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FLASH GENE

Symbol

DLX6

contributors: npt/mct - updated : 02-04-2019

HGNC name	distal-less homeobox 6
HGNC id	2919

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

Corresponding disease	DEL7Q21 chromosome 7q21 interstitial deletion SHFM1 split hand and foot malformation 1
Location	7q21.3      Physical location : 96.635.289 - 96.640.351
Synonym name	homeobox protein DLX-6
Synonym symbol(s)	MGC125282, MGC125283, MGC125285, MGC125284

DNA

TYPE	functioning gene
STRUCTURE	5.06 kb     4 Exon(s)

10 Kb 5' upstream gene genomic sequence study

motif	repetitive sequence
text structure	multiple trinucleotide repeat in the first exons (CAG/CCG)

MAPPING

cloned

Y

linked

status

provisional

Map

see EEC

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_005222 4 - 1892 NP_005213 - 293 - - 7907794

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 Cardiovascular heart         Digestive mouth         Nervous nerve spinal nerve sciatic     Reproductive female system uterus       Homo sapiens

tissue

System Tissue Tissue level 1 Tissue level 2 Level Pubmed Species Stage Rna symbol Connective bone subchondral     Epithelial barrier lining endometrium     Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Reproductive epithelial cell Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

physiological period

embryo, fetal

Text	branchial arch, otic vesicle, frontonasal ectoderm, brain, bones
	expressed in developing and mature cortical interneurons

IMPRINTING	maternally
text	maternally imprinted in osteoblasts

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains

helix-turn-helix, DNA binding domain

HOMOLOGY

interspecies

homolog to Drosophila distal less Dlx6

intraspecies

paralog to DLX5

Homologene

FAMILY

distal-less homeobox family

CATEGORY

transcription factor

SUBCELLULAR LOCALIZATION	intracellular
	intracellular,nucleus

basic FUNCTION	playing a role in forebrain and craniofacial development
	acting as an intermediary between endothelin-1 signaling and HAND2 transcription during craniofacial morphogenesis
	with DLX5, are required for development and function of somal innervating (parvalbumin(+)) neocortical interneurons
	with DLX5 are functionally equivalent in the endochondral skeleton, in that the requirement for DLX5 and DLX6 function during chondrocyte hypertrophy can be satisfied with DLX5 alone
	DLX5 and DLX6 expression determines uterine architecture and adenogenesis and is needed for implantation
	DLX5 and DLX6 are quantitatively indistinguishable on a variety of natural cis-regulatory sequences in a heterologous cellular context but observed quantitatively different transcriptional outputs in cells that normally express these genes, suggesting differential interactions with co-evolved co-activators
	DLX5/DLX6 expression is required during vertebrate posterior axis formation

CELLULAR PROCESS

nucleotide, transcription

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

binding

RNA

small molecule

protein	directly associated with TP63
	EDN1 regulates neural crest deployment and fate to form great vessels through DLX5/DLX6-independent mechanisms

cell & other

REGULATION

Other

regulated by TP63 (TP63 binds to an enhancer element in the SHFM1 locus and this element controls expression of DLX6 and possibly DLX5, both of which are important for limb development

ASSOCIATED DISORDERS

corresponding disease(s)

SHFM1 , DEL7Q21

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein Function constitutional     --low   in endometriotic lesions tumoral     --over   in endometriod adenocarcinomas

Susceptibility

to autistic spectrum disorder (ASD)

Variant & Polymorphism other	a G656A base change (R219H) associted with ASD

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS

	Dlx5/Dlx6 double mutants exhibit hindlimb ectrodactyly
	Dlx5/6-inactivation in the mouse results in a phenotype reminiscent of NTDs characterized by open thoracic and lumbar vertebral arches and failure of epaxial muscle formation at the dorsal midline