SGCZ sarcoglycan zeta [Homo sapiens (human)] - Gene

Summary

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

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_000008.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

No pathogenic SGCZ mutations were identified
Title: SGCZ mutations are unlikely to be associated with myoclonus dystonia.
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.
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.
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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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 EBI GWAS CatalogPubMed
Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists. EBI GWAS Catalog EBI GWAS CatalogPubMed
Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

SHGC-83174 (e-PCR)
- UniSTS:100870

SHGC-85044 (e-PCR)
- UniSTS:103433

G32147 (e-PCR)
- UniSTS:81679

RH119371 (e-PCR)
- UniSTS:132911

D8S1827 (e-PCR), detects polymorphism
- UniSTS:43060

WI-1021 (e-PCR)
- UniSTS:826

WI-10386 (e-PCR)
- UniSTS:80187

SHGC-110274 (e-PCR)
- UniSTS:167753

D8S1647 (e-PCR)
- UniSTS:30045

RH122193 (e-PCR)
- UniSTS:134753

G09307 (e-PCR)
- UniSTS:58983

SHGC-82100 (e-PCR)
- UniSTS:103026

NoName (e-PCR)
- UniSTS:481146

SHGC-68946 (e-PCR)
- UniSTS:170107

RH120955 (e-PCR)
- UniSTS:134032

SHGC-82986 (e-PCR)
- UniSTS:101270

RH122264 (e-PCR)
- UniSTS:134812

RH120369 (e-PCR)
- UniSTS:132510

SHGC-146940 (e-PCR)
- UniSTS:175518

ATT070 (e-PCR)
- UniSTS:498592

SHGC-150709 (e-PCR)
- UniSTS:173243

G59476 (e-PCR)
- UniSTS:136640

SHGC-110519 (e-PCR)
- UniSTS:167879

D8S511 (e-PCR), detects polymorphism
- UniSTS:41681

SHGC-78879 (e-PCR)
- UniSTS:95721

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.