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SGCZ sarcoglycan zeta [ Homo sapiens (human) ]

Gene ID: 137868, updated on 5-Mar-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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Location:
8p22
Exon count:
8
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 8 NC_000008.11 (14084845..15238431, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 8 NC_060932.1 (14350645..15504368, complement)
105.20220307 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. SGCZ mutations are unlikely to be associated with myoclonus dystonia. Peall KJ, et al. Neuroscience, 2014 Jul 11. PMID 24792710
  2. 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
  3. A novel locus for generalized epilepsy with febrile seizures plus in French families. Baulac S, et al. Arch Neurol, 2008 Jul. PMID 18625863
  4. Sarcoglycan subcomplex expression in normal human smooth muscle. Anastasi G, et al. J Histochem Cytochem, 2007 Aug. PMID 17438352
  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)

Genotypes

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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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/TrEMBL
    Q08AT0
    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/TrEMBL
    Q08AT0
    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_2023_10

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

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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