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FLASH GENE

Symbol

SH3GLB2

contributors: mct/npt - updated : 21-10-2014

HGNC name	SH3-domain GRB2-like endophilin B2
HGNC id	10834

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

DNA

TYPE	functioning gene
STRUCTURE	20.56 kb     11 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_001287045 13 - 2323 NP_001273974 - 404 - 2001 11161816 NM_001287046 12 - 1763 NP_001273975 44 395 - 2001 11161816 NM_020145 11 - 2296 NP_064530 44 395 - 2001 11161816

EXPRESSION

Type	ubiquitous

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 Nervous brain basal nuclei caudate nucleus   highly   brain diencephalon thalamus   highly   brain hindbrain cerebellum   highly   spinal cord         Skin/Tegument skin

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial barrier/lining       Nervous central

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

fetal

Text

brain

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	N-terminal sequence folded into an amphipathic alpha-helix in the membrane environment, and N-BAR domain
	a coiled coil (dimerization) domain
	C-terminal SH3 domain flanking a variable intermediate region, and PLEC is a molecular partner of SH3GLB2 SH3 domain

mono polymer

homomer , heteromer , dimer

HOMOLOGY

interspecies

ortholog to murine Spas-1

intraspecies

homolog to RING3 protein

Homologene

FAMILY	endophilin-related protein family
	endophilin family of BAR and Src homology 3 domain-containing proteins

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm

basic FUNCTION	playing a regulatory role in synaptic vesicle recycling
	functions in the perinuclear organization of intermediate filaments

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	homodimer and heterodimer with SH3GLB1
	endophilin B2-plectin 1 complex functions as a membrane-anchoring device organizing and stabilizing the perinuclear network of vimentin filaments

INTERACTION

DNA

RNA

small molecule

protein	BAX apoptotic inducer
	interacts directly with plectin 1 and controls the perinuclear vimentin network
	physical and functional links between SH3GLB2 and vimentin

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --over   in gastric cancer tumoral     --over   in prostate cancer metastases

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target	potentially attractive candidate target antigen for the development of antigen-targeted immunotherapies in humans

ANIMAL & CELL MODELS