DLX6 - distal-less homeobox 6 Gene

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 1750

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
Molecular Function GO Annotation Evidence References Source
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

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
Others DLX6 NCBI