ENSG00000128710


Homo sapiens

Features
Gene ID: ENSG00000128710
  
Biological name :HOXD10
  
Synonyms : homeobox D10 / HOXD10 / P28358
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 2
Strand: 1
Band: q31.1
Gene start: 176108790
Gene end: 176119942
  
Corresponding Affymetrix probe sets: 207373_at (Human Genome U133 Plus 2.0 Array)   229400_at (Human Genome U133 Plus 2.0 Array)   238847_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000249501
NCBI entrez gene - 3236     See in Manteia.
OMIM - 142984
RefSeq - NM_002148
RefSeq Peptide - NP_002139
swissprot - P28358
Ensembl - ENSG00000128710
  
Related genetic diseases (OMIM): 192950 - Charcot-Marie-Tooth disease, foot deformity of, 192950

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
 Q90469ENSDARG00000057859Danio rerio
 HOXD10ENSGALG00000009270Gallus gallus
 Hoxd10ENSMUSG00000050368Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
HOXA10 / P31260 / homeobox A10ENSG0000025329352
HOXC10 / Q9NYD6 / homeobox C10ENSG0000018081844
HOXB9 / P17482 / homeobox B9ENSG0000017068926
HOXA9 / P31269 / homeobox A9ENSG0000007839925
HOXD9 / P28356 / homeobox D9ENSG0000012870924
HOXC9 / P31274 / homeobox C9ENSG0000018080624
HOXA11 / P31270 / homeobox A11ENSG0000000507321
HOXD11 / P31277 / homeobox D11ENSG0000012871320
HOXC11 / O43248 / homeobox C11ENSG0000012338819
AC004080.3ENSG0000025718418
HOXC12 / P31275 / homeobox C12ENSG0000012340717
HOXD13 / P35453 / homeobox D13ENSG0000012871417
HOXC13 / P31276 / homeobox C13ENSG0000012336416
HOXD12 / P35452 / homeobox D12ENSG0000017017816
HOXA13 / P31271 / homeobox A13ENSG0000010603116
HOXB13 / Q92826 / homeobox B13ENSG0000015918414


Protein motifs (from Interpro)
Interpro ID Name
 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 IEA
 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:0007338 single fertilization IEA
 biological_processGO:0007519 skeletal muscle tissue development IEA
 biological_processGO:0008344 adult locomotory behavior IEA
 biological_processGO:0009952 anterior/posterior pattern specification IEA
 biological_processGO:0009954 proximal/distal pattern formation IEA
 biological_processGO:0010468 regulation of gene expression IEA
 biological_processGO:0021520 spinal cord motor neuron cell fate specification IEA
 biological_processGO:0030326 embryonic limb morphogenesis IEA
 biological_processGO:0035136 forelimb morphogenesis IEA
 biological_processGO:0035137 hindlimb morphogenesis IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II IEA
 biological_processGO:0048704 embryonic skeletal system morphogenesis IEA
 biological_processGO:0048935 peripheral nervous system neuron development IEA
 biological_processGO:0050905 neuromuscular process IEA
 cellular_componentGO:0005634 nucleus IEA
 cellular_componentGO:0005654 nucleoplasm IDA
 cellular_componentGO:0005829 cytosol IDA
 cellular_componentGO:0036464 cytoplasmic ribonucleoprotein granule IDA
 molecular_functionGO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003682 chromatin binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity IEA
 molecular_functionGO:0043565 sequence-specific DNA binding IEA


Pathways (from Reactome)
Pathway description
No match


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001369 Arthritis 
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 HP:0001838 Vertical talus 
Show

 HP:0001848 Calcaneovalgus deformities 
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 HP:0008138 Equinus deformity of the calcaneus 
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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