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FLASH GENE

Symbol

SGCD

contributors: npt/ - updated : 13-07-2006

HGNC name	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
HGNC id	10807

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	LGMD2F limb girdle muscular dystrophy 2F
Location	5q33.3      Physical location : 155.753.766 - 156.194.796
Synonym name	35kD dystrophin-associated glycoprotein
	delta-sarcoglycan
	dystrophin associated glycoprotein, delta sarcoglycan
	placental delta sarcoglycan
Synonym symbol(s)	DAG35, DAGD, DAPA4D, CMD1L, SGD, 35DAG, CMD1L, DAGD, MGC22567, SG-delta, SGCDP

DNA

TYPE	functioning gene
STRUCTURE	441.03 kb     8 Exon(s)

10 Kb 5' upstream gene genomic sequence study

motif	Viral sequence   long terminal repeat
text structure	specific HERV-K LTR within intron 5

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed SGCD1 - variant 1 - - 9805 - 290 - Passeos-Bueno SGCD2 - variant 2 - - 1576 - 256 - Passeos-Bueno variant 3 - - 9759 32 289 - -

EXPRESSION

Type

widely

constitutive of

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 heart       highly Endocrine neuroendocrine pituitary     highly Nervous brain         Respiratory lung

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective adipose     highly Connective bone       Connective cartilage       Muscular smooth       Muscular striatum cardiac     Muscular striatum skeletal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal, pregnancy

Text	heart, uterus

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	small intracellular domain
	a single transmembrane hydrophobic domain
	large extracellular C terminus with four cysteine residues

conjugated

GlycoP

HOMOLOGY

interspecies

homolog to murine Sgcd

Homologene

FAMILY

sarcoglycan beta/delta/gamma family

CATEGORY

structural protein

SUBCELLULAR LOCALIZATION	plasma membrane
text	sarcolemmal type 2 membrane protein

basic FUNCTION

forming a link between the f-actin cytoskeleton and the extracellular matrix

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

associating with other sarcoglycans and sarcospan in a stoichiometrically equal complex, stabilizing the link between dystroglycan and dystrophin/utrophin

INTERACTION

DNA

RNA

small molecule

protein	dystrophin binding
	utrophin DP116, SGCE and SGCB in the Schwann cell membrane

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

LGMD2F

related resource

Limb-Girdle Muscular Dystrophy, Type 2F

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS