1. Gene
  2. DLX6 - distal-less homeobox 6 Gene

DLX6 - distal-less homeobox 6 Gene

Homo sapiens
Gene ID: 1750 | Gene type: protein coding

About DLX6

Cytogenetic location: 7q21.3 Genomic coordinates (GRCh38): 7:97,005,553-97,011,040 (from NCBI)

This gene has 3 transcripts (splice variants), 204 orthologues, 9 paralogues and is associated with 1 phenotype. Biased expression in testis (RPKM 2.2), placenta (RPKM 2.1) and 5 other tissues.

Summary

This gene encodes a member of a homeobox transcription factor gene family similiar to the Drosophila distal-less gene. This family is comprised of at least 6 different members that encode proteins with roles in forebrain and craniofacial development. This gene is in a tail-to-tail configuration with another member of the family on the long arm of chromosome 7. [provided by RefSeq, Jul 2008]

DLX6 Products(1)

mRNA Protein Name
NM_005222.4 NP_005213.3 homeobox protein DLX-6

DLX6 Protein Structure

Homeobox

Homeobox: Homeobox domain (168 - 224)

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

homeobox protein DLX-6

distal-less homeo box 6

Related Diseases

Diseases Alias
Isolated Split Hand-Split Foot Malformation

Ectrodactyly

Shfm

Split Hand Foot Malformation

Split-Hand/Foot Malformation

Split Hand Foot Deformity 1

Split Hand Foot Deformity

Rett Syndrome

Atypical Rett Syndrome

RTT

Rett Disorder

Rts

Autism, Dementia, Ataxia, And Loss Of Purposeful Hand Use

Rett Syndrome, Preserved Speech Variant

Rett Syndrome, Atypical

Rett'S Disorder

Rett Syndrome Variant

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use Syndrome

Cerebroatrophic Hyperammonemia

Rett Like Syndrome

Rett'S Syndrome

Atypical Rtt

Autism-Dementia-Ataxia-Loss Of Purposeful Hand Use

Rett Syndrome Preserved Speech Variant

Rett Syndrome Zappella Variant

Rett Syndrome, Zappella Variant

Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss, Autosomal Recessive

Split Hand-Foot Malformation 1 With Sensorineural Hearing Loss

SHFM1D

Deafness, Congenital, With Split Hands And Feet

Split-Hand/Foot Malformation 1 With Sensorineural Hearing Loss

Congenital Deafness With Split Hands And Feet

Split Hand-Split Foot-Deafness Syndrome

Split Hand-Split Foot-Hearing Loss Syndrome

Congenital Deafness And Split Hands And Feet

Split-Hand/Foot Malformation, Type 1 With Sensorineural Hearing Loss

Split-Hand-Foot Malformation With Sensorineural Hearing Loss

Split-Hand/Foot Malformation 4

SHFM4

Split Hand-Foot Malformation 4

Split-Hand/Foot Malformation, Type 4

Orofacial Cleft 4

OFC4

Cleft Lip With Or Without Cleft Palate, Nonsyndromic, 4

Nonsyndromic Cleft Lip With Or Without Cleft Palate 4

Split-Hand/Foot Malformation 6

Split Hand-Foot Malformation 6

SHFM6

Ectrodactyly, Autosomal Recessive

Ectrodactyly Autosomal Recessive

Split-Hand/Foot Malformation, Type 6

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 3

EEC3

Eec Syndrome 3

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome, Type 3

Split-Hand/Foot Malformation 5

Split Hand-Foot Malformation 5

SHFM5

Split-Hand/Foot Malformation 2

SHFM2

Shfd2

Shsf2

Split Hand/Foot Malformation 2

Split Hand-Foot Malformation 2

Split-Hand/Split-Foot Anomaly, X-Linked

Split-Hand/Foot Deformity 2

Split Hand/Foot Malformation X-Linked

Split Hand Foot Anomaly - X-Linked

Split Hand Foot Deformity 2

Syngnathia

Cleft Palate-Lateral Synechia Syndrome

Cpls Syndrome

Cleft Palate Lateral Synechia Syndrome

Split-Hand/Foot Malformation 3

SHFM3

Split Hand-Foot Malformation 3

Chromosome 10q24 Duplication Syndrome

Shsf3

Limb Deficiencies, Distal, With Micrognathia

Split-Hand/Foot Malformation 3, Gene Duplication Syndrome

Distal Limb Deficiencies With Micrognathia

Limb Deficiencies Distal With Micrognathia

Buttiens Fryns Syndrome

Distal Limb Deficiencies-Micrognathia Syndrome

10q24 Microduplication Syndrome

Buttiens-Fryns Syndrome

Split-Hand/Foot Malformation, Type 3, Gene Duplication Syndrome

Agnathia-Otocephaly Complex

Otocephaly

Holoprosencephaly-Agnathia

Dysgnathia Complex Agnathia-Holoprosencephaly

AGOTC

Agnathia-Holoprosencephaly-Situs Inversus Syndrome

Dysgnathia Complex

Agnathia-Holoprosencephaly

Cervical Auricle

Split Hand-Foot Malformation

Ectrodactyly

Split-Hand/Foot Malformation

Lobster-Claw Deformity

Split-Hand Deformity

Split Hand Foot Malformation

Shfm

Split Hand Foot Deformity

Split Hand Foot Deformity 1

Trichodentoosseous Syndrome

Tricho-Dento-Osseous Syndrome

Tdo Syndrome

Trichodontoosseous Syndrome

TDO

Enamel Hypoplasia And Hypocalcification With Associated Strikingly Curly Hair

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate

Hay-Wells Syndrome

Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome

Aec Syndrome

AEC

Ankyloblepharon-Ectodermal Defects-Cleft Lip And Palate Syndrome

Seres-Santamaria Arimany Muniz Syndrome

Cleft Palate, Ankyloblepharon, Alveolar Synechiae, And Ectodermal Defects

Ankyloblepharon Ectodermal Defects Cleft Lip/Palate

Ankyloblepharon-Ectodermal Defect-Cleft Lip/Palate

Rapp-Hodgkin Syndrome

Cleft Palate, Isolated

Cleft Palate

Isolated Cleft Palate

CPI

Cp

Palatoschisis

Cleft Palate Isolated

Uranostaphyloschisis

Congenital Fissure Of Palate

Cleft Of Secondary Palate

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1

Eec Syndrome

Rudiger Syndrome 1

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 1

EEC1

Eec Syndrome 1

Eec Syndrome-1

Walker-Clodius Syndrome

Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome

Eec

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome

Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

Ectrodactyly-Cleft Lip/Palate Syndrome

Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/Cleft Palate

Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome

Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome

Ectrodactyly-Cleft Lip-Palate Syndrome

Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome

Glass Syndrome

Chromosome 2q32-Q33 Deletion Syndrome

Satb2-Associated Syndrome

2q33.1 Microdeletion Syndrome

Sas

2q32-Q33 Microdeletion Syndrome

2q32q33 Microdeletion Syndrome

Monosomy 2q32

Monosomy 2q32-Q33

Monosomy 2q32q33

2q32 Deletion Syndrome

Del(2)(Q32)

Del(2)(Q32q33)

GLASS

2q32q33 Microdeletion Syndromes

Satb2 Syndrome

Satb2-Associated Syndrome Due To A Chromosomal Rearrangement

Del(2)(Q33.1)

Monosomy 2q33.1

Satb2-Associated Syndrome Due To A Pathogenic Variant

Satb2-Associated Syndrome Due To A Point Mutation

Satb2 Associated Disorder

Orofacial Cleft

Cleft, Orofacial

Chromosome 2q35 Duplication Syndrome

Syndactyly

Syndactyly Type 1

Sdty1

Zygodactyly

Syndactyly, Type I

Sd1

Syndactyly, Type 1, With Or Without Craniosynostosis

Symphalangism

Non-Syndromic Syndactyly

Symphalangy

Webbing Of Digits

Syndactyly, Type 1

Tooth Agenesis

Oligodontia

Hypodontia

Selective Tooth Agenesis

Tooth Agenesis, Selective

Familial Tooth Agenesis

Anodontia

Congenital Absence Of One Tooth

Williams-Beuren Syndrome

Williams Syndrome

WBS

Wms

Deletion 7q11.23

Monosomy 7q11.23

Chromosome 7q11.23 Deletion Syndrome, 1.5- To 1.8-Mb

Fanconi Schlesinger Syndrome

Beuren Syndrome

Elfin Facies Syndrome

Elfin Facies With Hypercalcemia

Hypercalcemia-Supravalvar Aortic Stenosis

Ws

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
Felis catus DLX6 VGNC VGNC:78439
Canis familiaris DLX6 VGNC VGNC:54763
Bos taurus DLX6 VGNC VGNC:28102
Rattus norvegicus DLX6 RGD RGD:1561539
Mus musculus DLX6 MGD MGI:101927