1. Gene
  2. DLX4 - distal-less homeobox 4 Gene

DLX4 - distal-less homeobox 4 Gene

Homo sapiens

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

Gene ID: 1748 | Gene type: protein coding

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

DLX4 Protein Structure

Homeobox

Homeobox: Homeobox domain (118 - 174)

  • 0
  • 100
  • 200
  • 240 a.a.
Protein Preferred Names Protein Names

homeobox protein DLX-4

beta protein 1

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

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