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    SGCZ sarcoglycan zeta [ Homo sapiens (human) ]

    Gene ID: 137868, updated on 10-Dec-2024

    Summary

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    Official Symbol
    SGCZprovided by HGNC
    Official Full Name
    sarcoglycan zetaprovided by HGNC
    Primary source
    HGNC:HGNC:14075
    See related
    Ensembl:ENSG00000185053 MIM:608113; AllianceGenome:HGNC:14075
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    ZSG1
    Summary
    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]
    Expression
    Low expression observed in reference dataset See more
    Orthologs
    mouse all
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    Genomic context

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    See SGCZ in Genome Data Viewer
    Location:
    8p22
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (14084845..15238431, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (14350645..15504368, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (13942354..15095940, complement)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene small nuclear ribonucleoprotein polypeptide B2 pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101359 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101439 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101469 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101507 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_101563 and experimental_101568 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101599 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101611 Neighboring gene structural maintenance of chromosomes 5 pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101653 Neighboring gene uncharacterized LOC124902058 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101701 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101766 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101789 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101818 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101852 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101878 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101891 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101912 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_101932 Neighboring gene Neanderthal introgressed variant-containing enhancers experimental_102032 and experimental_102034 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102128 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102145 Neighboring gene RNA, U7 small nuclear 153 pseudogene Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102166 Neighboring gene eukaryotic translation initiation factor 4E pseudogene 5 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_102220 Neighboring gene Sharpr-MPRA regulatory region 1875 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr8:14345650-14346402 Neighboring gene NANOG hESC enhancer GRCh37_chr8:14422792-14423293 Neighboring gene RNA, U6 small nuclear 397, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:14530452-14530953 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr8:14530954-14531454 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:14660844-14661575 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr8:14660111-14660843 Neighboring gene microRNA 383 Neighboring gene H3K27ac hESC enhancer GRCh37_chr8:14995205-14995705 Neighboring gene MPRA-validated peak6913 silencer Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr8:15041688-15042887 Neighboring gene uncharacterized LOC124902059 Neighboring gene uncharacterized LOC124902060 Neighboring gene ReSE screen-validated silencer GRCh37_chr8:15341225-15341416 Neighboring gene tumor suppressor candidate 3

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Sarcoglycan subcomplex expression in normal human smooth muscle. Anastasi G, et al. J Histochem Cytochem, 2007 Aug. PMID 17438352
    2. SGCZ mutations are unlikely to be associated with myoclonus dystonia. Peall KJ, et al. Neuroscience, 2014 Jul 11. PMID 24792710
    3. Copy number variations associated with obesity-related traits in African Americans: a joint analysis between GENOA and HyperGEN. Zhao W, et al. Obesity (Silver Spring), 2012 Dec. PMID 22836685, Free PMC Article
    4. A novel locus for generalized epilepsy with febrile seizures plus in French families. Baulac S, et al. Arch Neurol, 2008 Jul. PMID 18625863
    5. Evidence for shared genetic risk between methamphetamine-induced psychosis and schizophrenia. Ikeda M, et al. Neuropsychopharmacology, 2013 Sep. PMID 23594818, Free PMC Article

    See all (18) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. No pathogenic SGCZ mutations were identified
      Title: SGCZ mutations are unlikely to be associated with myoclonus dystonia.
    2. three CNVs associated with BMI, obesity, and other obesity-related traits after adjusting for multiple testing. These CNVs overlap the PARK2, GYPA, and SGCZ genes
      Title: Copy number variations associated with obesity-related traits in African Americans: a joint analysis between GENOA and HyperGEN.
    3. Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
      Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Candidate-gene testing for orphan limb-girdle muscular dystrophies.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Evidence for shared genetic risk between methamphetamine-induced psychosis and schizophrenia.
    EBI GWAS Catalog
    Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC149397

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in cardiac muscle tissue development IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in heart contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in membrane organization TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in muscle cell cellular homeostasis TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in muscle cell development TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in cytoskeleton IEA
    Inferred from Electronic Annotation
    more info
    		  
    part_of sarcoglycan complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of sarcoglycan complex TAS
    Traceable Author Statement
    more info
    		 PubMed 
    is_active_in sarcolemma IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  

    General protein information

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    Preferred Names
    zeta-sarcoglycan
    Names
    zeta-SG

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008899.1 RefSeqGene

      Range
      5001..1153420
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_208

    mRNA and Protein(s)

    1. NM_001322879.2 → NP_001309808.1  zeta-sarcoglycan isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC020992, AC023538, AI580904, AY028700, AY502063, BC125037
      UniProtKB/TrEMBL
      Q08AT0
      Related
      ENSP00000405224.2, ENST00000421524.6
      Conserved Domains (1) summary
      pfam04790
      Location:38 → 263
      Sarcoglycan_1; Sarcoglycan complex subunit protein

    2. NM_001322880.2 → NP_001309809.1  zeta-sarcoglycan isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC020992, AC023538, AI580904, AY028700, AY502063
      UniProtKB/Swiss-Prot
      Q6REU0, Q96LD1
      Conserved Domains (1) summary
      pfam04790
      Location:38 → 256
      Sarcoglycan_1; Sarcoglycan complex subunit protein

    3. NM_001322881.2 → NP_001309810.1  zeta-sarcoglycan isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC020992, AC023538, AI580904, AY028700, AY502063
      UniProtKB/Swiss-Prot
      Q96LD1
      Conserved Domains (1) summary
      pfam04790
      Location:5 → 182
      Sarcoglycan_1; Sarcoglycan complex subunit protein

    4. NM_139167.4 → NP_631906.2  zeta-sarcoglycan isoform 1

      See identical proteins and their annotated locations for NP_631906.2

      Status: REVIEWED

      Source sequence(s)
      AC020992, AC023538, AI580904, AY028700, AY502063
      Consensus CDS
      CCDS5992.2
      UniProtKB/Swiss-Prot
      Q6REU0, Q96LD1
      Related
      ENSP00000371512.1, ENST00000382080.6
      Conserved Domains (1) summary
      pfam04790
      Location:38 → 297
      Sarcoglycan_1; Sarcoglycan complex subunit protein

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p14 Primary Assembly

      Range
      14084845..15238431 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060932.1 Alternate T2T-CHM13v2.0

      Range
      14350645..15504368 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q96LD1.1 GenPept UniProtKB/Swiss-Prot:Q96LD1

    Gene LinkOut

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