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FLASH GENE

Symbol

LLGL2

contributors: mct/npt - updated : 25-02-2008

HGNC name	lethal giant larvae homolog 2 (Drosophila)
HGNC id	6629

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Location	17q25.1      Physical location : 73.521.782 - 73.571.289
Synonym name	human giant larvae homolog
	lethal giant larvae homolog 2
Synonym symbol(s)	HGL, HUGL-2, LGL2, LGL

DNA

TYPE	functioning gene
STRUCTURE	49.51 kb     26 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence	Promoter
	cytosine-phosphate-guanine/HTF
	Binding site   transcription factor
text structure	a high basal promoter activity in different cell lines and primary human hepatocytes with a GC-rich region important for this activity
	putative binding sites for several transcription factors including Elk-1, EGF and Sp-1 ( EGF as a suppressor and Sp-1 transcription factor as an activator of its expression)

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_004524 25 - 3547 NP_004515 - 1015 - Spaderna (2008) NM_001015002 10 - 1440 NP_001015002 - 356 - Spaderna (2008) NM_001031803 26 - 3590 NP_001026973 - 1020 - Spaderna (2008)

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 blood / hematopoietic spleen         Digestive intestine large intestine colon   highly   stomach       highly Endocrine pancreas       highly Reproductive ovary

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Epithelial secretory glandular endocrine   Lymphoid

cells

System Cell Pubmed Species Stage Rna symbol Digestive epithelial cell

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

interspecies	homolog to Drosophila DLG1(lethal giant larvae 1)
	homolog to C.elegans C52A11.4

Homologene

FAMILY

WD repeat L(2)GL family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION

plasma membrane

basic FUNCTION

playing an essential role in control of cell proliferation and differentiation during development

CELLULAR PROCESS	cell life, proliferation/growth
	cell organization/biogenesis

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

interacting with ZEB1 (suppresses the expression of cell polarity factors, in particular of LLGL2, which we found reduced in colorectal and breast cancers) (Spaderna 2008)

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Susceptibility

to ischemic stroke

Variant & Polymorphism SNP	rs1671021 (T-->C, Phe479Leu) were significantly associated with ischemic stroke (Hamada 2010)

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS