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FLASH GENE

Symbol

REPS2

contributors: mct - updated : 22-10-2013

HGNC name	RALBP1 associated Eps domain containing 2
HGNC id	9963

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_001080975 18 - 7961 NP_001074444 - 659 - 2011 21907823 NM_004726 18 - 7964 NP_004717 - 660 - 2011 21907823

EXPRESSION

Type

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 Nervous brain hindbrain cerebellum     Reproductive male system testis       Respiratory lung         Urinary kidney

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	two potential initiator methionines in its N terminus
	a central EPS15 -like domain,
	a coiled-coil domain that engage in several protein-protein interactions to coordinate the internalization of various receptors with molecular signaling
	two proline-rich regions, and the central proline rich region plays a regulatory role in epidermal growth factor receptor endocytosis by binding to 14-3-3 and SH3 domain-containing proteins
	a putative coiled-coil structure in its C terminus

HOMOLOGY

interspecies

ortholog to murine Reps2

Homologene

FAMILY

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm
	intracellular,nucleus

basic FUNCTION	complexing with RALBP1 and this complex may provide a link between tyrosine kinase, Src homology 3 (SH3)-containing protein, and RAL
	implicated in growth factor receptor-mediated endocytosis and signaling
	function as a molecular scaffold recruiting proteins involved in vesicular traffic and linking them to the actin cytoskeleton remodeling machinery
	important player in receptor-mediated endocytosis
	plays important roles in inhibiting cell proliferation, migration and in inducing apoptosis of cancer cells

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule	metal binding,
	Ca2+

protein

interacting with RALBP1 and DDEF1

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function tumoral     --low   in androgen-independent prostate cancer tumoral     --low   in esophageal squamous cell carcinoma (ESCC)

Susceptibility

Variant & Polymorphism

Candidate gene
Marker	downregulation of REPS2 represent a novel prognostic marker in esophageal squamous cell carcinoma (ESCC)
	is a potential biomarker for breast and prostate cancer
Therapy target
	System Type Disorder Pubmed cancer digestive oesophagus potential therapeutic target for ESCC patients

ANIMAL & CELL MODELS