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FLASH GENE

Symbol

SGCG

contributors: mct - updated : 14-12-2021

HGNC name	sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
HGNC id	10809

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LGMD2C limb girdle muscular dystrophy 2C
Location	13q12.12      Physical location : 23.755.059 - 23.899.304
Synonym name	35 kDa dystrophin-associated glycoprotein
	Maghrebian myopathy (autosomal recessive)
	gamma sarcoglycan
Synonym symbol(s)	35DAG, DAGA4, LGMD2C, DAPA4, DAPA4G,A4, MAM, DMDA, SCG3, TYPE, DMDA1, SCARMD2, MGC130048

DNA

TYPE	functioning gene
STRUCTURE	164.65 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001378245 9 - 1696 NP_001365174 32.2 291 - 2020 31682967 NM_001378246 9 - 1745 NP_001365175 32.2 291 - 2020 31682967 NM_000231 8 - 1594 NP_000222 32.2 291 - 2020 31682967

EXPRESSION

Type	restricted

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular vessel         Homo sapiens Nervous brain         Homo sapiens Reproductive female system breast mammary gland

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular smooth vessel     Homo sapiens Muscular striatum cardiac     Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	the cytoplasmic and extracellular domains each contain 1 phosphorylation site
	an extracellular C terminus

conjugated

GlycoP

HOMOLOGY

interspecies	ortholog to murine Sgcg
	homolog to rattus Rn.7061
	homolog to Drosophila Scg&dgr;
	homolog to C.elegans sgn-1

Homologene

FAMILY

sarcoglycan beta/delta/gamma family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm,cytoskeleton
text	sarcolemma
	type II membrane protein

basic FUNCTION	providing a link between the membrane associated cytoskeleton and the extracellular matrix
	stabilizing the link between dystroglycan and dystrophin/utrophin
	integral membrane protein responsible for maintaining the integrity of the muscle cell sarcolemma

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

development

text	muscle development

PATHWAY

metabolism

signaling

a component	associating with other sarcoglycans and sarcospan in a stochiometrically equal complex
	component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex which forms a link between the f-actin cytoskeleton and the extracellular matrix
	vital component of the Dystrophin Complex, which together facilitate normal muscle function

INTERACTION

DNA

RNA

small molecule

protein	binding to dystrophin and SNTA1
	SGCG is expressed in the cerebrovascular system and is specifically regulated by astroglial GJB6 channels

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

LGMD2C

related resource

Sarcoglycan database

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS