp from pter
End:
15,238,339 bp from pter
Size:
1,148,476 bases
Orientation:
Minus strand

Genomic View for SGCZ Gene

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

RefSeq DNA sequence for SGCZ Gene

Regulatory Elements for SGCZ Gene

Proteins for SGCZ Gene

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

    Protein Symbol:
    Q96LD1-SGCZ_HUMAN
    Recommended name:
    Zeta-sarcoglycan
    Protein Accession:
    Q96LD1
    Secondary Accessions:
    • Q6REU0

    Protein attributes for SGCZ Gene

    Size:
    299 amino acids
    Molecular mass:
    32949 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for SGCZ Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SGCZ Gene

Proteomics data for SGCZ Gene at MOPED

Post-translational modifications for SGCZ Gene

  • Glycosylation at Asn62 and Asn110

Other Protein References for SGCZ Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for SGCZ Gene

Domains for SGCZ Gene

Protein Domains for SGCZ Gene

UniProtKB/Swiss-Prot:

SGCZ_HUMAN
Family:
  • Belongs to the sarcoglycan beta/delta/gamma/zeta family.:
    • Q96LD1
genes like me logo Genes that share domains with SGCZ: view

No data available for Gene Families for SGCZ Gene

Function for SGCZ Gene

Molecular function for SGCZ Gene

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. May play a role in the maintenance of striated muscle membrane stability (By similarity).

Gene Ontology (GO) - Molecular Function for SGCZ Gene

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

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for SGCZ Gene

Localization for SGCZ Gene

Subcellular locations from UniProtKB/Swiss-Prot for SGCZ Gene

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

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for SGCZ Gene COMPARTMENTS Subcellular localization image for SGCZ gene
Compartment Confidence
plasma membrane 5
cytoskeleton 2
extracellular 2
cytosol 1

Gene Ontology (GO) - Cellular Components for SGCZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005856 cytoskeleton IEA --
GO:0005886 plasma membrane --
GO:0016012 sarcoglycan complex TAS 17438352
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with SGCZ: view

Pathways for SGCZ Gene

SuperPathways for SGCZ Gene

No Data Available

Gene Ontology (GO) - Biological Process for SGCZ Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007517 muscle organ development IBA --
GO:0046716 muscle cell cellular homeostasis TAS 17438352
GO:0048738 cardiac muscle tissue development IBA --
GO:0055001 muscle cell development TAS 17438352
GO:0060047 heart contraction IBA --
genes like me logo Genes that share ontologies with SGCZ: view

No data available for Pathways by source for SGCZ Gene

Transcripts for SGCZ Gene

mRNA/cDNA for SGCZ Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(4) Selected AceView cDNA sequences:
(3) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for SGCZ Gene

Sarcoglycan, zeta:
Representative Sequences:

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

No ASD Table

Relevant External Links for SGCZ Gene

GeneLoc Exon Structure for
SGCZ
ECgene alternative splicing isoforms for
SGCZ

Expression for SGCZ Gene

mRNA expression in normal human tissues for SGCZ Gene

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

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (4.1).

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

SOURCE GeneReport for Unigene cluster for SGCZ Gene Hs.676196

genes like me logo Genes that share expressions with SGCZ: view

Orthologs for SGCZ Gene

This gene was present in the common ancestor of animals.

Orthologs for SGCZ Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia SGCZ 36
  • 99.89 (n)
  • 100 (a)
SGCZ 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia SGCZ 36
  • 91.08 (n)
  • 96.32 (a)
dog
(Canis familiaris)
Mammalia SGCZ 36
  • 93.76 (n)
  • 96.66 (a)
SGCZ 37
  • 93 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Sgcz 36
  • 90.03 (n)
  • 94.86 (a)
Sgcz 16
Sgcz 37
  • 95 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia SGCZ 37
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia SGCZ 37
  • 87 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Sgcz 36
  • 90.25 (n)
  • 95.18 (a)
chicken
(Gallus gallus)
Aves SGCZ 36
  • 83.66 (n)
  • 91.12 (a)
SGCZ 37
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia SGCZ 37
  • 89 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia sgcz 36
  • 77.74 (n)
  • 82.21 (a)
zebrafish
(Danio rerio)
Actinopterygii LOC100334126 36
  • 69.01 (n)
  • 73.91 (a)
SGCZ 37
  • 68 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Scgdelta 37
  • 26 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea sgn-1 37
  • 29 (a)
OneToMany
Species with no ortholog for SGCZ:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • 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 SGCZ Gene

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

Paralogs for SGCZ Gene

Paralogs for SGCZ Gene

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

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

Variants for SGCZ Gene

Sequence variations from dbSNP and Humsavar for SGCZ Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type MAF
rs4282 -- 14,752,883(+) AGCAC(A/T)ATCTG intron-variant
rs166533 -- 15,168,494(-) agctc(A/G)cgccc intron-variant
rs166534 -- 15,159,789(-) ATTAA(C/G)CTGAT intron-variant
rs171987 -- 15,186,222(+) gtgcc(A/C)ctgca intron-variant
rs174851 -- 15,154,978(-) atatt(C/G)aaaat intron-variant

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

Variant ID Type Subtype PubMed ID
nsv517019 CNV Gain+Loss 19592680
nsv890399 CNV Gain 21882294
nsv470190 CNV Gain 18288195
nsv465524 CNV Gain 19166990
esv259596 OTHER Complex 20981092
esv259748 OTHER Complex 20981092
esv1051749 CNV Insertion 17803354
nsv396791 CNV Insertion 16902084
nsv890410 CNV Gain 21882294
nsv890411 CNV Loss 21882294
esv2736646 CNV Deletion 23290073
esv28622 CNV Loss 19812545
esv2657342 CNV Deletion 23128226
nsv890412 CNV Loss 21882294
dgv7710n71 CNV Loss 21882294
nsv824549 CNV Loss 20364138
dgv7711n71 CNV Loss 21882294
dgv870n27 CNV Loss 19166990
nsv890417 CNV Loss 21882294
nsv890418 CNV Loss 21882294
dgv7712n71 CNV Loss 21882294
nsv890420 CNV Loss 21882294
dgv871n27 CNV Loss 19166990
nsv890422 CNV Loss 21882294
nsv818603 CNV Gain 17921354
dgv7713n71 CNV Loss 21882294
nsv507442 CNV Insertion 20534489
dgv2220e1 CNV Complex 17122850
nsv8296 CNV Loss 18304495
esv35026 CNV Loss 17911159
esv29360 CNV Loss 19812545
nsv818604 CNV Loss 17921354
nsv8297 CNV Loss 18304495
nsv890425 CNV Loss 21882294
nsv890426 CNV Loss 21882294
esv2736647 CNV Deletion 23290073
esv268848 CNV Insertion 20981092
esv272575 CNV Insertion 20981092
nsv890427 CNV Loss 21882294
esv28727 CNV Gain 19812545
esv28913 CNV Loss 19812545
dgv7714n71 CNV Loss 21882294
nsv465531 CNV Loss 19166990
nsv470191 CNV Loss 18288195
dgv872n27 CNV Loss 19166990
nsv890430 CNV Loss 21882294
nsv890431 CNV Loss 21882294
esv2661741 CNV Deletion 23128226
nsv465535 CNV Loss 19166990
nsv6086 CNV Loss 18451855
esv22173 CNV Loss 19812545
dgv2221e1 CNV Complex 17122850
nsv433245 CNV Loss 18776910
esv2421743 CNV Deletion 20811451
nsv499586 CNV Loss 21111241
dgv1273e199 CNV Deletion 23128226
esv23545 CNV Loss 19812545
nsv514475 CNV Complex 21397061
nsv442098 CNV CNV 18776908
nsv465536 CNV Loss 19166990
nsv465537 CNV Loss 19166990
nsv437048 CNV Loss 16327808
esv275224 CNV Loss 21479260
nsv824550 CNV Loss 20364138
nsv438040 CNV Loss 16468122
nsv465538 CNV Loss 19166990
nsv890432 CNV Loss 21882294
nsv890433 CNV Gain 21882294
nsv890434 CNV Loss 21882294
esv2659369 CNV Deletion 23128226
dgv7715n71 CNV Loss 21882294
dgv7716n71 CNV Loss 21882294
nsv890440 CNV Gain 21882294
nsv890441 CNV Loss 21882294
dgv2222e1 CNV Complex 17122850
nsv8298 CNV Gain+Loss 18304495
nsv890442 CNV Loss 21882294
nsv818605 CNV Loss 17921354
dgv248e55 CNV Loss 17911159
nsv438041 CNV Loss 16468122
nsv890443 CNV Loss 21882294
nsv465540 CNV Loss 19166990
nsv524332 CNV Loss 19592680
nsv890444 CNV Loss 21882294
nsv469745 CNV Loss 16826518
nsv437049 CNV Loss 16327808
nsv465541 CNV Gain 19166990
nsv890445 CNV Gain 21882294
nsv890446 CNV Gain 21882294
nsv437050 CNV Loss 16327808
dgv7717n71 CNV Loss 21882294
nsv465542 CNV Loss 19166990
nsv465543 CNV Loss 19166990
nsv890449 CNV Loss 21882294
nsv437051 CNV Loss 16327808
nsv890450 CNV Loss 21882294
nsv518542 CNV Gain 19592680
nsv465544 CNV Loss 19166990
dgv449n21 CNV Loss 19592680
nsv442099 CNV CNV 18776908
nsv514476 CNV Loss 21397061
nsv524888 CNV Loss 19592680
nsv465545 CNV Loss 19166990
nsv465546 CNV Loss 19166990
nsv525799 CNV Loss 19592680
nsv523294 CNV Loss 19592680
nsv465547 CNV Loss 19166990
nsv890451 CNV Loss 21882294
nsv890452 CNV Loss 21882294
esv2664957 CNV Deletion 23128226
nsv396378 CNV Loss 16902084
nsv465548 CNV Loss 19166990
dgv7718n71 CNV Loss 21882294
nsv437052 CNV Loss 16327808
nsv890455 CNV Loss 21882294
nsv520590 CNV Loss 19592680
esv995763 CNV Loss 20482838
dgv7719n71 CNV Loss 21882294
nsv465549 CNV Loss 19166990
esv2736648 CNV Deletion 23290073
esv2736649 CNV Deletion 23290073
esv2736650 CNV Deletion 23290073
nsv831240 CNV Gain 17160897
esv267395 CNV Insertion 20981092
nsv520906 CNV Gain 19592680
nsv519666 CNV Gain 19592680
nsv890458 CNV Gain 21882294
esv273385 CNV Insertion 20981092
esv2736652 CNV Deletion 23290073
nsv527437 CNV Loss 19592680
nsv890459 CNV Loss 21882294
dgv7720n71 CNV Loss 21882294
nsv890462 CNV Loss 21882294
esv2566045 CNV Deletion 19546169
esv2024165 CNV Deletion 18987734
esv3950 CNV Deletion 18987735
dgv241n6 CNV Loss 16902084
esv2736653 CNV Deletion 23290073
esv6670 CNV Loss 19470904
esv994811 CNV Deletion 20482838
esv1232453 CNV Deletion 17803354
dgv7721n71 CNV Loss 21882294
dgv7722n71 CNV Loss 21882294
nsv890466 CNV Loss 21882294
esv2674687 CNV Deletion 23128226
nsv890473 CNV Loss 21882294
dgv7723n71 CNV Loss 21882294
nsv890477 CNV Gain+Loss 21882294
dgv7724n71 CNV Loss 21882294
nsv465551 CNV Loss 19166990
nsv528003 CNV Loss 19592680
nsv524304 CNV Loss 19592680
esv2676987 CNV Deletion 23128226
nsv516690 CNV Loss 19592680
nsv818606 CNV Loss 17921354
esv2736654 CNV Deletion 23290073
nsv437053 CNV Loss 16327808
nsv524809 CNV Loss 19592680
esv2674136 CNV Deletion 23128226
nsv520158 CNV Loss 19592680

Relevant External Links for SGCZ Gene

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

Disorders for SGCZ Gene

Relevant External Links for SGCZ

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

No data available for UniProtKB/Swiss-Prot for SGCZ Gene

Publications for SGCZ Gene

  1. Candidate-gene testing for orphan limb-girdle muscular dystrophies. (PMID: 19472918) Aurino S. … Nigro V. (Acta Myol 2008) 3 49
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  3. Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists. (PMID: 20526338) Johnson A.D. … Becker L.C. (Nat. Genet. 2010) 3 49
  4. Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy. (PMID: 12189167) Wheeler M.T. … McNally E.M. (Hum. Mol. Genet. 2002) 2 3
  5. 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

Products for SGCZ Gene

Sources for SGCZ Gene

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