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FLASH GENE

Symbol

RAB3GAP2

contributors: mct - updated : 24-08-2011

HGNC name	RAB3 GTPase activating protein subunit 2 (non-catalytic)
HGNC id	17168

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	CMRH cataract-mental retardation-hypogonadism
Location	1q41      Physical location : 220.321.609 - 220.445.843
Synonym name	rab3 GTPase-activating protein, non-catalytic subunit (RAB3-GAP150)
Synonym symbol(s)	FLJ14579, KIAA0839, RAB3-GAP150, RAB3GAP150, p150

DNA

TYPE	functioning gene
STRUCTURE	124.23 kb     35 Exon(s)

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_012414 35 - 7329 - 1393 - 1998 9733780

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 Digestive esophagus       highly Endocrine thyroid       highly Hearing/Equilibrium ear       highly

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

HOMOLOGY

Homologene

FAMILY

RAB3 protein family

CATEGORY

regulatory

SUBCELLULAR LOCALIZATION	extracellular
	plasma membrane
	intracellular
	intracellular,cytoplasm,cytosolic

basic FUNCTION	regulatory subunit of a gtpase activating protein that has specificity for RAB3 subfamily (RAB3a, RAB3b, RAB3c and RAB3d), involved in regulated exocytosis of neurotransmitters and hormones
	having a key role in neurodevelopment
	with RAB3GAP1 encode the catalytic and noncatalytic subunits of the hetrodimeric enzyme RAB3GAP (RAB3GTPase-activating protein), a key regulator of the RAB3 cycle

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

heterodimer composed of RAB3GAP and RAB3-GAP150

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

CMRH

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS