ENSG00000006377


Homo sapiens

Features
Gene ID: ENSG00000006377
  
Biological name :DLX6
  
Synonyms : distal-less homeobox 6 / DLX6 / P56179
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: 1
Band: q21.3
Gene start: 97005548
Gene end: 97011039
  
Corresponding Affymetrix probe sets: 221289_at (Human Genome U133 Plus 2.0 Array)   239309_at (Human Genome U133 Plus 2.0 Array)   242940_x_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000428480
Ensembl peptide - ENSP00000451635
NCBI entrez gene - 1750     See in Manteia.
OMIM - 600030
RefSeq - NM_005222
RefSeq Peptide - NP_005213
swissprot - P56179
swissprot - G3V471
Ensembl - ENSG00000006377
  

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 dlx6aENSDARG00000042291Danio rerio
 DLX6ENSGALG00000023195Gallus gallus
 Dlx6ENSMUSG00000029754Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
DLX1 / P56177 / distal-less homeobox 1ENSG0000014435551
DLX4 / Q92988 / distal-less homeobox 4ENSG0000010881335
DLX2 / Q07687 / distal-less homeobox 2ENSG0000011584434
DLX5 / P56178 / distal-less homeobox 5ENSG0000010588034
DLX3 / O60479 / distal-less homeobox 3ENSG0000006419532
MSX2 / P35548 / msh homeobox 2ENSG0000012014919
MSX1 / P28360 / msh homeobox 1ENSG0000016313219


Protein motifs (from Interpro)
Interpro ID Name
 IPR000047  Helix-turn-helix motif
 IPR001356  Homeobox domain
 IPR009057  Homeobox-like domain superfamily
 IPR017970  Homeobox, conserved site
 IPR020479  Homeobox domain, metazoa


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001501 skeletal system development TAS
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development TAS
 biological_processGO:0030326 embryonic limb morphogenesis IEA
 biological_processGO:0030855 epithelial cell differentiation IEA
 biological_processGO:0042472 inner ear morphogenesis IEA
 biological_processGO:0048646 anatomical structure formation involved in morphogenesis IEA
 biological_processGO:0050679 positive regulation of epithelial cell proliferation IEA
 biological_processGO:0060021 roof of mouth development IEA
 biological_processGO:0060322 head development IEA
 cellular_componentGO:0005634 nucleus IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity TAS
 molecular_functionGO:0043565 sequence-specific DNA binding IEA


Pathways (from Reactome)
Pathway description
Regulation of RUNX2 expression and activity


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
Show

 HP:0000526 Aniridia "Congenital absence of the iris." [HPO:curators]
Show

 HP:0001171 Ectrodactyly (hands) 
Show

 HP:0004050 Absent hands 
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 HP:0006101 Finger syndactyly "Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are revered to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are refered to as "Symphalangism"." [HPO:curators]
Show

 HP:0012165 Oligodactyly "A developmental defect resulting in the presence of fewer than the normal number of digits." [HPO:probinson]
Show

  


Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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