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FLASH GENE

Symbol

DLX2

contributors: mct - updated : 03-06-2018

HGNC name	distal-less homeobox 2
HGNC id	2915

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL2Q31 chromosome 2q interstitial deletion, including 2q31.1
Location	2q31.1      Physical location : 172.964.166 - 172.967.478
Synonym name	homeobox protein DLX-2
Synonym symbol(s)	TES1, TES-1

DNA

TYPE	functioning gene
STRUCTURE	3.31 kb     3 Exon(s)

10 Kb 5' upstream gene genomic sequence study

MAPPING

cloned

Y

linked

N

status

confirmed

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_004405 3 - 2308 NP_004396 - 328 - 1996 8812481

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 Digestive pharynx         Endocrine thyroid         Reproductive female system ovary

cells

System Cell Pubmed Species Stage Rna symbol Nervous neuron Homo sapiens Fetal

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

pregnancy

Text	forebrain, facial and limb primordia

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	helix-turn-helix, DNA binding domain
	a homeobox related to Distal-less (Dll) of drosophila

HOMOLOGY

interspecies	homolog to Drosophila distal less Dlx2
	ortholog to murine Dlx2
	homolog to C.elegans Y113G7A.6B

Homologene

FAMILY

distal-less homeobox family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	playing a role in forebrain and craniofacial development
	playing a role during retinal cell differentiation and survival
	in hippocampal precursors DLX2 promoted neurogenesis but not neural stem cell activation
	is one critical player in shifting TGFB from its tumour suppressive to its tumour-promoting functions
	may be involved in tumor progression via the regulation of metabolic stress-induced necrosis
	plays crucial roles in the development of the cranial neural crest stem cells derived craniofacial skeleton
	HELT and DLX2 are key transcription factors that are sufficient to direct neuronal progenitors along a specific differentiation pathway at the expense of alternative lineage choices
	DLX1/DLX2 homeobox genes regulate GABA synthesis during forebrain development through direct activation of glutamic acid decarboxylase enzyme isoforms that convert glutamate to GABA
	DLX1 and DLX2 promote interneuron GABA synthesis, synaptogenesis, and dendritogenesis

CELLULAR PROCESS

nucleotide, transcription, regulation

PHYSIOLOGICAL PROCESS

development

text	forebrain and craniofacial development

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	binding to BMP2 for the signaling to the COL2A1 in chondroblasts
	binds to a specific region of the NTRK2 promoter in retinal neuroepithelium during embryogenesis (directly binds and activates transcription of a NTRK2 regulatory element)
	DLX2 and EGFR signalling interact at multiple levels to coordinate proliferation in the postnatal subventricular zone
	OLIG1 is an essential repressor of DLX1/DLX2 and interneuron production in developing mammalian brain
	DLX2 expression reduces the protein components of the TTI1/TTI2/TELO2 complex, a key complex required for the proper folding and stabilization of ATM and other members of the PIKK (phosphatidylinositol 3-kinase-related kinase) family kinase
	bone morphogenetic protein signaling mediated by ACVR1 and DLX2 regulates apoptosis in glioma-initiating cells
	DLX1 and DLX2 were reduced after SMG6 deletion

cell & other

REGULATION

activated by

PITX2 (for early tooth development)

ASSOCIATED DISORDERS

corresponding disease(s)

DEL2Q31

Susceptibility

to autism spectrum disorders

Variant & Polymorphism SNP	increasing the risk of autism spectrum disorders

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS