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FLASH GENE

Symbol

DNM3

contributors: mct - updated : 04-11-2014

HGNC name	dynamin 3
HGNC id	29125

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL1QM chromosome 1q interstitial deletions
Location	1q24.3      Physical location : 171.810.620 - 172.381.856
Synonym name	KIAA0820 protein
	dynamin, testicular
	T-dynamin
	T-dynamin
	dynamin family member
Synonym symbol(s)	Dyna III, KIAA0820, MGC70433
EC.number	3.6.5.5

DNA

TYPE	functioning gene
STRUCTURE	571.24 kb     21 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_001136127 20 - 7647 NP_001129599 - 859 - - NM_015569 21 - 7659 NP_056384 - 863 - -

EXPRESSION

Type	restricted

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       specific Homo sapiens Visual eye retina       Mus musculus

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Mus musculus Visual cone photoreceptor Mus musculus

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

a pleckstrin homology (PH) domain that binds phosphoinositides and this interaction appears to be crucial for its function (Bethoney 2009)

HOMOLOGY

Homologene

FAMILY	dynamin family
	super-family of large GTPase proteins

CATEGORY

adhesion , enzyme , regulatory

SUBCELLULAR LOCALIZATION	extracellular
	intracellular
	intracellular,cytoplasm,cytosolic,ribosome
text	is present in the terminals of photoreceptors and dendrites of second-order neurons but is most pronounced in the inner plexiform layer where second-order neurons relay signals from photoreceptors

basic FUNCTION	may be involved in vesicular trafficking processes, in
	particular endocytosis
	DNM1, DNM2, DNM3, decode action potential firing for synaptic vesicle recycling
	GTPase protein that polymerise during their biological activity

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

cellular trafficking transport

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

DEL1QM

Susceptibility

Variant & Polymorphism

Candidate gene	for the cognitive disability in del 1q25q25 microdeletion syndrome
Marker
Therapy target

ANIMAL & CELL MODELS