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SGCB sarcoglycan beta [ Homo sapiens (human) ]

Gene ID: 6443, updated on 28-Mar-2020

Summary

Official Symbol
SGCBprovided by HGNC
Official Full Name
sarcoglycan betaprovided by HGNC
Primary source
HGNC:HGNC:10806
See related
Ensembl:ENSG00000163069 MIM:600900
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
A3b; SGC; LGMD2E; LGMDR4
Summary
This gene encodes a member of the sarcoglycan family. Sarcoglycans are transmembrane components in the dystrophin-glycoprotein complex which help stabilize the muscle fiber membranes and link the muscle cytoskeleton to the extracellular matrix. Mutations in this gene have been associated with limb-girdle muscular dystrophy.[provided by RefSeq, Oct 2008]
Expression
Ubiquitous expression in heart (RPKM 22.7), brain (RPKM 22.7) and 23 other tissues See more
Orthologs

Genomic context

See SGCB in Genome Data Viewer
Location:
4q12
Exon count:
6
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 4 NC_000004.12 (52020706..52038299, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (52885752..52904485, complement)

Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene ribosomal protein L37a pseudogene 2 Neighboring gene leucine rich repeat containing 66 Neighboring gene long intergenic non-protein coding RNA 2480 Neighboring gene spermatogenesis associated 18

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

Protein interactions

Protein Gene Interaction Pubs
Tat tat HIV-1 Tat downregulates sarcoglycan, beta in HEK 293T cells PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cardiac muscle cell development IEA
Inferred from Electronic Annotation
more info
 
muscle fiber development IEA
Inferred from Electronic Annotation
more info
 
muscle organ development IEA
Inferred from Electronic Annotation
more info
 
vascular smooth muscle cell development IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytoplasm IEA
Inferred from Electronic Annotation
more info
 
cytoskeleton IEA
Inferred from Electronic Annotation
more info
 
dystrophin-associated glycoprotein complex IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
sarcoglycan complex IEA
Inferred from Electronic Annotation
more info
 
sarcolemma IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
beta-sarcoglycan
Names
43 kDa dystrophin-associated glycoprotein
43DAG
beta-SG
beta-sarcoglycan(43kD dystrophin-associated glycoprotein)
limb girdle muscular dystrophy 2E (non-linked families)
sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)

NCBI Reference Sequences (RefSeq)

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_008891.1 RefSeqGene

    Range
    5001..22625
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_204

mRNA and Protein(s)

  1. NM_000232.5NP_000223.1  beta-sarcoglycan

    See identical proteins and their annotated locations for NP_000223.1

    Status: REVIEWED

    Source sequence(s)
    AC093858, AK094731, BC020709, CN483961
    Consensus CDS
    CCDS3488.1
    UniProtKB/Swiss-Prot
    Q16585
    UniProtKB/TrEMBL
    Q5U0N0
    Related
    ENSP00000370839.5, ENST00000381431.9
    Conserved Domains (1) summary
    pfam04790
    Location:59302
    Sarcoglycan_1; Sarcoglycan complex subunit protein

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000004.12 Reference GRCh38.p13 Primary Assembly

    Range
    52020706..52038299 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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