DLX3 - distal-less homeobox 3 Gene

Also Known as AI4; TDO

生物種: Homo sapiens

遺伝子タイプ: protein coding

遺伝子ID: 1747

About DLX3

Cytogenetic location: 17q21.33 Genomic coordinates (GRCh38): 17:49,990,005-49,995,224 (from NCBI)

This gene has 2 transcripts (splice variants), 264 orthologues, 9 paralogues and is associated with 4 phenotypes. Biased expression in skin (RPKM 8.6), placenta (RPKM 4.8) and 2 other tissues.

Summary

Many vertebrate homeo box-containing genes have been identified on the basis of their sequence similarity with Drosophila developmental genes. Members of the Dlx gene family contain a homeobox that is related to that of Distal-less (Dll), a gene expressed in the head and limbs of the developing fruit fly. The Distal-less (Dlx) family of genes comprises at least 6 different members, DLX1-DLX6. Trichodentoosseous syndrome (TDO), an autosomal dominant condition, has been correlated with DLX3 gene mutation. This gene is located in a tail-to-tail configuration with another member of the gene family on the long arm of chromosome 17. Mutations in this gene have been associated with the autosomal dominant conditions trichodentoosseous syndrome and amelogenesis imperfecta with taurodontism. [provided by RefSeq, Jul 2008]

DLX3 Products (1)

mRNA	Protein	Name
NM_005220.3	NP_005211.1	homeobox protein DLX-3

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	参考文献	由来
enables DNA binding	IDA IDA: Inferred from direct assay	26550823	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	26871637	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

DLX3 Protein Structure

DLL_N

Homeobox

0
100
200
287 a.a.

Protein Preferred Names	Protein Names
homeobox protein DLX-3

DLX3 Protein-protein interaction Information

Type	タンパク質名	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	参考文献
Intra	DLX3	O60479	POU4F2	Homo sapiens	Q12837	Validated Y2H	32296183
Intra	DLX3	O60479	GCM1	Homo sapiens	Q9NP62	Anti Bait CoIP	28515447
Intra	DLX3	O60479	APBB2	Homo sapiens	Q92870-2	Y2H Pooling	32814053
Intra	DLX3	O60479	APBB2	Homo sapiens	Q92870-2	Validated Y2H	32814053
Intra	DLX3	O60479	APBB2	Homo sapiens	Q92870-2	Y2H Array	32814053
Intra	DLX3	O60479	DCTN1	Homo sapiens	Q14203-5	Y2H Array	32814053
Intra	DLX3	O60479	DCTN1	Homo sapiens	Q14203-5	Y2H Pooling	32814053
Intra	DLX3	O60479	DCTN1	Homo sapiens	Q14203-5	Validated Y2H	32814053
Intra	DLX3	O60479	FGFR3	Homo sapiens	P22607	Validated Y2H	32814053
Intra	DLX3	O60479	FGFR3	Homo sapiens	P22607	Y2H Pooling	32814053
Intra	DLX3	O60479	FGFR3	Homo sapiens	P22607	Y2H Array	32814053
Intra	DLX3	O60479	HTT	Homo sapiens	P42858	Y2H Pooling	32814053
Intra	DLX3	O60479	HTT	Homo sapiens	P42858	Validated Y2H	32814053
Intra	DLX3	O60479	HTT	Homo sapiens	P42858	Y2H Array	32814053
Intra	DLX3	O60479	ATXN1	Homo sapiens	P54253	Y2H Array	32814053
Intra	DLX3	O60479	ATXN1	Homo sapiens	P54253	Y2H Pooling	32814053
Intra	DLX3	O60479	ATXN1	Homo sapiens	P54253	Validated Y2H	32814053
Intra	DLX3	O60479	SNCA	Homo sapiens	P37840	Y2H Pooling	32814053
Intra	DLX3	O60479	SNCA	Homo sapiens	P37840	Validated Y2H	32814053
Intra	DLX3	O60479	SNCA	Homo sapiens	P37840	Y2H Array	32814053

Cross: Cross-species interaction Intra: Intraspecies interaction

DLX3 抗体

製品番号	製品名	アプリケーション	反応性
HY-P83122	DLX3 Antibody (YA2867)	WB	Human, Mouse
HY-P83122A	DLX3 Antibody (YA2867)(PBS only)	WB	Human, Mouse

関連疾患

Diseases	Alias
Trichodentoosseous Syndrome	Tricho-Dento-Osseous Syndrome Tdo Syndrome Trichodontoosseous Syndrome TDO Enamel Hypoplasia And Hypocalcification With Associated Strikingly Curly Hair
Amelogenesis Imperfecta, Type Iv	AI4 Aihht Amelogenesis Imperfecta Type 4 Hypomaturation-Hypoplastic Amelogenesis Imperfecta With Taurodontism Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, With Taurodontism Amelogenesis Imperfecta Hypomaturation-Hypoplastic Type With Taurodontism Amelogenesis Imperfecta 4 Ait Amelogenesis Imperfecta 2 Hypocalcification Type Amelogenesis Imperfecta Hypomineralization Type Amelogenesis Imperfecta Type Iv Amelogenesis Imperfecta With Taurodontism
Taurodontism	Bull Teeth Large Pulp Chambers In The Molars
Amelogenesis Imperfecta	Ai Congenital Enamel Hypoplasia Al - [Amelogenesis Imperfecta]
Leiomyoma, Uterine	Uterine Leiomyoma Uterine Fibroid Uterine Fibroids Plexiform Leiomyoma UL Leiomyoma Of Corpus Uteri Uterus Fibroma
Choriocarcinoma	Chorioepithelioma
Heimler Syndrome 1	Deafness Enamel Hypoplasia Nail Defects Heimler Syndrome HMLR1 Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects Peroxisome Biogenesis Disorder 1c Pbd1c Deafness-Enamel Hypoplasia-Nail Defects Syndrome Sensorineural Hearing Loss, Enamel Hypoplasia, And Nail Abnormalities Peroxisomal Biogenesis Disorder 1c Bilateral Sensorineural Hearing Loss, Enamel Hypoplasia And Nail Defects Hearing Loss-Enamel Hypoplasia-Nail Defects Syndrome Heimler, Syndrome Heimler Syndrome, Type 1
Dental Caries	Dental Caries Extending Into Pulp Dental Caries Of Smooth Surface Dental Caries Pit And Fissure Smooth Surface Dental Caries Dental Decay Carious Teeth Dental Cavity Saprodontia Teeth Decayed Tooth Caries Tooth Decay
Amelogenesis Imperfecta, Type Iiia	Ai3 Adhcai Amelogenesis Imperfecta Type 3 AI3A Amelogenesis Imperfecta, Type Iii Amelogenesis Imperfecta, Hypocalcification Type, Autosomal Dominant Amelogenesis Imperfecta Type 3a Amelogenesis Imperfecta Hypomineralization Type Amelogenesis Imperfecta Type Iii Hypocalcified Amelogenesis Imperfecta Amelogenesis Imperfecta, Type 3 Amelogenesis Imperfecta, Hypomineralization Type Autosomal Dominant Amelogenesis Imperfecta Hypocalcification Type Amelogenesis Imperfecta 3a Amelogenesis Imperfecta Hypocalcification Type Autosomal Dominant
Pericoronitis	Operculitis
Dental Pulp Calcification	Pulp Calcification Pulp Calcifications Pulpal Calcifications Dental Pulp Stone
Kohlschutter-Tonz Syndrome	Amelocerebrohypohidrotic Syndrome KTZS Epilepsy And Yellow Teeth Kohlschutter Tonz Syndrome Kohlschutter Syndrome Epilepsy Dementia Amelogenesis Imperfecta Epilepsy-Dementia-Amelogenesis Imperfecta Syndrome Epilepsy, Dementia, And Amelogenesis Imperfecta Kohlschutter'S Syndrome Kohlschütter-Tönz Syndrome Kohlschuetter-Toenz Syndrome Presenile Dementia Dementia
Teeth Hard Tissue Disease
Cleidocranial Dysplasia	Cleidocranial Dysostosis CLCD Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only Cleidocranial Dysplasia, Forme Fruste, With Brachydactyly CCD Marie-Sainton Disease Dysplasia Cleidocranial Dento-Osseous Dysplasia Marie-Sainton Syndrome Dysplasia, Cleidocranial
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate
Ectodermal Dysplasia 10b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive	Hypohidrotic Ectodermal Dysplasia Hed Anhidrotic Ectodermal Dysplasia Ectodermal Dysplasia, Hypohidrotic Eda Christ-Siemens-Touraine Syndrome ECTD10B Ectodermal Dysplasia Anhidrotic Ectodermal Dysplasia, Anhidrotic Cst Syndrome Ectodermal Dysplasia Hypohidrotic Autosomal Recessive Dysplasia, Ectodermal, Type 10b, Hypohidrotic/Hair/Tooth, Autosomal Recessive Dysplasia, Ectodermal, Hypohidrotic Ectodermal Dysplasia 11b, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive Ectodermal Dysplasia 3, Anhidrotic Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Tooth Agenesis	Oligodontia Hypodontia Selective Tooth Agenesis Tooth Agenesis, Selective Familial Tooth Agenesis Anodontia Congenital Absence Of One Tooth
Osteoporosis	Postmenopausal Osteoporosis Osteoporosis, Postmenopausal Bone Mineral Density Quantitative Trait Locus Bmnd Osteoporosis, Involutional Osteoporosis, Susceptibility To Osteoporosis, Postmenopausal, Susceptibility Bone Mineral Density Variation Qtl, Osteoporosis OSTEOP Involutional Osteoporosis Senile Osteoporosis Osteoporosis Postmenopausal Bone Mineral Density, Quantitative Trait Locus Osteoporosis, Senile Idiopathic Osteoporosis Bone Rarefaction Nos Type 1 Osteoporosis
Brittle Bone Disorder	Osteogenesis Imperfecta Brittle Bone Disease Fragilitas Ossium Osteopsathyrosis Lobstein Disease Oi Vrolik Disease Lobstein'S Disease Lobstein'S Syndrome Vrolik'S Disease Porak And Durante Disease Glass Bone Disease Osteogenesis Imperfecta, Dominant Perinatal Lethal Osteogenesis Imperfecta, Recessive Perinatal Lethal Brittle Bone Syndrome Oi - [Osteogenesis Imperfecta] Ossium Fragility Osteitis Fragilitans Bony Fragility Blue Sclera With Fragility Of Bone And Deafness White Blue Sclera - Fragility Of Bone - Deafness
Orofacial Cleft	Cleft, Orofacial
Osteochondrodysplasia	Skeletal Dysplasia Chondrodystrophy Congenital Anomaly Of Cartilage Osteochondrodysplasias Cartilage Development Disorder Osteochondrodysplasia Syndrome Dysplasia, Skeletal Mucopolysaccharidosis Iv
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

製品番号	製品名	製品効果	純度	Rare Diseases
HY-RS03814	DLX3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21323	Dlx3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27842	Dlx3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

生物種	Symbol	由来	ID
Felis catus	DLX3	VGNC	VGNC:98905
Canis familiaris	DLX3	VGNC	VGNC:39991
Rattus norvegicus	DLX3	RGD	RGD:1304875
Mus musculus	DLX3	MGD	MGI:94903
Bos taurus	DLX3	VGNC	VGNC:55816
Macaca mulatta	DLX3	VGNC	VGNC:71930
Others	DLX3	NCBI