SGCB

SGCB

Identifiers

SGCB, A3b, LGMD2E, SGC, sarcoglycan beta, LGMDR4

External IDs

OMIM: 600900; MGI: 1346523; HomoloGene: 195; GeneCards: SGCB; OMA:SGCB - orthologs

Gene location (Human)

Chr.	Chromosome 4 (human)^[1]

Band	4q12	Start	52,020,706 bp^[1]
Band	4q12	End	52,038,299 bp^[1]

Gene location (Mouse)

Chr.	Chromosome 5 (mouse)^[2]

Band	5\|5 C3.3	Start	73,790,092 bp^[2]
Band	5\|5 C3.3	End	73,805,133 bp^[2]

RNA expression pattern

Human

Mouse (ortholog)

Top expressed in

tendon of biceps brachii

Skeletal muscle tissue of rectus abdominis

Skeletal muscle tissue of biceps brachii

right ventricle

ganglionic eminence

internal globus pallidus

trigeminal ganglion

ventricular zone

sperm

tibia

Top expressed in

triceps brachii muscle

temporal muscle

sternocleidomastoid muscle

right ventricle

digastric muscle

ankle

muscle of thigh

myocardium of ventricle

intercostal muscle

quadriceps femoris muscle

More reference expression data


More reference expression data

Species

Human

Mouse


6443


24051


ENSG00000163069


ENSMUSG00000029156


Q16585 Q5U0N0


P82349

RefSeq (mRNA)


NM_000232


NM_011890

RefSeq (protein)


NP_000223 NP_000223.1


NP_036020

Location (UCSC)

Chr 4: 52.02 – 52.04 Mb

Chr 5: 73.79 – 73.81 Mb

PubMed search

^[3]

^[4]

View/Edit Human

View/Edit Mouse

Beta-sarcoglycan is a protein that in humans is encoded by the SGCB gene.^[5]^[6]

The dystrophin-glycoprotein complex (DGC) is a multisubunit protein complex that spans the sarcolemma and provides structural linkage between the subsarcolemmal cytoskeleton and the extracellular matrix of muscle cells. There are 3 main subcomplexes of the DGC: the cytoplasmic proteins dystrophin (DMD; MIM 300377) and syntrophin (SNTA1; MIM 601017), the alpha- and beta-dystroglycans (see MIM 128239), and the sarcoglycans (see, e.g., SGCA; MIM 600119) (Crosbie et al., 2000).[supplied by OMIM].^[6]

Clinical significance

Mutations in the SGCB gene are known to cause Limb-girdle muscular dystrophy, autosomal recessive 4 (LGMDR4).^[7] This condition causes pelvic and shoulder muscle wasting, usually from childhood.

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000163069 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000029156 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Bonnemann CG, Passos-Bueno MR, McNally EM, Vainzof M, de Sa Moreira E, Marie SK, Pavanello RC, Noguchi S, Ozawa E, Zatz M, Kunkel LM (Mar 1997). "Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E)". Hum Mol Genet. 5 (12): 1953–61. doi:10.1093/hmg/5.12.1953. PMID 8968749.
^ ^a ^b "Entrez Gene: SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)".
^ "UniProt". www.uniprot.org. Retrieved 2023-11-22.

Further reading

Yoshida M, Ozawa E (1991). "Glycoprotein complex anchoring dystrophin to sarcolemma". J. Biochem. 108 (5): 748–52. doi:10.1093/oxfordjournals.jbchem.a123276. PMID 2081733.
Lim LE, Duclos F, Broux O, et al. (1995). "Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12". Nat. Genet. 11 (3): 257–65. doi:10.1038/ng1195-257. PMID 7581448. S2CID 729999.
Bönnemann CG, Modi R, Noguchi S, et al. (1995). "Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex". Nat. Genet. 11 (3): 266–73. doi:10.1038/ng1195-266. PMID 7581449. S2CID 13130455.
Duggan DJ, Gorospe JR, Fanin M, et al. (1997). "Mutations in the sarcoglycan genes in patients with myopathy". N. Engl. J. Med. 336 (9): 618–24. doi:10.1056/NEJM199702273360904. PMID 9032047.
Fougerousse F, Durand M, Suel L, et al. (1998). "Expression of genes (CAPN3, SGCA, SGCB, and TTN) involved in progressive muscular dystrophies during early human development". Genomics. 48 (2): 145–56. doi:10.1006/geno.1997.5160. PMID 9521867.
Duclos F, Broux O, Bourg N, et al. (1998). "Beta-sarcoglycan: genomic analysis and identification of a novel missense mutation in the LGMD2E Amish isolate". Neuromuscul. Disord. 8 (1): 30–8. doi:10.1016/S0960-8966(97)00135-1. PMID 9565988. S2CID 6206714.
Bönnemann CG, Wong J, Ben Hamida C, et al. (1998). "LGMD 2E in Tunisia is caused by a homozygous missense mutation in beta-sarcoglycan exon 3". Neuromuscul. Disord. 8 (3–4): 193–7. doi:10.1016/S0960-8966(98)00014-5. PMID 9631401. S2CID 22059919.
Chan YM, Bönnemann CG, Lidov HG, Kunkel LM (1999). "Molecular organization of sarcoglycan complex in mouse myotubes in culture". J. Cell Biol. 143 (7): 2033–44. doi:10.1083/jcb.143.7.2033. PMC 2175228. PMID 9864373.
dos Santos MR, Jorge P, Ribeiro EM, et al. (2000). "Noval mutation (Y184C) in exon 4 of the beta-sarcoglycan gene identified in a Portuguese patient. Mutations in brief no. 177. Online". Hum. Mutat. 12 (3): 214–5. PMID 10660328.
Barresi R, Di Blasi C, Negri T, et al. (2000). "Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutations". J. Med. Genet. 37 (2): 102–7. doi:10.1136/jmg.37.2.102. PMC 1734518. PMID 10662809.
Durbeej M, Cohn RD, Hrstka RF, et al. (2000). "Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E" (PDF). Mol. Cell. 5 (1): 141–51. doi:10.1016/S1097-2765(00)80410-4. PMID 10678176.
Yoshida M, Hama H, Ishikawa-Sakurai M, et al. (2000). "Biochemical evidence for association of dystrobrevin with the sarcoglycan-sarcospan complex as a basis for understanding sarcoglycanopathy". Hum. Mol. Genet. 9 (7): 1033–40. doi:10.1093/hmg/9.7.1033. PMID 10767327.
Fanin M, Hoffman EP, Angelini C, Pegoraro E (2000). "Private beta- and gamma-sarcoglycan gene mutations: evidence of a founder effect in Northern Italy". Hum. Mutat. 16 (1): 13–7. doi:10.1002/1098-1004(200007)16:1<13::AID-HUMU3>3.0.CO;2-V. PMID 10874299. S2CID 44664935.
Radojevic V, Lin S, Burgunder JM (2000). "Differential expression of dystrophin, utrophin, and dystrophin-associated proteins in human muscle culture". Cell Tissue Res. 300 (3): 447–57. doi:10.1007/s004410000213. PMID 10928275. S2CID 12001595.
Crosbie RH, Lim LE, Moore SA, et al. (2000). "Molecular and genetic characterization of sarcospan: insights into sarcoglycan-sarcospan interactions". Hum. Mol. Genet. 9 (13): 2019–27. doi:10.1093/hmg/9.13.2019. PMID 10942431.
Barresi R, Moore SA, Stolle CA, et al. (2001). "Expression of gamma -sarcoglycan in smooth muscle and its interaction with the smooth muscle sarcoglycan-sarcospan complex". J. Biol. Chem. 275 (49): 38554–60. doi:10.1074/jbc.M007799200. PMID 10993904.
Wakayama Y, Inoue M, Kojima H, et al. (2002). "Localization of sarcoglycan, neuronal nitric oxide synthase, beta-dystroglycan, and dystrophin molecules in normal skeletal myofiber: triple immunogold labeling electron microscopy". Microsc. Res. Tech. 55 (3): 154–63. doi:10.1002/jemt.1166. PMID 11747090. S2CID 22683866.
Fanin M, Angelini C (2002). "Defective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubes". Neuropathol. Appl. Neurobiol. 28 (3): 190–9. doi:10.1046/j.1365-2990.2002.00389.x. PMID 12060343. S2CID 32274307.
Wheeler MT, Zarnegar S, McNally EM (2003). "Zeta-sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy". Hum. Mol. Genet. 11 (18): 2147–54. doi:10.1093/hmg/11.18.2147. PMID 12189167.

External links

LOVD mutation database: SGCB

Striated
muscle

Skeletal
muscle

Costamere/
DAPC

Membrane/
extracellular

DAP:	Sarcoglycan SGCA SGCB SGCD SGCE SGCG SGCZ Dystroglycan
Sarcospan Laminin, alpha 2

Intracellular

Dystrophin Dystrobrevin A B Syntrophin A B1 B2 G1 G2 Syncoilin Dysbindin Synemin/desmuslin
related:	NOS1 Caveolin 3

Sarcomere/
(a, i, and h bands;
z and m lines)

Myofilament

Tropomyosin

Troponin
- T
- C
- I

Connective tissue

General

Both

Fiber	Muscle fiber intrafusal extrafusal Myofibril Microfilament/Myofilament Sarcomere
Cells	Myoblast/Muscle cell Myosatellite cell
Other	Desmin Sarcoplasm Sarcolemma T-tubule Sarcoplasmic reticulum

Other/
ungrouped

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