DLX4 - distal-less homeobox 4 Gene

Also Known as BP1; DLX7; DLX8; DLX9; OFC15

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 1748

About DLX4

Cytogenetic location: 17q21.33 Genomic coordinates (GRCh38): 17:49,968,572-49,974,959 (from NCBI)

This gene has 6 transcripts (splice variants), 453 orthologues, 9 paralogues and is associated with 2 phenotypes. Biased expression in placenta (RPKM 1.9), skin (RPKM 0.3) and 3 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. The DLX proteins are postulated to play a role in forebrain and craniofacial development. Three transcript variants have been described for this gene, however, the full length nature of one variant has not been described. Studies of the two splice variants revealed that one encoded isoform functions as a repressor of the beta-globin gene while the Other isoform lacks that function. [provided by RefSeq, Jul 2008]

DLX4 Products (2)

mRNA	Protein	Name
NM_001934.4	NP_001925.2	homeobox protein DLX-4 isoform b
NM_138281.3	NP_612138.1	homeobox protein DLX-4 isoform a

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	11909945	GOA
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA IDA: Inferred from direct assay	11909945	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	17474147	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	9073066	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in negative regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	11909945	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

DLX4 Protein Structure

Homeobox

0
100
200
240 a.a.

Protein Preferred Names	Protein Names
homeobox protein DLX-4	beta protein 1

DLX4 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	DLX4	Q92988	SP1	Homo sapiens	P08047	Pull Down	21297662
Intra	DLX4	Q92988	SMAD4	Homo sapiens	Q13485	Anti Bait CoIP	21297662
Intra	DLX4	Q92988	SMAD4	Homo sapiens	Q13485	Pull Down	21297662
Intra	DLX4	Q92988	NCK1	Homo sapiens	P16333	Peptide Array	17474147

Cross: Cross-species interaction Intra: Intraspecies interaction

DLX4 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P82952	DLX4 Antibody (YA2697)	WB, ICC/IF, IP	Human, Rat

Related Diseases

Diseases	Alias
Orofacial Cleft 15	OFC15 Non-Syndromic Orofacial Cleft 15
Cleft Lip/Palate	Cleft Lip And Palate Alveolar Cleft Lip And Palate Cleft Lip-Alveolus-Palate Syndrome Flp
Trichodentoosseous Syndrome	Tricho-Dento-Osseous Syndrome Tdo Syndrome Trichodontoosseous Syndrome TDO Enamel Hypoplasia And Hypocalcification With Associated Strikingly Curly Hair
Cleft Lip	Cheiloschisis Labium Leporinum Cleft Lip, Unilateral, Complete Complete Unilateral Cleft Lip Hare Lip Congenital Fissure Of Lip Isolated Cleft Lip Cleft Lip Without Cleft Palate Cleft Lip Without Cleft Palate, Unilateral Isolated Cleft Lip, Unilateral Cleft Lip Without Cleft Palate, Bilateral Isolated Cleft Lip, Bilateral
Orofacial Cleft	Cleft, Orofacial
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
Choriocarcinoma	Chorioepithelioma
Blepharocheilodontic Syndrome 1	Blepharocheilodontic Syndrome Bcd Syndrome Elschnig Syndrome Clefting, Ectropion, And Conical Teeth Lagophthalmia With Bilateral Cleft Lip And Palate Blepharo-Cheilo-Odontic Syndrome Bcds Ectropion, Inferior, With Cleft Lip And/Or Palate Blepharo-Cheilo-Dontic Syndrome BCDS1 Ectropion Inferior Cleft Lip And Or Palate Clefting-Ectropion-Conical Teeth Syndrome Ectropion Inferior-Cleft Lip And/Or Palate Syndrome Lagophthalmia-Cleft Lip And Palate Syndrome Blepharocheilodontic Syndrome, Type 1
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies
Lagophthalmos	Defective Lid Closure Poor Closure Eyelids
Cleft Palate, Isolated	Cleft Palate Isolated Cleft Palate CPI Cp Palatoschisis Cleft Palate Isolated Uranostaphyloschisis Congenital Fissure Of Palate Cleft Of Secondary Palate

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)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS03815	DLX4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22139	Dlx4 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28660	Dlx4 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	DLX4	RGD	RGD:1308744
Bos taurus	DLX4	VGNC	VGNC:28100
Mus musculus	DLX4	MGD	MGI:94904
Felis catus	DLX4	VGNC	VGNC:61523
Macaca mulatta	DLX4	VGNC	VGNC:99142
Canis familiaris	DLX4	VGNC	VGNC:53207
Others	DLX4	NCBI