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FLASH GENE

Symbol

DMXL2

contributors: mct - updated : 22-09-2020

HGNC name	Dmx-like 2
HGNC id	2938

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

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       highly Homo sapiens Reproductive female system ovary       Homo sapiens   male system testis       Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens Reproductive germ cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

12 WD domains

HOMOLOGY

Homologene

FAMILY

CATEGORY

chaperone/stress

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,cytoplasm,cytosolic,vesicle
text	co-localized on synaptic vesicles

basic FUNCTION	scaffold molecule for both RAB3AGEP and GAP on synaptic vesicles
	having properties in Ca(2+)-dependent exocytosis (
	important role for DMXL2 and V-ATPase activity in the Notch signaling pathway in mammalian cells
	necessary for proper Notch signaling in mammalian keratinocytes
	likely influences Notch signaling through its involvement in the acidification of intracellular compartments via the V-ATPase complex
	could be involved in the maturation of neurons or glial cells afferent to GnRH neurons, but also other neuronal populations
	exerts its principal function in the testes at the onset of puberty, although its absence does not compromise male fertility in mice
	regulates v-ATPase assembly and activity and participates in intracellular signalling pathways

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component	associating with WDR7 (RAB3ABPB), formed a stable complex with rabconnectin-3beta

INTERACTION

DNA

RNA

small molecule

protein	RAB3AGAP, RAB3AGEP
	has the propensity to regulate calcium entry mediated by CACNA1B channels

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

EIEE81 , DFNA71

Susceptibility

Variant & Polymorphism

Candidate gene
Marker
Therapy target
	System Type Disorder Pubmed osteoarticular bone   role in the transduction and function of Notch signaling in mammalian cells and V-ATPase inhibitors are potential therapeutic agents to disrupt Notch signaling

ANIMAL & CELL MODELS

male mice with Dmxl2 deletions, either throughout the testes or exclusively in germ cells, presented a subtle testicular phenotype during the first wave of spermatogenesis that was clearly detectable at puberty