ENSG00000105880


Homo sapiens

Features
Gene ID: ENSG00000105880
  
Biological name :DLX5
  
Synonyms : distal-less homeobox 5 / DLX5 / P56178
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 7
Strand: -1
Band: q21.3
Gene start: 97020392
Gene end: 97024950
  
Corresponding Affymetrix probe sets: 213707_s_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000222598
Ensembl peptide - ENSP00000475008
NCBI entrez gene - 1749     See in Manteia.
OMIM - 600028
RefSeq - XM_017011803
RefSeq - NM_005221
RefSeq - XM_005250185
RefSeq Peptide - NP_005212
swissprot - Q53Y73
swissprot - P56178
Ensembl - ENSG00000105880
  
Related genetic diseases (OMIM): 220600 - ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600

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
 dlx5aENSDARG00000042296Danio rerio
 DLX5ENSGALG00000009129Gallus gallus
 Dlx5ENSMUSG00000029755Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
DLX3 / O60479 / distal-less homeobox 3ENSG0000006419554
DLX2 / Q07687 / distal-less homeobox 2ENSG0000011584450
DLX6 / P56179 / distal-less homeobox 6ENSG0000000637735
DLX1 / P56177 / distal-less homeobox 1ENSG0000014435534
DLX4 / Q92988 / distal-less homeobox 4ENSG0000010881330
MSX1 / P28360 / msh homeobox 1ENSG0000016313221
MSX2 / P35548 / msh homeobox 2ENSG0000012014919


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
 IPR022135  Distal-less-like homeobox protein, N-terminal domain


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001501 skeletal system development TAS
 biological_processGO:0001503 ossification IEA
 biological_processGO:0001649 osteoblast differentiation ISS
 biological_processGO:0001958 endochondral ossification ISS
 biological_processGO:0006351 transcription, DNA-templated IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007399 nervous system development TAS
 biological_processGO:0007409 axonogenesis IEA
 biological_processGO:0007411 axon guidance IEA
 biological_processGO:0008283 cell proliferation IDA
 biological_processGO:0010628 positive regulation of gene expression IEA
 biological_processGO:0021889 olfactory bulb interneuron differentiation IEA
 biological_processGO:0030326 embryonic limb morphogenesis IEA
 biological_processGO:0030509 BMP signaling pathway ISS
 biological_processGO:0030855 epithelial cell differentiation IEA
 biological_processGO:0042472 inner ear morphogenesis IEA
 biological_processGO:0043583 ear development IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IDA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II 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:0060166 olfactory pit development IEA
 biological_processGO:0060322 head development IEA
 biological_processGO:0060325 face morphogenesis IEA
 biological_processGO:0060349 bone morphogenesis IEA
 biological_processGO:0071773 cellular response to BMP stimulus ISS
 biological_processGO:0090263 positive regulation of canonical Wnt signaling pathway IEA
 biological_processGO:0097376 interneuron axon guidance IEA
 biological_processGO:1901522 positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus ISS
 cellular_componentGO:0000790 nuclear chromatin ISS
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005737 cytoplasm IEA
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding ISS
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001077 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding ISS
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA
 molecular_functionGO:0044212 transcription regulatory region DNA binding IDA
 molecular_functionGO:0071837 HMG box domain binding IEA


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


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000407 Hearing loss, sensorineural "Hearing loss caused by damage or dysfunction of the auditory nerve (cranial nerve VIII)." [HPO:curators]
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 HP:0000526 Aniridia "Congenital absence of the iris." [HPO:curators]
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 HP:0001171 Ectrodactyly (hands) 
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 HP:0001182 Tapered fingers 
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 HP:0001597 Abnormality of the nails "Abnormality of the fingernails or toenails." [HPO:curators]
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 HP:0001839 Ectrodactyly (feet) "A condition in which the middle toe is missing, and the foot is cleft where the metatarsal corresponding to the toe would normally be." [HPO:curators]
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 HP:0002650 Scoliosis "The presence of an abnormal lateral curvature of the spine." [HPO:curators]
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 HP:0003510 Short stature, severe "A severe degree of short stature." [HPO:curators]
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 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]
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 HP:0012165 Oligodactyly "A developmental defect resulting in the presence of fewer than the normal number of digits." [HPO:probinson]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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