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FLASH GENE

Symbol

RIN2

contributors: mct/npt/pgu - updated : 27-02-2013

HGNC name	Ras and Rab interactor 2
HGNC id	18750

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	MACS macrocephaly, alopecia, cutis laxa, and scoliosis
Location	20p11.23      Physical location : 19.870.209 - 19.983.100
Synonym name	RAS inhibitor JC265
	RAS association domain family 4
	RAS interaction/interference protein 2
	RAS association (RalGDS/AF-6) domain containing protein JC265
	Rab5 GDP/GTP exchange factor
	RAB5 interacting protein 2
	Ras interaction/interference protein 2
Synonym symbol(s)	RASSF4, MACS

DNA

TYPE	functioning gene
SPECIAL FEATURE	arranged in tandem
STRUCTURE	115.94 kb     11 Exon(s)

10 Kb 5' upstream gene genomic sequence study

regulatory sequence
text structure	a Kozak consensus sequence

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_018993 11 - 4259 NP_061866 - 895 - 2006 16423831 NM_001242581 12 - 4525 NP_001229510 - 944 - 2006 16423831

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 Cardiovascular heart       highly Endocrine placenta         Lymphoid/Immune spleen       lowly Reproductive female system uterus       Respiratory lung         Urinary kidney       highly

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Muscular striatum skeletal

cells

System Cell Pubmed Species Stage Rna symbol Blood/Hematopoietic leukocyte Nervous glia

cell lineage
cell lines	Hela, N-1321 astrocytoma cells
fluid/secretion

at STAGE

physiological period

pregnancy

Text

placenta

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a SH2 domain
	two proline-rich motifs
	a Vps9 domain
	a Ras association (RA) domain

mono polymer

homomer , tetramer , complex

HOMOLOGY

interspecies	homolog to murine Rin2
	homolog to rattus LOC311494

Homologene

FAMILY

RIN (Ras interacting/interference) family

CATEGORY

chaperone/stress

SUBCELLULAR LOCALIZATION	plasma membrane
	intracellular
	intracellular,cytoplasm

basic FUNCTION	GTPase activator activity
	functions as a guanine-nucleotide exchange factor (GEF), required for the activation of the Rab5 protein and/or may be a downstream effector of RAB5
	connects Ras to Rab5 in the HGF-induced endocytosis of E-cadherin
	involved in the regulation of endocytic trafficking
	is a key effector that in endothelial cells interacts with and mediates the pro-adhesive and -angiogenic activity of RRAS

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

endocytosis transport

text	intracellular signaling cascade

PATHWAY

metabolism

signaling

a component

RRas/RIN2/RAB5A complex controls endothelial cell adhesion and morphogenesis via active integrin endocytosis and RAC1 signaling

INTERACTION

DNA

RNA

small molecule

protein	interacts preferentially with GTP-bound form of RAB5
	interacting with Ras
	RIN1, RIN2, RIN3 serve as guanine nucleotide exchange factors for RAB5A
	connects three GTPases, RRas, RAB5A and RAC1, to promote endothelial cell adhesion through the regulation of integrin internalization and RAC1 activation

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

MACS

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS